GlyCosmos Portal

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UniProt ID	Protein Name	Gene Symbol	No. of Glycosylation Sites	No. of GlyTouCan IDs	Disease Ontology ▲
Q7Z553	MAM domain-containing glycosylphosphatidylinositol anchor protein 2	MDGA2 MAMDC1	9	10	Balo concentric sclerosis Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease adrenoleukodystrophy benign epilepsy with centrotemporal spikes cancer central nervous system disease dissociative disorder embryoma microinvasive gastric cancer narcolepsy neurotic disorder rheumatoid arthritis sexual dysfunction stomach cancer stomach carcinoma systemic lupus erythematosus
Q8NBJ5	Procollagen galactosyltransferase 1	COLGALT1 GLT25D1	5	31	Balo concentric sclerosis Simpson-Golabi-Behmel syndrome type 1 adrenoleukodystrophy bone osteosarcoma central nervous system disease cerebral degeneration childhood osteosarcoma epilepsy locked-in syndrome narcolepsy osteosarcoma porencephaly quadriplegia visual epilepsy
O95803	Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 3	NDST3 HSST3	6	0	Balo concentric sclerosis adrenoleukodystrophy anxiety disorder central nervous system disease depressive disorder generalized anxiety disorder major depressive disorder melancholic depression narcolepsy neurotic disorder obsolete melancholia schizophrenia
P26572	Alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	MGAT1 GGNT1 GLCT1 GLYT1 MGAT	7	2	Balo concentric sclerosis adrenoleukodystrophy breast cancer breast carcinoma cancer cardiomyopathy cardiovascular system disease central nervous system cancer central nervous system disease complex partial epilepsy congestive heart failure cystinuria diabetic ketoacidosis dilated cardiomyopathy 1A dilated cardiomyopathy disease of mental health disease of metabolism embryoma endomyocardial fibrosis epilepsy galactokinase deficiency galactosemia gestational diabetes giant cell glioblastoma glioblastoma gliosarcoma glucosephosphate dehydrogenase deficiency glycine encephalopathy glycogen storage disease Ia glycogen storage disease heart disease hepatocellular carcinoma high grade glioma hypertrophic cardiomyopathy inflammatory bowel disease liver cancer mixed glioma multiple sclerosis narcolepsy nervous system disease obesity obsolete type 1 diabetes mellitus 9 prostate cancer prostate carcinoma psychotic disorder schizoaffective disorder schizophrenia schizophreniform disorder temporal lobe epilepsy type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus visual epilepsy
Q8IZP7	Heparan-sulfate 6-O-sulfotransferase 3	HS6ST3	7	1	Balo concentric sclerosis adrenoleukodystrophy breast cancer breast carcinoma cancer central nervous system disease diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy hepatitis B narcolepsy nicotine dependence obesity type 2 diabetes mellitus
P98153	Integral membrane protein DGCR2/IDD	DGCR2 IDD KIAA0163	2	4	Bannayan-Riley-Ruvalcaba syndrome Baraitser-Winter syndrome Cowden syndrome DiGeorge syndrome Fraser syndrome Goldenhar syndrome Laron syndrome Moebius syndrome Muenke Syndrome Nance-Horan syndrome Nezelof syndrome Sakati-Nyhan syndrome Warburg micro syndrome 1 Warburg micro syndrome 2 Warburg micro syndrome 3 Warburg micro syndrome 4 Weissenbacher-Zweymuller syndrome achondroplasia acromegaly acute myocardial infarction adrenal gland cancer amyloidosis autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome bipolar disorder blepharophimosis branchiootic syndrome cancer cervix disease chronic interstitial cystitis congenital heart disease coronary thrombosis craniosynostosis degenerative disc disease delusional disorder diabetes mellitus diabetic ketoacidosis double outlet right ventricle duodenum cancer embryoma epilepsy heart cancer hyperpituitarism hypoparathyroidism-deafness-renal disease syndrome hypoparathyroidism immune system disease intellectual disability interstitial cystitis learning disability microcephaly myocardial infarction myotonic dystrophy type 1 neuroblastoma obsolete type 1 diabetes mellitus 9 orofaciodigital syndrome I orofaciodigital syndrome X osteoporosis paranoid schizophrenia pheochromocytoma primary biliary cholangitis prune belly syndrome pseudohypoparathyroidism schizophrenia silent myocardial infarction small intestine cancer 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 velocardiofacial syndrome ventricular septal defect visual epilepsy
Q9NRR6	Phosphatidylinositol polyphosphate 5-phosphatase type IV	INPP5E	0	1	Bannayan-Riley-Ruvalcaba syndrome Bardet-Biedl syndrome 10 Bardet-Biedl syndrome 11 Bardet-Biedl syndrome 12 Bardet-Biedl syndrome 13 Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 15 Bardet-Biedl syndrome 16 Bardet-Biedl syndrome 17 Bardet-Biedl syndrome 18 Bardet-Biedl syndrome 19 Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 2 Bardet-Biedl syndrome 3 Bardet-Biedl syndrome 4 Bardet-Biedl syndrome 5 Bardet-Biedl syndrome 6 Bardet-Biedl syndrome 7 Bardet-Biedl syndrome 8 Bardet-Biedl syndrome 9 Bardet-Biedl syndrome Cogan syndrome Hirschsprung's disease Joubert syndrome 1 Joubert syndrome Kartagener syndrome Klippel-Feil syndrome Laurence-Moon syndrome Meckel syndrome 1 Meckel syndrome adult medulloblastoma autosomal dominant polycystic kidney disease autosomal recessive polycystic kidney disease blindness cancer cataract central sleep apnea childhood medulloblastoma cleft palate clubfoot coloboma of optic nerve coloboma communicating hydrocephalus congenital nystagmus congenital ptosis cystic kidney disease dextrocardia diffuse interstitial keratitis dissociated nystagmus embryoma epilepsy episodic kinesigenic dyskinesia 1 fundus dystrophy glomerulonephritis hepatocellular carcinoma hydrocephalus hypertropia inguinal hernia intellectual disability interstitial lung disease isolated cleft palate kidney disease kidney failure learning disability leukoplakia of penis liver cancer liver cirrhosis mechanical strabismus medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma nephritis nephrosis non-congenital cyst of kidney obesity obstructive hydrocephalus oculocerebrorenal syndrome ophthalmoplegia patent ductus arteriosus pathologic nystagmus polycystic kidney disease 4 polydactyly portal hypertension primary ciliary dyskinesia 1 primary ciliary dyskinesia ptosis pyoureter scoliosis senile degeneration of brain skin melanoma spondylolisthesis spontaneous ocular nystagmus strabismus viral infectious disease visual epilepsy visual pathway disease
Q8TBF5	Phosphatidylinositol-glycan biosynthesis class X protein	PIGX	3	3	Bannayan-Riley-Ruvalcaba syndrome Bardet-Biedl syndrome 10 Bardet-Biedl syndrome 11 Bardet-Biedl syndrome 12 Bardet-Biedl syndrome 13 Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 15 Bardet-Biedl syndrome 16 Bardet-Biedl syndrome 17 Bardet-Biedl syndrome 18 Bardet-Biedl syndrome 19 Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 2 Bardet-Biedl syndrome 3 Bardet-Biedl syndrome 4 Bardet-Biedl syndrome 5 Bardet-Biedl syndrome 6 Bardet-Biedl syndrome 7 Bardet-Biedl syndrome 8 Bardet-Biedl syndrome 9 Bardet-Biedl syndrome Laurence-Moon syndrome allergic asthma allergic disease asthma breast cancer breast carcinoma cancer dermatitis embryoma intrinsic asthma polydactyly
Q7LGC8	Carbohydrate sulfotransferase 3	CHST3	6	4	Bannayan-Riley-Ruvalcaba syndrome Bartter disease Conn's syndrome Cowden syndrome Desbuquois dysplasia Hailey-Hailey disease Laron syndrome Larsen syndrome Larsen-like syndrome B3GAT3 type Ollier disease Rothmund-Thomson syndrome SOST-related sclerosing bone dysplasia Schwartz-Jampel syndrome 1 Silverman-Handmaker type dyssegmental dysplasia Sjogren's syndrome Waterhouse-Friderichsen syndrome X-linked spondyloepiphyseal dysplasia tarda achondroplasia acute promyelocytic leukemia adenocarcinoma adenoma adrenal carcinoma adrenal cortex cancer adrenal gland cancer adrenocortical carcinoma adrenoleukodystrophy adult fibrosarcoma agnosia alcoholic hepatitis alcoholic liver cirrhosis amblyopia aortic valve disease 1 aortic valve disease 2 aortic valve insufficiency aortic valve stenosis apparent mineralocorticoid excess syndrome arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis atopic dermatitis 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 atrophy of testis autoimmune hepatitis 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 bicuspid aortic valve disease blastomycosis breast cancer breast carcinoma buphthalmos cancer cardiomyopathy cardiovascular system disease choriocarcinoma cleft palate cleidocranial dysplasia clubfoot communicating hydrocephalus congenital adrenal hyperplasia coronary artery disease craniosynostosis cutis laxa cystadenoma dermatitis developmental coordination disorder diabetes mellitus diabetic ketoacidosis diastrophic dysplasia embryoma endometrial adenocarcinoma endometrial cancer endometrial carcinoma endometrial hyperplasia endometriosis of uterus endometriosis endomyocardial fibrosis enterocele esotropia essential hypertension fibrosarcoma follicular adenoma heart disease hepatitis hereditary multiple exostoses humeroradial synostosis hydrocephalus hydrophthalmos hyperopia hypertension hypertrophic cardiomyopathy hypogonadotropic hypogonadism 23 with or without anosmia inclusion body myositis intrahepatic cholestasis isolated cleft palate juvenile glaucoma keratoconjunctivitis sicca leiomyoma liver cirrhosis lung small cell carcinoma mal de Meleda microcystic adenoma mitral valve insufficiency mitral valve prolapse mitral valve stenosis monocular esotropia mucopolysaccharidosis IV multiple epiphyseal dysplasia myofibroma neurogenic arthropathy obesity obsolete type 1 diabetes mellitus 9 obstructive hydrocephalus osteochondrodysplasia osteoporosis ovarian cancer ovarian carcinoma ovarian hyperstimulation syndrome papillary adenoma paracoccidioidomycosis patent foramen ovale placenta cancer polycystic ovary syndrome postural orthostatic tachycardia syndrome primary hyperaldosteronism primary pulmonary hypertension progressive familial intrahepatic cholestasis progressive pseudorheumatoid arthropathy of childhood pulmonary valve stenosis radioulnar synostosis restrictive dermopathy rheumatoid arthritis schizophrenia scoliosis senile degeneration of brain sensorineural hearing loss spondyloepiphyseal dysplasia congenita spondyloepiphyseal dysplasia with congenital joint dislocations strabismic amblyopia trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tricuspid valve insufficiency tricuspid valve stenosis 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 uterine corpus cancer uterine fibroid varicose veins ventricular septal defect
O95256	Interleukin-18 receptor accessory protein	IL18RAP IL1R7	4	0	Bannayan-Riley-Ruvalcaba syndrome Burkitt lymphoma Cowden syndrome Crohn's colitis Crohn's disease Graves' disease Richter's syndrome allergic asthma asthma autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome autoimmune thyroiditis bone marrow disease cancer cardiovascular system disease celiac disease cerebral infarction cerebrovascular disease chronic lymphocytic leukemia degenerative disc disease diabetic ketoacidosis esophageal disease essential hypertension goiter heart disease hypertension hyperthyroidism immune system disease inflammatory bowel disease 1 inflammatory bowel disease intrinsic asthma obsolete type 1 diabetes mellitus 9 rheumatoid arthritis spinal cord disease stomach disease syringomyelia systemic lupus erythematosus thyroid gland disease thyrotoxicosis 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 ulcerative colitis
O14521	Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial	SDHD SDH4	0	1	Bannayan-Riley-Ruvalcaba syndrome Carney-Stratakis syndrome Coffin-Siris syndrome 1 Coffin-Siris syndrome Cowden syndrome Laron syndrome Peutz-Jeghers syndrome Stevens-Johnson syndrome Unverricht-Lundborg syndrome X-linked dilated cardiomyopathy achondroplasia acoustic neuroma actinic keratosis acute promyelocytic leukemia adrenal adenoma adrenal carcinoma adrenal cortex cancer adrenal gland cancer adrenocortical carcinoma agnosia allergic asthma amnestic disorder angiomatous meningioma aniridia anxiety disorder asthma attention deficit hyperactivity disorder autistic disorder benign meningioma blepharospasm blindness breast cancer breast carcinoma cancer capillary hemangioma cardiomyopathy cataract 4 multiple types cavernous hemangioma central nervous system cancer cerebral convexity meningioma cervical adenocarcinoma cervical cancer cervix carcinoma cervix uteri carcinoma in situ chorioangioma chromophobe renal cell carcinoma clear cell meningioma clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma common cold cone-rod dystrophy congenital nystagmus congenital ptosis congestive heart failure cranial nerve disease cranial nerve palsy cutaneous fibrous histiocytoma deafness-dystonia-optic neuronopathy syndrome dementia depressive disorder developmental coordination disorder differentiated thyroid gland carcinoma 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 dissociated nystagmus duodenum cancer dysthymic disorder dystonia early myoclonic encephalopathy embryoma endometrial cancer endometrial carcinoma endomyocardial fibrosis epilepsy exanthem familial hypertrophic cardiomyopathy fibrous meningioma fissured tongue focal hand dystonia fundus albipunctatus gastrointestinal stromal tumor gastrointestinal system cancer generalized anxiety disorder geographic tongue gliosarcoma glomangioma glomerulonephritis glomus tumor goiter growth hormone secreting pituitary adenoma gynecomastia heart cancer hemangioma hepatocellular carcinoma hidradenoma high grade glioma histiocytoid hemangioma hypercalcemia hypertensive retinopathy hypertrophic cardiomyopathy hypertrophy of breast ileus infant gynecomastia insulinoma intellectual disability intestinal obstruction intramuscular hemangioma intraorbital meningioma intraventricular meningioma intrinsic asthma inverted follicular keratosis keratoacanthoma keratosis kidney cancer kidney disease large intestine cancer learning disability left ventricular noncompaction leprosy lipoma liver cancer lymphangioma major depressive disorder melancholic depression melanoacanthoma melanoma meningioma meningothelial meningioma microcephaly microcystic meningioma mitochondrial complex II deficiency mixed glioma mononeuritis multiplex mononeuritis mononeuropathy multiple endocrine neoplasia type 1 multiple endocrine neoplasia type 2A myopia nephritis nephrocalcinosis neuroblastoma neuroendocrine carcinoma neuroendocrine tumor neurofibromatosis 1 neurofibromatosis neurotic disorder nonepidermolytic palmoplantar keratoderma nonpapillary renal cell carcinoma nontoxic goiter obsolete intestinal pseudo-obstruction obsolete melancholia ocular melanoma olfactory groove meningioma ophthalmoplegia optic atrophy palmoplantar keratosis papillary renal cell carcinoma papilloma paraganglioma paralytic ileus parasagittal meningioma pathologic nystagmus pheochromocytoma phobic disorder phosphorus metabolism disease pituitary adenoma placental insufficiency pleomorphic lipoma primary autosomal recessive microcephaly 1 proteinuria psammomatous meningioma ptosis pulmonary large cell neuroendocrine carcinoma renal artery obstruction renal carcinoma renal cell carcinoma renal osteodystrophy retinitis pigmentosa retinoblastoma retrograde amnesia sarcomatoid renal cell carcinoma scoliosis seborrheic keratosis secretory meningioma sensorineural hearing loss skin disease skin melanoma skin papilloma skin tag small intestine cancer spinal meningioma spontaneous ocular nystagmus squamous cell papilloma stomach cancer stomach carcinoma syringoma thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland disease thyroid gland follicular carcinoma thyroid gland medullary carcinoma transitional meningioma trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tricuspid valve insufficiency tuberculosis tuberous sclerosis uterine corpus cancer uveal melanoma visual epilepsy von Hippel-Lindau disease
Q14055	Collagen alpha-2(IX) chain	COL9A2	2	1	Bannayan-Riley-Ruvalcaba syndrome Cowden syndrome Dowling-Degos disease Ehlers-Danlos syndrome Laron syndrome Laurin-Sandrow syndrome Osgood-Schlatter's disease Stickler syndrome achondroplasia acrodermatitis adult medulloblastoma allergic asthma alpha thalassemia-X-linked intellectual disability syndrome alpha thalassemia-intellectual disability syndrome type 1 alpha thalassemia alternating hemiplegia of childhood amblyopia arthritis arthropathy asthma astigmatism atrial fibrillation autonomic neuropathy bone disease bone osteosarcoma cancer cardiovascular system disease cartilage disease cataract central nervous system cancer central nervous system disease childhood medulloblastoma childhood osteosarcoma chondrodysplasia punctata chronic kidney disease cleft palate collagen disease connective tissue disease degenerative disc disease depressive disorder dermatitis diabetes mellitus diastrophic dysplasia disease of metabolism dysplastic nevus syndrome dysthymic disorder epithelioid sarcoma essential hypertension eye disease familial hypercholesterolemia familial mediterranean fever familial periodic paralysis gliosarcoma granuloma annulare heart disease hemoglobin H disease high grade glioma hypertension intrinsic asthma isolated cleft palate major depressive disorder medulloblastoma medullomyoblastoma melancholic depression melanotic medulloblastoma mevalonic aciduria mixed glioma mucopolysaccharidosis IV multiple epiphyseal dysplasia 2 multiple epiphyseal dysplasia myopathy myopia nervous system disease neurotic disorder obsolete melancholia osteoarthritis osteochondritis dissecans osteochondrodysplasia osteochondrosis osteogenesis imperfecta osteosarcoma pancreatic ductal adenocarcinoma pseudoachondroplasia reticulate acropigmentation of Kitamura retinal detachment rheumatoid arthritis sarcoma sensorineural hearing loss spinal stenosis spindle cell sarcoma strabismic amblyopia thalassemia thoracic aortic aneurysm type 2 diabetes mellitus
P16112	Aggrecan core protein	ACAN AGC1 CSPG1 MSK16	89	52	Bannayan-Riley-Ruvalcaba syndrome Cowden syndrome Dowling-Degos disease Ehlers-Danlos syndrome Laron syndrome Lyme disease Marfan syndrome SADDAN Silverman-Handmaker type dyssegmental dysplasia Werner syndrome X-linked spondyloepiphyseal dysplasia tarda achondroplasia actinic keratosis amyloidosis anthracosilicosis aortic valve disease 1 aortic valve disease 2 aortic valve disease aortic valve stenosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asbestosis atherosclerosis autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome 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 bagassosis bicuspid aortic valve disease bone disease cancer cardiovascular system disease carpal tunnel syndrome cartilage disease cerebral infarction cerebrovascular disease cherubism chondroblastoma chondromalacia chondrosarcoma chordoma chorioamnionitis chronic interstitial cystitis ciliary body disease colon cancer colonic benign neoplasm colorectal cancer congestive heart failure connective tissue disease coronary artery disease degenerative disc disease dental fluorosis developmental and epileptic encephalopathy 39 diabetic ketoacidosis distal myopathy enterocele epithelioid sarcoma exostosis facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy heart disease hepatocellular carcinoma hereditary multiple exostoses hypochondroplasia hypogonadism hypogonadotropic hypogonadism 7 with or without anosmia immune system disease infantile myofibromatosis interstitial cystitis iris disease juvenile rheumatoid arthritis large intestine cancer laryngeal carcinoma laryngeal disease larynx cancer limb-girdle muscular dystrophy lipoma liver cancer mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis VI mucopolysaccharidosis multiple epiphyseal dysplasia multiple symmetric lipomatosis muscular dystrophy neurogenic arthropathy nicotine dependence obesity obsessive-compulsive disorder obsessive-compulsive personality disorder obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obsolete type 1 diabetes mellitus 9 oculopharyngeal muscular dystrophy osteoarthritis osteochondritis dissecans osteochondrodysplasia osteogenesis imperfecta panuveitis periarthritis peroxisome biogenesis disorder 5A pleomorphic lipoma pneumoconiosis polycystic ovary syndrome progeria progressive pseudorheumatoid arthropathy of childhood prune belly syndrome pseudoachondroplasia reticulate acropigmentation of Kitamura rheumatoid arthritis sarcoma schizophrenia scoliosis septic arthritis siderosis situs inversus spindle cell sarcoma spondylitis spondyloarthropathy spondyloepiphyseal dysplasia congenita spondylosis status epilepticus tendinitis tracheal disease tropical spastic paraparesis tuberous sclerosis 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 uveitis
P50443	Sulfate transporter	SLC26A2 DTD DTDST	3	0	Baraitser-Winter syndrome Bartter disease Clostridium difficile colitis Conn's syndrome Fraser syndrome Goldenhar syndrome Laron syndrome Moebius syndrome Muenke Syndrome Nance-Horan syndrome Pendred Syndrome Sakati-Nyhan syndrome Warburg micro syndrome 1 Warburg micro syndrome 2 Warburg micro syndrome 3 Warburg micro syndrome 4 Waterhouse-Friderichsen syndrome Weissenbacher-Zweymuller syndrome achondrogenesis type IB achondroplasia adenocarcinoma adenoma arthritis arthropathy atelosteogenesis auditory system disease autosomal recessive osteopetrosis 7 benign mesothelioma branchiootic syndrome breast cancer cancer chondrodysplasia punctata cleft palate clubfoot colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congestive heart failure cryptorchidism cystic lymphangioma diarrhea diastrophic dysplasia disease of metabolism dyshormonogenic goiter embryoma endometritis fibrosarcoma follicular adenoma inguinal hernia irritable bowel syndrome isolated cleft palate juvenile rheumatoid arthritis large intestine cancer laryngostenosis lingual-facial-buccal dyskinesia lung benign neoplasm lung cancer lung non-small cell carcinoma malignant mesothelioma mastitis microcystic adenoma movement disease mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis VI mucopolysaccharidosis multiple epiphyseal dysplasia 4 multiple epiphyseal dysplasia neurocirculatory asthenia omphalocele orofaciodigital syndrome I orofaciodigital syndrome X osteoarthritis osteochondrodysplasia osteopetrosis osteoporosis osteosclerosis otosclerosis papillary adenoma placental insufficiency polyhydramnios primary hyperaldosteronism scoliosis sensorineural hearing loss spinal cord disease spondylolysis stomach cancer stomach carcinoma umbilical hernia
Q8WTW3	Conserved oligomeric Golgi complex subunit 1	COG1 KIAA1381 LDLB	1	1	Baraitser-Winter syndrome Burkitt lymphoma Fraser syndrome Goldenhar syndrome Moebius syndrome Muenke Syndrome Nance-Horan syndrome Richter's syndrome Sakati-Nyhan syndrome Warburg micro syndrome 1 Warburg micro syndrome 2 Warburg micro syndrome 3 Warburg micro syndrome 4 Weissenbacher-Zweymuller syndrome anemia branchiootic syndrome cerebral degeneration cerebrocostomandibular syndrome chronic lymphocytic leukemia clubfoot congenital disorder of glycosylation Ii congenital disorder of glycosylation type I congenital disorder of glycosylation type II congenital disorder of glycosylation type IIg cryptorchidism hematologic cancer hydronephrosis hypospadias kidney failure macrocytic anemia orofaciodigital syndrome I orofaciodigital syndrome X placental insufficiency primary pulmonary hypertension scoliosis sensorineural hearing loss thrombocytopenia
P48449	Lanosterol synthase	LSS OSC	0	1	Baraitser-Winter syndrome Fabry disease Fraser syndrome Goldenhar syndrome Moebius syndrome Muenke Syndrome Nance-Horan syndrome Q fever Sakati-Nyhan syndrome Warburg micro syndrome 1 Warburg micro syndrome 2 Warburg micro syndrome 3 Warburg micro syndrome 4 Weissenbacher-Zweymuller syndrome Wolman disease acquired immunodeficiency syndrome acute lymphoblastic leukemia adult acute lymphocytic leukemia alopecia ankylosing spondylitis arteriosclerotic cardiovascular disease atherosclerosis blindness bone osteosarcoma branchiootic syndrome breast cancer breast carcinoma cancer cataract 1 multiple types cataract 10 multiple types cataract 11 multiple types cataract 12 multiple types cataract 13 with adult i phenotype cataract 14 multiple types cataract 15 multiple types cataract 16 multiple types cataract 17 multiple types cataract 18 cataract 19 multiple types cataract 2 multiple types cataract 20 multiple types cataract 21 multiple types cataract 22 multiple types cataract 23 cataract 24 cataract 25 cataract 26 multiple types cataract 27 cataract 29 cataract 3 multiple types cataract 30 cataract 31 multiple types cataract 32 multiple types cataract 33 cataract 34 multiple types cataract 35 cataract 37 cataract 38 cataract 39 multiple types cataract 4 multiple types cataract 40 cataract 41 cataract 42 cataract 43 cataract 44 cataract 45 cataract 46 juvenile-onset cataract 5 multiple types cataract 6 multiple types cataract 7 cataract 8 multiple types cataract 9 multiple types cataract central nervous system cancer childhood acute lymphocytic leukemia childhood osteosarcoma chylomicron retention disease coronary artery disease diffuse idiopathic skeletal hyperostosis embryoma endometrial serous adenocarcinoma epilepsy epithelioid sarcoma essential hypertension giant cell glioblastoma glioblastoma gliosarcoma high grade glioma holoprosencephaly 1 holoprosencephaly human immunodeficiency virus infectious disease hypertension hypotrichosis 14 hypotrichosis 1 hypotrichosis intellectual disability learning disability lipid storage disease microcephaly mixed glioma orofaciodigital syndrome I orofaciodigital syndrome X ossification of the posterior longitudinal ligament of spine osteosarcoma ovary serous adenocarcinoma primary sclerosing cholangitis sarcoma sclerosing cholangitis senile cataract skin disease spinal stenosis spindle cell sarcoma squamous cell carcinoma tongue cancer tongue squamous cell carcinoma trypanosomiasis typhus visual epilepsy
P54840	Glycogen [starch] synthase, liver	GYS2	1	1	Baraitser-Winter syndrome Fraser syndrome Gerstmann-Straussler-Scheinker syndrome Goldenhar syndrome Gorham's disease Joubert syndrome 1 Joubert syndrome Laron syndrome Moebius syndrome Sakati-Nyhan syndrome Warburg micro syndrome 1 Warburg micro syndrome 2 Warburg micro syndrome 3 Warburg micro syndrome 4 Weissenbacher-Zweymuller syndrome achondroplasia adult medulloblastoma branchiootic syndrome cancer childhood medulloblastoma cystinuria disease of metabolism epilepsy familial hyperlipidemia galactosemia gestational diabetes glucosephosphate dehydrogenase deficiency 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 B hepatocellular carcinoma hyperglycemia hypoglycemia liver cancer medulloblastoma medullomyoblastoma melanotic medulloblastoma orofaciodigital syndrome I orofaciodigital syndrome X orofaciodigital syndrome polycystic ovary syndrome visual epilepsy
P54826	Growth arrest-specific protein 1	GAS1	1	1	Baraitser-Winter syndrome Fraser syndrome Goldenhar syndrome Kallmann syndrome Laron syndrome Marfan syndrome Moebius syndrome Muenke Syndrome Nance-Horan syndrome Potter's syndrome Sakati-Nyhan syndrome Sheehan syndrome Warburg micro syndrome 1 Warburg micro syndrome 2 Warburg micro syndrome 3 Warburg micro syndrome 4 Weissenbacher-Zweymuller syndrome achondroplasia allergic asthma asthma bilateral renal aplasia bladder carcinoma bone osteosarcoma branchiootic syndrome breast cancer breast carcinoma cancer cavernous hemangioma central nervous system cancer childhood osteosarcoma choanal atresia chorioangioma chromophobe renal cell carcinoma clear cell renal cell carcinoma cleft palate collecting duct carcinoma coloboma colorectal cancer colorectal carcinoma congenital hypothyroidism degenerative disc disease diabetes mellitus diabetic ketoacidosis disorder of sexual development duodenal atresia embryoma epilepsy gestational diabetes giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis glomus tumor hemangioma hereditary sensory and autonomic neuropathy type 1 hereditary sensory and autonomic neuropathy type 1A hereditary sensory neuropathy hermaphroditism high grade glioma histiocytoid hemangioma holoprosencephaly 1 holoprosencephaly hypertropia 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 intellectual disability intramuscular hemangioma intrinsic asthma isolated cleft palate 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 kidney disease large intestine cancer learning disability lymphangioma mechanical strabismus melanoma microcephaly mixed glioma myxedema nephritis nephrosis neuroblastoma neuropathy nevoid basal cell carcinoma syndrome nonpapillary renal cell carcinoma ophthalmoplegia orofaciodigital syndrome I orofaciodigital syndrome X osteosarcoma panhypopituitarism papillary adenocarcinoma papillary renal cell carcinoma peripheral nervous system disease placental insufficiency primary open angle glaucoma pseudohermaphroditism pyoureter rabies renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma scoliosis sensorineural hearing loss sensory peripheral neuropathy situs inversus skin melanoma solitary median maxillary central incisor stomach cancer stomach carcinoma strabismus tetralogy of Fallot thymus gland disease thyroid gland papillary carcinoma tuberous sclerosis type 2 diabetes mellitus urinary bladder cancer visual epilepsy
Q86Y38	Xylosyltransferase 1	XYLT1 XT1	9	2	Barber-Say syndrome Bernard-Soulier syndrome Brooke-Spiegler syndrome Desbuquois dysplasia Duchenne muscular dystrophy Ehlers-Danlos syndrome Laron syndrome abdominal aortic aneurysm achondroplasia acne acute myeloid leukemia age related macular degeneration anaplastic astrocytoma angioid streaks anodontia arthritis arthropathy cerebral infarction cerebrovascular disease childhood cerebral astrocytoma chondrodysplasia punctata cleft palate cleidocranial dysplasia clubfoot congestive heart failure degeneration of macula and posterior pole degenerative disc disease diabetes mellitus diabetic ketoacidosis enophthalmos essential hypertension fibrillary astrocytoma gemistocytic astrocytoma glaucoma glomerulonephritis high grade glioma humeroradial synostosis hypertension hypertrichosis hypotrichosis intellectual disability intermittent claudication isolated cleft palate isolated growth hormone deficiency juvenile pilocytic astrocytoma keratosis follicularis kidney disease kidney failure learning disability macular degeneration malignant astrocytoma microcephaly mitral valve insufficiency mitral valve prolapse mitral valve stenosis mongolian spot mucopolysaccharidosis IV multiple epiphyseal dysplasia muscular dystrophy myopia nephritis nephrosis obsolete exophthalmos obsolete type 1 diabetes mellitus 9 orbital disease osteoarthritis osteochondrodysplasia osteogenesis imperfecta pilocytic astrocytoma placental insufficiency pleomorphic adenoma postural orthostatic tachycardia syndrome protoplasmic astrocytoma pseudoxanthoma elasticum pyoureter qualitative platelet defect radioulnar synostosis restrictive cardiomyopathy scoliosis subependymal giant cell astrocytoma substance abuse substance-related disorder tooth agenesis 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 ventricular septal defect
Q8IY17	Patatin-like phospholipase domain-containing protein 6	PNPLA6 NTE	1	2	Bardet-Biedl syndrome Boucher-Neuhauser syndrome Brooke-Spiegler syndrome Charcot-Marie-Tooth disease type 5 Henoch-Schoenlein purpura Kallmann syndrome Klinefelter syndrome Laron syndrome Laurence-Moon syndrome Leber congenital amaurosis MASA syndrome MYH-9 related disease Mast syndrome Oliver-McFarlane syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Patau syndrome Peutz-Jeghers syndrome SPOAN syndrome Sheehan syndrome Stargardt disease Troyer syndrome achondroplasia adiposis dolorosa alopecia alternating hemiplegia of childhood amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 2 amyotrophic lateral sclerosis type 4 amyotrophic lateral sclerosis anterior horn cell disease autonomic neuropathy autosomal dominant cerebellar ataxia autosomal recessive congenital ichthyosis 1 autosomal recessive distal hereditary motor neuronopathy 1 autosomal recessive polycystic kidney disease biliary tract disease blindness blue cone monochromacy cancer cataract cavernous hemangioma central nervous system disease cerebellar ataxia cerebellar disease chorioangioma coloboma cone-rod dystrophy congenital nystagmus craniosynostosis critical illness polyneuropathy cryptorchidism dementia depressive disorder diabetes mellitus diabetic autonomic neuropathy diabetic neuropathy diabetic polyneuropathy dissociated nystagmus dysthymic disorder embryoma epilepsy focal epilepsy fundus albipunctatus fundus dystrophy glomus tumor gynecomastia hemangioma hereditary spastic paraplegia 10 hereditary spastic paraplegia 11 hereditary spastic paraplegia 12 hereditary spastic paraplegia 13 hereditary spastic paraplegia 14 hereditary spastic paraplegia 15 hereditary spastic paraplegia 16 hereditary spastic paraplegia 17 hereditary spastic paraplegia 18 hereditary spastic paraplegia 19 hereditary spastic paraplegia 23 hereditary spastic paraplegia 24 hereditary spastic paraplegia 25 hereditary spastic paraplegia 26 hereditary spastic paraplegia 27 hereditary spastic paraplegia 28 hereditary spastic paraplegia 29 hereditary spastic paraplegia 2 hereditary spastic paraplegia 30 hereditary spastic paraplegia 31 hereditary spastic paraplegia 32 hereditary spastic paraplegia 34 hereditary spastic paraplegia 35 hereditary spastic paraplegia 36 hereditary spastic paraplegia 37 hereditary spastic paraplegia 38 hereditary spastic paraplegia 39 hereditary spastic paraplegia 3A hereditary spastic paraplegia 41 hereditary spastic paraplegia 42 hereditary spastic paraplegia 43 hereditary spastic paraplegia 44 hereditary spastic paraplegia 45 hereditary spastic paraplegia 46 hereditary spastic paraplegia 48 hereditary spastic paraplegia 49 hereditary spastic paraplegia 4 hereditary spastic paraplegia 53 hereditary spastic paraplegia 54 hereditary spastic paraplegia 55 hereditary spastic paraplegia 56 hereditary spastic paraplegia 57 hereditary spastic paraplegia 5A hereditary spastic paraplegia 61 hereditary spastic paraplegia 62 hereditary spastic paraplegia 63 hereditary spastic paraplegia 64 hereditary spastic paraplegia 6 hereditary spastic paraplegia 72A hereditary spastic paraplegia 73 hereditary spastic paraplegia 75 hereditary spastic paraplegia 77 hereditary spastic paraplegia 7 hereditary spastic paraplegia 8 hereditary spastic paraplegia 9A hereditary spastic paraplegia 9B hereditary spastic paraplegia histiocytoid hemangioma hypersensitivity vasculitis hypertrophy of breast hypertropia hypogonadism hypogonadotropic hypogonadism 1 with or without anosmia hypogonadotropic hypogonadism 10 with or without anosmia hypogonadotropic hypogonadism 11 with or without anosmia hypogonadotropic hypogonadism 12 with or without anosmia hypogonadotropic hypogonadism 13 with or without anosmia hypogonadotropic hypogonadism 14 with or without anosmia hypogonadotropic hypogonadism 16 with or without anosmia hypogonadotropic hypogonadism 17 with or without anosmia hypogonadotropic hypogonadism 18 with or without anosmia hypogonadotropic hypogonadism 19 with or without anosmia hypogonadotropic hypogonadism 2 with or without anosmia hypogonadotropic hypogonadism 20 with or without anosmia hypogonadotropic hypogonadism 21 with or without anosmia hypogonadotropic hypogonadism 22 with or without anosmia hypogonadotropic hypogonadism 3 with or without anosmia hypogonadotropic hypogonadism 4 with or without anosmia hypogonadotropic hypogonadism 5 with or without anosmia hypogonadotropic hypogonadism 6 with or without anosmia hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic hypogonadism 8 with or without anosmia hypogonadotropic hypogonadism 9 with or without anosmia hypogonadotropic hypogonadism hypopituitarism ichthyosis infant gynecomastia inflammatory and toxic neuropathy intellectual disability intramuscular hemangioma 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 keratosis follicularis kidney failure lateral sclerosis learning disability lipomatosis liver cirrhosis lymphangioma major depressive disorder mechanical strabismus melancholic depression meningoencephalitis migraine without aura mongolian spot motor neuron disease multiple symmetric lipomatosis muscular atrophy nervous system disease neuroblastoma neurodegenerative disease neuropathy neurotic disorder obesity obsolete asthenopia obsolete congenital ichthyosiform erythroderma obsolete melancholia obsolete multiple symmetrical lipomatosis obstructive jaundice ophthalmoplegia optic atrophy panhypopituitarism paraplegia partial motor epilepsy pathologic nystagmus peripheral nervous system disease placental insufficiency polycystic kidney disease 4 polydactyly polyneuropathy progressive muscular atrophy pseudoxanthoma elasticum recurrent hypersomnia retinal degeneration retinitis pigmentosa sensorineural hearing loss sick building syndrome speech disorder spontaneous ocular nystagmus steatotic liver disease strabismus type 2 diabetes mellitus viral infectious disease visual epilepsy von Hippel-Lindau disease
P37287	Phosphatidylinositol N-acetylglucosaminyltransferase subunit A	PIGA	1	0	Barrett's esophagus Burkitt lymphoma Hirschsprung's disease Marfan syndrome Miller-Dieker lissencephaly syndrome Simpson-Golabi-Behmel syndrome type 1 Simpson-Golabi-Behmel syndrome type 2 Unverricht-Lundborg syndrome West syndrome acute myeloid leukemia acute myocardial infarction antithrombin III deficiency aplastic anemia atrial heart septal defect 1 atrial heart septal defect 2 atrial heart septal defect 3 atrial heart septal defect 4 atrial heart septal defect 5 atrial heart septal defect 6 atrial heart septal defect 7 atrial heart septal defect 8 atrial heart septal defect 9 atrial heart septal defect atypical hemolytic-uremic syndrome autoimmune disease autoimmune lymphoproliferative syndrome autosomal recessive congenital ichthyosis 4B blepharospasm blood coagulation disease bone marrow cancer brain disease cancer chondroma chromosome 17p13.1 deletion syndrome coronary thrombosis dental caries dentin caries developmental and epileptic encephalopathy 3 early infantile epileptic encephalopathy early myoclonic encephalopathy embryoma epilepsy esophagitis esophagus adenocarcinoma essential thrombocythemia extramedullary plasmacytoma fetal erythroblastosis focal hand dystonia gastroesophageal reflux disease gingival hypertrophy gingival overgrowth hematopoietic system disease hemoglobinuria hemolytic anemia hemolytic-uremic syndrome immune system disease inflammatory bowel disease intellectual disability learning disability lissencephaly multiple congenital anomalies-hypotonia-seizures syndrome 2 multiple myeloma myelodysplastic syndrome myeloproliferative neoplasm myocardial infarction obsolete congenital ichthyosiform erythroderma obsolete infantile epileptic encephalopathy paroxysmal nocturnal hemoglobinuria patent foramen ovale peptic esophagitis plasma cell neoplasm plasmacytoma polycythemia vera primary pulmonary hypertension protein C deficiency protein S deficiency pulmonary embolism sensorineural hearing loss silent myocardial infarction situs inversus thrombophilia thrombotic thrombocytopenic purpura transient cerebral ischemia trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tuberous sclerosis vertebrobasilar insufficiency visual epilepsy
O60218	Aldo-keto reductase family 1 member B10	AKR1B10 AKR1B11	0	1	Barrett's esophagus Burkitt lymphoma Schimke immuno-osseous dysplasia actinic keratosis acute pancreatitis adenocarcinoma adenoma adrenal cortex cancer adult respiratory distress syndrome arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis bile duct adenocarcinoma bile duct carcinoma bladder carcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiac arrest cervical adenocarcinoma cervical cancer cervix carcinoma cervix uteri carcinoma in situ cholangiocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma contact dermatitis coronary artery disease cribriform carcinoma cystic fibrosis diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy embryoma endometrial cancer endometrial carcinoma esophageal cancer esophageal carcinoma esophagus adenocarcinoma esophagus squamous cell carcinoma follicular adenoma gallbladder disease gastrointestinal system cancer giant cell glioblastoma glioblastoma granular cell carcinoma hepatitis B hepatitis C hepatocellular carcinoma high grade glioma inflammatory bowel disease 1 inflammatory bowel disease intrahepatic cholangiocarcinoma large intestine cancer leprosy liver cancer liver carcinoma liver cirrhosis liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma melanoma microcystic adenoma microphthalmia nasopharynx carcinoma neurodegeneration with brain iron accumulation 2a neurodegeneration with brain iron accumulation 2b neurodegeneration with brain iron accumulation 3 neurodegeneration with brain iron accumulation 4 neurodegeneration with brain iron accumulation 5 neurodegeneration with brain iron accumulation 6 neurodegeneration with brain iron accumulation newborn respiratory distress syndrome nicotine dependence nodular prostate obsolete Matthew-Wood syndrome occupational dermatitis pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma pancreatitis pantothenate kinase-associated neurodegeneration papillary adenoma parapsoriasis primary immunodeficiency disease prostate cancer prostate carcinoma prostatic adenoma psoriasis pustulosis of palm and sole sarcomatoid carcinoma seborrheic keratosis skin disease skin melanoma squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma tongue squamous cell carcinoma tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis urinary bladder cancer uterine corpus cancer varicose veins
Q9NPF2	Carbohydrate sulfotransferase 11	CHST11	5	3	Barrett's esophagus Costello syndrome Richter's syndrome arthritis arthropathy breast cancer breast carcinoma cancer chronic lymphocytic leukemia hepatocellular carcinoma leukoencephalopathy with vanishing white matter liver cancer osteoarthritis ovarian cancer ovarian carcinoma schizophrenia scoliosis
Q92819	Hyaluronan synthase 2	HAS2	2	1	Barrett's esophagus Down syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease adenocarcinoma adenoma allergic asthma anaplastic astrocytoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis bladder carcinoma bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma central nervous system cancer childhood cerebral astrocytoma childhood osteosarcoma chronic obstructive pulmonary disease colorectal cancer colorectal carcinoma congenital heart disease coronary artery disease cribriform carcinoma diabetes insipidus diabetes mellitus diabetic ketoacidosis embryoma endocrine exophthalmos enophthalmos essential thrombocythemia fibrillary astrocytoma gemistocytic astrocytoma gliosarcoma glomerulonephritis granular cell carcinoma high grade glioma hyperglycemia hyperuricemia idiopathic interstitial pneumonia intrinsic asthma juvenile pilocytic astrocytoma kidney disease large intestine cancer leukoencephalopathy with vanishing white matter liver cirrhosis lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoplasmacytic lymphoma macroglobulinemia malignant astrocytoma melanoma microphthalmia middle cerebral artery infarction mixed glioma multiple myeloma myelodysplastic syndrome myopia myotonic dystrophy type 1 nephritis nephrosis neurohypophyseal diabetes insipidus obesity obsolete Matthew-Wood syndrome obsolete exophthalmos obsolete lymphoplasmacytic lymphoma orbital disease osteosarcoma pilocytic astrocytoma placental insufficiency polycystic ovary syndrome postinflammatory pulmonary fibrosis primary open angle glaucoma primary pulmonary hypertension protoplasmic astrocytoma pulmonary fibrosis pulmonary hypertension pyoureter sarcomatoid carcinoma skin melanoma squamous cell carcinoma subependymal giant cell astrocytoma tetralogy of Fallot tongue squamous cell carcinoma tubular adenocarcinoma type 2 diabetes mellitus urinary bladder cancer ventricular septal defect
Q16880	2-hydroxyacylsphingosine 1-beta-galactosyltransferase	UGT8 CGT UGT4	5	21	Barrett's esophagus GM2 gangliosidosis adenocarcinoma adenoma adult oligodendroglioma adult respiratory distress syndrome allergic rhinitis anthracosilicosis anthracosis asbestosis brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer central nervous system cancer childhood oligodendroglioma classic galactosemia congenital hemolytic anemia cribriform carcinoma cystinuria dilated cardiomyopathy 1A dilated cardiomyopathy embryoma epilepsy esophagus adenocarcinoma favism galactokinase deficiency galactosemia gliosarcoma glucosephosphate dehydrogenase deficiency glycogen storage disease Ia glycogen storage disease granular cell carcinoma hepatocellular carcinoma hereditary elliptocytosis high grade glioma liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma melanoma mixed glioma mixed oligodendroglioma-astrocytoma myotonic disease myotonic dystrophy type 1 myotonic dystrophy type 2 newborn respiratory distress syndrome oligodendroglioma pancreatic cancer pancreatic carcinoma parapsoriasis parietal foramina prostate cancer prostate carcinoma psoriasis pustulosis of palm and sole skin melanoma split hand-foot malformation 1 split hand-foot malformation 2 split hand-foot malformation 3 split hand-foot malformation 4 split hand-foot malformation 5 split hand-foot malformation 6 split hand-foot malformation tubular adenocarcinoma vasomotor rhinitis visual epilepsy

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