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 **2476 - 2500** of **393515** in total

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Gene ID	Gene Name	Gene Symbol	Organism	Disease Ontology ▼
22914	killer cell lectin like receptor K1	KLRK1 Aliases: CD314 KLR NKG2-D NKG2D	Homo sapiens (human)	B-cell lymphoma Barrett's esophagus Behcet's disease Burkitt lymphoma Crohn's colitis Crohn's disease Ewing sarcoma Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Kaposi's sarcoma Kawasaki disease Langerhans-cell histiocytosis Sezary's disease X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia acute leukemia acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma adult lymphoma alopecia alveolar echinococcosis anogenital venereal wart arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asbestosis ataxia telangiectasia atherosclerosis atypical chronic myeloid leukemia, BCR-ABL1 negative autoimmune disease autoimmune hepatitis autoimmune lymphoproliferative syndrome basal cell carcinoma benign deep fibrous histiocytoma benign mesothelioma bile duct adenocarcinoma bile duct carcinoma bone osteosarcoma breast cancer breast carcinoma bronchiolitis obliterans bronchiolitis bronchus cancer bronchus carcinoma byssinosis cancer carcinoma celiac disease central nervous system cancer cervical adenocarcinoma cervical cancer cervix carcinoma cervix uteri carcinoma in situ childhood acute myeloid leukemia childhood leukemia childhood lymphoma childhood osteosarcoma cholangiocarcinoma chronic fatigue syndrome chronic monocytic leukemia chronic obstructive pulmonary disease colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congestive heart failure coronary artery disease coronary thrombosis cribriform carcinoma cutaneous fibrous histiocytoma diabetes mellitus diabetic ketoacidosis distal arthrogryposis embryoma encephalitis encephalomyelitis endometriosis of uterus endometriosis epithelioid sarcoma esophagus squamous cell carcinoma familial adenomatous polyposis 1 familial adenomatous polyposis familial hyperlipidemia familial retinoblastoma fibrosarcoma gallbladder disease gastrointestinal system cancer giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma hepatitis A hepatitis B hepatitis C hepatitis hepatocellular carcinoma high grade glioma histiocytoma hyperglycemia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis immune system disease inflammatory bowel disease 1 inflammatory bowel disease intrahepatic cholangiocarcinoma islet cell tumor large intestine cancer leukemia leukocyte adhesion deficiency 1 leukocyte adhesion deficiency liver cancer liver carcinoma liver disease lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lupus erythematosus lymphoblastic lymphoma lymphoid leukemia lymphoma lymphoproliferative syndrome malignant mesothelioma melanoma mixed glioma monoclonal gammopathy of uncertain significance monocytic leukemia multiple myeloma multiple sclerosis myelitis myeloid leukemia myocardial infarction myocarditis nasopharynx carcinoma neuroblastoma non-Hodgkin lymphoma obsolete ymphosarcoma osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancytopenia paroxysmal nocturnal hemoglobinuria primary sclerosing cholangitis prolactinoma prostate cancer prostate carcinoma refractory plasma cell neoplasm reticulohistiocytic granuloma reticulosarcoma retinoblastoma rheumatoid arthritis sarcoma sclerosing cholangitis sclerosing hemangioma sebaceous carcinoma silent myocardial infarction skin melanoma spindle cell sarcoma spondyloarthropathy spondylosis squamous cell carcinoma squamous cell neoplasm stomach cancer stomach carcinoma sweat gland cancer systemic lupus erythematosus temporal arteritis thyroid gland anaplastic carcinoma tongue squamous cell carcinoma trilateral retinoblastoma tropical spastic paraparesis tuberculosis tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis viral infectious disease
6382	syndecan 1	SDC1 Aliases: CD138 SYND1 syndecan syndecan proteoglycan 1	Homo sapiens (human)	B-cell lymphoma Bannayan-Riley-Ruvalcaba syndrome Burkitt lymphoma Cowden syndrome Crohn's colitis Crohn's disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma, nodular sclerosis Hodgkin's lymphoma IgG4-related disease Kaposi's sarcoma Kawasaki disease POEMS syndrome Richter's syndrome acquired hyperkeratosis acquired immunodeficiency syndrome acrodermatitis actinic keratosis acute myocardial infarction adenocarcinoma adenoid cystic carcinoma adenoma adhesions of uterus adult fibrosarcoma adult liposarcoma adult medulloblastoma allergic contact dermatitis ameloblastoma amyloidosis antithrombin III deficiency aortic valve disease 2 aortic valve stenosis 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 infectious disease bacterial sepsis basal cell carcinoma benign mesothelioma benign peritoneal mesothelioma bile duct adenocarcinoma bile duct carcinoma bladder carcinoma bladder urothelial carcinoma blood coagulation disease bone disease bone osteosarcoma breast cancer breast carcinoma breast ductal carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiac arrest cartilage disease celiac disease central nervous system cancer central nervous system lymphoma cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma childhood liposarcoma childhood medulloblastoma cholangiocarcinoma choriocarcinoma chromophobe renal cell carcinoma chronic fatigue syndrome chronic kidney disease chronic lymphocytic leukemia clear cell adenocarcinoma clear cell renal cell carcinoma colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common variable immunodeficiency common wart congestive heart failure connective tissue disease coronary artery disease coronary thrombosis craniosynostosis cribriform carcinoma dedifferentiated liposarcoma dermatitis dermoid cyst diabetes mellitus diabetic cataract diabetic retinopathy diffuse large B-cell lymphoma dilated cardiomyopathy 1A dilated cardiomyopathy disseminated intravascular coagulation diverticulitis of colon embryoma encephalitis encephalomyelitis endometrial cancer endometrial carcinoma essential hypertension extramedullary plasmacytoma familial hyperlipidemia familial nephrotic syndrome fibrolamellar carcinoma fibrosarcoma follicular lymphoma gallbladder cancer gallbladder carcinoma gallbladder disease gastroenteritis gastrointestinal system cancer giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis gonorrhea granular cell carcinoma granular corneal dystrophy 2 hair follicle neoplasm head and neck squamous cell carcinoma heavy chain disease hematologic cancer hepatitis C hepatitis hepatocellular carcinoma high grade glioma human immunodeficiency virus infectious disease hyperglycemia hypertension idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis immune system disease immunoglobulin alpha deficiency impotence inclusion body myositis inflammatory bowel disease 1 inflammatory bowel disease inflammatory breast carcinoma influenza interstitial nephritis intrahepatic cholangiocarcinoma invasive ductal carcinoma keratoacanthoma kidney disease kidney failure large intestine cancer leukemia lipoid nephrosis liposarcoma liver cancer liver cirrhosis liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 malaria malignant mesothelioma medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma mesenchymal cell neoplasm microphthalmia mixed glioma monoclonal gammopathy of uncertain significance monoclonal paraproteinemia multiple myeloma multiple sclerosis myelitis myocardial infarction myoepithelioma nasopharynx carcinoma nephritis nephrosis nephrotic syndrome neuroblastoma neuroendocrine carcinoma neuroendocrine tumor neuromyelitis optica obesity obsolete Matthew-Wood syndrome obsolete constipation obsolete inherited blood coagulation disease obsolete ymphosarcoma optic neuritis osteoarthritis osteosarcoma ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma papillary renal cell carcinoma papilloma parapsoriasis peritoneal mesothelioma pilomatrixoma placenta cancer placental insufficiency plasma cell neoplasm plasmacytoma pleomorphic liposarcoma pneumonia polycythemia vera polyp of corpus uteri postinflammatory pulmonary fibrosis pre-eclampsia premature ejaculation primary ciliary dyskinesia 1 primary ciliary dyskinesia primary immunodeficiency disease primary sclerosing cholangitis proliferative diabetic retinopathy prostate cancer prostate carcinoma protein C deficiency protein S deficiency proteinuria psoriasis psychologic dyspareunia pulmonary fibrosis purpura fulminans pustulosis of palm and sole pyelitis pyelonephritis pyoureter refractory plasma cell neoplasm relapsing-remitting multiple sclerosis renal cell carcinoma renal infectious disease renal oncocytoma rheumatoid arthritis salivary gland adenoid cystic carcinoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma scleroderma sclerosing cholangitis sebaceous carcinoma selective IgA deficiency disease silent myocardial infarction skin benign neoplasm skin cancer skin melanoma skin squamous cell carcinoma squamous cell carcinoma squamous cell papilloma stomach cancer stomach carcinoma subacute sclerosing panencephalitis sweat gland cancer systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic lupus erythematosus systemic scleroderma thrombophilia thyroid adenoma thyroid cancer thyroid gland carcinoma tongue squamous cell carcinoma transitional cell carcinoma tuberculosis tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis uremia urinary bladder cancer uterine corpus cancer uterus leiomyosarcoma
8644	aldo-keto reductase family 1 member C3	AKR1C3 Aliases: 3-alpha hydroxysteroid dehydrogenase, type II DDX HAKRB KIAA0119 PGFS dihydrodiol dehydrogenase X prostaglandin F synthase	Homo sapiens (human)	B-cell lymphoma B-lymphoblastic leukemia/lymphoma Langerhans-cell histiocytosis T-cell acute lymphoblastic leukemia Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 acrodermatitis acute lymphoblastic leukemia acute myeloid leukemia adenocarcinoma adenoma adenosarcoma adrenal adenoma adrenal carcinoma adrenal cortex cancer adrenocortical carcinoma adult acute lymphocytic leukemia alcohol dependence alcohol use disorder anaplastic astrocytoma androgen insensitivity syndrome anxiety disorder aortic valve insufficiency atopic dermatitis benign mesothelioma bladder carcinoma breast cancer breast carcinoma breast ductal carcinoma bronchus cancer bronchus carcinoma cancer carcinoma castration-resistant prostate carcinoma cervical adenocarcinoma cervical cancer cervix carcinoma childhood acute lymphocytic leukemia childhood cerebral astrocytoma childhood germ cell cancer childhood leukemia choriocarcinoma chromophobe renal cell carcinoma chronic myeloid leukemia cicatricial pemphigoid clear cell renal cell carcinoma collecting duct carcinoma colon cancer colonic benign neoplasm colorectal cancer cribriform carcinoma dermatitis dermoid cyst of ovary dermoid cyst disease of metabolism disorder of sexual development ductal carcinoma in situ embryoma embryonal cancer endometrial adenocarcinoma endometrial cancer endometrial carcinoma endometrial hyperplasia endometriosis of ovary endometriosis of uterus endometriosis epilepsy esophageal cancer esophageal carcinoma essential hypertension fibrillary astrocytoma gemistocytic astrocytoma generalized anxiety disorder germ cell and embryonal cancer germ cell cancer germinoma glaucoma granular cell carcinoma hepatocellular carcinoma hermaphroditism high grade glioma hyperandrogenism hyperinsulinism hypertension juvenile pilocytic astrocytoma kidney cancer large intestine cancer leukemia liver cancer liver carcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma malignant astrocytoma malignant mesothelioma nephroblastoma non-Hodgkin lymphoma nonpapillary renal cell carcinoma obesity obsolete ymphosarcoma ovarian cancer ovarian carcinoma panic disorder papillary renal cell carcinoma papillary transitional carcinoma parapsoriasis parathyroid adenoma parathyroid carcinoma phobic disorder pilocytic astrocytoma placenta cancer polycystic ovary syndrome pre-eclampsia prostate adenocarcinoma prostate cancer prostate carcinoma protoplasmic astrocytoma pseudohermaphroditism psoriasis pustulosis of palm and sole renal carcinoma renal cell carcinoma reticulosarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma skin squamous cell carcinoma squamous cell carcinoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma tongue squamous cell carcinoma tubular adenocarcinoma urinary bladder cancer uterine corpus cancer
2526	fucosyltransferase 4	FUT4 Aliases: FUC-TIV alpha (1,3) fucosyltransferase, myeloid-specific galactoside 3-L-fucosyltransferase	Homo sapiens (human)	B-cell adult acute lymphocytic leukemia Barrett's esophagus Burkitt lymphoma Castleman disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Kimura disease Leber congenital amaurosis 1 T-cell acute lymphoblastic leukemia acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute myocardial infarction acute promyelocytic leukemia adenocarcinoma adenoma adenosarcoma adult T-cell leukemia/lymphoma adult acute lymphocytic leukemia adult medulloblastoma arthropathy autosomal recessive distal hereditary motor neuronopathy 1 bacterial sepsis benign mesothelioma benign peritoneal mesothelioma beta thalassemia bladder carcinoma bladder urothelial carcinoma bone marrow cancer brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer candidiasis carcinoma cardiomyopathy celiac disease central nervous system cancer chancroid childhood B-cell acute lymphoblastic leukemia childhood acute lymphocytic leukemia childhood leukemia childhood medulloblastoma chromophobe renal cell carcinoma chronic monocytic leukemia chronic myeloid leukemia chronic myelomonocytic leukemia clear cell adenocarcinoma clear cell renal cell carcinoma collecting duct carcinoma colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital disorder of glycosylation type II congenital disorder of glycosylation type IIc coronary thrombosis cribriform carcinoma cystic fibrosis embryoma embryonal carcinoma endometrial adenocarcinoma endomyocardial fibrosis esophagus squamous cell carcinoma essential thrombocythemia familial adenomatous polyposis 1 familial adenomatous polyposis familial medullary thyroid carcinoma follicular adenoma gastric ulcer gastritis gastrointestinal system cancer giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma head and neck squamous cell carcinoma hepatocellular carcinoma high grade glioma hypertrophic cardiomyopathy inflammatory bowel disease 1 inflammatory bowel disease islet cell tumor juvenile myelomonocytic leukemia large intestine cancer laryngeal carcinoma larynx cancer leptospirosis leukemia leukocyte adhesion deficiency 2 leukocyte adhesion deficiency liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoblastic lymphoma lymphogranuloma venereum malignant mesothelioma medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma microcystic adenoma microphthalmia mixed glioma monoclonal gammopathy of uncertain significance multiple endocrine neoplasia type 1 multiple endocrine neoplasia type 2A mycosis fungoides myelodysplastic syndrome myeloproliferative neoplasm myocardial infarction myocarditis necrotizing ulcerative gingivitis nephroblastoma neuromyelitis optica nonpapillary renal cell carcinoma obsolete Matthew-Wood syndrome obsolete T-cell lymphoblastic leukemia/lymphoma obsolete leukocyte-adhesion deficiency syndrome osteoarthritis pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary adenoma papillary carcinoma papillary renal cell carcinoma paroxysmal nocturnal hemoglobinuria peptic ulcer disease peritoneal mesothelioma primary mediastinal B-cell lymphoma prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma septic arthritis silent myocardial infarction skin melanoma squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma teratocarcinoma thrombosis thyroid gland medullary carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma tubular adenocarcinoma ulcerative colitis urinary bladder cancer yaws
933	CD22 molecule	CD22 Aliases: SIGLEC-2 SIGLEC2 sialic acid binding Ig-like lectin 2	Homo sapiens (human)	B-cell adult acute lymphocytic leukemia B-cell lymphoma Burkitt lymphoma CREST syndrome HCL-V Langerhans-cell histiocytosis Niemann-Pick disease type C1 Niemann-Pick disease Richter's syndrome T-cell acute lymphoblastic leukemia X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia abdominal aortic aneurysm acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia acute myeloid leukemia adrenal carcinoma adrenal cortex cancer adrenocortical carcinoma adult acute lymphocytic leukemia adult lymphoma arthritis arthropathy arthus reaction autoimmune disease autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome bacterial sepsis bone disease breast cancer breast carcinoma bronchus cancer bronchus carcinoma bullous pemphigoid cancer capillary leak syndrome cartilage disease central nervous system lymphoma childhood B-cell acute lymphoblastic leukemia childhood acute lymphocytic leukemia childhood leukemia childhood lymphoma chronic lymphocytic leukemia collagen disease connective tissue disease diffuse large B-cell lymphoma disease of mental health embryoma enthesopathy essential thrombocythemia fibromyalgia giant cell glioblastoma glioblastoma hairy cell leukemia hematologic cancer hemolytic-uremic syndrome hepatic veno-occlusive disease hepatocellular carcinoma high grade glioma hypersensitivity reaction type III disease immune system disease interstitial lung disease leukemia limited scleroderma liver cancer lung benign neoplasm lung cancer lung carcinoma lymphoblastic lymphoma lymphoid leukemia lymphoma lymphoplasmacytic lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 macroglobulinemia melanoma multiple myeloma myelodysplastic syndrome myeloid leukemia non-Hodgkin lymphoma obsolete lymphoplasmacytic lymphoma obsolete ymphosarcoma primary cutaneous T-cell non-Hodgkin lymphoma psychotic disorder refractory hairy cell leukemia reticulosarcoma rheumatoid arthritis scleroderma skin melanoma systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic lupus erythematosus systemic scleroderma vasculitis
145173	beta 3-glucosyltransferase	B3GLCT Aliases: B3GTL B3Glc-T beta-1,3-glucosyltransferase	Homo sapiens (human)	Axenfeld-Rieger syndrome IGSF1 deficiency syndrome Klippel-Feil syndrome Kuhnt-Junius degeneration Meckel syndrome Peters anomaly Peters plus syndrome Tn polyagglutination syndrome age related macular degeneration anemia 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 autism spectrum disorder autistic disorder autosomal dominant polycystic kidney disease blindness cataract cerebral degeneration cleft lip cleft palate coloboma communicating hydrocephalus congenital hypothyroidism congenital nongoitrous hypothyroidism 1 congenital nongoitrous hypothyroidism 2 congenital nongoitrous hypothyroidism 3 congenital nongoitrous hypothyroidism 4 congenital nongoitrous hypothyroidism 5 congenital nongoitrous hypothyroidism 6 congenital nystagmus congenital ptosis cornea plana craniosynostosis cryptorchidism degeneration of macula and posterior pole depressive disorder dissociated nystagmus epilepsy eye disease glaucoma heart septal defect hydrocephalus hydronephrosis hypoplastic left heart syndrome hypospadias hypothyroidism imperforate anus inguinal hernia intellectual disability isolated cleft palate learning disability macrocytic anemia macular degeneration major depressive disorder melancholic depression microcephaly myopia myxedema obsolete melancholia obstructive hydrocephalus omphalocele optic atrophy patent ductus arteriosus patent foramen ovale pathologic nystagmus placental insufficiency polyhydramnios popliteal pterygium syndrome ptosis pulmonary valve stenosis recurrent corneal erosion renal hypoplasia scoliosis senile degeneration of brain sensorineural hearing loss spina bifida occulta spondylolisthesis spontaneous ocular nystagmus syndactyly trichohepatoenteric syndrome 1 trichohepatoenteric syndrome umbilical hernia ventricular septal defect visual epilepsy
729920	CDP-L-ribitol pyrophosphorylase A	CRPPA Aliases: 4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis) D-ribitol-5-phosphate cytidylyltransferase IspD Nip hCG_1745121 notch1-induced protein	Homo sapiens (human)	Axenfeld-Rieger syndrome Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome agnosia anemia autosomal dominant Emery-Dreifuss muscular dystrophy 2 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 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 bilateral optic nerve hypoplasia cataract chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital muscular dystrophy due to integrin alpha-7 deficiency congenital muscular dystrophy-dystroglycanopathy A7 congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy-dystroglycanopathy type A8 congenital muscular dystrophy cornea plana cortical dysplasia-focal epilepsy syndrome cryptorchidism developmental coordination disorder distal myopathy epilepsy facioscapulohumeral muscular dystrophy familial periodic paralysis fibromyalgia fundus dystrophy glaucoma hydranencephaly hydrocephalus intellectual disability isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lissencephaly macrocytic anemia microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myositis nonpapillary renal cell carcinoma 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 obstructive hydrocephalus oculopharyngeal muscular dystrophy optic atrophy papillary renal cell carcinoma persistent hyperplastic primary vitreous pneumonia pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 recurrent corneal erosion renal carcinoma renal cell carcinoma retinal detachment rippling muscle disease 2 sarcomatoid renal cell carcinoma scoliosis senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly syndromic X-linked intellectual disability Najm type visual epilepsy
2218	fukutin	FKTN Aliases: LGMD2M	Homo sapiens (human)	Axenfeld-Rieger syndrome Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome X-linked dilated cardiomyopathy agnosia anaplastic astrocytoma 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 autosomal dominant Emery-Dreifuss muscular dystrophy 2 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 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 bilateral optic nerve hypoplasia blindness breast cancer buphthalmos campomelic dysplasia cancer cardiomyopathy cataract centronuclear myopathy childhood cerebral astrocytoma cleft lip cleft palate coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy 1B congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy due to integrin alpha-7 deficiency congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy congenital myopathy 1A congenital myopathy 4A congenital structural myopathy congestive heart failure cornea plana cortical dysplasia-focal epilepsy syndrome craniometaphyseal dysplasia craniosynostosis cryptorchidism developmental coordination disorder dextro-looped transposition of the great arteries 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 distal myopathy embryoma endomyocardial fibrosis epilepsy facioscapulohumeral muscular dystrophy familial hypertrophic cardiomyopathy familial periodic paralysis fibrillary astrocytoma fibromyalgia fundus dystrophy gallbladder cancer gallbladder carcinoma gemistocytic astrocytoma glaucoma high grade glioma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hydrophthalmos hyperopia hypertrophic cardiomyopathy hypertropia imperforate anus intellectual disability isolated cleft palate isolated elevated serum creatine phosphokinase levels juvenile pilocytic astrocytoma learning disability limb-girdle muscular dystrophy lipoatrophic diabetes mellitus lipodystrophy lissencephaly malignant astrocytoma mechanical strabismus megaconial type congenital muscular dystrophy megalocornea meningocele microcephaly microphthalmia multiple types of congenital heart defects 6 muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B4 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy myocarditis myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia myositis nemaline myopathy nonepidermolytic palmoplantar keratoderma 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 dextro-looped transposition of the great arteries 1 obstructive hydrocephalus oculopharyngeal muscular dystrophy ophthalmoplegia optic atrophy palmoplantar keratosis patent foramen ovale peripheral retinal degeneration pilocytic astrocytoma placental insufficiency pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 protoplasmic astrocytoma pulmonary valve stenosis recurrent corneal erosion renal agenesis retinal detachment rigid spine muscular dystrophy 1 rippling muscle disease 2 scoliosis senile degeneration of brain sensorineural hearing loss septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly speech disorder stomach cancer stomach carcinoma strabismus subependymal giant cell astrocytoma syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type visual epilepsy
10585	protein O-mannosyltransferase 1	POMT1 Aliases: LGMD2K dolichyl-phosphate-mannose-protein mannosyltransferase	Homo sapiens (human)	Axenfeld-Rieger syndrome Bell's palsy Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Marfan syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome agnosia autosomal dominant Emery-Dreifuss muscular dystrophy 2 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 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 bilateral optic nerve hypoplasia blindness brain cancer brain disease buphthalmos campomelic dysplasia cardiomyopathy cataract centronuclear myopathy cleft lip cleft palate clubfoot coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 cone-rod dystrophy congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy 1B congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy due to integrin alpha-7 deficiency congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy congenital myopathy 1A congenital myopathy 4A congenital structural myopathy cornea plana cortical dysplasia-focal epilepsy syndrome craniometaphyseal dysplasia cryptorchidism developmental coordination disorder distal myopathy endomyocardial fibrosis epilepsy facial nerve disease facial paralysis facioscapulohumeral muscular dystrophy familial periodic paralysis fibromyalgia fundus albipunctatus fundus dystrophy glaucoma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hydrophthalmos hypertrophic cardiomyopathy hypertropia imperforate anus intellectual disability isolated cleft palate isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lissencephaly locked-in syndrome mechanical strabismus megaconial type congenital muscular dystrophy megalocornea meningocele microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy-dystroglycanopathy muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia myositis nemaline myopathy neuromuscular disease 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 obstructive hydrocephalus oculopharyngeal muscular dystrophy oligohydramnios ophthalmoplegia optic atrophy peripheral retinal degeneration placental insufficiency pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 quadriplegia recurrent corneal erosion renal agenesis retinal detachment retinitis pigmentosa rigid spine muscular dystrophy 1 rippling muscle disease 2 scoliosis senile degeneration of brain sensorineural hearing loss septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly situs inversus speech disorder strabismus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type tuberous sclerosis visual epilepsy
29954	protein O-mannosyltransferase 2	POMT2 Aliases: Dolichyl-phosphate-mannose--protein mannosyltransferase LGMD2N	Homo sapiens (human)	Axenfeld-Rieger syndrome Bell's palsy Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Marfan syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome X-linked dilated cardiomyopathy agnosia autosomal dominant Emery-Dreifuss muscular dystrophy 2 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 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 bilateral optic nerve hypoplasia blindness buphthalmos campomelic dysplasia cancer cataract cleft lip cleft palate coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 cone-rod dystrophy congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy-dystroglycanopathy type A2 congenital muscular dystrophy cornea plana cortical dysplasia-focal epilepsy syndrome craniometaphyseal dysplasia cryptorchidism cystic kidney disease developmental coordination disorder 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 distal myopathy embryoma epilepsy facial nerve disease facial paralysis facioscapulohumeral muscular dystrophy familial periodic paralysis fundus albipunctatus glaucoma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hydrophthalmos hyperopia hypertropia imperforate anus intellectual disability isolated cleft palate isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lissencephaly mechanical strabismus megalocornea meningocele microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B2 muscular dystrophy-dystroglycanopathy muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia 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 obstructive hydrocephalus oculopharyngeal muscular dystrophy ophthalmoplegia optic atrophy peripheral retinal degeneration pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 recurrent corneal erosion renal agenesis retinal detachment retinitis pigmentosa rippling muscle disease 2 scoliosis senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly situs inversus speech disorder strabismus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type tuberous sclerosis visual epilepsy
9215	LARGE xylosyl- and glucuronyltransferase 1	LARGE1 Aliases: KIAA0609 like-acetylglucosaminyltransferase	Homo sapiens (human)	Axenfeld-Rieger syndrome Becker muscular dystrophy Bell's palsy Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Laron syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome achondroplasia acoustic neuroma agnosia amphetamine abuse angiomatous meningioma atypical chronic myeloid leukemia, BCR-ABL1 negative autosomal dominant Emery-Dreifuss muscular dystrophy 2 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 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 benign meningioma bilateral optic nerve hypoplasia blindness buphthalmos cancer cataract centronuclear myopathy cerebral convexity meningioma chronic monocytic leukemia clear cell meningioma cleft lip cleft palate coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 cone-rod dystrophy congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy 1B congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy due to integrin alpha-7 deficiency congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy-dystroglycanopathy type A6 congenital muscular dystrophy congenital myopathy 1A congenital myopathy 4A congenital structural myopathy cornea plana cortical dysplasia-focal epilepsy syndrome cryptorchidism depressive disorder developmental coordination disorder diabetes mellitus dissociated nystagmus distal myopathy endomyocardial fibrosis epilepsy facial nerve disease facial paralysis facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy familial periodic paralysis fibrous meningioma fundus albipunctatus fundus dystrophy glaucoma hepatocellular carcinoma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hydrophthalmos hypertropia idiopathic scoliosis imperforate anus intellectual disability intraorbital meningioma intraventricular meningioma isolated cleft palate isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lissencephaly liver cancer lymphoid leukemia lymphoplasmacyte-rich meningioma major depressive disorder mechanical strabismus megaconial type congenital muscular dystrophy megalocornea melancholic depression meningioma meningocele meningothelial meningioma microcephaly microcystic meningioma microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy myeloid leukemia myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia nemaline myopathy 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 melancholia obstructive hydrocephalus oculopharyngeal muscular dystrophy olfactory groove meningioma ophthalmoplegia optic atrophy parasagittal meningioma pathologic nystagmus peripheral retinal degeneration pituitary adenoma pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 psammomatous meningioma recurrent corneal erosion renal agenesis retinal detachment retinitis pigmentosa rhabdomyosarcoma rigid spine muscular dystrophy 1 rippling muscle disease 2 scoliosis secretory meningioma senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly speech disorder spinal meningioma spontaneous ocular nystagmus strabismus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type transitional meningioma type 2 diabetes mellitus visual epilepsy
79147	fukutin related protein	FKRP Aliases: FKTR LGMD2I MDC1C	Homo sapiens (human)	Axenfeld-Rieger syndrome Becker muscular dystrophy Bell's palsy Bethlem myopathy Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Richter's syndrome Walker-Warburg syndrome X-linked dilated cardiomyopathy agnosia amnestic disorder autosomal dominant Emery-Dreifuss muscular dystrophy 2 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 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 bilateral optic nerve hypoplasia blindness buphthalmos campomelic dysplasia cardiomyopathy cataract catecholaminergic polymorphic ventricular tachycardia 1 catecholaminergic polymorphic ventricular tachycardia 2 catecholaminergic polymorphic ventricular tachycardia 3 catecholaminergic polymorphic ventricular tachycardia 4 catecholaminergic polymorphic ventricular tachycardia 5 catecholaminergic polymorphic ventricular tachycardia central nervous system origin vertigo centronuclear myopathy chronic lymphocytic leukemia cleft lip cleft palate coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 cone-rod dystrophy congenital heart disease congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy 1B congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy due to integrin alpha-7 deficiency congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy-dystroglycanopathy type A5 congenital muscular dystrophy congenital myopathy 1A congenital myopathy 4A congenital structural myopathy congestive heart failure cornea plana cortical dysplasia-focal epilepsy syndrome craniometaphyseal dysplasia cryptorchidism developmental coordination disorder diabetic ketoacidosis 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 distal myopathy endomyocardial fibrosis epilepsy facial nerve disease facial paralysis facioscapulohumeral muscular dystrophy familial periodic paralysis fibromyalgia fundus albipunctatus fundus dystrophy glaucoma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hydrophthalmos hypertrophic cardiomyopathy hypertropia imperforate anus intellectual disability isolated cleft palate isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lissencephaly mechanical strabismus megaconial type congenital muscular dystrophy megalocornea meningocele microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia myositis nemaline myopathy neuromuscular disease 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 type 1 diabetes mellitus 9 obstructive hydrocephalus oculopharyngeal muscular dystrophy ophthalmoplegia optic atrophy peripheral retinal degeneration pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 pseudosarcomatous fibromatosis recurrent corneal erosion renal agenesis retinal detachment retinitis pigmentosa retrograde amnesia rigid spine muscular dystrophy 1 rippling muscle disease 2 scoliosis senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly speech disorder strabismus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type 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 visual epilepsy
1545	cytochrome P450 family 1 subfamily B member 1	CYP1B1 Aliases: CP1B	Homo sapiens (human)	Axenfeld-Rieger syndrome B-cell lymphoma Bloch-Sulzberger syndrome Foster-Kennedy syndrome Langerhans-cell histiocytosis Lynch syndrome Marfan syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Peters anomaly Peutz-Jeghers syndrome Sveinsson chorioretinal atrophy acoustic neuroma acute lymphoblastic leukemia acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma adult medulloblastoma adult respiratory distress syndrome agranulocytosis allergic asthma amnestic disorder anaplastic astrocytoma anemia angiomatous meningioma angle-closure glaucoma aniridia ankylosing spondylitis anterior segment dysgenesis 6 anterior segment dysgenesis arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis 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 autism spectrum disorder autistic disorder basal cell carcinoma benign meningioma bladder carcinoma blindness brain cancer branch retinal artery occlusion breast adenocarcinoma breast cancer breast carcinoma breast fibrocystic disease bronchus cancer bronchus carcinoma buphthalmos cancer capillary hemangioma carcinoma cardiovascular system disease cavernous hemangioma central nervous system cancer central nervous system lymphoma central retinal artery occlusion cerebral convexity meningioma cervical adenocarcinoma cervical cancer cervix carcinoma childhood acute lymphocytic leukemia childhood cerebral astrocytoma childhood kidney cell carcinoma childhood leukemia childhood medulloblastoma choriocarcinoma chromophobe renal cell carcinoma chronic closed-angle glaucoma chronic obstructive pulmonary disease clear cell meningioma clear cell renal cell carcinoma collecting duct carcinoma coloboma colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma common wart congenital nystagmus congestive heart failure contact dermatitis cornea plana corneal neovascularization coronary artery disease coronary thrombosis cribriform carcinoma depressive disorder diabetes mellitus disease of metabolism dissociated nystagmus dysplastic nevus syndrome ectropion embryoma endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma essential hypertension essential thrombocythemia eye disease familial adenomatous polyposis familial hyperlipidemia familial multiple nevi flammei female breast carcinoma fibrillary astrocytoma fibrous meningioma follicular adenoma gallbladder cancer gallbladder carcinoma gallbladder disease gastrointestinal stromal tumor gemistocytic astrocytoma gestational diabetes giant cell glioblastoma glaucoma glioblastoma gliosarcoma glucose intolerance granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma heart disease hepatitis hepatocellular carcinoma high grade glioma hydrophthalmos hyperglycemia hypertension hypertrophic cardiomyopathy hypertropia hypomelanosis of Ito hypospadias inflammatory breast carcinoma intraorbital meningioma intraventricular meningioma intrinsic asthma juvenile glaucoma juvenile pilocytic astrocytoma kidney cancer large intestine cancer laryngeal benign neoplasm laryngeal carcinoma larynx cancer leiomyoma leukemia leukopenia liver cancer liver disease low tension glaucoma lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung squamous cell carcinoma lymphoblastic lymphoma lymphoma lymphoplasmacyte-rich meningioma macrocytic anemia male breast cancer male infertility malignant astrocytoma mechanical strabismus medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma meningioma meningothelial meningioma microcystic adenoma microcystic meningioma microglandular adenosis microphthalmia mixed glioma multiple myeloma multiple sclerosis myelodysplastic syndrome myocardial infarction myofibroma neutropenia newborn respiratory distress syndrome nodular prostate non-Hodgkin lymphoma nonpapillary renal cell carcinoma obesity obsolete anterior segment mesenchymal dysgenesis obsolete ymphosarcoma occupational dermatitis ocular hypertension oculodentodigital dysplasia olfactory groove meningioma open-angle glaucoma ophthalmoplegia optic atrophy 1 optic atrophy optic nerve disease oral mucosa leukoplakia osteoarthritis osteoporosis ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma pancreatitis papillary adenoma papillary renal cell carcinoma parasagittal meningioma patent ductus arteriosus patent foramen ovale pathologic nystagmus periodontitis phimosis pilocytic astrocytoma pituitary adenoma placenta cancer polycystic ovary syndrome prediabetes syndrome primary angle-closure glaucoma primary cutaneous amyloidosis primary open angle glaucoma primary pulmonary hypertension prostate cancer prostate carcinoma prostatic adenoma protoplasmic astrocytoma psammomatous meningioma recurrent corneal erosion renal carcinoma renal cell carcinoma reticulosarcoma retinal artery occlusion retinal detachment retinal disease retinal vein occlusion retinitis retrograde amnesia sarcomatoid carcinoma sarcomatoid renal cell carcinoma sebaceous carcinoma secretory meningioma severe congenital neutropenia silent myocardial infarction situs inversus skin melanoma spinal meningioma spontaneous ocular nystagmus squamous cell carcinoma squamous cell neoplasm steatotic liver disease strabismus subependymal giant cell astrocytoma sweat gland cancer tongue squamous cell carcinoma transitional cell carcinoma transitional meningioma tuberous sclerosis tubular adenocarcinoma type 2 diabetes mellitus urinary bladder cancer uterine corpus cancer uterine fibroid visual pathway disease von Hippel-Lindau disease white sponge nevus xeroderma pigmentosum group A xeroderma pigmentosum group B xeroderma pigmentosum group C xeroderma pigmentosum group D xeroderma pigmentosum group E xeroderma pigmentosum group F xeroderma pigmentosum group G xeroderma pigmentosum variant type xeroderma pigmentosum
8604	solute carrier family 25 member 12	SLC25A12	Homo sapiens (human)	Asperger syndrome autism spectrum disorder autistic disorder citrullinemia common bile duct disease developmental and epileptic encephalopathy 39 intrahepatic cholestasis
43616	aralar1	aralar1	Drosophila melanogaster (fruit fly)	Asperger syndrome adult-onset type II citrullinemia autism spectrum disorder autistic disorder citrullinemia common bile duct disease developmental and epileptic encephalopathy 39 intrahepatic cholestasis neonatal-onset type II citrullinemia
414	arylsulfatase D	ARSD Aliases: ASD	Homo sapiens (human)	Asperger syndrome Bannayan-Riley-Ruvalcaba syndrome Beckwith-Wiedemann syndrome CLOVES syndrome Cockayne syndrome Cornelia de Lange syndrome 1 Cornelia de Lange syndrome Cowden syndrome Down syndrome Dubowitz syndrome Lown-Ganong-Levine syndrome Marfan syndrome Mowat-Wilson 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 Perlman syndrome Prader-Willi syndrome Rett syndrome Richter's syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome Sotos syndrome Williams-Beuren syndrome Wolff-Parkinson-White syndrome X-linked Aarskog syndrome acute kidney tubular necrosis acute myeloid leukemia acute promyelocytic leukemia adult respiratory distress syndrome alexia amnestic disorder aniridia anxiety disorder aortic valve disease 1 aortic valve disease 2 aortic valve stenosis argininosuccinic aciduria arteriosclerotic cardiovascular disease atherosclerosis 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 atrioventricular block atrioventricular septal defect attention deficit hyperactivity disorder autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome bicuspid aortic valve disease breast cancer breast carcinoma buphthalmos cardiomyopathy cardiovascular system disease cerebral palsy chondrodysplasia-pseudohermaphroditism syndrome chronic lymphocytic leukemia citrullinemia communication disorder conduct disorder congenital heart disease congestive heart failure coronary artery disease depressive disorder developmental coordination disorder disease of mental health dyslexia dysthymic disorder eating disorder endocarditis endometriosis of uterus endometriosis endomyocardial fibrosis epilepsy essential hypertension excessive tearing familial hypertrophic cardiomyopathy fragile X syndrome generalized anxiety disorder glaucoma heart disease hemiplegia hydrophthalmos hyperargininemia hypertension hypertrophic cardiomyopathy hypospadias immune system disease infective endocarditis intellectual disability juvenile glaucoma lacrimal apparatus disease language disorder learning disability major depressive disorder melancholic depression microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microphthalmia neurotic disorder newborn respiratory distress syndrome nicotine dependence obesity obsolete melancholia patent ductus arteriosus patent foramen ovale phobic disorder polycystic ovary syndrome post-traumatic stress disorder primary open angle glaucoma psychotic disorder pulmonary valve stenosis retrograde amnesia schizophrenia sclerocornea situs inversus spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy subacute bacterial endocarditis substance abuse substance-related disorder supravalvular aortic stenosis syndromic X-linked intellectual disability 94 tuberous sclerosis ventricular septal defect visual epilepsy
5631	phosphoribosyl pyrophosphate synthetase 1	PRPS1 Aliases: CMTX5 DFNX1 PPRibP PRS I PRS-I ribose-phosphate diphosphokinase 1	Homo sapiens (human)	Arts syndrome 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 2 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 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 type X Charcot-Marie-Tooth disease Foster-Kennedy syndrome Laron syndrome Werner syndrome X-linked deafness 1 X-linked nonsyndromic deafness achondroplasia acute lymphoblastic leukemia adult acute lymphocytic leukemia agenesis of the corpus callosum with peripheral neuropathy agnosia alternating exotropia anaplastic astrocytoma blindness breast cancer breast carcinoma cancer carcinoma central sleep apnea childhood acute lymphocytic leukemia childhood cerebral astrocytoma coloboma colorectal cancer colorectal carcinoma communication disorder congenital nystagmus critical illness polyneuropathy developmental coordination disorder diabetes insipidus disease of metabolism dissociated nystagmus embryoma epilepsy exotropia fibrillary astrocytoma fundus dystrophy gemistocytic astrocytoma giant cell glioblastoma glioblastoma gout hepatocellular carcinoma hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 2 high grade glioma hyperuricemia inflammatory and toxic neuropathy intellectual disability juvenile pilocytic astrocytoma kidney failure kwashiorkor language disorder large intestine cancer learning disability liver cancer locked-in syndrome malignant astrocytoma marasmus meningoencephalitis monocular exotropia motor peripheral neuropathy neuroblastoma neurodegeneration with brain iron accumulation neurohypophyseal diabetes insipidus neuropathy nutrition disease nutritional optic neuropathy obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum optic atrophy optic nerve disease pancreas disease paraplegia pathologic nystagmus peripheral nervous system disease phosphoribosylpyrophosphate synthetase superactivity pilocytic astrocytoma placental insufficiency polyneuropathy primary immunodeficiency disease progeria protein-energy malnutrition protoplasmic astrocytoma quadriplegia retinitis pigmentosa sarcomatoid carcinoma scoliosis sensorineural hearing loss sensory peripheral neuropathy spontaneous ocular nystagmus subependymal giant cell astrocytoma uric acid nephrolithiasis visual epilepsy visual pathway disease
523	ATPase H+ transporting V1 subunit A	ATP6V1A Aliases: V-ATPase subunit A V-type proton ATPase (V-ATPase) catalytic subunit A VA68 Vma1	Homo sapiens (human)	American histoplasmosis Dandy-Walker syndrome Joubert syndrome Laron syndrome Miller-Dieker lissencephaly syndrome Unverricht-Lundborg syndrome achondroplasia agnosia angioma serpiginosum anodontia aspergillosis 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 attention deficit hyperactivity disorder autistic disorder autosomal recessive cutis laxa type IA autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID black piedra blepharophimosis blepharospasm brain disease capillary hemangioma cardiomyopathy cataract cavernous hemangioma cerebral degeneration clubfoot coccidioidomycosis coloboma colorectal cancer colorectal carcinoma complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital nystagmus congenital ptosis congestive heart failure cortical dysplasia-focal epilepsy syndrome cryptorchidism cutis laxa dementia dental caries dentin caries developmental and epileptic encephalopathy 93 developmental coordination disorder dissociated nystagmus dystonia early myoclonic encephalopathy endomyocardial fibrosis entropion epilepsy esophagitis familial hypertrophic cardiomyopathy focal hand dystonia gastroesophageal reflux disease histoplasmosis hydranencephaly hyperopia hypertrophic cardiomyopathy hypertropia inguinal hernia intellectual disability large intestine cancer learning disability lingual-facial-buccal dyskinesia lipoatrophic diabetes mellitus lipodystrophy lissencephaly mechanical strabismus microcephaly obsolete infantile epileptic encephalopathy ophthalmoplegia optic atrophy patent foramen ovale pathologic nystagmus peptic esophagitis placental insufficiency pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 ptosis retinal degeneration schizophrenia septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly spontaneous ocular nystagmus sporotrichosis status epilepticus stomach cancer stomach carcinoma strabismus superficial mycosis syndromic X-linked intellectual disability Najm type tooth agenesis visual epilepsy white piedra
3956	galectin 1	LGALS1 Aliases: GBP	Homo sapiens (human)	American histoplasmosis B-cell lymphoma Beckwith-Wiedemann syndrome Burkitt lymphoma CLOVES syndrome Camurati-Engelmann disease Duchenne muscular dystrophy Ebola hemorrhagic fever Glanzmann's thrombasthenia Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Kaposi's sarcoma Langerhans-cell histiocytosis MHC class II deficiency Norum disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Patau syndrome Perlman syndrome Richter's syndrome Sotos syndrome St. Louis encephalitis T-cell acute lymphoblastic leukemia Tangier disease Weissenbacher-Zweymuller syndrome X-linked ichthyosis abetalipoproteinemia acoustic neuroma acquired immunodeficiency syndrome acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia acute myeloid leukemia acute myocardial infarction acute promyelocytic leukemia adamantinous craniopharyngioma adenoma adenosine deaminase deficiency adult T-cell leukemia/lymphoma adult lymphoma adult oligodendroglioma age related macular degeneration agnosia allergic asthma amyotrophic lateral sclerosis androgen insensitivity syndrome angiomatous meningioma anthrax disease aphthous stomatitis arthritis arthropathy aspergillosis asthma atopic dermatitis autoimmune disease autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome bacterial sepsis basal cell carcinoma benign meningioma bile duct adenocarcinoma bile duct carcinoma black piedra bladder carcinoma bladder urothelial carcinoma bone marrow cancer bone osteosarcoma brain ischemia breast adenocarcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiovascular system disease cataract 4 multiple types celiac disease central nervous system cancer central nervous system lymphoma cerebral convexity meningioma cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervical squamous cell carcinoma cervix carcinoma childhood leukemia childhood lymphoma childhood oligodendroglioma childhood osteosarcoma cholangiocarcinoma choreaacanthocytosis choriocarcinoma chromophobe renal cell carcinoma chronic fatigue syndrome chronic lymphocytic leukemia classic galactosemia clear cell meningioma clear cell renal cell carcinoma coccidioidomycosis colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma complement deficiency cone-rod dystrophy 2 cone-rod dystrophy congestive heart failure conjunctivitis corneal disease coronary thrombosis craniopharyngioma cystinuria degeneration of macula and posterior pole depressive disorder dermatitis diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic macular edema diabetic retinopathy differentiated thyroid gland carcinoma diffuse large B-cell lymphoma distal arthrogryposis dysplastic nevus syndrome dysthymic disorder embryoma encephalitis encephalomyelitis endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis epithelioid malignant peripheral nerve sheath tumor epithelioid sarcoma essential hypertension extrahepatic cholestasis exudative vitreoretinopathy 1 exudative vitreoretinopathy familial nephrotic syndrome fibrous meningioma follicular adenoma galactokinase deficiency galactosemia gastric ulcer gastritis gastroenteritis gastrointestinal system cancer gestational diabetes gestational trophoblastic neoplasm giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis glucosephosphate dehydrogenase deficiency glycogen storage disease Ia glycogen storage disease goiter gray platelet syndrome head and neck cancer head and neck squamous cell carcinoma heart disease hepatitis A hepatitis C hepatitis hepatocellular carcinoma herpes simplex high grade glioma histoplasmosis human immunodeficiency virus infectious disease hyperglycemia hypertension hypoglycemia hypolipoproteinemia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis immune system disease inflammatory and toxic neuropathy inflammatory bowel disease 1 inflammatory bowel disease interstitial lung disease intrahepatic cholangiocarcinoma intraorbital meningioma intraventricular meningioma intrinsic asthma invasive ductal carcinoma keratoconus kidney disease large intestine cancer laryngeal benign neoplasm laryngeal carcinoma laryngeal squamous cell carcinoma larynx cancer leukemia lipoid nephrosis liver cancer liver carcinoma liver cirrhosis lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung squamous cell carcinoma lymphoblastic lymphoma lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 macular degeneration major depressive disorder malignant astrocytoma malignant peripheral nerve sheath tumor melancholic depression melanoma meningioma meningothelial meningioma microcystic adenoma microcystic meningioma microphthalmia mixed glioma mixed oligodendroglioma-astrocytoma multiple myeloma multiple sclerosis muscular dystrophy myasthenia gravis mycosis fungoides myelitis myelofibrosis myeloproliferative neoplasm myocardial infarction nasopharynx carcinoma neovascular glaucoma neovascular inflammatory vitreoretinopathy nephritis nephronophthisis 9 nephronophthisis nephrotic syndrome neurilemmoma neuroblastoma neurofibrosarcoma 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 neurotic disorder non-Hodgkin lymphoma nonpapillary renal cell carcinoma obesity obsolete Matthew-Wood syndrome obsolete T-cell lymphoblastic leukemia/lymphoma obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma olfactory groove meningioma oligodendroglioma oral mucosa leukoplakia osteoarthritis osteosarcoma otitis media ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma papillary adenocarcinoma papillary adenoma papillary carcinoma papillary craniopharyngioma papillary renal cell carcinoma parapsoriasis parasagittal meningioma patent ductus arteriosus periapical granuloma peripheral T-cell lymphoma pituitary adenoma placenta cancer plasmacytoma platelet-type bleeding disorder 17 platelet-type bleeding disorder 18 polycythemia vera polycythemia postinflammatory pulmonary fibrosis pre-eclampsia premature menopause preretinal fibrosis primary cutaneous T-cell non-Hodgkin lymphoma primary immunodeficiency disease primary ovarian insufficiency primary pulmonary hypertension prion disease progressive muscular atrophy proliferative diabetic retinopathy prostate cancer prostate carcinoma psammomatous meningioma psoriasis pulmonary fibrosis pustulosis of palm and sole qualitative platelet defect renal carcinoma renal cell carcinoma reticulosarcoma retinal disease retinal vasculitis retinitis retinopathy of prematurity rheumatoid arthritis sarcoidosis sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia sebaceous carcinoma secondary Parkinson disease secretory meningioma sensorineural hearing loss severe combined immunodeficiency silent myocardial infarction skin melanoma speech-language disorder-1 spinal meningioma spindle cell sarcoma sporotrichosis squamous cell carcinoma stomach cancer stomach carcinoma substance abuse substance-related disorder superficial mycosis sweat gland cancer systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic lupus erythematosus thymus cancer thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland disease thyroid gland papillary carcinoma tongue squamous cell carcinoma transitional cell carcinoma transitional meningioma trophoblastic neoplasm 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 ulcerative colitis urinary bladder cancer uterine corpus cancer uveoparotid fever viral infectious disease visceral leishmaniasis white piedra white sponge nevus
380298	enolase 1 S homeolog	eno1.S	Xenopus laevis (African clawed frog)	Alzheimer's disease
14447	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	Gapdhs	Mus musculus (house mouse)	Alzheimer's disease
66020	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	Gapdhs	Rattus norvegicus (Norway rat)	Alzheimer's disease
406367	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	gapdhs	Danio rerio (zebrafish)	Alzheimer's disease
2641	glucagon	GCG	Homo sapiens (human)	Alzheimer's disease prediabetes syndrome
14526	glucagon	Gcg	Mus musculus (house mouse)	Alzheimer's disease prediabetes syndrome

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