GlyCosmos Portal

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UniProt ID	Protein Name	Gene Symbol	No. of Glycosylation Sites	No. of GlyTouCan IDs	Disease Ontology ▲
O43505	Beta-1,4-glucuronyltransferase 1	B4GAT1 B3GNT1 B3GNT6	2	3	Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome anencephaly 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 blindness breast cancer breast carcinoma cataract centronuclear myopathy coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 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 A13 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 cryptorchidism distal myopathy facioscapulohumeral muscular dystrophy glaucoma hydranencephaly hydrocephalus hydronephrosis isolated elevated serum creatine phosphokinase levels limb-girdle muscular dystrophy lissencephaly megaconial type congenital muscular dystrophy 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 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 obstructive hydrocephalus oculopharyngeal muscular dystrophy optic atrophy pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 recurrent corneal erosion retinal detachment rigid spine muscular dystrophy 1 rippling muscle disease 2 senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly syndromic X-linked intellectual disability Najm type
O95427	GPI ethanolamine phosphate transferase 1	PIGN MCD4	4	8	Dandy-Walker syndrome Hirschsprung's disease Marfan syndrome Meckel syndrome Miller-Dieker lissencephaly syndrome Paget's disease of bone acute monocytic leukemia acute myeloid leukemia amblyopia 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 polycystic kidney disease basal ganglia disease blepharitis blepharospasm cerebral degeneration chromosome 17p13.1 deletion syndrome chronic recurrent multifocal osteomyelitis cleft palate colorectal cancer colorectal carcinoma congenital diaphragmatic hernia congenital nystagmus cryptorchidism dissociated nystagmus duodenal atresia epilepsy esophagitis esotropia essential thrombocythemia focal hand dystonia gastroesophageal reflux disease gingival hypertrophy gingival overgrowth heart septal defect holoprosencephaly 1 holoprosencephaly hydrocephalus hydronephrosis hypospadias idiopathic interstitial pneumonia imperforate anus intellectual disability isolated cleft palate large intestine cancer learning disability lingual-facial-buccal dyskinesia lissencephaly lung adenocarcinoma lung cancer mammary Paget's disease microphthalmia monocular esotropia movement disease multiple congenital anomalies-hypotonia-seizures syndrome 1 myelodysplastic syndrome omphalocele patent ductus arteriosus patent foramen ovale pathologic nystagmus peptic esophagitis polyhydramnios postinflammatory pulmonary fibrosis primary pulmonary hypertension pulmonary fibrosis recurrent corneal erosion renal agenesis situs inversus spontaneous ocular nystagmus strabismic amblyopia tetralogy of Fallot tuberous sclerosis umbilical hernia vesicoureteral reflux visual epilepsy
P15291	Beta-1,4-galactosyltransferase 1	B4GALT1 GGTB2	9	3	Dandy-Walker syndrome IgA glomerulonephritis arteriosclerotic cardiovascular disease atherosclerosis bladder carcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer childhood leukemia chronic myeloid leukemia colorectal cancer colorectal carcinoma congenital disorder of glycosylation type IId congenital disorder of glycosylation coronary artery disease diabetic ketoacidosis embryoma familial periodic paralysis hepatitis hepatocellular carcinoma isolated elevated serum creatine phosphokinase levels large intestine cancer leukemia liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma mastitis myopathy obsolete type 1 diabetes mellitus 9 rheumatoid arthritis 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 urinary bladder cancer
Q96MW5	Conserved oligomeric Golgi complex subunit 8	COG8	1	1	Dandy-Walker syndrome Unverricht-Lundborg syndrome alternating esotropia alveolar soft part sarcoma blepharospasm brain disease clubfoot colorectal cancer colorectal carcinoma congenital disorder of glycosylation Ii congenital disorder of glycosylation type I congenital disorder of glycosylation type II congenital disorder of glycosylation type IIh congenital disorder of glycosylation developmental and epileptic encephalopathy 36 early myoclonic encephalopathy epilepsy esophageal cancer esophageal carcinoma focal hand dystonia hepatocellular carcinoma hydrocephalus hypoglycemia intellectual disability isolated elevated serum creatine phosphokinase levels large intestine cancer learning disability liver cancer lung benign neoplasm lung carcinoma microcephaly protein-losing enteropathy scoliosis status epilepticus stomach cancer stomach carcinoma visual epilepsy
P32019	Type II inositol 1,4,5-trisphosphate 5-phosphatase	INPP5B OCRL2	0	1	Dent disease Duchenne muscular dystrophy Joubert syndrome 1 Joubert syndrome amyotrophic lateral sclerosis 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 congenital hypothyroidism congenital muscular dystrophy distal myopathy facioscapulohumeral muscular dystrophy giant cell glioblastoma glaucoma glioblastoma hypothyroidism limb-girdle muscular dystrophy muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myxedema 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 progressive muscular atrophy rippling muscle disease 2
O75063	Glycosaminoglycan xylosylkinase	FAM20B KIAA0475	2	4	Desbuquois dysplasia Ehlers-Danlos syndrome osteogenesis imperfecta parapsoriasis psoriasis pustulosis of palm and sole
O95394	Phosphoacetylglucosamine mutase	PGM3 AGM1	0	1	Desbuquois dysplasia Laron syndrome MHC class II deficiency Richter's syndrome achondroplasia adenosine deaminase deficiency agranulocytosis allergic asthma allergic rhinitis asthma atopic dermatitis bacterial sepsis breast cancer breast carcinoma bronchiectasis central nervous system lymphoma chronic ethmoiditis chronic lymphocytic leukemia chronic sphenoidal sinusitis chronic ulcer of skin combined T cell and B cell immunodeficiency congenital disorder of glycosylation cystic fibrosis dermatitis epilepsy esophagitis gastroesophageal reflux disease granuloma annulare hemolytic anemia hyper IgE recurrent infection syndrome 1 hypereosinophilic syndrome intellectual disability intrinsic asthma lactose intolerance learning disability lymphoma lymphopenia membranoproliferative glomerulonephritis mucopolysaccharidosis IV multiple epiphyseal dysplasia neuropathy neutropenia obsolete ymphosarcoma osteochondrodysplasia osteomyelitis otitis media pancytopenia peptic esophagitis peripheral nervous system disease polyneuropathy primary immunodeficiency disease scoliosis sensorineural hearing loss severe combined immunodeficiency severe congenital neutropenia subacute sclerosing panencephalitis vasomotor rhinitis visual epilepsy
P52848	Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1	NDST1 HSST HSST1	4	0	DiGeorge syndrome Treacher Collins syndrome acute myocardial infarction adult respiratory distress syndrome agnosia breast cancer breast carcinoma cancer cerebral degeneration chikungunya choreatic disease chromophobe renal cell carcinoma chronic fatigue syndrome clear cell renal cell carcinoma collecting duct carcinoma congenital diaphragmatic hernia coronary thrombosis dengue hemorrhagic fever depressive disorder developmental coordination disorder diabetes mellitus diabetic ketoacidosis dysthymic disorder dystonia embryoma encephalitis encephalomyelitis epilepsy focal epilepsy gastrointestinal stromal tumor giant cell glioblastoma glioblastoma glomerulonephritis hiatus hernia high grade glioma hypereosinophilic syndrome intellectual disability kidney disease learning disability lingual-facial-buccal dyskinesia liver cirrhosis major depressive disorder melancholic depression microcephaly microphthalmia myelitis myocardial infarction nephritis nephrosis neurotic disorder newborn respiratory distress syndrome nonpapillary renal cell carcinoma obsolete infantile epileptic encephalopathy obsolete melancholia papillary renal cell carcinoma partial motor epilepsy pyoureter renal carcinoma renal cell carcinoma rheumatoid arthritis sarcomatoid renal cell carcinoma silent myocardial infarction stereotypic movement disorder syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability type 10 type 2 diabetes mellitus velocardiofacial syndrome visual epilepsy
P11172	Uridine 5'-monophosphate synthase	UMPS	0	1	Diamond-Blackfan anemia Gilbert syndrome agranulocytosis anemia basal cell carcinoma beta thalassemia bile duct adenocarcinoma bile duct carcinoma bilirubin metabolic disorder bladder carcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carbamoyl phosphate synthetase I deficiency disease carcinoma carpal tunnel syndrome cholangiocarcinoma colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma congenital hypoplastic anemia coronary artery disease diarrhea disease of metabolism embryoma esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma gastrointestinal system cancer gonorrhea hepatocellular carcinoma hereditary spherocytosis intellectual disability intrahepatic cholangiocarcinoma large intestine cancer learning disability leukopenia liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma macrocytic anemia malaria megaloblastic anemia neutropenia orotic aciduria pancreatic cancer pancreatic carcinoma patent ductus arteriosus prostate cancer prostate carcinoma prostatic adenoma rectal benign neoplasm rectum adenocarcinoma rectum cancer sarcomatoid carcinoma sebaceous carcinoma severe congenital neutropenia sickle cell anemia squamous cell carcinoma stomach cancer stomach carcinoma sweat gland cancer thalassemia tongue squamous cell carcinoma tuberculosis urinary bladder cancer
Q8NBL1	Protein O-glucosyltransferase 1	POGLUT1 C3orf9 CLP46 KTELC1 MDSRP	5	23	Dowling-Degos disease Duchenne muscular dystrophy T-cell acute lymphoblastic leukemia T-cell adult acute lymphocytic leukemia acute myeloid leukemia 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 cancer childhood T-cell acute lymphoblastic leukemia childhood leukemia colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital muscular dystrophy distal myopathy embryoma essential thrombocythemia facioscapulohumeral muscular dystrophy hematopoietic system disease isolated elevated serum creatine phosphokinase levels keratosis follicularis large intestine cancer leukemia limb-girdle muscular dystrophy lung cancer lung non-small cell carcinoma mongolian spot muscular dystrophy myelodysplastic syndrome myofibrillar myopathy 1 myofibrillar myopathy 3 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 primary biliary cholangitis pseudoxanthoma elasticum reticulate acropigmentation of Kitamura rippling muscle disease 2
Q9H488	GDP-fucose protein O-fucosyltransferase 1	POFUT1 FUT12 KIAA0180	2	17	Dowling-Degos disease acrodermatitis actinic keratosis acute myocardial infarction bone marrow cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma chronic obstructive pulmonary disease colorectal cancer colorectal carcinoma congestive heart failure coronary artery anomaly coronary thrombosis dermatitis gallbladder disease hepatocellular carcinoma invasive ductal carcinoma large intestine cancer liver cancer liver disease lung benign neoplasm lung cancer lung carcinoma microcephaly myeloproliferative neoplasm myocardial infarction reticulate acropigmentation of Kitamura schizophrenia seborrheic keratosis silent myocardial infarction skin disease
Q7L5Y1	Mitochondrial enolase superfamily member 1	ENOSF1 RTS TYMSAS	0	1	Down syndrome Hailey-Hailey disease Holt-Oram syndrome Klippel-Trenaunay syndrome Marfan syndrome Plasmodium falciparum malaria Rothmund-Thomson syndrome Rubinstein-Taybi syndrome VACTERL association Werner syndrome adult lymphoma arachnoiditis autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa autosomal recessive cutis laxa type IA autosomal recessive cutis laxa type IB autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIB autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID autosomal recessive cutis laxa type IIIA autosomal recessive cutis laxa type IIIB cancer central nervous system cancer central nervous system lymphoma cerebral malaria childhood leukemia childhood lymphoma colorectal cancer colorectal carcinoma congenital central hypoventilation syndrome cutaneous mastocytosis cutis laxa diffuse cutaneous mastocytosis embryoma endometrial cancer endometrial carcinoma exanthem gliosarcoma hepatitis B herpes zoster high grade glioma intellectual disability large intestine cancer learning disability leukemia lymphoma mal de Meleda malaria mastocytosis meningitis microphthalmia with limb anomalies mixed glioma mixed sleep apnea nail-patella syndrome obsolete ymphosarcoma obstructive sleep apnea ovarian cancer ovarian carcinoma poikiloderma with neutropenia progeria rabies restrictive dermopathy situs inversus sleep apnea split hand-foot malformation 1 with sensorineural hearing loss stomach cancer stomach carcinoma thrombocytopenia-absent radius syndrome tuberous sclerosis urticaria pigmentosa uterine corpus cancer
P17858	ATP-dependent 6-phosphofructokinase, liver type	PFKL	3	6	Down syndrome Lafora disease Unverricht-Lundborg syndrome arteriosclerotic cardiovascular disease atherosclerosis bipolar disorder coronary artery disease cystinuria dentatorubral-pallidoluysian atrophy early myoclonic encephalopathy galactosemia glucosephosphate dehydrogenase deficiency glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease hepatocellular carcinoma liver cancer mood disorder obsolete major affective disorder 1 obsolete major affective disorder 2 progressive myoclonus epilepsy 1A progressive myoclonus epilepsy tetralogy of Fallot ventricular septal defect
Q9UNK4	Group IID secretory phospholipase A2	PLA2G2D SPLASH	1	0	Down syndrome arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease ascending cholangitis atherosclerosis breast cancer cancer cholangitis chronic obstructive pulmonary disease colon cancer colon carcinoma colonic benign neoplasm colorectal cancer coronary artery disease embryoma large intestine cancer primary sclerosing cholangitis sclerosing cholangitis suppurative cholangitis
Q9UKK3	Protein mono-ADP-ribosyltransferase PARP4	PARP4 ADPRTL1 KIAA0177 PARPL	4	1	Down syndrome breast cancer breast carcinoma cancer central nervous system lymphoma childhood leukemia colon cancer colonic benign neoplasm colorectal cancer embryoma esophagus squamous cell carcinoma goiter intracranial hypertension large intestine cancer leukemia lymphoma obsolete ymphosarcoma pancreatic cancer pancreatic carcinoma pseudotumor cerebri thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland disease
O43451	Maltase-glucoamylase	MGAM MGA MGAML	26	110	Duchenne muscular dystrophy Fabry disease Gaucher's disease Gerstmann-Straussler-Scheinker syndrome Gorham's disease Japanese encephalitis adenocarcinoma adenoma amyotrophic lateral sclerosis arteriosclerotic cardiovascular disease atherosclerosis 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 brachydactyly type C brachydactyly breast cancer breast carcinoma cancer cardiomyopathy cardiovascular system disease chylomicron retention disease congenital disorder of glycosylation congenital muscular dystrophy coronary artery disease cribriform carcinoma cystic fibrosis cystinuria dengue disease depressive disorder diabetes mellitus diabetic ketoacidosis dilated cardiomyopathy 1A dilated cardiomyopathy distal myopathy embryoma endomyocardial fibrosis facioscapulohumeral muscular dystrophy familial hypertrophic cardiomyopathy familial periodic paralysis galactosemia glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease granular cell carcinoma heart disease hyperglycemia hypertrophic cardiomyopathy hypoglycemia limb-girdle muscular dystrophy lipid storage disease lysosomal storage disease major depressive disorder melancholic depression muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myotonic dystrophy type 1 myotonic dystrophy type 2 neuromuscular disease nutmeg liver obesity 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 constipation obsolete melancholia oculopharyngeal muscular dystrophy progressive muscular atrophy prolactinoma punctate palmoplantar keratoderma type III rippling muscle disease 2 squamous cell carcinoma tongue squamous cell carcinoma tubular adenocarcinoma type 2 diabetes mellitus viral infectious disease yellow fever
O00443	Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha	PIK3C2A	7	1	Duchenne muscular dystrophy Gamstorp-Wohlfart syndrome Kaposi's sarcoma Laron syndrome Norum disease Tangier disease Unverricht-Lundborg syndrome abetalipoproteinemia achondroplasia acquired immunodeficiency syndrome acute myocardial infarction anodontia arteriosclerotic cardiovascular disease atherosclerosis 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 blepharospasm breast cancer breast carcinoma cancer choreaacanthocytosis chronic monocytic leukemia congenital hypothyroidism congenital muscular dystrophy coronary artery disease coronary thrombosis cryptorchidism diabetes mellitus disease of mental health distal myopathy early myoclonic encephalopathy embryoma episodic ataxia type 1 facioscapulohumeral muscular dystrophy familial periodic paralysis fibromyalgia focal hand dystonia gastrointestinal stromal tumor glaucoma hypercalcemia hyperphosphatemia hypolipoproteinemia hypothyroidism leukopenia limb-girdle muscular dystrophy lymphoid leukemia muscular dystrophy myeloid leukemia myocardial infarction myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myositis myotonic dystrophy type 2 myxedema nephrocalcinosis neuroleptic malignant syndrome nutmeg liver 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 phosphorus metabolism disease placental insufficiency protein-losing enteropathy psychotic disorder rippling muscle disease 2 schizoaffective disorder schizophrenia schizophreniform disorder scoliosis sensorineural hearing loss silent myocardial infarction systemic lupus erythematosus thrombocytopenia tibial muscular dystrophy tooth agenesis type 2 diabetes mellitus
Q6ZVN8	Hemojuvelin	HJV HFE2 RGMC	3	1	Duchenne muscular dystrophy Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Kallmann syndrome Meckel syndrome 8 Sheehan syndrome Wilson disease X-linked dilated cardiomyopathy amenorrhea anaplastic astrocytoma androgen insensitivity syndrome arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis autosomal recessive polycystic kidney disease azoospermia bacterial infectious disease beta thalassemia breast cancer breast carcinoma cardiomyopathy cerebral infarction cerebrovascular disease childhood cerebral astrocytoma cholestasis chronic kidney disease congenital hypothyroidism congenital nongoitrous hypothyroidism 4 congestive heart failure coronary artery disease diabetes mellitus diabetic ketoacidosis 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 endomyocardial fibrosis essential hypertension essential thrombocythemia fibrillary astrocytoma gemistocytic astrocytoma hemochromatosis type 1 hemochromatosis type 2 hemochromatosis type 2A hemochromatosis hepatitis C hepatocellular carcinoma high grade glioma hypertension hypertrophic cardiomyopathy hypogonadism hypogonadotropic hypogonadism 1 with or without anosmia hypogonadotropic hypogonadism 10 with or without anosmia hypogonadotropic hypogonadism 11 with or without anosmia hypogonadotropic hypogonadism 12 with or without anosmia hypogonadotropic hypogonadism 13 with or without anosmia hypogonadotropic hypogonadism 14 with or without anosmia hypogonadotropic hypogonadism 16 with or without anosmia hypogonadotropic hypogonadism 17 with or without anosmia hypogonadotropic hypogonadism 18 with or without anosmia hypogonadotropic hypogonadism 19 with or without anosmia hypogonadotropic hypogonadism 2 with or without anosmia hypogonadotropic hypogonadism 20 with or without anosmia hypogonadotropic hypogonadism 21 with or without anosmia hypogonadotropic hypogonadism 22 with or without anosmia hypogonadotropic hypogonadism 3 with or without anosmia hypogonadotropic hypogonadism 4 with or without anosmia hypogonadotropic hypogonadism 5 with or without anosmia hypogonadotropic hypogonadism 6 with or without anosmia hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic hypogonadism 8 with or without anosmia hypogonadotropic hypogonadism 9 with or without anosmia hypogonadotropic hypogonadism hypopituitarism hypothyroidism impotence infertility iron metabolism disease isolated growth hormone deficiency type IA isolated growth hormone deficiency type IB isolated growth hormone deficiency type II isolated growth hormone deficiency type III isolated growth hormone deficiency juvenile pilocytic astrocytoma kwashiorkor liver cancer lung squamous cell carcinoma malignant astrocytoma marasmus microcytic anemia middle cerebral artery infarction muscular dystrophy myelodysplastic syndrome myxedema neurogenic arthropathy nutrition disease obesity osteoporosis panhypopituitarism pilocytic astrocytoma polycystic kidney disease 4 porphyria cutanea tarda premature ejaculation protein-energy malnutrition protoplasmic astrocytoma psychologic dyspareunia sick sinus syndrome steatotic liver disease subependymal giant cell astrocytoma thalassemia
Q92187	CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase	ST8SIA4 PST PST1 SIAT8D	6	5	Duchenne muscular dystrophy Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Norum disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Tangier disease abetalipoproteinemia acne acute pancreatitis adrenoleukodystrophy alcohol dependence alcohol use disorder alcoholic hepatitis alcoholic liver cirrhosis alternating hemiplegia of childhood anal carcinoma in situ anaplastic astrocytoma ankylosing spondylitis arteriosclerotic cardiovascular disease atherosclerosis autonomic neuropathy breast cancer breast carcinoma bronchus cancer bronchus carcinoma bulimia nervosa cancer carcinoma carotid artery thrombosis carotid stenosis central nervous system disease cerebral infarction cerebrovascular disease cervix uteri carcinoma in situ childhood cerebral astrocytoma childhood leukemia cholecystolithiasis choledocholithiasis cholelithiasis choreaacanthocytosis chromophobe renal cell carcinoma chronic kidney disease chronic myeloid leukemia clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma complement deficiency coronary artery disease depressive disorder diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy diarrhea dysthymic disorder embryoma esophageal cancer esophageal carcinoma essential hypertension fibrillary astrocytoma fragile X syndrome gallbladder cancer gallbladder carcinoma gallbladder disease gemistocytic astrocytoma giant cell glioblastoma glioblastoma glomerulonephritis gyrate atrophy hepatocellular carcinoma hereditary spherocytosis high grade glioma hypertension hypolipoproteinemia hypoparathyroidism juvenile pilocytic astrocytoma kidney disease large intestine cancer laryngeal squamous cell carcinoma leukemia liver cancer liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma major depressive disorder malignant astrocytoma melancholic depression muscular dystrophy myotonic disease myotonic dystrophy type 1 myotonic dystrophy type 2 nephritis nervous system disease neuroblastoma neurotic disorder nonpapillary renal cell carcinoma nutmeg liver obsolete melancholia pancreatitis papillary renal cell carcinoma papilloma periodontitis pilocytic astrocytoma pneumonia prostate cancer prostate carcinoma protoplasmic astrocytoma pseudohypoparathyroidism renal carcinoma renal cell carcinoma rhabdomyosarcoma rhinitis sarcoidosis sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia sinusitis squamous cell carcinoma squamous cell papilloma steatotic liver disease subependymal giant cell astrocytoma substance abuse substance-related disorder systemic lupus erythematosus thyroid gland follicular carcinoma tongue squamous cell carcinoma type 2 diabetes mellitus uveoparotid fever
O15056	Synaptojanin-2	SYNJ2 KIAA0348	0	1	Duchenne muscular dystrophy Joubert syndrome 1 Joubert syndrome amyotrophic lateral sclerosis 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 breast cancer bronchus cancer bronchus carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congenital muscular dystrophy depressive disorder distal myopathy facioscapulohumeral muscular dystrophy giant cell glioblastoma glioblastoma large intestine cancer limb-girdle muscular dystrophy lung cancer lung carcinoma muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 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 progressive muscular atrophy rippling muscle disease 2
P35573	Glycogen debranching enzyme	AGL GDE	2	1	Duchenne muscular dystrophy Laron syndrome achondroplasia acute promyelocytic leukemia atrichia with papular lesions 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 carcinoma cancer cardiomyopathy colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital muscular dystrophy cystinuria disease of metabolism distal myopathy endomyocardial fibrosis facioscapulohumeral muscular dystrophy familial hyperlipidemia familial partial lipodystrophy familial periodic paralysis galactosemia giardiasis glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease III glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease hepatitis C hypertrophic cardiomyopathy hypoglycemia isolated elevated serum creatine phosphokinase levels kidney failure large intestine cancer limb-girdle muscular dystrophy lipoatrophic diabetes mellitus lipodystrophy liver cirrhosis lung cancer lung non-small cell carcinoma muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy nodular nonsuppurative panniculitis 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 panniculitis primary immunodeficiency disease rippling muscle disease 2 uremia urinary bladder cancer
Q8N3Y3	Xylosyl- and glucuronyltransferase LARGE2	LARGE2 GYLTL1B	3	5	Duchenne muscular dystrophy acute myocardial infarction 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 cancer congenital muscular dystrophy coronary thrombosis distal myopathy embryoma facioscapulohumeral muscular dystrophy limb-girdle muscular dystrophy muscular dystrophy myocardial infarction myofibrillar myopathy 1 myofibrillar myopathy 3 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 prostate cancer prostate carcinoma rippling muscle disease 2 silent myocardial infarction transitional cell carcinoma
O60762	Dolichol-phosphate mannosyltransferase subunit 1	DPM1	0	1	Duchenne muscular dystrophy antithrombin III deficiency 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 capillary disease cavernous hemangioma chorioangioma congenital disorder of glycosylation Ie congenital disorder of glycosylation Iq congenital disorder of glycosylation type I congenital muscular dystrophy distal myopathy facioscapulohumeral muscular dystrophy glomus tumor hemangioma hereditary hemorrhagic telangiectasia histiocytoid hemangioma intramuscular hemangioma isolated elevated serum creatine phosphokinase levels limb-girdle muscular dystrophy lymphangioma microcephaly muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 nonsyndromic congenital nail disorder 9 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 patent ductus arteriosus protein C deficiency protein S deficiency rippling muscle disease 2 telangiectasis thrombophilia
Q8NHY0	Beta-1,4 N-acetylgalactosaminyltransferase 2	B4GALNT2 GALGT2	0	1	Duchenne muscular dystrophy 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 campomelic dysplasia cancer carcinoma cerebrotendinous xanthomatosis congenital muscular dystrophy coronary artery disease distal myopathy embryoma facioscapulohumeral muscular dystrophy limb-girdle muscular dystrophy muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 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 rippling muscle disease 2 sarcomatoid carcinoma
Q9P2X0	Dolichol-phosphate mannosyltransferase subunit 3	DPM3	2	2	Duchenne muscular dystrophy 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 cardiomyopathy clubfoot congenital disorder of glycosylation type I congenital muscular dystrophy distal myopathy endomyocardial fibrosis facioscapulohumeral muscular dystrophy hypertrophic cardiomyopathy isolated elevated serum creatine phosphokinase levels limb-girdle muscular dystrophy muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 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 rippling muscle disease 2

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