GlyCosmos Portal

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UniProt ID	Protein Name	Gene Symbol	No. of Glycosylation Sites	No. of GlyTouCan IDs	Disease Ontology ▲
Q06210	Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1	GFPT1 GFAT GFPT	1	2	Bell's palsy Laron syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Zollinger-Ellison syndrome achondroplasia agnosia brain cancer breast cancer breast carcinoma cancer centronuclear myopathy clubfoot congenital myasthenic syndrome 12 congenital myasthenic syndrome 4C congenital myasthenic syndrome congenital ptosis congenital structural myopathy developmental coordination disorder diabetes mellitus diabetic ketoacidosis embryoma facial nerve disease facial paralysis familial hyperlipidemia familial periodic paralysis giant cell glioblastoma glioblastoma glomerulonephritis hepatitis B hepatocellular carcinoma high grade glioma hyperglycemia hyperinsulinism hypertropia isolated elevated serum creatine phosphokinase levels kidney disease liver cancer mechanical strabismus myopathy nasopharynx carcinoma nephritis nephrosis neuromuscular disease neuromuscular junction disease obesity ophthalmoplegia pancreatic cancer pancreatic carcinoma ptosis pyoureter scoliosis stomach cancer stomach carcinoma strabismus tubular aggregate myopathy 1 type 2 diabetes mellitus
Q9NP73	UDP-N-acetylglucosamine transferase subunit ALG13	ALG13 CXorf45 GLT28D1	0	1	Bell's palsy Meckel's diverticulum West syndrome agnosia attention deficit hyperactivity disorder autistic disorder blindness cerebral degeneration choreatic disease clubfoot congenital disorder of glycosylation type I congenital disorder of glycosylation congenital nystagmus craniosynostosis developmental and epileptic encephalopathy 36 dissociated nystagmus epilepsy facial nerve disease facial paralysis focal segmental glomerulosclerosis hypophosphatemia intellectual disability learning disability lung cancer lung non-small cell carcinoma microcephaly non-syndromic X-linked intellectual disability obesity obsolete infantile epileptic encephalopathy optic atrophy pathologic nystagmus placental insufficiency pyloric stenosis spontaneous ocular nystagmus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability type 10 visual epilepsy
Q8NCE2	Myotubularin-related protein 14	MTMR14 C3orf29	2	0	Bell's palsy agnosia asphyxia neonatorum autosomal dominant centronuclear myopathy autosomal recessive centronuclear myopathy cancer capillary hemangioma cardiomyopathy cavernous hemangioma centronuclear myopathy 1 centronuclear myopathy X-linked centronuclear myopathy 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 myopathy 1A congenital myopathy 4A congenital ptosis congenital structural myopathy cryptorchidism developmental coordination disorder endomyocardial fibrosis facial nerve disease facial paralysis familial periodic paralysis hemangioma hepatocellular carcinoma hypertrophic cardiomyopathy liver cancer liver carcinoma malignant hyperthermia megaconial type congenital muscular dystrophy muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 myopathy nemaline myopathy obesity ophthalmoplegia ovarian carcinoma polyhydramnios ptosis rigid spine muscular dystrophy 1 tubular aggregate myopathy 1
Q96F25	UDP-N-acetylglucosamine transferase subunit ALG14	ALG14	0	1	Bell's palsy agnosia clubfoot congenital myasthenic syndrome 15 congenital myasthenic syndrome congenital ptosis developmental coordination disorder facial nerve disease facial paralysis familial periodic paralysis idiopathic scoliosis intellectual disability isolated elevated serum creatine phosphokinase levels learning disability myopathy ptosis scoliosis syndromic X-linked intellectual disability 94
P35247	Pulmonary surfactant-associated protein D	SFTPD COLEC7 PSPD SFTP4	1	0	Bloch-Sulzberger syndrome Crohn's colitis Crohn's disease Ebola hemorrhagic fever Fabry disease Wolman disease acquired immunodeficiency syndrome acute interstitial pneumonia acute lymphoblastic leukemia acute pancreatitis adenocarcinoma adenoid hypertrophy adenoma adult acute lymphocytic leukemia adult respiratory distress syndrome allergic asthma allergic disease allergic rhinitis anthracosilicosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asbestosis asthma atherosclerosis bacterial pneumonia bacterial sepsis blastomycosis brain stem infarction breast cancer bronchiectasis bronchiolitis obliterans bronchiolitis bronchitis bronchus cancer bronchus carcinoma byssinosis cancer cardiovascular system disease cataract 32 multiple types cerebral artery occlusion cerebral infarction cerebrovascular disease childhood acute lymphocytic leukemia chronic ethmoiditis chronic interstitial cystitis chronic obstructive pulmonary disease chronic sphenoidal sinusitis chylomicron retention disease colitis communicating hydrocephalus cone-rod dystrophy congenital diaphragmatic hernia congestive heart failure corneal ulcer coronary artery disease coronary stenosis craniosynostosis cribriform carcinoma cystic fibrosis diabetes mellitus diabetic ketoacidosis disease of metabolism dry eye syndrome embryoma fundus albipunctatus gastroenteritis glomerulonephritis granular cell carcinoma heart disease herpes simplex virus keratitis human immunodeficiency virus infectious disease hydrocephalus hypereosinophilic syndrome hypomelanosis of Ito idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis inflammatory bowel disease 1 inflammatory bowel disease influenza interstitial cystitis interstitial lung disease interstitial nephritis intrinsic asthma kidney disease leprosy leukopenia lipid storage disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung small cell carcinoma lymphangioleiomyomatosis lymphoblastic lymphoma middle cerebral artery infarction mixed connective tissue disease nephritis nephrosis neurogenic arthropathy newborn respiratory distress syndrome nutmeg liver obesity obstructive hydrocephalus obstructive lung disease osteoarthritis ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatitis paracoccidioidomycosis parapsoriasis periodontitis peripheral artery disease periventricular leukomalacia pneumocystosis pneumonia postinflammatory pulmonary fibrosis prostate adenocarcinoma prostate cancer prostate carcinoma prune belly syndrome psoriasis pulmonary alveolar proteinosis pulmonary emphysema pulmonary fibrosis pustulosis of palm and sole pyelitis pyelonephritis pyoureter renal infectious disease respiratory failure respiratory syncytial virus infectious disease retinitis pigmentosa rheumatoid arthritis scleroderma senile degeneration of brain sickle cell anemia silicosis squamous cell carcinoma sudden infant death syndrome systemic lupus erythematosus systemic primary carnitine deficiency disease systemic scleroderma tongue squamous cell carcinoma tuberculosis tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis urinary tract obstruction vasomotor rhinitis viral infectious disease xerophthalmia
Q15738	Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating	NSDHL H105E3	0	1	Bloch-Sulzberger syndrome Joubert syndrome Miller-Dieker lissencephaly syndrome Potter's syndrome Sjogren-Larsson syndrome X-linked chondrodysplasia punctata 1 X-linked chondrodysplasia punctata 2 acquired hyperkeratosis autosomal dominant chondrodysplasia punctata autosomal recessive congenital ichthyosis bilateral renal aplasia chondrodysplasia punctata cleft lip complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 cortical dysplasia-focal epilepsy syndrome cutaneous fibrous histiocytoma epidermal nevus epilepsy granuloma annulare head and neck squamous cell carcinoma heart septal defect hidradenoma hydranencephaly hydronephrosis hypertropia hypomelanosis of Ito intellectual disability learning disability lissencephaly mechanical strabismus microcephaly obsolete congenital ichthyosiform erythroderma omphalocele ophthalmoplegia pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 rhizomelic chondrodysplasia punctata type 1 rhizomelic chondrodysplasia punctata type 2 rhizomelic chondrodysplasia punctata type 3 scoliosis septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly skin papilloma skin tag strabismus syndromic X-linked intellectual disability Najm type syringoma umbilical hernia ventricular septal defect verruciform xanthoma of skin visual epilepsy
Q9NWU1	3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial	OXSM	2	1	Brucella melitensis brucellosis breast cancer tuberculosis
O00469	Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2	PLOD2	9	45	Bruck syndrome
P54289	Voltage-dependent calcium channel subunit alpha-2/delta-1	CACNA2D1 CACNL2A CCHL2A MHS3	17	53	Brugada syndrome 1 Brugada syndrome 2 Brugada syndrome 3 Brugada syndrome 4 Brugada syndrome 5 Brugada syndrome 6 Brugada syndrome 7 Brugada syndrome 8 Brugada syndrome 9 Brugada syndrome West syndrome Williams-Beuren syndrome acute myeloid leukemia amelogenesis imperfecta type 1G atrial fibrillation atrioventricular block azoospermia cancer cardiac arrest colon cancer colonic benign neoplasm colorectal cancer depressive disorder embryoma epilepsy essential hypertension glaucoma hepatocellular carcinoma hypertension idiopathic scoliosis intellectual disability large intestine cancer learning disability liver cancer major depressive disorder malignant hyperthermia melancholic depression neurotic disorder obsolete infantile epileptic encephalopathy obsolete melancholia primary open angle glaucoma short QT syndrome sick sinus syndrome stomach cancer stomach carcinoma supravalvular aortic stenosis uveal melanoma
Q8N335	Glycerol-3-phosphate dehydrogenase 1-like protein	GPD1L KIAA0089	0	1	Brugada syndrome 1 Brugada syndrome 2 Brugada syndrome 3 Brugada syndrome 4 Brugada syndrome 5 Brugada syndrome 6 Brugada syndrome 7 Brugada syndrome 8 Brugada syndrome 9 Brugada syndrome arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis atrial fibrillation congestive heart failure coronary artery disease head and neck squamous cell carcinoma nutmeg liver osteoarthritis sick sinus syndrome steatotic liver disease sudden infant death syndrome
P80108	Phosphatidylinositol-glycan-specific phospholipase D	GPLD1 PIGPLD1	10	39	Budd-Chiari syndrome Norum disease Richter's syndrome Tangier disease abetalipoproteinemia acute myocardial infarction arteriosclerotic cardiovascular disease atherosclerosis brain infarction breast cancer breast carcinoma cancer carcinoma choreaacanthocytosis chronic lymphocytic leukemia colon cancer colon carcinoma colonic benign neoplasm colorectal cancer coronary artery disease coronary thrombosis embryoma hypolipoproteinemia large intestine cancer melanoma myocardial infarction nutmeg liver osteoporosis papillary carcinoma prostate cancer prostate carcinoma rheumatoid arthritis sarcomatoid carcinoma silent myocardial infarction skin melanoma succinic semialdehyde dehydrogenase deficiency thyroid adenoma thyroid cancer thyroid gland carcinoma
P09960	Leukotriene A-4 hydrolase	LTA4H LTA4	3	2	Burkitt lymphoma Buruli ulcer disease Crohn's colitis Crohn's disease Down syndrome abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 acquired immunodeficiency syndrome acute myocardial infarction adenocarcinoma adenoma allergic asthma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis bacterial meningitis cancer cardiovascular system disease cerebral infarction cerebrovascular disease chronic myeloid leukemia colorectal cancer colorectal carcinoma coronary artery disease coronary thrombosis cribriform carcinoma depressive disorder dysthymic disorder embryoma familial nephrotic syndrome granular cell carcinoma heart disease human immunodeficiency virus infectious disease idiopathic interstitial pneumonia idiopathic pulmonary fibrosis inflammatory bowel disease 1 inflammatory bowel disease intrinsic asthma large intestine cancer laryngeal squamous cell carcinoma leprosy lipoid nephrosis major depressive disorder melancholic depression melanoma myeloproliferative disorder with eosinophilia myocardial infarction nephrotic syndrome neurotic disorder obsolete melancholia pancreatic cancer pancreatic carcinoma prostate cancer prostate carcinoma pulmonary tuberculosis silent myocardial infarction skin benign neoplasm skin cancer skin melanoma squamous cell carcinoma squamous cell neoplasm tongue squamous cell carcinoma tuberculosis tuberculous pneumothorax tubular adenocarcinoma ulcerative colitis viral meningitis
Q13478	Interleukin-18 receptor 1	IL18R1 IL1RRP	9	2	Burkitt lymphoma CD40 ligand deficiency Clostridium difficile colitis Crohn's colitis Crohn's disease Graves' disease HELLP syndrome Holt-Oram syndrome Klippel-Trenaunay syndrome MHC class II deficiency Muckle-Wells syndrome Nezelof syndrome Norum disease Richter's syndrome Rubinstein-Taybi syndrome Sezary's disease Sjogren's syndrome T-cell acute lymphoblastic leukemia Tangier disease VACTERL association X-linked severe combined immunodeficiency abdominal aortic aneurysm abetalipoproteinemia acoustic neuroma acute lymphoblastic leukemia acute myeloid leukemia acute myocardial infarction acute promyelocytic leukemia adenosine deaminase deficiency adult acute lymphocytic leukemia aggressive NK-cell leukemia alcohol dependence alcohol use disorder alcoholic hepatitis allergic asthma allergic disease allergic rhinitis amyotrophic lateral sclerosis angiomatous meningioma ankylosing spondylitis anthracosilicosis anthracosis arrhythmogenic right ventricular cardiomyopathy arteriosclerotic cardiovascular disease arthritis arthropathy asbestosis ascending cholangitis asthma atherosclerosis atopic dermatitis atypical chronic myeloid leukemia, BCR-ABL1 negative autoimmune disease autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome autoimmune thyroiditis autosomal dominant familial periodic fever bacterial infectious disease benign ependymoma benign meningioma bipolar disorder bladder carcinoma bone marrow cancer bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma brucellosis cancer cardiovascular system disease cavernous hemangioma celiac disease cellular ependymoma central nervous system cancer cerebral convexity meningioma cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervical squamous cell carcinoma cervix carcinoma childhood acute lymphocytic leukemia childhood leukemia childhood osteosarcoma cholangitis choreaacanthocytosis chorioangioma chromophobe renal cell carcinoma chronic eosinophilic leukemia chronic lymphocytic leukemia chronic monocytic leukemia chronic myeloid leukemia chronic obstructive pulmonary disease clear cell meningioma clear cell renal cell carcinoma colitis collecting duct carcinoma colorectal cancer colorectal carcinoma combined T cell and B cell immunodeficiency common variable immunodeficiency complement deficiency contagious pustular dermatitis coronary artery disease coronary thrombosis cowpox depressive disorder dermatitis diabetes mellitus diabetic ketoacidosis diarrhea dilated cardiomyopathy 1A dilated cardiomyopathy dysentery eclampsia embryoma endocrine exophthalmos endometriosis of uterus endometriosis eosinophilic esophagitis erythema infectiosum esophageal cancer esophageal carcinoma esophagitis essential thrombocythemia exanthema subitum fibrous meningioma gastritis gastroenteritis gastroesophageal reflux disease giant cell glioblastoma glioblastoma gliosarcoma glomus tumor goiter head and neck squamous cell carcinoma heart disease hemangioma hematopoietic system disease hepatitis B hepatocellular carcinoma high grade glioma histiocytoid hemangioma hypereosinophilic syndrome hyperthyroidism hypolipoproteinemia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis immune system disease inflammatory bowel disease 1 inflammatory bowel disease influenza intermediate coronary syndrome interstitial nephritis intestinal infectious disease intramuscular hemangioma intraorbital meningioma intraventricular meningioma intrinsic asthma irritable bowel syndrome juvenile myelomonocytic leukemia keratoconjunctivitis sicca large intestine cancer leech infestation leiomyoma leprosy leukemia liver cancer luminal breast carcinoma A lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung small cell carcinoma lymphangioma lymphoblastic lymphoma lymphoid leukemia lymphoplasmacyte-rich meningioma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 malaria maturity-onset diabetes of the young measles melanoma meningioma meningothelial meningioma microcystic meningioma microphthalmia with limb anomalies milker's nodule mixed glioma multiple sclerosis mumps myasthenia gravis myelodysplastic syndrome myelofibrosis myeloid leukemia myeloproliferative neoplasm myiasis myocardial infarction myofibroma myotonic dystrophy type 2 myxopapillary ependymoma nail-patella syndrome neuroblastoma neurocirculatory asthenia nonpapillary renal cell carcinoma obsolete melancholia obsolete type 1 diabetes mellitus 9 obstructive sleep apnea olfactory groove meningioma ophthalmia neonatorum ornithosis osteoarthritis osteomyelitis osteosarcoma pancreatic cancer pancreatic carcinoma papillary ependymoma papillary renal cell carcinoma parapsoriasis parasagittal meningioma peptic esophagitis periodontal disease periodontitis pituitary adenoma plasmacytoma polycythemia vera polycythemia pre-eclampsia primary biliary cholangitis primary cutaneous amyloidosis primary immunodeficiency disease primary pulmonary hypertension primary sclerosing cholangitis progressive muscular atrophy psammomatous meningioma psoriasis pulmonary emphysema pulpitis pustulosis of palm and sole pyelitis pyelonephritis red-green color blindness renal carcinoma renal cell carcinoma respiratory syncytial virus infectious disease rheumatoid arthritis rubella sarcoidosis sarcomatoid renal cell carcinoma schizophrenia sclerosing cholangitis secretory meningioma seminoma severe acute respiratory syndrome severe combined immunodeficiency silent myocardial infarction skin melanoma smallpox spinal meningioma split hand-foot malformation 1 with sensorineural hearing loss stomach cancer stomach carcinoma suppurative cholangitis systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic lupus erythematosus tanycytic ependymoma testicular cancer testicular germ cell cancer testis seminoma thrombocytopenia-absent radius syndrome thyroid gland anaplastic carcinoma thyroid gland disease thyrotoxicosis toxoplasmosis trachoma transitional meningioma tuberculosis 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 fibroid uveoparotid fever variola major variola minor vasomotor rhinitis
Q9NPC4	Lactosylceramide 4-alpha-galactosyltransferase	A4GALT A14GALT A4GALT1	4	2	Burkitt lymphoma Caffey disease acute megakaryocytic leukemia adenocarcinoma adenoma cancer cribriform carcinoma embryoma gastric adenocarcinoma granular cell carcinoma hematologic cancer hemolytic-uremic syndrome kidney failure leukemia teratocarcinoma thrombophilia tubular adenocarcinoma
Q9UQE7	Structural maintenance of chromosomes protein 3	SMC3 BAM BMH CSPG6 SMC3L1	2	1	Burkitt lymphoma Cockayne syndrome Cornelia de Lange syndrome 1 Cornelia de Lange syndrome 2 Cornelia de Lange syndrome 3 Cornelia de Lange syndrome Dubowitz syndrome Laron syndrome Marfan syndrome Meckel 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 Peters anomaly Prader-Willi syndrome Roberts syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome Turner syndrome X-linked Aarskog syndrome achondroplasia acute myeloid leukemia adenocarcinoma adenoma adult lymphoma allergic asthma anxiety disorder arteriosclerotic cardiovascular disease 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 attention deficit hyperactivity disorder atypical chronic myeloid leukemia, BCR-ABL1 negative autistic disorder autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal dominant polycystic kidney disease autosomal recessive Robinow syndrome blepharitis blind hypotensive eye bone cancer bone osteosarcoma bronchus cancer bronchus carcinoma cancer carcinoma cataract 32 multiple types cataract central nervous system lymphoma childhood lymphoma choanal atresia chondrodysplasia-pseudohermaphroditism syndrome chronic interstitial cystitis chronic monocytic leukemia cleft palate cleidocranial dysplasia clubfoot colon carcinoma colorectal cancer cone-rod dystrophy congenital diaphragmatic hernia congenital nystagmus congenital ptosis cornea plana coronary artery disease craniosynostosis cribriform carcinoma cryptorchidism dissociated nystagmus embryoma epilepsy esophagitis fundus albipunctatus gastroesophageal reflux disease generalized anxiety disorder gingivitis glaucoma gonadal dysgenesis granular cell carcinoma hepatocellular carcinoma humeroradial synostosis hydrocephalus hypertrichosis hypertropia hypospadias inguinal hernia intellectual disability interstitial cystitis intestinal benign neoplasm intestinal cancer intestinal volvulus intrinsic asthma isolated cleft palate kidney failure kwashiorkor large intestine cancer learning disability liver cancer lung benign neoplasm lung cancer lung carcinoma lymphoid leukemia lymphoma marasmus mechanical strabismus megacolon microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcephaly myeloid leukemia myopia neuropathy nutrition disease obsolete SC phocomelia syndrome obsolete ymphosarcoma ophthalmoplegia osteosarcoma patent foramen ovale pathologic nystagmus peptic esophagitis periodontitis peripheral nervous system disease placental insufficiency pneumonia prostate cancer prostate carcinoma protein-energy malnutrition prune belly syndrome ptosis pulmonary valve stenosis pyloric stenosis radioulnar synostosis retinitis pigmentosa sarcomatoid carcinoma sensorineural hearing loss situs inversus speech disorder spontaneous ocular nystagmus strabismus syndromic X-linked intellectual disability 94 thromboangiitis obliterans toxic megacolon trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tuberous sclerosis tubular adenocarcinoma ventricular septal defect vesicoureteral reflux visual epilepsy
Q10589	Bone marrow stromal antigen 2	BST2	7	25	Burkitt lymphoma Down syndrome Ebola hemorrhagic fever Japanese encephalitis acquired immunodeficiency syndrome alternating hemiplegia of childhood anaplastic astrocytoma angioedema arthritis arthropathy autonomic neuropathy bladder carcinoma brain cancer breast cancer breast carcinoma cancer central nervous system disease chikungunya childhood cerebral astrocytoma childhood leukemia chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma conduct disorder dengue disease dengue hemorrhagic fever embryoma endometrial cancer endometrial carcinoma esophagus squamous cell carcinoma exanthem fibrillary astrocytoma gemistocytic astrocytoma head and neck cancer head and neck squamous cell carcinoma hepatitis B hepatitis C hepatitis E hepatitis hepatocellular carcinoma high grade glioma human immunodeficiency virus infectious disease influenza juvenile pilocytic astrocytoma kwashiorkor large intestine cancer leukemia liver cancer lupus erythematosus malignant astrocytoma marasmus melanoma multiple myeloma multiple sclerosis nasopharynx carcinoma nervous system disease nonpapillary renal cell carcinoma nutrition disease osteoarthritis papillary renal cell carcinoma parapsoriasis peeling skin syndrome pilocytic astrocytoma primary immunodeficiency disease protein-energy malnutrition protoplasmic astrocytoma psoriasis pustulosis of palm and sole renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma scleroderma severe acute respiratory syndrome skin disease skin melanoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma systemic lupus erythematosus systemic scleroderma transitional cell carcinoma urinary bladder cancer urticaria uterine corpus cancer viral infectious disease yellow fever
P48426	Phosphatidylinositol 5-phosphate 4-kinase type-2 alpha	PIP4K2A PI5P4KA PIP5K2 PIP5K2A	0	1	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
P16109	P-selectin	SELP GMRP GRMP	13	8	Burkitt lymphoma Evans' syndrome Gilbert syndrome Glanzmann's thrombasthenia Goodpasture syndrome Kawasaki disease Proteus syndrome St. Louis encephalitis Takayasu's arteritis Zika fever abdominal obesity-metabolic syndrome 1 acquired immunodeficiency syndrome acute chest syndrome acute myocardial infarction age related macular degeneration agranulocytosis allergic asthma ankylosing spondylitis antiphospholipid syndrome antithrombin III deficiency arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis atrial fibrillation autoimmune disease autoimmune lymphoproliferative syndrome autoimmune thrombocytopenic purpura bacterial sepsis beta thalassemia bilirubin metabolic disorder blood coagulation disease brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cardiovascular system disease carotid artery disease cerebral artery occlusion cerebral infarction cerebrovascular disease chromophobe renal cell carcinoma chronic fatigue syndrome chronic kidney disease chronic obstructive pulmonary disease clear cell renal cell carcinoma colitis collecting duct carcinoma colon carcinoma colorectal cancer common cold congenital heart disease congestive heart failure corneal dystrophy coronary artery disease coronary thrombosis cystic fibrosis degeneration of macula and posterior pole depressive disorder dermatitis diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy dysthymic disorder embryoma encephalitis encephalomyelitis epithelioid sarcoma essential hypertension essential thrombocythemia familial combined hyperlipidemia familial hyperlipidemia focal segmental glomerulosclerosis gallbladder disease gastroenteritis gastrointestinal stromal tumor giant cell glioblastoma glioblastoma glomerulonephritis granulomatosis with polyangiitis gray platelet syndrome head and neck squamous cell carcinoma heart disease hematologic cancer hepatitis hepatocellular carcinoma high grade glioma human immunodeficiency virus infectious disease hypertension hypoglycemia ileitis ileocolitis immune system disease intermediate coronary syndrome intrinsic asthma keratosis follicularis kidney disease kidney failure kwashiorkor leukopenia liver cancer liver carcinoma liver disease lung adenocarcinoma lung cancer lung carcinoma lupus erythematosus macular degeneration major depressive disorder marasmus melancholic depression mongolian spot multiple myeloma multiple sclerosis myelitis myelofibrosis myocardial infarction myotonic dystrophy type 1 myotonic dystrophy type 2 nasopharyngitis nasopharynx carcinoma nephritis neuroblastoma neurotic disorder neutropenia nonpapillary renal cell carcinoma nutmeg liver nutrition disease obsolete inherited blood coagulation disease obsolete melancholia obsolete type 1 diabetes mellitus 9 ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary renal cell carcinoma parapsoriasis peripheral artery disease platelet-type bleeding disorder 17 platelet-type bleeding disorder 18 pneumonia polyarteritis nodosa portal vein thrombosis primary pulmonary hypertension proliferative diabetic retinopathy protein C deficiency protein S deficiency protein-energy malnutrition pseudoxanthoma elasticum psoriasis pulmonary embolism pustulosis of palm and sole qualitative platelet defect renal carcinoma renal cell carcinoma rheumatoid arthritis sarcoma sarcomatoid renal cell carcinoma severe congenital neutropenia sick sinus syndrome sickle cell anemia silent myocardial infarction spindle cell sarcoma systemic lupus erythematosus thrombocytopenia due to platelet alloimmunization thrombocytopenia thrombophilia transient cerebral ischemia 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 vertebrobasilar insufficiency von Willebrand's disease 3 von Willebrand's disease
Q75T13	GPI inositol-deacylase	PGAP1	4	6	Burkitt lymphoma Laron syndrome achondroplasia agnosia autosomal recessive intellectual developmental disorder brain disease cerebral degeneration choreatic disease congenital disorder of glycosylation depressive disorder developmental coordination disorder dysthymic disorder dystonia epilepsy factor XII deficiency focal epilepsy fundus dystrophy holoprosencephaly 1 holoprosencephaly intellectual disability learning disability lingual-facial-buccal dyskinesia major depressive disorder melancholic depression microcephaly neurotic disorder obsolete infantile epileptic encephalopathy obsolete melancholia paroxysmal nocturnal hemoglobinuria partial motor epilepsy stereotypic movement disorder syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability type 10 visual epilepsy
P04843	Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1	RPN1	13	21	Burkitt lymphoma acute myeloid leukemia arteriosclerotic cardiovascular disease atherosclerosis childhood leukemia chronic kidney disease coronary artery disease leukemia nutmeg liver
P10619	Lysosomal protective protein	CTSA PPGB	5	58	CADASIL 1 CADASIL Fabry disease GM1 gangliosidosis type 1 GM1 gangliosidosis Laron syndrome abdominal aortic aneurysm achondroplasia acquired immunodeficiency syndrome adult-onset leukoencephalopathy with axonal spheroids and pigmented glia allergic asthma aortic aneurysm aortic valve disease 2 aortic valve stenosis aspartylglucosaminuria asthma bone giant cell tumor cancer cavernous hemangioma chorioangioma chylomicron retention disease colitis colorectal cancer colorectal carcinoma corneal dystrophy embryoma epilepsy essential hypertension fucosidosis galactosialidosis gastroenteritis genital herpes glomus tumor glycoproteinosis hemangioma herpes simplex histiocytoid hemangioma human immunodeficiency virus infectious disease hyperglycemia hypertension idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis inflammatory breast carcinoma intellectual disability intramuscular hemangioma intrinsic asthma invasive ductal carcinoma kidney failure large intestine cancer learning disability lipid storage disease lung adenocarcinoma lung cancer lymphangioma lysosomal storage disease mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis type IVB mucopolysaccharidosis multiple epiphyseal dysplasia oophoritis osteochondrodysplasia parametritis pelvic inflammatory disease pneumonia pyosalpinx recurrent corneal erosion salpingitis sensorineural hearing loss shigellosis steatotic liver disease uremia visual epilepsy
Q14435	Polypeptide N-acetylgalactosaminyltransferase 3	GALNT3	6	7	CHARGE syndrome X-linked dyskeratosis congenita adenocarcinoma adenoma angioid streaks arteriosclerotic cardiovascular disease atherosclerosis autosomal recessive hypophosphatemic rickets bronchus cancer bronchus carcinoma calcinosis calcium metabolism disease cancer carcinoma cerebral infarction cerebrovascular disease chondrocalcinosis chromophobe renal cell carcinoma chronic kidney disease clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma coronary artery disease cribriform carcinoma dental enamel hypoplasia dental pulp calcification dentin dysplasia diabetes mellitus diabetic ketoacidosis disease of metabolism dyskeratosis congenita embryoma endometriosis of uterus endometriosis gallbladder cancer gallbladder carcinoma granular cell carcinoma hypercalcemia hyperostosis hyperphosphatemia hyperphosphatemic familial tumoral calcinosis hypotrichosis 1 hypotrichosis large intestine cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma melanoma microphthalmia musculoskeletal system disease nephrocalcinosis nodular prostate nutmeg liver obsolete Matthew-Wood syndrome obsolete type 1 diabetes mellitus 9 osteoarthritis osteoporosis ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary renal cell carcinoma phosphorus metabolism disease prostate cancer prostate carcinoma prostatic adenoma pulp degeneration renal carcinoma renal cell carcinoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma skin disease skin melanoma squamous cell carcinoma tongue squamous cell carcinoma 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 viral infectious disease
Q96AT9	Ribulose-phosphate 3-epimerase	RPE	1	1	CINCA Syndrome Doyne honeycomb retinal dystrophy Leber congenital amaurosis 1 Leber congenital amaurosis 2 Sorsby's fundus dystrophy Stargardt disease Sveinsson chorioretinal atrophy Usher syndrome type 1 Vogt-Koyanagi-Harada disease Zika fever age related macular degeneration atrial fibrillation basal laminar drusen blindness cancer cardiovascular system disease choroideremia chronic recurrent multifocal osteomyelitis ciliary body disease colon cancer colonic benign neoplasm colorectal cancer cone-rod dystrophy degeneration of macula and posterior pole diabetes mellitus diabetic cataract diabetic macular edema diabetic retinopathy embryoma eye disease familial adenomatous polyposis 1 familial adenomatous polyposis familial retinoblastoma fundus albipunctatus fundus dystrophy glycogen storage disease II heart disease hepatocellular carcinoma hole retinal cyst hyperopia iris disease islet cell tumor large intestine cancer liver cancer liver carcinoma locked-in syndrome macular degeneration macular holes melanoma myopia neovascular inflammatory vitreoretinopathy neurodegenerative disease panuveitis peripheral retinal degeneration phototoxic dermatitis preretinal fibrosis proliferative diabetic retinopathy quadriplegia retinal detachment retinal disease retinal lattice degeneration retinal perforation retinitis pigmentosa 30 retinitis pigmentosa retinitis retinoblastoma retinoschisis skin melanoma trilateral retinoblastoma type 2 diabetes mellitus uveitis vitelliform macular dystrophy
P16444	Dipeptidase 1	DPEP1 MDP RDP	6	142	Camurati-Engelmann disease Crohn's colitis Crohn's disease Duchenne muscular dystrophy Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease SAPHO syndrome X-linked lymphoproliferative syndrome 2 adenoma amyloidosis ankylosing spondylitis arthritis arthropathy 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 bladder calculus bone cancer bone osteosarcoma breast cancer breast carcinoma cancer cardiovascular system disease central nervous system cancer childhood osteosarcoma cholecystolithiasis choledocholithiasis cholelithiasis chronic kidney disease colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital muscular dystrophy distal myopathy dystonia embryoma epithelioid leiomyosarcoma essential hypertension facioscapulohumeral muscular dystrophy familial adenomatous polyposis 1 familial adenomatous polyposis familial hemiplegic migraine 2 familial hemiplegic migraine fibrodysplasia ossificans progressiva focal hand dystonia follicular adenoma generalized dystonia gliosarcoma heart disease hepatoblastoma hepatocellular carcinoma high grade glioma hypertension hyperuricemia inflammatory bowel disease 1 inflammatory bowel disease influenza interstitial nephritis invasive ductal carcinoma large intestine cancer laryngeal disease leiomyosarcoma lepromatous leprosy limb-girdle muscular dystrophy metachondromatosis microcystic adenoma microphthalmia mixed glioma mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis VI mucopolysaccharidosis muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myositis ossificans myxoid leiomyosarcoma neuroendocrine carcinoma obsolete Matthew-Wood syndrome 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 oculopharyngeal muscular dystrophy osteoarthritis osteoporosis osteosarcoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma papillary adenoma periostitis peritoneal carcinoma proliferative diabetic retinopathy prostate cancer prostate carcinoma pulmonary embolism pyelitis pyelonephritis rheumatoid arthritis rippling muscle disease 2 secondary Parkinson disease secondary hypertrophic osteoarthropathy severe nonproliferative diabetic retinopathy stone in bladder diverticulum thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland follicular carcinoma tracheal disease ulcerative colitis
Q9HC07	Putative divalent cation/proton antiporter TMEM165	TMEM165 TPARL	4	3	Camurati-Engelmann disease Laron syndrome Marfan syndrome X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 achondroplasia acoustic neuroma amelogenesis imperfecta hypomaturation type 2A2 amelogenesis imperfecta hypomaturation type 2A3 amelogenesis imperfecta hypomaturation type 2A4 amelogenesis imperfecta hypomaturation type 2A5 amelogenesis imperfecta type 1A amelogenesis imperfecta type 1B amelogenesis imperfecta type 1C amelogenesis imperfecta type 1E amelogenesis imperfecta type 1F amelogenesis imperfecta type 1G amelogenesis imperfecta type 1H amelogenesis imperfecta type 2A1 amelogenesis imperfecta type 3A amelogenesis imperfecta type 4 amelogenesis imperfecta cancer cellular schwannoma chondrodysplasia punctata congenital disorder of glycosylation type II congenital disorder of glycosylation type IIk congenital disorder of glycosylation dentin dysplasia dentinogenesis imperfecta embryoma hepatocellular carcinoma isolated elevated serum creatine phosphokinase levels liver cancer melanotic neurilemmoma meningioma neurilemmoma neurofibromatosis osteoporosis pituitary adenoma plexiform schwannoma scoliosis situs inversus tuberous sclerosis vestibular schwannomatosis

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