GlyCosmos Portal

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GlyCosmos Genes

Integrated list of glycan-related genes extracted KEGG GENES Database, UniProt, GlycoGene Database (GGDB), Plant GARDEN and FlyGlycoDB. Glycan-related genes including glycosyltransferase, hydrolase activity (acting on glycosyl bonds), carbohydrate metabolic process, etc .

Source	Last Updated
FlyGlycoDB	March 25, 2024
GlycoGene Database (GGDB)	January 26, 2018
KEGG GENES Database	September 20, 2023
Plant GARDEN	May 28, 2020
UniProt	July 8, 2024

Selecting the function you want to look up from the categories displays a list narrowed down to glycan-related genes with that function (Gene Ontology).

Catalytic activity

glycosyltransferase activity

hydrolase activity, acting on glycosyl bonds

Binding

carbohydrate binding

Response to carbohydrate

Primary metabolic process

Displaying entries **501 - 525** of **1582** in total

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Gene ID ▲	Gene Name	Gene Symbol	Organism	Disease Ontology
5291	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta	PIK3CB	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 3 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell adult acute lymphocytic leukemia B-cell lymphoma Bannayan-Riley-Ruvalcaba syndrome Barrett's esophagus Burkitt lymphoma CAKUT CD40 ligand deficiency Chagas disease Chandler syndrome Clostridium difficile colitis Clouston syndrome Cockayne syndrome Cornelia de Lange syndrome Costello syndrome Cowden syndrome Creutzfeldt-Jakob disease Crohn's colitis Crohn's disease Dubowitz syndrome EEC syndrome Erdheim-Chester disease Ewing sarcoma Fleck corneal dystrophy Fuchs' endothelial dystrophy Graves' disease HCL-V Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Horner's syndrome Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease IgA glomerulonephritis Japanese encephalitis Kaposi's sarcoma Klatskin's tumor Langerhans-cell histiocytosis Lynch syndrome MHC class II deficiency Marfan syndrome Meckel syndrome NUT midline carcinoma Nijmegen breakage syndrome Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome with multiple lentigines 1 Noonan syndrome with multiple lentigines Noonan syndrome PTEN hamartoma tumor syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Peutz-Jeghers syndrome Pfeiffer syndrome Pick's disease Prader-Willi syndrome Proteus syndrome Reye syndrome Richter's syndrome Robinow syndrome SHORT syndrome Saethre-Chotzen syndrome Seckel syndrome Sertoli cell-only syndrome Sezary's disease Silver-Russell syndrome Sjogren's syndrome T-cell acute lymphoblastic leukemia T-cell adult acute lymphocytic leukemia Van der Woude syndrome Wernicke-Korsakoff syndrome West Nile encephalitis West Nile fever X-linked Aarskog syndrome X-linked agammaglobulinemia X-linked dilated cardiomyopathy X-linked ichthyosis X-linked spermatogenic failure 1 Zika fever Zollinger-Ellison syndrome abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 acoustic neuroma acrocephalosyndactylia acrodermatitis actinic keratosis acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute myocardial infarction acute pancreatitis acute promyelocytic leukemia adenocarcinoma adenoid cystic carcinoma adenoma adenosarcoma adenosine deaminase deficiency adiposis dolorosa adrenal gland cancer adrenoleukodystrophy adult T-cell leukemia/lymphoma adult acute lymphocytic leukemia adult acute monocytic leukemia adult fibrosarcoma adult liposarcoma adult lymphoma adult medulloblastoma adult oligodendroglioma adult respiratory distress syndrome age related macular degeneration agranulocytosis alcohol dependence alcohol use disorder alcoholic hepatitis alcoholic liver cirrhosis allergic asthma allergic rhinitis alternating hemiplegia of childhood amebiasis amnestic disorder ampulla of Vater carcinoma amyloidosis anal carcinoma anal margin carcinoma anal margin squamous cell carcinoma anal squamous cell carcinoma anaplastic astrocytoma androgen insensitivity syndrome angioedema angioimmunoblastic T-cell lymphoma angioma serpiginosum angiomatous meningioma angiosarcoma ankylosing spondylitis anogenital venereal wart anus benign neoplasm anus cancer aortic valve disease 2 aortic valve insufficiency aortic valve stenosis arrhythmogenic right ventricular cardiomyopathy arteriolosclerosis arteriosclerosis obliterans arteriosclerosis arteriosclerotic cardiovascular disease arteriovenous malformation arthritis arthropathy asthma ataxia telangiectasia atherosclerosis atrial fibrillation atrioventricular septal defect atrophic gastritis attention deficit hyperactivity disorder atypical chronic myeloid leukemia, BCR-ABL1 negative atypical teratoid rhabdoid tumor autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome autoimmune thyroiditis autonomic neuropathy autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal dominant familial periodic fever autosomal dominant polycystic kidney disease autosomal recessive Robinow syndrome azoospermia bacterial infectious disease bacterial sepsis basal cell carcinoma benign breast phyllodes tumor benign ependymoma benign meningioma benign mesothelioma bile duct adenocarcinoma bile duct cancer bile duct carcinoma biliary tract cancer biliary tract disease bipolar disorder bladder carcinoma bladder urothelial carcinoma blepharophimosis bone cancer bone disease bone marrow cancer bone osteosarcoma botryoid rhabdomyosarcoma brain cancer brain disease brain ischemia brain stem infarction breast adenocarcinoma breast cancer breast carcinoma breast ductal carcinoma breast malignant phyllodes tumor breast metaplastic carcinoma bronchus cancer bronchus carcinoma cancer capillary disease capillary hemangioma carcinoma cardiomyopathy cardiovascular system disease carotid artery thrombosis carotid stenosis cartilage disease cataract 2 multiple types cataract 30 cataract cavernous hemangioma celiac disease cellular ependymoma cellular myxoid liposarcoma cellular schwannoma central nervous system cancer central nervous system disease central nervous system lymphoma cerebellar ataxia cerebellar disease cerebral artery occlusion cerebral convexity meningioma cerebral degeneration cerebral infarction cerebral palsy cerebral primitive neuroectodermal tumor cerebrovascular disease cervical adenocarcinoma cervical cancer cervical clear cell adenocarcinoma cervical squamous cell carcinoma cervix carcinoma chikungunya childhood B-cell acute lymphoblastic leukemia childhood T-cell acute lymphoblastic leukemia childhood acute lymphocytic leukemia childhood angiosarcoma childhood astrocytic tumor childhood cerebral astrocytoma childhood ependymoma childhood leukemia childhood liposarcoma childhood lymphoma childhood medulloblastoma childhood oligodendroglioma childhood optic nerve glioma childhood osteosarcoma childhood pilocytic astrocytoma childhood testicular germ cell tumor cholangiocarcinoma cholera cholestasis cholesteatoma chondrodysplasia-pseudohermaphroditism syndrome chondroma chondrosarcoma chordoma choreaacanthocytosis chorioangioma choriocarcinoma chromophobe renal cell carcinoma chromosome 10q23 deletion syndrome chronic fatigue syndrome chronic interstitial cystitis chronic kidney disease chronic lymphocytic leukemia chronic monocytic leukemia chronic myeloid leukemia chronic obstructive pulmonary disease chronic ulcer of skin ciliary body disease clear cell meningioma clear cell renal cell carcinoma cocaine abuse cocaine dependence colitis collecting duct carcinoma colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common wart communicating hydrocephalus complement deficiency cone-rod dystrophy 2 cone-rod dystrophy congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital heart disease congenital hypogammaglobulinemia congenital hypothyroidism congestive heart failure connective tissue disease corneal disease coronary artery disease coronary thrombosis craniosynostosis cribriform carcinoma cutaneous Paget's disease cystadenoma cystic fibrosis cystic kidney disease cystitis deafness-dystonia-optic neuronopathy syndrome dedifferentiated liposarcoma degeneration of macula and posterior pole degenerative disc disease dementia dengue disease dengue hemorrhagic fever denture stomatitis depressive disorder dermatitis dermatosis papulosa nigra diabetes insipidus diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy diarrhea differentiated thyroid gland carcinoma diffuse large B-cell lymphoma dilated cardiomyopathy 1A dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy disease of metabolism distal arthrogryposis duodenum cancer dysembryoplastic neuroepithelial tumor dysthymic disorder early infantile epileptic encephalopathy ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 embryoma embryonal cancer embryonal rhabdomyosarcoma encephalitis encephalomyelitis endocrine exophthalmos endometrial cancer endometrial carcinoma endometrial serous adenocarcinoma endometriosis of uterus endometriosis endomyocardial fibrosis epidermolysis bullosa acquisita epidermolysis bullosa dystrophica epilepsy episodic kinesigenic dyskinesia 1 epithelioid leiomyosarcoma epithelioid malignant peripheral nerve sheath tumor epithelioid sarcoma esophageal cancer esophageal carcinoma esophagitis esophagus adenocarcinoma esophagus squamous cell carcinoma essential hypertension essential thrombocythemia exanthem exudative vitreoretinopathy 1 exudative vitreoretinopathy familial adenomatous polyposis 1 familial adenomatous polyposis familial hyperlipidemia familial hypertrophic cardiomyopathy familial multiple nevi flammei familial nephrotic syndrome familial retinoblastoma fibrillary astrocytoma fibrosarcoma fibrous meningioma follicular adenoma follicular lymphoma fragile X syndrome functionless pituitary adenoma gallbladder cancer gallbladder carcinoma gallbladder disease gastric adenocarcinoma gastroenteritis gastroesophageal reflux disease gastrointestinal stromal tumor gastrointestinal system cancer gemistocytic astrocytoma germ cell and embryonal cancer germ cell cancer germinoma gestational diabetes gestational trophoblastic neoplasm giant cell glioblastoma gingival fibromatosis glaucoma glioblastoma gliosarcoma glomus tumor glucose intolerance glucose metabolism disease gonorrhea granular cell carcinoma hairy cell leukemia head and neck cancer head and neck squamous cell carcinoma heart cancer heart disease hemangioma hematologic cancer hemiplegia hemochromatosis type 1 hemochromatosis hepatitis B hepatitis C hepatitis hepatoblastoma hepatocellular carcinoma hereditary hemorrhagic telangiectasia heroin dependence herpes simplex virus keratitis herpes simplex high grade glioma histiocytoid hemangioma hydrocephalus hyperandrogenism hyperglycemia hyperhomocysteinemia hyperinsulinism hyperostosis hypertension hyperthyroidism hypertrophic cardiomyopathy hypoglycemia hypospadias hypothalamic disease hypothyroidism idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis immune system disease impotence inflammatory and toxic neuropathy inflammatory bowel disease 1 inflammatory bowel disease inflammatory breast carcinoma influenza intellectual disability interstitial cystitis intestinal benign neoplasm intestinal cancer intracranial aneurysm intrahepatic cholangiocarcinoma intramuscular hemangioma intraorbital meningioma intraventricular meningioma intrinsic asthma invasive ductal carcinoma inverted follicular keratosis iris disease irritable bowel syndrome islet cell tumor juvenile myelomonocytic leukemia juvenile pilocytic astrocytoma juvenile polyposis syndrome keratoconjunctivitis sicca keratoconus kidney cancer kidney disease kidney rhabdoid cancer kwashiorkor large intestine cancer laryngeal benign neoplasm laryngeal carcinoma laryngeal squamous cell carcinoma larynx cancer lateral meningocele syndrome learning disability leiomyoma leiomyosarcoma leishmaniasis leprosy leukemia leukocyte adhesion deficiency 1 leukocyte adhesion deficiency leukopenia lipoatrophic diabetes mellitus lipodystrophy lipoid nephrosis lipomatosis liposarcoma liver cancer liver carcinoma liver cirrhosis liver disease localized scleroderma lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung non-squamous non-small cell carcinoma lung oat cell carcinoma lung small cell carcinoma lung squamous cell carcinoma lupus erythematosus lupus nephritis lymphangioma lymphoblastic lymphoma lymphoid leukemia lymphoma lymphoplasmacyte-rich meningioma lymphoplasmacytic lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 macroglobulinemia macular degeneration major depressive disorder male breast cancer male infertility malignant astrocytoma malignant choroid melanoma malignant conjunctival melanoma malignant fibrous histiocytoma malignant mesothelioma malignant peripheral nerve sheath tumor malignant pleural mesothelioma mantle cell lymphoma marasmus mast-cell leukemia mastocytosis medulloblastoma medulloepithelioma medullomyoblastoma melancholic depression melanoacanthoma melanoma melanotic medulloblastoma melanotic neurilemmoma membranoproliferative glomerulonephritis meningioma meningothelial meningioma mesangial proliferative glomerulonephritis mesenchymal cell neoplasm microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcephaly microcystic adenoma microcystic meningioma microphthalmia middle cerebral artery infarction migraine mitochondrial DNA depletion syndrome mixed glioma mixed oligodendroglioma-astrocytoma mixed-type liposarcoma mood disorder morphine dependence mucinous adenocarcinoma mucoepidermoid carcinoma multicentric Castleman disease multiple endocrine neoplasia type 1 multiple myeloma multiple sclerosis multiple symmetric lipomatosis mycosis fungoides myelitis myelodysplastic syndrome myelofibrosis myeloid leukemia myeloproliferative neoplasm myocardial infarction myofibroma myotonic dystrophy type 2 myxedema myxoid leiomyosarcoma myxoid liposarcoma myxopapillary ependymoma nasopharynx carcinoma neovascular inflammatory vitreoretinopathy nephroblastoma nephrolithiasis nephrosis nephrotic syndrome nervous system disease neurilemmoma neuroacanthocytosis neuroblastoma neurocirculatory asthenia neurodegenerative disease neuroectodermal tumor neuroendocrine carcinoma neuroendocrine tumor neurofibromatosis 1 neurofibromatosis neurofibrosarcoma neurohypophyseal diabetes insipidus neuromuscular disease neuromyelitis optica neuropathy neurotic disorder neutropenia newborn respiratory distress syndrome nicotine dependence nodular prostate non-Hodgkin lymphoma non-congenital cyst of kidney nonpapillary renal cell carcinoma nutmeg liver nutrition disease obesity obsolete Matthew-Wood syndrome obsolete Opitz-GBBB syndrome obsolete T-cell lymphoblastic leukemia/lymphoma obsolete embryonal Tumor with Multilayered Rosettes, C19MC-Altered obsolete hilar cholangiocellular carcinoma obsolete lymphoplasmacytic lymphoma obsolete malignant histiocytosis obsolete melancholia obsolete multiple symmetrical lipomatosis obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma obstructive hydrocephalus obstructive jaundice obstructive nephropathy obstructive sleep apnea olfactory groove meningioma oligodendroglioma opiate dependence optic nerve glioma oropharynx cancer osteoarthritis osteoglophonic dysplasia osteomalacia osteoporosis osteosarcoma otitis media ovarian cancer ovarian carcinoma ovarian serous cystadenocarcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma pancreatic intraductal papillary-mucinous neoplasm pancreatitis panuveitis papillary adenocarcinoma papillary adenoma papillary ependymoma papillary hidradenoma papillary renal cell carcinoma papilloma parapsoriasis parasagittal meningioma parathyroid adenoma parathyroid carcinoma parathyroid gland disease patent ductus arteriosus penile benign neoplasm penile cancer penis carcinoma penis squamous cell carcinoma peptic esophagitis perinatal necrotizing enterocolitis periodontitis peripheral T-cell lymphoma peripheral nervous system disease pheochromocytoma pilocytic astrocytoma pituitary adenoma pituitary cancer pituitary carcinoma pityriasis rubra pilaris placenta cancer placental insufficiency plasmacytoma pleomorphic liposarcoma plexiform schwannoma pneumonia polycystic kidney disease 1 polycystic ovary syndrome polycythemia vera polycythemia polymyalgia rheumatica polyneuropathy polyp of middle ear postinflammatory pulmonary fibrosis pre-eclampsia prediabetes syndrome premature ejaculation premature menopause preretinal fibrosis primary cutaneous T-cell non-Hodgkin lymphoma primary immunodeficiency disease primary mediastinal B-cell lymphoma primary ovarian insufficiency primary pulmonary hypertension prion disease prolactinoma prostate adenocarcinoma prostate cancer prostate carcinoma prostatic adenoma protein-energy malnutrition protoplasmic astrocytoma psammomatous meningioma pseudomyxoma peritonei psoriasis psoriatic arthritis psychologic dyspareunia pterygium pulmonary fibrosis pulmonary sarcoidosis pustulosis of palm and sole rabies recessive dystrophic epidermolysis bullosa rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma reticulosarcoma retinal disease retinitis retinoblastoma retinopathy of prematurity retrograde amnesia rhabdoid cancer rhabdomyosarcoma rheumatoid arthritis rickets salivary gland adenoid cystic carcinoma sarcoidosis sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia scleroderma sebaceous carcinoma seborrheic dermatitis seborrheic keratosis secondary hyperparathyroidism secretory meningioma seminoma senile degeneration of brain severe combined immunodeficiency severe congenital neutropenia sialuria sick sinus syndrome signet ring cell adenocarcinoma silent myocardial infarction situs inversus skin atrophy skin carcinoma skin disease skin melanoma skin squamous cell carcinoma skull base chordoma small intestine adenocarcinoma small intestine cancer spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spinal meningioma spindle cell sarcoma split hand-foot malformation 1 squamous cell carcinoma squamous cell neoplasm squamous cell papilloma status epilepticus steatotic liver disease stomach cancer stomach carcinoma stomatitis subacute delirium subependymal giant cell astrocytoma substance abuse substance-related disorder supratentorial primitive neuroectodermal tumor sweat gland cancer syndromic X-linked intellectual disability Snyder type syndromic intellectual disability synovial sarcoma synovitis systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic lupus erythematosus systemic scleroderma tanycytic ependymoma telangiectasis temporal arteritis tenosynovitis testicular cancer testicular germ cell cancer testis seminoma thromboangiitis obliterans thrombocytopenia thrombosis thrombotic thrombocytopenic purpura thymic carcinoma thymoma thymus lymphoma thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland follicular carcinoma thyroid gland medullary carcinoma thyroid gland papillary carcinoma thyroiditis thyrotoxicosis tongue cancer tongue squamous cell carcinoma tonsil cancer transient cerebral ischemia transitional cell carcinoma transitional meningioma trigonitis trilateral retinoblastoma trypanosomiasis tuberculosis tuberous sclerosis 1 tuberous sclerosis tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus type C thymoma ulcerative colitis ulcerative stomatitis ureteral obstruction uric acid nephrolithiasis urinary bladder cancer urticaria uterine cancer uterine corpus cancer uterine fibroid uveal melanoma uveitis uveoparotid fever vascular dementia vascular disease vasomotor rhinitis venous hemangioma vertebrobasilar insufficiency vestibular schwannomatosis viral infectious disease visceral leishmaniasis visual epilepsy vitiligo von Hippel-Lindau disease yellow fever
5293	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	PIK3CD Aliases: p110D phosphatidylinositol 3-kinase, catalytic, delta polypeptide phosphoinositide-3-kinase C	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 3 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell adult acute lymphocytic leukemia B-cell lymphoma Balo concentric sclerosis Bannayan-Riley-Ruvalcaba syndrome Barrett's esophagus Burkitt lymphoma CAKUT CD40 ligand deficiency Chagas disease Chandler syndrome Clostridium difficile colitis Clouston syndrome Cockayne syndrome Cornelia de Lange syndrome Costello syndrome Cowden syndrome Creutzfeldt-Jakob disease Crohn's colitis Crohn's disease Down syndrome Dubowitz syndrome EEC syndrome Erdheim-Chester disease Ewing sarcoma Fleck corneal dystrophy Fuchs' endothelial dystrophy Graves' disease HCL-V Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Horner's syndrome Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease IgA glomerulonephritis Japanese encephalitis Kaposi's sarcoma Klatskin's tumor Langerhans-cell histiocytosis Lynch syndrome MHC class II deficiency Marfan syndrome Meckel syndrome NUT midline carcinoma Nijmegen breakage syndrome Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome with multiple lentigines 1 Noonan syndrome with multiple lentigines Noonan syndrome PTEN hamartoma tumor syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Peutz-Jeghers syndrome Pfeiffer syndrome Pick's disease Prader-Willi syndrome Proteus syndrome Reye syndrome Richter's syndrome Robinow syndrome SHORT syndrome Saethre-Chotzen syndrome Seckel syndrome Sertoli cell-only syndrome Sezary's disease Silver-Russell syndrome Sjogren's syndrome St. Louis encephalitis Sveinsson chorioretinal atrophy T-cell acute lymphoblastic leukemia T-cell adult acute lymphocytic leukemia Van der Woude syndrome Wernicke-Korsakoff syndrome West Nile encephalitis West Nile fever X-linked Aarskog syndrome X-linked agammaglobulinemia X-linked dilated cardiomyopathy X-linked ichthyosis X-linked spermatogenic failure 1 Zika fever Zollinger-Ellison syndrome abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 acoustic neuroma acrocephalosyndactylia acrodermatitis actinic keratosis acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute myocardial infarction acute pancreatitis acute promyelocytic leukemia adenocarcinoma adenoid cystic carcinoma adenoma adenosarcoma adenosine deaminase deficiency adiposis dolorosa adrenal gland cancer adrenoleukodystrophy adult T-cell leukemia/lymphoma adult acute lymphocytic leukemia adult acute monocytic leukemia adult fibrosarcoma adult liposarcoma adult lymphoma adult medulloblastoma adult oligodendroglioma adult respiratory distress syndrome agammaglobulinemia age related macular degeneration agranulocytosis alcohol dependence alcohol use disorder alcoholic hepatitis alcoholic liver cirrhosis allergic asthma allergic rhinitis alternating hemiplegia of childhood amebiasis amnestic disorder ampulla of Vater carcinoma amyloidosis anal carcinoma anal margin carcinoma anal margin squamous cell carcinoma anal squamous cell carcinoma anaplastic astrocytoma androgen insensitivity syndrome angioedema angioimmunoblastic T-cell lymphoma angioma serpiginosum angiomatous meningioma angiosarcoma ankylosing spondylitis anogenital venereal wart anus benign neoplasm anus cancer aortic valve disease 2 aortic valve insufficiency aortic valve stenosis arrhythmogenic right ventricular cardiomyopathy arteriolosclerosis arteriosclerosis obliterans arteriosclerosis arteriosclerotic cardiovascular disease arteriovenous malformation arthritis arthropathy asthma ataxia telangiectasia atherosclerosis atrial fibrillation atrioventricular septal defect atrophic gastritis attention deficit hyperactivity disorder atypical chronic myeloid leukemia, BCR-ABL1 negative atypical teratoid rhabdoid tumor autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome autoimmune thyroiditis autonomic neuropathy autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal dominant familial periodic fever autosomal dominant polycystic kidney disease autosomal recessive Robinow syndrome azoospermia bacterial infectious disease bacterial sepsis basal cell carcinoma benign breast phyllodes tumor benign ependymoma benign meningioma benign mesothelioma bile duct adenocarcinoma bile duct cancer bile duct carcinoma biliary tract cancer biliary tract disease bipolar disorder bladder carcinoma bladder urothelial carcinoma bone cancer bone disease bone marrow cancer bone marrow disease bone osteosarcoma botryoid rhabdomyosarcoma brain cancer brain disease brain ischemia brain stem infarction breast cancer breast carcinoma breast ductal carcinoma breast malignant phyllodes tumor breast metaplastic carcinoma bronchiectasis bronchiolitis obliterans bronchus cancer bronchus carcinoma cancer capillary disease capillary hemangioma carcinoma cardiac arrest cardiomyopathy cardiovascular system disease carotid artery thrombosis carotid stenosis cartilage disease cataract 2 multiple types cataract 30 cataract cavernous hemangioma celiac disease cellular ependymoma cellular myxoid liposarcoma cellular schwannoma cellulitis central nervous system cancer central nervous system disease central nervous system lymphoma cerebellar ataxia cerebellar disease cerebral artery occlusion cerebral convexity meningioma cerebral degeneration cerebral infarction cerebral palsy cerebral primitive neuroectodermal tumor cerebrovascular disease cervical adenocarcinoma cervical cancer cervical clear cell adenocarcinoma cervical squamous cell carcinoma cervix carcinoma chikungunya childhood T-cell acute lymphoblastic leukemia childhood acute lymphocytic leukemia childhood angiosarcoma childhood astrocytic tumor childhood cerebral astrocytoma childhood ependymoma childhood leukemia childhood liposarcoma childhood lymphoma childhood medulloblastoma childhood oligodendroglioma childhood optic nerve glioma childhood osteosarcoma childhood pilocytic astrocytoma childhood testicular germ cell tumor cholangiocarcinoma cholera cholestasis cholesteatoma chondrodysplasia-pseudohermaphroditism syndrome chondroma chondrosarcoma chordoma choreaacanthocytosis chorioangioma choriocarcinoma chromophobe renal cell carcinoma chromosome 10q23 deletion syndrome chronic fatigue syndrome chronic granulomatous disease chronic interstitial cystitis chronic kidney disease chronic lymphocytic leukemia chronic monocytic leukemia chronic myeloid leukemia chronic obstructive pulmonary disease chronic ulcer of skin clear cell meningioma clear cell renal cell carcinoma cocaine abuse cocaine dependence colitis collecting duct carcinoma colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma combined T cell and B cell immunodeficiency common variable immunodeficiency common wart communicating hydrocephalus complement deficiency cone-rod dystrophy 2 cone-rod dystrophy congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital heart disease congenital hypogammaglobulinemia congenital hypothyroidism congestive heart failure connective tissue disease corneal disease coronary artery disease coronary thrombosis craniosynostosis cribriform carcinoma cutaneous Paget's disease cystadenoma cystic fibrosis cystic kidney disease cystitis deafness-dystonia-optic neuronopathy syndrome dedifferentiated liposarcoma degeneration of macula and posterior pole degenerative disc disease dementia dengue disease dengue hemorrhagic fever denture stomatitis depressive disorder dermatitis dermatosis papulosa nigra diabetes insipidus diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy diarrhea differentiated thyroid gland carcinoma diffuse large B-cell lymphoma dilated cardiomyopathy 1A dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy disease of metabolism distal arthrogryposis duodenum cancer dysembryoplastic neuroepithelial tumor dysthymic disorder early infantile epileptic encephalopathy ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 embryoma embryonal cancer embryonal rhabdomyosarcoma encephalitis encephalomyelitis endocrine exophthalmos endometrial cancer endometrial carcinoma endometrial serous adenocarcinoma endometriosis of uterus endometriosis endomyocardial fibrosis epidermolysis bullosa acquisita epidermolysis bullosa dystrophica epilepsy episodic kinesigenic dyskinesia 1 epithelioid leiomyosarcoma epithelioid malignant peripheral nerve sheath tumor epithelioid sarcoma esophageal cancer esophageal carcinoma esophagitis esophagus adenocarcinoma esophagus squamous cell carcinoma essential hypertension essential thrombocythemia exanthem exudative vitreoretinopathy 1 exudative vitreoretinopathy eye disease familial adenomatous polyposis 1 familial adenomatous polyposis familial hyperlipidemia familial hypertrophic cardiomyopathy familial multiple nevi flammei familial nephrotic syndrome familial retinoblastoma fibrillary astrocytoma fibrosarcoma fibrous meningioma follicular adenoma follicular lymphoma fragile X syndrome functionless pituitary adenoma gallbladder cancer gallbladder carcinoma gallbladder disease ganglioglioma gastric adenocarcinoma gastroenteritis gastroesophageal reflux disease gastrointestinal stromal tumor gastrointestinal system cancer gemistocytic astrocytoma germ cell and embryonal cancer germ cell cancer germinoma gestational diabetes gestational trophoblastic neoplasm giant cell glioblastoma gingival fibromatosis glaucoma glioblastoma gliosarcoma glomus tumor glucose intolerance glucose metabolism disease gonorrhea granular cell carcinoma hairy cell leukemia head and neck cancer head and neck squamous cell carcinoma heart cancer heart disease hemangioma hematologic cancer hematopoietic system disease hemiplegia hemochromatosis type 1 hemochromatosis hepatitis B hepatitis C hepatitis hepatoblastoma hepatocellular carcinoma hereditary hemorrhagic telangiectasia heroin dependence herpes simplex virus keratitis herpes simplex high grade glioma histiocytoid hemangioma hydrocephalus hyperandrogenism hyperglycemia hyperhomocysteinemia hyperinsulinism hyperostosis hypertension hyperthyroidism hypertrophic cardiomyopathy hypoglycemia hypothalamic disease hypothyroidism idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis immune system disease immunodeficiency 14 impotence inflammatory and toxic neuropathy inflammatory bowel disease 1 inflammatory bowel disease inflammatory breast carcinoma influenza intellectual disability interstitial cystitis intestinal benign neoplasm intestinal cancer intracranial aneurysm intrahepatic cholangiocarcinoma intramuscular hemangioma intraorbital meningioma intraventricular meningioma intrinsic asthma invasive ductal carcinoma inverted follicular keratosis inverted papilloma irritable bowel syndrome islet cell tumor juvenile myelomonocytic leukemia juvenile pilocytic astrocytoma juvenile polyposis syndrome keratoconjunctivitis sicca keratoconus kidney cancer kidney disease kidney rhabdoid cancer kwashiorkor large intestine cancer laryngeal benign neoplasm laryngeal carcinoma laryngeal squamous cell carcinoma larynx cancer lateral meningocele syndrome learning disability leiomyoma leiomyosarcoma leishmaniasis leprosy leukemia leukocyte adhesion deficiency 1 leukocyte adhesion deficiency leukopenia lipoatrophic diabetes mellitus lipodystrophy lipoid nephrosis lipomatosis liposarcoma liver cancer liver carcinoma liver cirrhosis liver disease localized scleroderma lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung non-squamous non-small cell carcinoma lung oat cell carcinoma lung small cell carcinoma lung squamous cell carcinoma lupus erythematosus lupus nephritis lymphangioma lymphoblastic lymphoma lymphoid leukemia lymphoma lymphoplasmacyte-rich meningioma lymphoplasmacytic lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 macroglobulinemia macular degeneration major depressive disorder male breast cancer male infertility malignant astrocytoma malignant choroid melanoma malignant conjunctival melanoma malignant fibrous histiocytoma malignant mesothelioma malignant peripheral nerve sheath tumor malignant pleural mesothelioma mantle cell lymphoma marasmus mast-cell leukemia mastocytosis medulloblastoma medulloepithelioma medullomyoblastoma melancholic depression melanoacanthoma melanoma melanotic medulloblastoma melanotic neurilemmoma membranoproliferative glomerulonephritis meningioma meningothelial meningioma mesangial proliferative glomerulonephritis mesenchymal cell neoplasm microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcystic adenoma microcystic meningioma microphthalmia middle cerebral artery infarction migraine mitochondrial DNA depletion syndrome mixed glioma mixed oligodendroglioma-astrocytoma mixed-type liposarcoma mood disorder morphine dependence mucinous adenocarcinoma mucoepidermoid carcinoma multicentric Castleman disease multiple endocrine neoplasia type 1 multiple myeloma multiple sclerosis multiple symmetric lipomatosis mycosis fungoides myelitis myelodysplastic syndrome myelofibrosis myeloid leukemia myeloproliferative neoplasm myocardial infarction myofibroma myotonic dystrophy type 2 myxedema myxoid leiomyosarcoma myxoid liposarcoma myxopapillary ependymoma narcolepsy nasopharynx carcinoma neovascular inflammatory vitreoretinopathy nephroblastoma nephrolithiasis nephrosis nephrotic syndrome nervous system disease neurilemmoma neuroacanthocytosis neuroblastoma neurocirculatory asthenia neurodegenerative disease neuroectodermal tumor neuroendocrine carcinoma neuroendocrine tumor neurofibromatosis 1 neurofibromatosis neurofibrosarcoma neurohypophyseal diabetes insipidus neuromuscular disease neuromyelitis optica neuropathy neurotic disorder neutropenia newborn respiratory distress syndrome nodular prostate non-Hodgkin lymphoma non-congenital cyst of kidney nonpapillary renal cell carcinoma nutmeg liver nutrition disease obesity obsolete Matthew-Wood syndrome obsolete Opitz-GBBB syndrome obsolete T-cell lymphoblastic leukemia/lymphoma obsolete embryonal Tumor with Multilayered Rosettes, C19MC-Altered obsolete hilar cholangiocellular carcinoma obsolete lymphoplasmacytic lymphoma obsolete malignant histiocytosis obsolete melancholia obsolete multiple symmetrical lipomatosis obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma obstructive hydrocephalus obstructive jaundice obstructive nephropathy obstructive sleep apnea olfactory groove meningioma oligodendroglioma oophoritis opiate dependence optic nerve glioma oropharynx cancer osteoarthritis osteoglophonic dysplasia osteomalacia osteoporosis osteosarcoma otitis media ovarian cancer ovarian carcinoma ovarian serous cystadenocarcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma pancreatic intraductal papillary-mucinous neoplasm pancreatitis papillary adenocarcinoma papillary adenoma papillary ependymoma papillary hidradenoma papillary renal cell carcinoma papilloma parametritis parapsoriasis parasagittal meningioma parathyroid adenoma parathyroid carcinoma parathyroid gland disease parotitis patent ductus arteriosus pelvic inflammatory disease penile benign neoplasm penile cancer penis carcinoma penis squamous cell carcinoma peptic esophagitis perinatal necrotizing enterocolitis periodontitis peripheral T-cell lymphoma peripheral nervous system disease pheochromocytoma pilocytic astrocytoma pituitary adenoma pituitary cancer pituitary carcinoma pityriasis rubra pilaris placenta cancer placental insufficiency plasmacytoma pleomorphic liposarcoma plexiform schwannoma pneumonia polycystic kidney disease 1 polycystic ovary syndrome polycythemia vera polycythemia polymyalgia rheumatica polyneuropathy polyp of middle ear postinflammatory pulmonary fibrosis pre-eclampsia prediabetes syndrome premature ejaculation premature menopause preretinal fibrosis primary cutaneous T-cell non-Hodgkin lymphoma primary immunodeficiency disease primary mediastinal B-cell lymphoma primary ovarian insufficiency primary pulmonary hypertension primary sclerosing cholangitis prion disease prolactinoma prostate cancer prostate carcinoma prostatic adenoma protein-energy malnutrition protoplasmic astrocytoma psammomatous meningioma pseudomyxoma peritonei psoriasis psoriatic arthritis psychologic dyspareunia pterygium pulmonary fibrosis pulmonary sarcoidosis pustulosis of palm and sole pyosalpinx rabies recessive dystrophic epidermolysis bullosa rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma reticulosarcoma retinal disease retinitis retinoblastoma retinopathy of prematurity retrograde amnesia rhabdoid cancer rhabdomyosarcoma rheumatoid arthritis rickets salivary gland adenoid cystic carcinoma salpingitis sarcoidosis sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia scleroderma sclerosing cholangitis sebaceous carcinoma seborrheic dermatitis seborrheic keratosis secondary hyperparathyroidism secretory meningioma seminoma senile degeneration of brain severe combined immunodeficiency severe congenital neutropenia sialadenitis sialuria sick sinus syndrome signet ring cell adenocarcinoma silent myocardial infarction situs inversus skin benign neoplasm skin cancer skin carcinoma skin disease skin melanoma skin squamous cell carcinoma skull base chordoma small intestine adenocarcinoma small intestine cancer spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spinal meningioma spindle cell sarcoma split hand-foot malformation 1 squamous cell carcinoma squamous cell neoplasm squamous cell papilloma status epilepticus steatotic liver disease stomach cancer stomach carcinoma stomatitis subacute delirium subependymal giant cell astrocytoma substance abuse substance-related disorder supratentorial primitive neuroectodermal tumor sweat gland cancer syndromic X-linked intellectual disability Snyder type syndromic intellectual disability synovial sarcoma synovitis systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic lupus erythematosus systemic scleroderma tanycytic ependymoma telangiectasis temporal arteritis tenosynovitis testicular cancer testicular germ cell cancer testis seminoma thromboangiitis obliterans thrombocytopenia thymic carcinoma thymoma thymus lymphoma thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland follicular carcinoma thyroid gland medullary carcinoma thyroid gland papillary carcinoma thyroiditis thyrotoxicosis tongue cancer tongue squamous cell carcinoma tonsil cancer transient cerebral ischemia transitional cell carcinoma transitional meningioma trigonitis trilateral retinoblastoma trypanosomiasis tuberculosis tuberous sclerosis 1 tuberous sclerosis tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus type C thymoma ulcerative colitis ulcerative stomatitis ureteral obstruction uric acid nephrolithiasis urinary bladder cancer urticaria uterine cancer uterine corpus cancer uterine fibroid uveal melanoma uveoparotid fever vascular dementia vascular disease vasomotor rhinitis venous hemangioma venous insufficiency vertebrobasilar insufficiency vestibular schwannomatosis viral infectious disease visceral leishmaniasis visual epilepsy vitiligo von Hippel-Lindau disease xeroderma pigmentosum group C yellow fever
5294	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma	PIK3CG	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 3 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell adult acute lymphocytic leukemia B-cell lymphoma Bannayan-Riley-Ruvalcaba syndrome Barrett's esophagus Burkitt lymphoma CAKUT CD40 ligand deficiency Chagas disease Chandler syndrome Clostridium difficile colitis Clouston syndrome Cockayne syndrome Cornelia de Lange syndrome Costello syndrome Cowden syndrome Creutzfeldt-Jakob disease Crohn's colitis Crohn's disease Dubowitz syndrome EEC syndrome Erdheim-Chester disease Ewing sarcoma Fleck corneal dystrophy Fuchs' endothelial dystrophy Graves' disease HCL-V Hirschsprung's disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Horner's syndrome Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease IgA glomerulonephritis Japanese encephalitis Kaposi's sarcoma Klatskin's tumor Langerhans-cell histiocytosis Lynch syndrome MHC class II deficiency Marfan syndrome Meckel syndrome Meier-Gorlin syndrome 1 Meier-Gorlin syndrome NUT midline carcinoma Nijmegen breakage syndrome Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome with multiple lentigines 1 Noonan syndrome with multiple lentigines Noonan syndrome PTEN hamartoma tumor syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Peutz-Jeghers syndrome Pfeiffer syndrome Pick's disease Prader-Willi syndrome Proteus syndrome Reye syndrome Richter's syndrome Robinow syndrome SHORT syndrome Saethre-Chotzen syndrome Seckel syndrome Sertoli cell-only syndrome Sezary's disease Silver-Russell syndrome Sjogren's syndrome Sveinsson chorioretinal atrophy T-cell acute lymphoblastic leukemia T-cell adult acute lymphocytic leukemia Van der Woude syndrome Wernicke-Korsakoff syndrome West Nile fever X-linked Aarskog syndrome X-linked agammaglobulinemia X-linked dilated cardiomyopathy X-linked ichthyosis X-linked spermatogenic failure 1 Zika fever Zollinger-Ellison syndrome abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 acoustic neuroma acrocephalosyndactylia acrodermatitis actinic keratosis acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute myocardial infarction acute pancreatitis acute promyelocytic leukemia adenocarcinoma adenoid cystic carcinoma adenoma adenosarcoma adenosine deaminase deficiency adiposis dolorosa adrenal gland cancer adrenoleukodystrophy adult T-cell leukemia/lymphoma adult acute lymphocytic leukemia adult acute monocytic leukemia adult fibrosarcoma adult liposarcoma adult lymphoma adult medulloblastoma adult oligodendroglioma adult respiratory distress syndrome age related macular degeneration agranulocytosis alcohol dependence alcohol use disorder alcoholic hepatitis alcoholic liver cirrhosis allergic asthma allergic rhinitis alternating hemiplegia of childhood amebiasis amnestic disorder ampulla of Vater carcinoma amyloidosis anal carcinoma anal margin carcinoma anal margin squamous cell carcinoma anal squamous cell carcinoma anaplastic astrocytoma androgen insensitivity syndrome angioedema angioimmunoblastic T-cell lymphoma angioma serpiginosum angiomatous meningioma angiosarcoma ankylosing spondylitis anogenital venereal wart anus benign neoplasm anus cancer aortic valve disease 2 aortic valve insufficiency aortic valve stenosis arrhythmogenic right ventricular cardiomyopathy arteriolosclerosis arteriosclerosis obliterans arteriosclerosis arteriosclerotic cardiovascular disease arteriovenous malformation arthritis arthropathy asthma ataxia telangiectasia atherosclerosis atrial fibrillation atrioventricular septal defect atrophic gastritis attention deficit hyperactivity disorder atypical chronic myeloid leukemia, BCR-ABL1 negative atypical teratoid rhabdoid tumor autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome autoimmune thyroiditis autonomic neuropathy autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal dominant familial periodic fever autosomal dominant polycystic kidney disease autosomal recessive Robinow syndrome azoospermia bacterial infectious disease bacterial sepsis basal cell carcinoma benign breast phyllodes tumor benign ependymoma benign meningioma benign mesothelioma bile duct adenocarcinoma bile duct cancer bile duct carcinoma biliary tract cancer biliary tract disease bipolar disorder bladder carcinoma bladder urothelial carcinoma bone cancer bone disease bone marrow cancer bone osteosarcoma botryoid rhabdomyosarcoma brain cancer brain disease brain ischemia brain stem infarction breast cancer breast carcinoma breast ductal carcinoma breast malignant phyllodes tumor breast metaplastic carcinoma bronchus cancer bronchus carcinoma cancer capillary disease capillary hemangioma carcinoma cardiac arrest cardiomyopathy cardiovascular system disease carotid artery thrombosis carotid stenosis cartilage disease cataract 2 multiple types cataract 30 cataract cavernous hemangioma celiac disease cellular ependymoma cellular myxoid liposarcoma cellular schwannoma central nervous system cancer central nervous system disease central nervous system lymphoma cerebellar ataxia cerebellar disease cerebral artery occlusion cerebral convexity meningioma cerebral degeneration cerebral infarction cerebral palsy cerebral primitive neuroectodermal tumor cerebrovascular disease cervical adenocarcinoma cervical cancer cervical clear cell adenocarcinoma cervical squamous cell carcinoma cervix carcinoma chikungunya childhood B-cell acute lymphoblastic leukemia childhood T-cell acute lymphoblastic leukemia childhood acute lymphocytic leukemia childhood angiosarcoma childhood astrocytic tumor childhood cerebral astrocytoma childhood ependymoma childhood leukemia childhood liposarcoma childhood lymphoma childhood medulloblastoma childhood oligodendroglioma childhood optic nerve glioma childhood osteosarcoma childhood pilocytic astrocytoma childhood testicular germ cell tumor cholangiocarcinoma cholera cholestasis cholesteatoma chondrodysplasia-pseudohermaphroditism syndrome chondroma chondrosarcoma chordoma choreaacanthocytosis chorioangioma choriocarcinoma chromophobe renal cell carcinoma chromosome 10q23 deletion syndrome chronic fatigue syndrome chronic kidney disease chronic lymphocytic leukemia chronic monocytic leukemia chronic myeloid leukemia chronic obstructive pulmonary disease ciliary body disease clear cell meningioma clear cell renal cell carcinoma cocaine abuse cocaine dependence colitis collecting duct carcinoma colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common wart communicating hydrocephalus complement deficiency cone-rod dystrophy 2 cone-rod dystrophy congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital hypogammaglobulinemia congenital hypothyroidism congestive heart failure connective tissue disease corneal disease coronary artery disease coronary thrombosis craniosynostosis cribriform carcinoma cutaneous Paget's disease cystadenoma cystic fibrosis cystic kidney disease cystitis deafness-dystonia-optic neuronopathy syndrome dedifferentiated liposarcoma degeneration of macula and posterior pole degenerative disc disease dementia dengue disease dengue hemorrhagic fever denture stomatitis depressive disorder dermatitis dermatosis papulosa nigra diabetes insipidus diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy diarrhea differentiated thyroid gland carcinoma diffuse large B-cell lymphoma dilated cardiomyopathy 1A dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy disease of metabolism distal arthrogryposis duodenum cancer dysembryoplastic neuroepithelial tumor dysthymic disorder early infantile epileptic encephalopathy ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 embryoma embryonal cancer embryonal rhabdomyosarcoma encephalitis encephalomyelitis endocrine exophthalmos endometrial cancer endometrial carcinoma endometrial serous adenocarcinoma endometriosis of uterus endometriosis endomyocardial fibrosis epidermolysis bullosa acquisita epidermolysis bullosa dystrophica epilepsy episodic kinesigenic dyskinesia 1 epithelioid leiomyosarcoma epithelioid malignant peripheral nerve sheath tumor epithelioid sarcoma esophageal cancer esophageal carcinoma esophagitis esophagus adenocarcinoma esophagus squamous cell carcinoma essential hypertension essential thrombocythemia exanthem exudative vitreoretinopathy 1 exudative vitreoretinopathy familial adenomatous polyposis 1 familial adenomatous polyposis familial hyperlipidemia familial hypertrophic cardiomyopathy familial mediterranean fever familial multiple nevi flammei familial nephrotic syndrome familial retinoblastoma fibrillary astrocytoma fibrosarcoma fibrous meningioma follicular adenoma follicular lymphoma fragile X syndrome functionless pituitary adenoma gallbladder cancer gallbladder carcinoma gallbladder disease ganglioglioma gastric adenocarcinoma gastroenteritis gastroesophageal reflux disease gastrointestinal stromal tumor gastrointestinal system cancer gemistocytic astrocytoma germ cell and embryonal cancer germ cell cancer germinoma gestational diabetes gestational trophoblastic neoplasm giant cell glioblastoma gingival fibromatosis glaucoma glioblastoma gliosarcoma glomerulonephritis glomus tumor glucose intolerance gonorrhea granular cell carcinoma hairy cell leukemia head and neck cancer head and neck squamous cell carcinoma heart cancer heart disease hemangioma hematologic cancer hemiplegia hemochromatosis type 1 hemochromatosis hepatitis B hepatitis C hepatitis hepatoblastoma hepatocellular carcinoma hereditary hemorrhagic telangiectasia heroin dependence herpes simplex virus keratitis herpes simplex high grade glioma histiocytoid hemangioma hydrocephalus hyperandrogenism hyperglycemia hyperhomocysteinemia hyperinsulinism hyperostosis hypertension hyperthyroidism hypertrophic cardiomyopathy hypoglycemia hypospadias hypothalamic disease hypothyroidism idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis immune system disease impotence inflammatory and toxic neuropathy inflammatory bowel disease 1 inflammatory bowel disease inflammatory breast carcinoma influenza insulinoma intellectual disability intestinal benign neoplasm intestinal cancer intracranial aneurysm intrahepatic cholangiocarcinoma intramuscular hemangioma intraorbital meningioma intraventricular meningioma intrinsic asthma invasive ductal carcinoma inverted follicular keratosis inverted papilloma iris disease irritable bowel syndrome islet cell tumor juvenile myelomonocytic leukemia juvenile pilocytic astrocytoma juvenile polyposis syndrome keratoconjunctivitis sicca keratoconus kidney cancer kidney disease kidney rhabdoid cancer kwashiorkor large intestine cancer laryngeal benign neoplasm laryngeal carcinoma laryngeal squamous cell carcinoma larynx cancer lateral meningocele syndrome learning disability leiomyoma leiomyosarcoma leprosy leukemia leukocyte adhesion deficiency 1 leukocyte adhesion deficiency leukopenia lipoatrophic diabetes mellitus lipodystrophy lipoid nephrosis lipomatosis liposarcoma liver cancer liver carcinoma liver cirrhosis liver disease localized scleroderma lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung non-squamous non-small cell carcinoma lung oat cell carcinoma lung small cell carcinoma lung squamous cell carcinoma lupus erythematosus lupus nephritis lymphangioma lymphoblastic lymphoma lymphoid leukemia lymphoma lymphoplasmacyte-rich meningioma lymphoplasmacytic lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 macroglobulinemia macular degeneration major depressive disorder male breast cancer male infertility malignant astrocytoma malignant choroid melanoma malignant conjunctival melanoma malignant fibrous histiocytoma malignant mesothelioma malignant peripheral nerve sheath tumor malignant pleural mesothelioma mantle cell lymphoma marasmus mast-cell leukemia mastocytosis medulloblastoma medulloepithelioma medullomyoblastoma melancholic depression melanoacanthoma melanoma melanotic medulloblastoma melanotic neurilemmoma membranoproliferative glomerulonephritis meningioma meningothelial meningioma mesangial proliferative glomerulonephritis mesenchymal cell neoplasm mevalonic aciduria microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcystic adenoma microcystic meningioma microphthalmia middle cerebral artery infarction migraine mitochondrial DNA depletion syndrome mixed glioma mixed oligodendroglioma-astrocytoma mixed-type liposarcoma mood disorder morphine dependence mucinous adenocarcinoma mucoepidermoid carcinoma multicentric Castleman disease multiple endocrine neoplasia type 1 multiple myeloma multiple sclerosis multiple symmetric lipomatosis mycosis fungoides myelitis myelodysplastic syndrome myelofibrosis myeloid leukemia myeloproliferative neoplasm myocardial infarction myofibroma myopia myotonic dystrophy type 2 myxedema myxoid leiomyosarcoma myxoid liposarcoma myxopapillary ependymoma nasopharynx carcinoma neovascular inflammatory vitreoretinopathy nephritis nephroblastoma nephrolithiasis nephrosis nephrotic syndrome nervous system disease neurilemmoma neuroacanthocytosis neuroblastoma neurocirculatory asthenia neurodegenerative disease neuroectodermal tumor neuroendocrine carcinoma neuroendocrine tumor neurofibromatosis 1 neurofibromatosis neurofibrosarcoma neurohypophyseal diabetes insipidus neuromyelitis optica neuropathy neurotic disorder neutropenia newborn respiratory distress syndrome nodular prostate non-Hodgkin lymphoma non-congenital cyst of kidney nonpapillary renal cell carcinoma nutmeg liver nutrition disease obesity obsolete Matthew-Wood syndrome obsolete Opitz-GBBB syndrome obsolete T-cell lymphoblastic leukemia/lymphoma obsolete embryonal Tumor with Multilayered Rosettes, C19MC-Altered obsolete hilar cholangiocellular carcinoma obsolete lymphoplasmacytic lymphoma obsolete malignant histiocytosis obsolete melancholia obsolete multiple symmetrical lipomatosis obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma obstructive hydrocephalus obstructive jaundice obstructive nephropathy obstructive sleep apnea olfactory groove meningioma oligodendroglioma opiate dependence optic nerve glioma oropharynx cancer osteoarthritis osteoglophonic dysplasia osteomalacia osteoporosis osteosarcoma otitis media ovarian cancer ovarian carcinoma ovarian serous cystadenocarcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma pancreatic intraductal papillary-mucinous neoplasm pancreatitis panuveitis papillary adenocarcinoma papillary adenoma papillary ependymoma papillary hidradenoma papillary renal cell carcinoma papilloma parapsoriasis parasagittal meningioma parathyroid adenoma parathyroid carcinoma parathyroid gland disease patent ductus arteriosus penile benign neoplasm penile cancer penis carcinoma penis squamous cell carcinoma peptic esophagitis perinatal necrotizing enterocolitis periodontitis peripheral T-cell lymphoma peripheral nervous system disease pertussis pheochromocytoma pilocytic astrocytoma pituitary adenoma pituitary cancer pituitary carcinoma pityriasis rubra pilaris placenta cancer placental insufficiency plasmacytoma pleomorphic liposarcoma pleurisy plexiform schwannoma pneumonia polycystic kidney disease 1 polycystic ovary syndrome polycythemia vera polycythemia polymyalgia rheumatica polyneuropathy polyp of middle ear postinflammatory pulmonary fibrosis pre-eclampsia prediabetes syndrome premature ejaculation premature menopause preretinal fibrosis primary cutaneous T-cell non-Hodgkin lymphoma primary immunodeficiency disease primary mediastinal B-cell lymphoma primary ovarian insufficiency primary pulmonary hypertension prion disease prolactinoma prostate cancer prostate carcinoma prostatic adenoma protein-energy malnutrition protoplasmic astrocytoma psammomatous meningioma pseudomyxoma peritonei psoriasis psoriatic arthritis psychologic dyspareunia pterygium pulmonary fibrosis pulmonary sarcoidosis pustulosis of palm and sole pyoureter rabies recessive dystrophic epidermolysis bullosa rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma reticulosarcoma retinal disease retinitis retinoblastoma retinopathy of prematurity retrograde amnesia rhabdoid cancer rhabdomyosarcoma rheumatoid arthritis rickets salivary gland adenoid cystic carcinoma sarcoidosis sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia scleroderma sebaceous carcinoma seborrheic dermatitis seborrheic keratosis secondary hyperparathyroidism secretory meningioma seminoma senile degeneration of brain severe combined immunodeficiency severe congenital neutropenia sialuria sick sinus syndrome signet ring cell adenocarcinoma silent myocardial infarction situs inversus skin benign neoplasm skin cancer skin carcinoma skin disease skin melanoma skin squamous cell carcinoma skull base chordoma small intestine adenocarcinoma small intestine cancer spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spinal meningioma spindle cell sarcoma split hand-foot malformation 1 squamous cell carcinoma squamous cell neoplasm squamous cell papilloma status epilepticus steatotic liver disease stomach cancer stomach carcinoma stomatitis subacute delirium subependymal giant cell astrocytoma substance abuse substance-related disorder supratentorial primitive neuroectodermal tumor sweat gland cancer swine influenza syndromic X-linked intellectual disability Snyder type syndromic intellectual disability synovial sarcoma synovitis systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic lupus erythematosus systemic scleroderma tanycytic ependymoma telangiectasis temporal arteritis tenosynovitis testicular cancer testicular germ cell cancer testis seminoma thromboangiitis obliterans thymic carcinoma thymoma thymus lymphoma thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland follicular carcinoma thyroid gland medullary carcinoma thyroid gland papillary carcinoma thyroiditis thyrotoxicosis tongue cancer tongue squamous cell carcinoma tonsil cancer transient cerebral ischemia transitional cell carcinoma transitional meningioma trigonitis trilateral retinoblastoma trypanosomiasis tuberculosis tuberous sclerosis 1 tuberous sclerosis tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus type C thymoma ulcerative colitis ulcerative stomatitis ureteral obstruction uric acid nephrolithiasis urinary bladder cancer urticaria uterine cancer uterine corpus cancer uterine fibroid uveal melanoma uveitis uveoparotid fever vascular dementia vascular disease vasomotor rhinitis venous hemangioma venous insufficiency vertebrobasilar insufficiency vestibular schwannomatosis viral infectious disease visual epilepsy vitiligo von Hippel-Lindau disease xeroderma pigmentosum group C yellow fever
5297	phosphatidylinositol 4-kinase alpha	PI4KA Aliases: PI4K-ALPHA phosphatidylinositol 4-kinase III alpha phosphatidylinositol 4-kinase IIIα pi4K230	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease CEDNIK syndrome Pick's disease Reye syndrome anemia cancer cerebral degeneration chromosome 22q11.2 deletion syndrome, distal clubfoot disease of mental health hepatitis C hepatocellular carcinoma hereditary spastic paraplegia 84 hypomyelinating leukodystrophy 2 liver cancer macrocytic anemia prostate cancer prostate carcinoma psychotic disorder schizophrenia
5298	phosphatidylinositol 4-kinase beta	PI4KB Aliases: PI4K-BETA pi4K92	Homo sapiens (human)	EAST syndrome autosomal dominant nonsyndromic deafness hepatitis C severe acute respiratory syndrome
5305	phosphatidylinositol-5-phosphate 4-kinase type 2 alpha	PIP4K2A Aliases: PIP5KIIA PIP5KIIalpha	Homo sapiens (human)	Burkitt lymphoma Down syndrome acute lymphoblastic leukemia acute myeloid leukemia adult acute lymphocytic leukemia bipolar disorder breast cancer breast carcinoma cancer childhood acute lymphocytic leukemia childhood leukemia disease of mental health essential thrombocythemia giant cell glioblastoma glioblastoma hematologic cancer high grade glioma leukemia lingual-facial-buccal dyskinesia lymphoblastic lymphoma lysosomal storage disease melanoma myelodysplastic syndrome obsolete major affective disorder 1 obsolete major affective disorder 2 psychotic disorder schizophrenia skin melanoma
5310	polycystin 1, transient receptor potential channel interacting	PKD1 Aliases: PBP Pc-1 TRPP1 polycystin 1 transient receptor potential cation channel, subfamily P, member 1	Homo sapiens (human)	Alzheimer's disease Caroli disease Creutzfeldt-Jakob disease Duchenne muscular dystrophy Guillain-Barre syndrome Marfan syndrome Meckel syndrome 1 Meckel syndrome 2 Meckel syndrome 3 Meckel syndrome 4 Meckel syndrome 5 Meckel syndrome 6 Meckel syndrome 8 Meckel syndrome Moyamoya disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Streptococcus pneumonia Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 acute interstitial pneumonia acute monocytic leukemia acute myeloid leukemia acute myocardial infarction alpha thalassemia-X-linked intellectual disability syndrome alpha thalassemia-intellectual disability syndrome type 1 alpha thalassemia anaplastic astrocytoma angiomyolipoma arteriosclerotic cardiovascular disease atherosclerosis autoimmune pancreatitis autosomal dominant polycystic kidney disease autosomal recessive polycystic kidney disease azoospermia bacterial sepsis bone disease bone osteosarcoma breast adenocarcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma bullous pemphigoid cancer cardiomyopathy cartilage disease cavernous hemangioma central nervous system cancer childhood cerebral astrocytoma chorioangioma chronic kidney disease clear cell renal cell carcinoma collagen disease colorectal cancer colorectal carcinoma congenital heart disease congestive heart failure connective tissue disease coronary artery disease coronary thrombosis cutaneous fibrous histiocytoma cystic fibrosis cystic kidney disease dermoid cyst dextrocardia diabetes mellitus diabetic ketoacidosis disease of metabolism embryoma endomyocardial fibrosis epilepsy episodic kinesigenic dyskinesia 1 essential hypertension familial hypertrophic cardiomyopathy familial nephrotic syndrome fibrillary astrocytoma focal segmental glomerulosclerosis gemistocytic astrocytoma giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis glomus tumor growth hormone secreting pituitary adenoma hemangioma hemoglobin H disease hidradenoma high grade glioma histiocytoid hemangioma hyperinsulinism hypertension hypertrophic cardiomyopathy 1 hypertrophic cardiomyopathy idiopathic interstitial pneumonia idiopathic pulmonary fibrosis influenza insulinoma intracranial aneurysm intramuscular hemangioma isolated elevated serum creatine phosphokinase levels juvenile pilocytic astrocytoma keratosis follicularis kidney cancer kidney disease kidney failure large intestine cancer lipoid nephrosis lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphangioma lymphopenia malignant astrocytoma melanoma mesangial proliferative glomerulonephritis mixed glioma mongolian spot muscular dystrophy myocardial infarction nephritis nephrolithiasis nephrosis nephrotic syndrome neurofibromatosis 1 neurofibromatosis neuronal ceroid lipofuscinosis 10 neuronal ceroid lipofuscinosis 11 neuronal ceroid lipofuscinosis 13 neuronal ceroid lipofuscinosis 1 neuronal ceroid lipofuscinosis 2 neuronal ceroid lipofuscinosis 3 neuronal ceroid lipofuscinosis 4 neuronal ceroid lipofuscinosis 5 neuronal ceroid lipofuscinosis 6A neuronal ceroid lipofuscinosis 6B neuronal ceroid lipofuscinosis 7 neuronal ceroid lipofuscinosis 8 northern epilepsy variant neuronal ceroid lipofuscinosis 8 neuronal ceroid lipofuscinosis 9 neuronal ceroid lipofuscinosis non-congenital cyst of kidney nutmeg liver obesity osteosarcoma pancreatic cancer pancreatic carcinoma papilloma parapsoriasis pilocytic astrocytoma pneumonia polycystic kidney disease 1 polycystic kidney disease 2 polycystic kidney disease 3 polycystic kidney disease 4 polycystic kidney disease polycystic liver disease polycystic ovary syndrome prostate cancer prostate carcinoma protoplasmic astrocytoma pseudoxanthoma elasticum psoriasis pustulosis of palm and sole pyoureter red color blindness renal carcinoma renal cell carcinoma renovascular hypertension rheumatoid arthritis silent myocardial infarction situs inversus skin melanoma skin papilloma skin tag squamous cell papilloma stomach cancer stomach carcinoma subependymal giant cell astrocytoma syringoma thalassemia thoracic aortic aneurysm thyroid gland anaplastic carcinoma tuberous sclerosis 1 tuberous sclerosis 2 tuberous sclerosis type 2 diabetes mellitus uremia uric acid nephrolithiasis visual epilepsy
5311	polycystin 2, transient receptor potential cation channel	PKD2 Aliases: PC2 PKD4 Pc-2 TRPP2 transient receptor potential cation channel, subfamily P, member 2	Homo sapiens (human)	Marfan syndrome Meckel syndrome 1 Meckel syndrome 2 Meckel syndrome 3 Meckel syndrome 4 Meckel syndrome 5 Meckel syndrome 6 Meckel syndrome 8 Meckel syndrome Wiskott-Aldrich syndrome acute kidney failure adrenal gland cancer atrial fibrillation atrioventricular block autism spectrum disorder autistic disorder autosomal dominant polycystic kidney disease autosomal recessive polycystic kidney disease bile duct adenocarcinoma bile duct carcinoma bladder carcinoma bone disease breast cancer breast carcinoma cancer cartilage disease central nervous system cancer cerebellar ataxia, mental retardation and dysequlibrium syndrome cholangiocarcinoma chronic kidney disease ciliopathy collagen disease congenital heart disease congestive heart failure connective tissue disease cystic kidney disease disorder of sexual development distal arthrogryposis duodenum cancer embryoma episodic kinesigenic dyskinesia 1 essential hypertension familial adenomatous polyposis 1 familial adenomatous polyposis focal segmental glomerulosclerosis giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis gout heart cancer hermaphroditism high grade glioma hypertension idiopathic interstitial pneumonia idiopathic pulmonary fibrosis intracranial aneurysm intrahepatic cholangiocarcinoma islet cell tumor kidney disease kidney failure laryngeal squamous cell carcinoma lung adenocarcinoma lung cancer mixed glioma nephritis nephrosis neurodegenerative disease non-congenital cyst of kidney pheochromocytoma placental insufficiency polycystic kidney disease 1 polycystic kidney disease 2 polycystic kidney disease 4 polycystic kidney disease polycystic liver disease prostate cancer prostate carcinoma pseudohermaphroditism pyoureter retinal degeneration situs inversus small intestine cancer thoracic aortic aneurysm tuberous sclerosis uremia urinary bladder cancer
5313	pyruvate kinase L/R	PKLR	Homo sapiens (human)	Gaucher's disease acquired polycythemia anemia breast cancer breast carcinoma cancer cholecystitis cholecystolithiasis choledocholithiasis cholelithiasis colorectal cancer colorectal carcinoma congenital hemolytic anemia congenital nonspherocytic hemolytic anemia depressive disorder diabetes mellitus diabetic ketoacidosis disease of metabolism episodic kinesigenic dyskinesia 1 erythropoietin polycythemia familial erythrocytosis 1 familial erythrocytosis 2 favism gallbladder cancer gallbladder carcinoma hematopoietic system disease hemoglobinopathy hemolytic anemia hepatocellular carcinoma hereditary elliptocytosis hereditary sensory neuropathy type 4 hereditary sensory neuropathy hyperglycemia large intestine cancer liver cancer lung benign neoplasm macrocytic anemia major depressive disorder malaria melancholic depression metabolic dysfunction-associated steatotic liver disease obsolete melancholia optic atrophy 1 optic atrophy pancreatic cancer pancreatic carcinoma polycythemia vera polycythemia primary polycythemia prostate cancer prostate carcinoma pyruvate kinase deficiency of red cells sensory peripheral neuropathy stress polycythemia thalassemia type 2 diabetes mellitus
5315	pyruvate kinase M1/2	PKM Aliases: OIP3 PK3 THBP1	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell lymphoma Bloom syndrome Clostridium difficile colitis Cockayne syndrome Crohn's colitis Crohn's disease Gilles de la Tourette syndrome Klatskin's tumor Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Pick's disease Reye syndrome Van der Woude syndrome abdominal obesity-metabolic syndrome 1 acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma adult medulloblastoma amnestic disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis autoimmune disease autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome bacterial sepsis bile duct adenocarcinoma bile duct carcinoma bladder carcinoma bone osteosarcoma brain cancer brain disease breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma central nervous system cancer cerebral degeneration cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma childhood leukemia childhood medulloblastoma childhood osteosarcoma childhood type dermatomyositis cholangiocarcinoma choriocarcinoma chromophobe renal cell carcinoma chronic cholangitis chronic fatigue syndrome chronic myeloid leukemia clear cell renal cell carcinoma colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma coronary artery disease coronary thrombosis cribriform carcinoma cutaneous fibrous histiocytoma cystic fibrosis dermatomyositis disease of metabolism distal arthrogryposis embryoma encephalitis encephalomyelitis endometrial cancer endometrial carcinoma endometrial hyperplasia enterocele esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma essential hypertension gallbladder cancer gallbladder carcinoma gallbladder disease gastroenteritis gastrointestinal stromal tumor giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis glucose intolerance goiter granular cell carcinoma granulosa cell tumor head and neck cancer head and neck squamous cell carcinoma hepatitis C hepatocellular carcinoma hidradenoma high grade glioma hyperglycemia hyperhomocysteinemia hypertension ileitis ileocolitis immune system disease in situ carcinoma inflammatory bowel disease 1 inflammatory bowel disease influenza intrahepatic cholangiocarcinoma irritable bowel syndrome kidney cancer large intestine cancer leukemia liver cancer liver carcinoma liver cirrhosis liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung small cell carcinoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma microphthalmia mixed glioma multiple myeloma mycosis fungoides myelitis myeloproliferative disorder with eosinophilia myocardial infarction myositis nasopharynx carcinoma nephritis neurocirculatory asthenia nonpapillary renal cell carcinoma nontoxic goiter obesity obsolete Matthew-Wood syndrome obsolete hilar cholangiocellular carcinoma obsolete ymphosarcoma osteoarthritis osteoporosis osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma papillary adenocarcinoma papillary renal cell carcinoma papillary transitional carcinoma placenta cancer prediabetes syndrome primary cutaneous T-cell non-Hodgkin lymphoma primary cutaneous amyloidosis primary pulmonary hypertension prostate cancer prostate carcinoma psoriatic arthritis reflex sympathetic dystrophy renal carcinoma renal cell carcinoma renal infectious disease retrograde amnesia sarcomatoid carcinoma sarcomatoid renal cell carcinoma silent myocardial infarction skin benign neoplasm skin cancer skin melanoma skin papilloma skin tag squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma syringoma systemic Epstein-Barr virus positive T-cell lymphoma of childhood thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland disease thyroid gland papillary carcinoma tongue squamous cell carcinoma tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis urinary bladder cancer uterine corpus cancer viral infectious disease
5319	phospholipase A2 group IB	PLA2G1B	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Barrett's esophagus Behcet's disease Crohn's colitis Crohn's disease Glanzmann's thrombasthenia Graves' disease Guillain-Barre syndrome IgA glomerulonephritis Krabbe disease Kufor-Rakeb syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Stiff-Person syndrome West Nile fever acoustic neuroma acrodermatitis acute myocardial infarction adult respiratory distress syndrome allergic asthma allergic rhinitis angiomatous meningioma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis atopic dermatitis autoimmune disease autoimmune lymphoproliferative syndrome autosomal dominant cerebellar ataxia autosomal dominant distal hereditary motor neuronopathy 2 bacterial infectious disease bacterial sepsis basal ganglia disease benign meningioma bipolar disorder breast cancer bronchus cancer bronchus carcinoma cancer carcinoma cardiovascular system disease carotid artery disease central retinal vein occlusion cerebral convexity meningioma cerebral degeneration cerebral infarction cerebrovascular disease cholestasis chronic fatigue syndrome chronic obstructive pulmonary disease clear cell meningioma colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma coronary artery disease coronary stenosis coronary thrombosis depressive disorder dermatitis diabetes mellitus diabetic ketoacidosis dysplastic nevus syndrome dysthymic disorder embryoma encephalitis encephalomyelitis endometrial cancer endometrial carcinoma epilepsy esophagus adenocarcinoma familial adenomatous polyposis 1 familial adenomatous polyposis fibrous meningioma focal segmental glomerulosclerosis gastroduodenal Crohn's disease gastroenteritis gastrointestinal system cancer glomerulonephritis gray platelet syndrome heart disease hepatitis C hepatocellular carcinoma hyperthyroidism ileitis ileocolitis immune system disease inflammatory bowel disease 1 inflammatory bowel disease intermediate coronary syndrome intrahepatic cholestasis of pregnancy intraorbital meningioma intraventricular meningioma intrinsic asthma ischiocoxopodopatellar syndrome islet cell tumor isovaleric acidemia jejunoileitis keratitis keratoconjunctivitis keratosis follicularis kidney angiomyolipoma kidney disease large intestine cancer leiomyoma leukemia leukodystrophy liver cancer liver cirrhosis lung benign neoplasm lung cancer lung carcinoma lymphangioleiomyomatosis major depressive disorder mastitis melancholic depression melanoma membranous glomerulonephritis meningioma meningothelial meningioma microcystic meningioma mongolian spot multiple sclerosis myelitis myocardial infarction myofibroma nasopharynx carcinoma nephritis neuroaxonal dystrophy neuroblastoma neurodegeneration with brain iron accumulation 2a neurodegeneration with brain iron accumulation 2b neurodegeneration with brain iron accumulation 3 neurodegeneration with brain iron accumulation 4 neurodegeneration with brain iron accumulation 5 neurodegeneration with brain iron accumulation 6 neurodegeneration with brain iron accumulation neurodegenerative disease neurotic disorder newborn respiratory distress syndrome nutmeg liver obsolete major affective disorder 2 obsolete melancholia olfactory groove meningioma osteoarthritis ovarian cancer ovarian carcinoma pantothenate kinase-associated neurodegeneration papillary adenocarcinoma papillary renal cell carcinoma parapsoriasis parasagittal meningioma pituitary adenoma platelet-type bleeding disorder 17 platelet-type bleeding disorder 18 pneumonia prostate cancer prostate carcinoma psammomatous meningioma pseudoxanthoma elasticum psoriasis psychotic disorder pustulosis of palm and sole qualitative platelet defect rheumatoid arthritis sarcomatoid carcinoma schizoaffective disorder schizophrenia schizophreniform disorder secretory meningioma sickle cell anemia signet ring cell adenocarcinoma silent myocardial infarction skin melanoma spinal meningioma temporal arteritis thrombophilia thyroid gland papillary carcinoma thyrotoxicosis transitional meningioma ulcerative colitis uterine corpus cancer uterine fibroid vasculitis vasomotor rhinitis visual epilepsy
5320	phospholipase A2 group IIA	PLA2G2A	Homo sapiens (human)	Addison's disease Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Behcet's disease Crohn's colitis Crohn's disease Glanzmann's thrombasthenia Graves' disease Machado-Joseph disease Norum disease Pick's disease Reye syndrome Stiff-Person syndrome Tangier disease abdominal obesity-metabolic syndrome 1 abetalipoproteinemia acoustic neuroma acute chest syndrome acute myocardial infarction acute pancreatitis adenocarcinoma adenoma adrenal cortical hypofunction adult respiratory distress syndrome allergic asthma allergic conjunctivitis alternating hemiplegia of childhood anaplastic astrocytoma angiomatous meningioma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy ascending cholangitis asthma atherosclerosis autoimmune polyendocrine syndrome autonomic neuropathy autosomal dominant cerebellar ataxia bacterial infectious disease bacterial sepsis basal ganglia disease benign meningioma bipolar disorder breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiovascular system disease carotid artery disease central nervous system disease central retinal vein occlusion cerebral convexity meningioma cerebral degeneration cerebral infarction cerebrovascular disease childhood cerebral astrocytoma cholangitis cholecystolithiasis choledocholithiasis cholelithiasis cholestasis choreaacanthocytosis chronic fatigue syndrome chronic interstitial cystitis chronic kidney disease chronic obstructive pulmonary disease clear cell meningioma colitis colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital hypothyroidism congestive heart failure coronary artery disease coronary stenosis coronary thrombosis craniosynostosis cribriform carcinoma cystic fibrosis depressive disorder diabetes mellitus diabetic ketoacidosis dysplastic nevus syndrome dysthymic disorder embryoma encephalitis encephalomyelitis endometrial cancer endometrial carcinoma endometriosis of ovary endometriosis of uterus endometriosis epilepsy esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma familial adenomatous polyposis 1 familial adenomatous polyposis familial hyperlipidemia fibrillary astrocytoma fibrous meningioma fragile X-associated tremor/ataxia syndrome gastric adenocarcinoma gastroduodenal Crohn's disease gastroenteritis gastroesophageal reflux disease gemistocytic astrocytoma glomerulonephritis granular cell carcinoma gray platelet syndrome heart disease hepatitis B hepatocellular carcinoma high grade glioma human immunodeficiency virus infectious disease hyperglycemia hyperthyroidism hypolipoproteinemia hypothyroidism ileitis ileocolitis immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome inflammatory bowel disease 1 inflammatory bowel disease interstitial cystitis intestinal benign neoplasm intestinal cancer intrahepatic cholestasis of pregnancy intraorbital meningioma intraventricular meningioma intrinsic asthma ischiocoxopodopatellar syndrome islet cell tumor jejunoileitis juvenile pilocytic astrocytoma keratitis keratoconjunctivitis kidney disease large intestine cancer liver cancer liver cirrhosis lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma major depressive disorder malignant astrocytoma melancholic depression melanoma membranous glomerulonephritis meningioma meningothelial meningioma microcystic meningioma multiple sclerosis myelitis myocardial infarction myxedema nephritis nephrosis nervous system disease neuroblastoma neurodegenerative disease neurotic disorder newborn respiratory distress syndrome nontoxic goiter nutmeg liver obesity obsolete major affective disorder 1 obsolete major affective disorder 2 obsolete melancholia olfactory groove meningioma optic neuritis pancreas disease pancreatitis papillary adenocarcinoma papillary renal cell carcinoma parapsoriasis parasagittal meningioma pilocytic astrocytoma pituitary adenoma platelet-type bleeding disorder 17 platelet-type bleeding disorder 18 pleurisy pneumonia pre-eclampsia primary sclerosing cholangitis prostate cancer prostate carcinoma protoplasmic astrocytoma psammomatous meningioma pseudosarcomatous fibromatosis psoriasis pulmonary coin lesion pustulosis of palm and sole pyoureter qualitative platelet defect rheumatoid arthritis sarcomatoid carcinoma schizophrenia sclerosing cholangitis secretory meningioma sickle cell anemia signet ring cell adenocarcinoma silent myocardial infarction skin melanoma spinal meningioma stomach cancer stomach carcinoma subependymal giant cell astrocytoma suppurative cholangitis systemic lupus erythematosus temporal arteritis teratocarcinoma thrombophilia thyroid gland papillary carcinoma thyrotoxicosis transitional meningioma transthyretin amyloidosis tuberculosis tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis uterine corpus cancer vascular dementia vascular disease visual epilepsy
5321	phospholipase A2 group IVA	PLA2G4A Aliases: cPLA2-alpha	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Barrett's esophagus Burkitt lymphoma Crohn's colitis Crohn's disease Meckel syndrome Meier-Gorlin syndrome 1 Meier-Gorlin syndrome Pick's disease Reye syndrome abdominal obesity-metabolic syndrome 1 acrodermatitis actinic keratosis acute chest syndrome acute monocytic leukemia acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma adult acute monocytic leukemia adult oligodendroglioma adult respiratory distress syndrome allergic asthma alternating hemiplegia of childhood amnestic disorder amyloidosis amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 amyotrophic lateral sclerosis anaplastic astrocytoma androgen insensitivity syndrome angioedema aortic valve insufficiency arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma ataxia telangiectasia atherosclerosis autistic disorder autonomic neuropathy autosomal dominant polycystic kidney disease bacterial infectious disease bacterial sepsis benign mesothelioma bile duct adenocarcinoma bile duct carcinoma bipolar disorder blood coagulation disease blood platelet disease bone osteosarcoma brain ischemia brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cardiovascular system disease cataract celiac disease central nervous system disease cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma childhood cerebral astrocytoma childhood oligodendroglioma childhood osteosarcoma cholangiocarcinoma chronic fatigue syndrome clonorchiasis colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma coronary artery disease coronary thrombosis cribriform carcinoma cystic fibrosis deficiency anemia depressive disorder dermatitis dermoid cyst diabetes mellitus disease of metabolism distal arthrogryposis duodenal ulcer dysthymic disorder embryoma encephalitis encephalomyelitis epilepsy esophageal disease esophagus adenocarcinoma esophagus squamous cell carcinoma essential hypertension essential thrombocythemia familial adenomatous polyposis 1 familial adenomatous polyposis fibrillary astrocytoma gastric ulcer gastroenteritis gemistocytic astrocytoma giant cell glioblastoma glaucoma glioblastoma granular cell carcinoma heart disease hepatocellular carcinoma high grade glioma hyperglycemia hypertension hypochromic anemia idiopathic interstitial pneumonia ileitis ileocolitis inflammatory bowel disease 1 inflammatory bowel disease inherited metabolic disorder intestinal infectious disease intrahepatic cholangiocarcinoma intrinsic asthma islet cell tumor juvenile pilocytic astrocytoma large intestine cancer liver cancer liver cirrhosis lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma major depressive disorder malignant astrocytoma malignant mesothelioma melancholic depression melanoma microcytic anemia middle cerebral artery infarction mixed oligodendroglioma-astrocytoma mood disorder multiple sclerosis myelitis myelodysplastic syndrome myocardial infarction nervous system disease neuroaxonal dystrophy neuroblastoma neurodegeneration with brain iron accumulation 2a neurodegeneration with brain iron accumulation neurodegenerative disease neurotic disorder newborn respiratory distress syndrome obesity obsolete inherited blood coagulation disease obsolete major affective disorder 1 obsolete major affective disorder 2 obsolete melancholia oligodendroglioma osteoarthritis osteosarcoma pancreatic cancer pancreatic carcinoma papilloma pilocytic astrocytoma pneumonia polycystic kidney disease postinflammatory pulmonary fibrosis premature menopause primary open angle glaucoma primary ovarian insufficiency primary pulmonary hypertension progressive muscular atrophy prostate cancer prostate carcinoma protoplasmic astrocytoma psoriatic arthritis psychotic disorder pulmonary fibrosis rectal benign neoplasm rectum adenocarcinoma rectum cancer retrograde amnesia rheumatoid arthritis schizoaffective disorder schizophrenia schizophreniform disorder seborrheic keratosis sickle cell anemia silent myocardial infarction skin disease skin melanoma squamous cell carcinoma squamous cell papilloma squamous papillomatosis status epilepticus subependymal giant cell astrocytoma tauopathy tongue squamous cell carcinoma transitional cell carcinoma tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis ureteral obstruction urticaria visual epilepsy
5322	phospholipase A2 group V	PLA2G5	Homo sapiens (human)	acute myeloid leukemia arteriosclerotic cardiovascular disease atherosclerosis cancer central nervous system cancer coronary artery disease essential hypertension eye disease familial benign fleck retina gallbladder disease gliosarcoma high grade glioma hypereosinophilic syndrome hypertension liver disease mixed glioma neurodegenerative disease nutmeg liver obesity pneumonia schizophrenia
5329	plasminogen activator, urokinase receptor	PLAUR Aliases: CD87 UPAR URKR urokinase plasminogen activator surface receptor urokinase-type plasminogen activator (uPA) receptor	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Bloom syndrome Crohn's disease Lyme disease Pick's disease Reye syndrome acoustic neuroma acquired immunodeficiency syndrome acrodermatitis acute myeloid leukemia acute myocardial infarction acute pancreatitis adenocarcinoma adenoma adult respiratory distress syndrome allergic asthma angiomatous meningioma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis atopic dermatitis autism spectrum disorder autistic disorder bacterial sepsis basal cell carcinoma benign meningioma bladder carcinoma bone giant cell tumor bone osteosarcoma brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiovascular system disease central nervous system cancer cerebral convexity meningioma cerebral degeneration cervix uteri carcinoma in situ childhood osteosarcoma choroid plexus cancer chromophobe renal cell carcinoma chronic obstructive pulmonary disease clear cell meningioma clear cell renal cell carcinoma collecting duct carcinoma colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma coronary artery disease coronary thrombosis cribriform carcinoma dementia dermatitis diabetes mellitus diabetic ketoacidosis disease of cellular proliferation embryoma end stage renal disease epilepsy epithelioid sarcoma fibrous meningioma giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma heart disease hepatitis B hepatocellular carcinoma high grade glioma human immunodeficiency virus infectious disease hyperglycemia idiopathic interstitial pneumonia intraorbital meningioma intraventricular meningioma intrinsic asthma invasive lobular carcinoma juvenile rheumatoid arthritis kidney disease large intestine cancer liver cancer liver cirrhosis localized scleroderma lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung large cell carcinoma lung non-small cell carcinoma lung small cell carcinoma lymphoplasmacyte-rich meningioma melanoma melioidosis meningioma meningitis meningothelial meningioma microcystic meningioma microphthalmia migraine without aura mixed glioma multiple myeloma myocardial infarction nephritis nephrosis newborn respiratory distress syndrome nonpapillary renal cell carcinoma obesity obsolete Matthew-Wood syndrome olfactory groove meningioma osteoarthritis osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatitis papillary renal cell carcinoma parasagittal meningioma paroxysmal nocturnal hemoglobinuria perinatal necrotizing enterocolitis pituitary adenoma plasmacytoma polycystic ovary syndrome polycythemia vera polycythemia postinflammatory pulmonary fibrosis pre-eclampsia progressive multifocal leukoencephalopathy prostate cancer prostate carcinoma psammomatous meningioma pulmonary fibrosis pulmonary tuberculosis pyoureter renal carcinoma renal cell carcinoma rheumatoid arthritis sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma scleroderma secretory meningioma silent myocardial infarction sinusitis skin melanoma spinal meningioma spindle cell sarcoma squamous cell carcinoma status epilepticus stomach cancer systemic scleroderma tarsal-carpal coalition syndrome tongue cancer tongue squamous cell carcinoma transitional cell carcinoma transitional meningioma tuberculosis tubular adenocarcinoma type 2 diabetes mellitus urinary bladder cancer vascular skin disease viral infectious disease visual epilepsy
5330	phospholipase C beta 2	PLCB2 Aliases: FLJ38135	Homo sapiens (human)	acute myocardial infarction adenocarcinoma adenoma breast cancer breast carcinoma cancer congenital heart disease coronary thrombosis cribriform carcinoma embryoma granular cell carcinoma hepatocellular carcinoma invasive ductal carcinoma liver cancer melanoma myocardial infarction obesity silent myocardial infarction skin melanoma tubular adenocarcinoma viral infectious disease
5331	phospholipase C beta 3	PLCB3	Homo sapiens (human)	acrodermatitis acute myocardial infarction adenocarcinoma adenoma adrenal carcinoma adrenal cortex cancer adrenocortical carcinoma cancer coronary thrombosis cribriform carcinoma cystic fibrosis dermatitis diabetes mellitus diabetic ketoacidosis essential hypertension extragonadal germ cell cancer granular cell carcinoma hyperparathyroidism hypertension lung cancer lung disease lung non-small cell carcinoma multiple endocrine neoplasia type 1 myocardial infarction neuroendocrine carcinoma neuroendocrine tumor obesity osteitis fibrosa silent myocardial infarction spondylometaphyseal dysplasia with corneal dystrophy tubular adenocarcinoma type 2 diabetes mellitus vitiligo
5332	phospholipase C beta 4	PLCB4	Homo sapiens (human)	46,XY sex reversal Chagas disease Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease X-linked recessive 4 Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease dominant intermediate A Charcot-Marie-Tooth disease dominant intermediate B Charcot-Marie-Tooth disease dominant intermediate C Charcot-Marie-Tooth disease dominant intermediate D Charcot-Marie-Tooth disease dominant intermediate E Charcot-Marie-Tooth disease dominant intermediate F Charcot-Marie-Tooth disease recessive intermediate B Charcot-Marie-Tooth disease recessive intermediate C Charcot-Marie-Tooth disease recessive intermediate D Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2A2A Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease type 3 Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4K Charcot-Marie-Tooth disease Kawasaki disease abdominal obesity-metabolic syndrome 1 absence epilepsy acute chest syndrome acute myeloid leukemia adenocarcinoma adenoma agenesis of the corpus callosum with peripheral neuropathy agnosia ankylosis bipolar disorder breast cancer breast carcinoma cancer central sleep apnea childhood absence epilepsy childhood acute myeloid leukemia cleft palate congenital ptosis coronary aneurysm cribriform carcinoma cutaneous fibrous histiocytoma dengue hemorrhagic fever depressive disorder embryoma endometriosis of uterus endometriosis essential thrombocythemia gastrointestinal stromal tumor granular cell carcinoma hereditary neuropathy with liability to pressure palsies hidradenoma isolated cleft palate lung cancer lung non-small cell carcinoma major depressive disorder melancholic depression melanoma mood disorder motor peripheral neuropathy myelodysplastic syndrome neurotic disorder nicotine dependence obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum obsolete melancholia obstructive sleep apnea ptosis retinal degeneration retinal disease schizoaffective disorder schizophrenia schizophreniform disorder sensorineural hearing loss skin melanoma skin papilloma skin tag syringoma tongue disease trypanosomiasis tubular adenocarcinoma uveal melanoma
5333	phospholipase C delta 1	PLCD1 Aliases: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 Phospholipase C δ1	Homo sapiens (human)	Alzheimer's disease Marfan syndrome actinic keratosis alopecia amyotrophic lateral sclerosis arthritis arthropathy blepharitis breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma chronic myeloid leukemia colorectal cancer colorectal carcinoma congestive heart failure coronary artery disease coronary artery vasospasm cystic fibrosis diabetes mellitus embryoma esophagus squamous cell carcinoma essential hypertension glycoproteinosis hypertension impulse control disorder intermittent explosive disorder irritant dermatitis kleptomania large intestine cancer lung benign neoplasm lung cancer lung carcinoma microphthalmia mucolipidosis II alpha/beta nephrolithiasis nonsyndromic congenital nail disorder 3 obsolete Matthew-Wood syndrome obsolete asthenopia osteoarthritis parapsoriasis progressive muscular atrophy psoriasis pustulosis of palm and sole sarcomatoid carcinoma seborrheic keratosis situs inversus skin disease squamous cell carcinoma stomach cancer stomach carcinoma tongue squamous cell carcinoma tuberous sclerosis 1 tuberous sclerosis type 2 diabetes mellitus uric acid nephrolithiasis
5335	phospholipase C gamma 1	PLCG1 Aliases: NCKAP3 PLC-II PLC148 PLCgamma1	Homo sapiens (human)	Alzheimer's disease Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Kaposi's sarcoma Meckel syndrome Miller-Dieker lissencephaly syndrome Richter's syndrome SADDAN Sezary's disease T-cell acute lymphoblastic leukemia X-linked lymphoproliferative syndrome 1 X-linked lymphoproliferative syndrome 2 abdominal obesity-metabolic syndrome 1 achondroplasia acute monocytic leukemia acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma adult T-cell leukemia/lymphoma allergic asthma angioedema angioimmunoblastic T-cell lymphoma angiosarcoma arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis atrial fibrillation autosomal dominant polycystic kidney disease bacterial sepsis bipolar disorder bone osteosarcoma borderline personality disorder breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer candidiasis carcinoma central nervous system cancer cerebral infarction cerebrovascular disease childhood angiosarcoma childhood osteosarcoma chromosome 17p13.1 deletion syndrome chronic lymphocytic leukemia colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congestive heart failure coronary artery disease cribriform carcinoma depressive disorder diabetes mellitus diabetic ketoacidosis embryoma epilepsy essential hypertension essential thrombocythemia familial adenomatous polyposis focal segmental glomerulosclerosis fragile X syndrome gastric adenocarcinoma gastroenteritis giant cell glioblastoma glioblastoma gliosarcoma glycoproteinosis granular cell carcinoma hepatocellular carcinoma high grade glioma hypertension ileitis ileocolitis immune system disease impulse control disorder intermittent explosive disorder intrinsic asthma irritant dermatitis kleptomania large intestine cancer laryngeal squamous cell carcinoma leukemia lissencephaly liver angiosarcoma liver cancer luminal breast carcinoma A lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma major depressive disorder maturity-onset diabetes of the young melancholic depression mixed glioma mucolipidosis II alpha/beta myelodysplastic syndrome obsolete melancholia oral candidiasis oral squamous cell carcinoma osteoarthritis osteosarcoma ovarian cancer ovarian carcinoma placental insufficiency primary cutaneous T-cell non-Hodgkin lymphoma prostate cancer prostate carcinoma sarcomatoid carcinoma schizophrenia squamous cell carcinoma steatotic liver disease tongue squamous cell carcinoma tubular adenocarcinoma type 2 diabetes mellitus urticaria visual epilepsy
5336	phospholipase C gamma 2	PLCG2	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Burkitt lymphoma CINCA Syndrome Creutzfeldt-Jakob disease Crohn's colitis Crohn's disease Hailey-Hailey disease Lewy body dementia Muckle-Wells syndrome Pick's disease Reye syndrome Richter's syndrome Rothmund-Thomson syndrome acute lymphoblastic leukemia acute myeloid leukemia adenosarcoma age related macular degeneration allergic rhinitis angioedema autoimmune disease autoimmune lymphoproliferative syndrome autoimmune thyroiditis autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa autosomal recessive cutis laxa type IA autosomal recessive cutis laxa type IB autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIB autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID autosomal recessive cutis laxa type IIIA autosomal recessive cutis laxa type IIIB bone osteosarcoma breast cancer breast carcinoma bronchiolitis cancer candidiasis cellulitis central nervous system lymphoma cerebral degeneration cherubism childhood osteosarcoma childhood type dermatomyositis chronic lymphocytic leukemia coronary artery disease cutis laxa degeneration of macula and posterior pole dermatomyositis diffuse large B-cell lymphoma embryoma exostosis familial adenomatous polyposis 1 familial adenomatous polyposis familial cold autoinflammatory syndrome 1 familial cold autoinflammatory syndrome 3 familial cold autoinflammatory syndrome 4 familial cold autoinflammatory syndrome granuloma annulare hepatocellular carcinoma immune system disease inflammatory bowel disease 1 inflammatory bowel disease interstitial lung disease islet cell tumor kidney cancer leukemia lipoid nephrosis liver cancer lymphoma lymphoplasmacytic lymphoma macroglobulinemia macular degeneration mal de Meleda nephroblastoma neurodegenerative disease obsolete lymphoplasmacytic lymphoma obsolete ymphosarcoma oral candidiasis osteoporosis osteosarcoma progressive supranuclear palsy restrictive dermopathy rheumatoid arthritis stomach cancer thrombophilia ulcerative colitis urticaria vasomotor rhinitis vitiligo
5337	phospholipase D1	PLD1 Aliases: choline phosphatase 1	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome acral lentiginous melanoma acute myocardial infarction adult respiratory distress syndrome allergic asthma amnestic disorder anaplastic astrocytoma arthritis arthropathy asthma atrial heart septal defect 1 atrial heart septal defect 2 atrial heart septal defect 3 atrial heart septal defect 4 atrial heart septal defect 5 atrial heart septal defect 6 atrial heart septal defect 7 atrial heart septal defect 8 atrial heart septal defect 9 atrial heart septal defect autoimmune disease autoimmune lymphoproliferative syndrome bacterial sepsis bone osteosarcoma brain infarction breast cancer breast carcinoma cancer candidiasis carcinoma central nervous system cancer cerebral degeneration childhood cerebral astrocytoma childhood osteosarcoma chromophobe renal cell carcinoma chronic kidney disease clear cell renal cell carcinoma colitis collecting duct carcinoma colorectal cancer colorectal carcinoma complex partial epilepsy congestive heart failure coronary thrombosis dementia developmental cardiac valvular defect diabetes mellitus disseminated intravascular coagulation embryoma epilepsy fibrillary astrocytoma gastroenteritis gemistocytic astrocytoma gliosarcoma high grade glioma hydronephrosis ileitis ileocolitis immune system disease inguinal hernia intrinsic asthma juvenile pilocytic astrocytoma large intestine cancer malignant astrocytoma melanoma microphthalmia middle cerebral artery infarction mitral valve insufficiency mitral valve prolapse mitral valve stenosis mixed glioma multiple sclerosis myocardial infarction newborn respiratory distress syndrome nodular prostate nonpapillary renal cell carcinoma obesity obsolete Matthew-Wood syndrome oral candidiasis osteosarcoma pancreatic ductal adenocarcinoma papillary renal cell carcinoma patent foramen ovale pilocytic astrocytoma pneumonia postural orthostatic tachycardia syndrome primary immunodeficiency disease prostate cancer prostate carcinoma prostatic adenoma protoplasmic astrocytoma pterygium purpura fulminans relapsing-remitting multiple sclerosis renal carcinoma renal cell carcinoma retrograde amnesia rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma silent myocardial infarction skin melanoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma temporal lobe epilepsy tricuspid atresia tricuspid valve insufficiency tricuspid valve prolapse type 2 diabetes mellitus urethral diverticulum visual epilepsy
5338	phospholipase D2	PLD2 Aliases: choline phosphatase 2	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome abdominal obesity-metabolic syndrome 1 actinic keratosis amnestic disorder anaplastic astrocytoma anodontia basal cell carcinoma brain infarction breast cancer breast carcinoma cancer carcinoma central nervous system cancer central nervous system lymphoma cerebral degeneration childhood cerebral astrocytoma chromophobe renal cell carcinoma chronic kidney disease clear cell renal cell carcinoma colitis collecting duct carcinoma colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma complex partial epilepsy congestive heart failure developmental cardiac valvular defect embryoma epilepsy epithelioid sarcoma essential hypertension fibrillary astrocytoma gastroenteritis gemistocytic astrocytoma giant cell glioblastoma glioblastoma gliosarcoma high grade glioma hypertension ileitis ileocolitis in situ carcinoma inverted follicular keratosis juvenile pilocytic astrocytoma keratoacanthoma kwashiorkor large intestine cancer lymphoid leukemia lymphoma malignant astrocytoma marasmus melanoacanthoma mixed glioma myeloid leukemia nonpapillary renal cell carcinoma nutrition disease obsolete ymphosarcoma papillary adenocarcinoma papillary renal cell carcinoma penis carcinoma in situ pilocytic astrocytoma pneumonia prostate cancer prostate carcinoma protein-energy malnutrition protoplasmic astrocytoma renal carcinoma renal cell carcinoma retinal disease retinitis retrograde amnesia sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma seborrheic keratosis skin disease spindle cell sarcoma squamous cell carcinoma subependymal giant cell astrocytoma systemic lupus erythematosus temporal lobe epilepsy thyroid gland papillary carcinoma tongue squamous cell carcinoma tooth agenesis vascular cancer visual epilepsy
5372	phosphomannomutase 1	PMM1 Aliases: Sec53 brain glucose-1,6-bisphosphatase	Homo sapiens (human)	congenital disorder of glycosylation Ia congenital disorder of glycosylation type I hepatitis
5373	phosphomannomutase 2	PMM2 Aliases: CDG1a CDGS Congenital disorder of glycosylation, type Ia PMI PMI1 mannose-6-phosphate isomerase phosphomannose isomerase 1	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Dandy-Walker syndrome Duchenne muscular dystrophy Hailey-Hailey disease Kallmann syndrome Marfan syndrome Meckel syndrome Pick's disease Reye syndrome Rothmund-Thomson syndrome Sheehan syndrome West syndrome Zollinger-Ellison syndrome acute myeloid leukemia acute myocardial infarction androgen insensitivity syndrome antithrombin III deficiency anxiety disorder aspiration pneumonia aspiration pneumonitis autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal dominant polycystic kidney disease autosomal recessive chronic granulomatous disease 1 autosomal recessive cutis laxa type IA autosomal recessive cutis laxa type IB autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIB autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID autosomal recessive cutis laxa type IIIA autosomal recessive cutis laxa type IIIB autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy blindness brain ischemia cancer cardiomyopathy cardiovascular system disease cataract cerebellar ataxia cerebellar disease cerebral degeneration cerebral palsy chronic granulomatous disease clubfoot coloboma of optic nerve colorectal cancer colorectal carcinoma cone-rod dystrophy congenital diaphragmatic hernia congenital disorder of glycosylation Ia congenital disorder of glycosylation Ib congenital disorder of glycosylation Id congenital disorder of glycosylation Ie congenital disorder of glycosylation In congenital disorder of glycosylation Iq congenital disorder of glycosylation type I congenital disorder of glycosylation congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital hypothyroidism congenital muscular dystrophy congenital nystagmus coronary thrombosis critical illness polyneuropathy cryptorchidism cutis laxa cystic kidney disease developmental and epileptic encephalopathy 36 diabetes mellitus diabetic autonomic neuropathy diabetic ketoacidosis diabetic neuropathy diabetic polyneuropathy diarrhea disease of metabolism dissociated nystagmus distal myopathy egg allergy elephantiasis embryoma endomyocardial fibrosis epilepsy esotropia essential hypertension facioscapulohumeral muscular dystrophy familial hemiplegic migraine 1 familial hemiplegic migraine familial hyperinsulinemic hypoglycemia 1 familial hyperinsulinemic hypoglycemia 2 familial hypertrophic cardiomyopathy familial nephrotic syndrome fundus albipunctatus gallbladder disease generalized anxiety disorder heart disease hemiplegia hemopericardium hyperinsulinemic hypoglycemia hyperinsulinism hypertension hypertrophic cardiomyopathy hypertropia hypogonadism hypogonadotropic hypogonadism 1 with or without anosmia hypogonadotropic hypogonadism 10 with or without anosmia hypogonadotropic hypogonadism 11 with or without anosmia hypogonadotropic hypogonadism 12 with or without anosmia hypogonadotropic hypogonadism 13 with or without anosmia hypogonadotropic hypogonadism 14 with or without anosmia hypogonadotropic hypogonadism 16 with or without anosmia hypogonadotropic hypogonadism 17 with or without anosmia hypogonadotropic hypogonadism 18 with or without anosmia hypogonadotropic hypogonadism 19 with or without anosmia hypogonadotropic hypogonadism 2 with or without anosmia hypogonadotropic hypogonadism 20 with or without anosmia hypogonadotropic hypogonadism 21 with or without anosmia hypogonadotropic hypogonadism 22 with or without anosmia hypogonadotropic hypogonadism 3 with or without anosmia hypogonadotropic hypogonadism 4 with or without anosmia hypogonadotropic hypogonadism 5 with or without anosmia hypogonadotropic hypogonadism 6 with or without anosmia hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic hypogonadism 8 with or without anosmia hypogonadotropic hypogonadism 9 with or without anosmia hypogonadotropic hypogonadism hypopituitarism hypothyroidism inflammatory and toxic neuropathy inherited metabolic disorder intellectual disability isolated growth hormone deficiency type IA isolated growth hormone deficiency type IB isolated growth hormone deficiency type II isolated growth hormone deficiency type III isolated growth hormone deficiency large intestine cancer learning disability limb-girdle muscular dystrophy lingual-facial-buccal dyskinesia lipoatrophic diabetes mellitus lipodystrophy lipoid nephrosis liver cirrhosis liver disease lung adenocarcinoma lung cancer lymphedema mal de Meleda marasmus mechanical strabismus meningoencephalitis microcephaly migraine with aura monocular esotropia movement disease muscular dystrophy myocardial infarction myofibrillar myopathy 1 myofibrillar myopathy 3 myopia myxedema nephrotic syndrome neuropathy non-congenital cyst of kidney obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obsolete infantile epileptic encephalopathy oculopharyngeal muscular dystrophy olivopontocerebellar atrophy open-angle glaucoma ophthalmoplegia osteoporosis panhypopituitarism pathologic nystagmus pericardial effusion pericarditis peripheral nervous system disease periventricular leukomalacia phobic disorder polyhydramnios polyneuropathy premature menopause primary open angle glaucoma primary ovarian insufficiency protein C deficiency protein S deficiency proteinuria pulmonary valve stenosis restrictive dermopathy retinitis pigmentosa rippling muscle disease 2 schizophrenia scoliosis silent myocardial infarction situs inversus spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spontaneous ocular nystagmus steatotic liver disease strabismus thrombocytopenia thrombocytosis thrombophilia tuberous sclerosis type 2 diabetes mellitus visual epilepsy visual pathway disease

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