GlyCosmos Portal

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UniProt ID	Protein Name	Gene Symbol	No. of Glycosylation Sites	No. of GlyTouCan IDs	Disease Ontology ▼
P00325	All-trans-retinol dehydrogenase [NAD(+)] ADH1B	ADH1B ADH2	0	1	Marfan syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Wernicke-Korsakoff syndrome acute myocardial infarction acute pancreatitis alcohol dependence alcohol use disorder alcoholic hepatitis alcoholic liver cirrhosis alcoholic neuropathy alcoholic pancreatitis allergic asthma allergic rhinitis amnestic disorder anaplastic astrocytoma anemia antisocial personality disorder anxiety disorder arteriosclerotic cardiovascular disease asthma atherosclerosis atrial fibrillation autosomal dominant hypocalcemia 1 autosomal dominant hypocalcemia bladder carcinoma brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiovascular system disease cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease childhood cerebral astrocytoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma corneal disease coronary artery disease coronary thrombosis degenerative disc disease depressive disorder diabetes mellitus diabetic ketoacidosis disease of metabolism dysthymic disorder embryoma enthesopathy esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma essential hypertension essential tremor exostosis fibrillary astrocytoma flat ductal epithelial atypia gallbladder disease gemistocytic astrocytoma generalized anxiety disorder head and neck cancer head and neck squamous cell carcinoma heart disease hepatitis B hepatitis C hepatocellular carcinoma heroin dependence high grade glioma hyperphosphatemia hypertension hypopharynx cancer intrinsic asthma juvenile pilocytic astrocytoma keratoconus large intestine cancer laryngeal benign neoplasm laryngeal carcinoma laryngeal squamous cell carcinoma larynx cancer leukopenia liver cancer liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphopenia macrocytic anemia major depressive disorder malaria malignant astrocytoma melancholic depression migraine morphine dependence myocardial infarction nasopharynx carcinoma neurotic disorder obesity obsolete melancholia opiate dependence oral cavity cancer oropharynx cancer ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatitis parapsoriasis periarthritis personality disorder pharynx cancer pilocytic astrocytoma placental insufficiency protoplasmic astrocytoma psoriasis psychotic disorder pustulosis of palm and sole restless legs syndrome schizoaffective disorder schizophreniform disorder silent myocardial infarction situs inversus squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma subependymal giant cell astrocytoma tendinitis thrombocytopenia tongue squamous cell carcinoma tuberous sclerosis type 2 diabetes mellitus urinary bladder cancer vascular disease vasomotor rhinitis
P14314	Glucosidase 2 subunit beta	PRKCSH G19P1	14	30	Marfan syndrome Meckel syndrome autosomal dominant polycystic kidney disease beta thalassemia breast cancer breast carcinoma cancer cerebellar ataxia, mental retardation and dysequlibrium syndrome cystic kidney disease diabetic ketoacidosis episodic ataxia type 2 esophagitis familial hemiplegic migraine 1 familial hemiplegic migraine familial hypercholesterolemia gallbladder disease gastroesophageal reflux disease hepatitis B hepatocellular carcinoma liver cancer liver disease non-congenital cyst of kidney obsolete type 1 diabetes mellitus 9 peptic esophagitis polycystic kidney disease 1 polycystic liver disease situs inversus 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
Q13563	Polycystin-2	PKD2 TRPP2	7	10	Marfan syndrome Meckel syndrome 1 Meckel syndrome 2 Meckel syndrome 3 Meckel syndrome 4 Meckel syndrome 5 Meckel syndrome 6 Meckel syndrome 8 Meckel syndrome Wiskott-Aldrich syndrome acute kidney failure adrenal gland cancer atrial fibrillation atrioventricular block autism spectrum disorder autistic disorder autosomal dominant polycystic kidney disease autosomal recessive polycystic kidney disease bile duct adenocarcinoma bile duct carcinoma bladder carcinoma bone disease breast cancer breast carcinoma cancer cartilage disease central nervous system cancer cerebellar ataxia, mental retardation and dysequlibrium syndrome cholangiocarcinoma chronic kidney disease collagen disease congenital heart disease congestive heart failure connective tissue disease cystic kidney disease disorder of sexual development distal arthrogryposis duodenum cancer embryoma episodic kinesigenic dyskinesia 1 essential hypertension familial adenomatous polyposis 1 familial adenomatous polyposis focal segmental glomerulosclerosis giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis gout heart cancer hermaphroditism high grade glioma hypertension idiopathic interstitial pneumonia idiopathic pulmonary fibrosis intracranial aneurysm intrahepatic cholangiocarcinoma islet cell tumor kidney disease kidney failure laryngeal squamous cell carcinoma lung adenocarcinoma lung cancer mixed glioma nephritis nephrosis neurodegenerative disease non-congenital cyst of kidney pheochromocytoma placental insufficiency polycystic kidney disease 1 polycystic kidney disease 2 polycystic kidney disease 4 polycystic liver disease prostate cancer prostate carcinoma pseudohermaphroditism pyoureter situs inversus small intestine cancer thoracic aortic aneurysm tuberous sclerosis uremia urinary bladder cancer
O43909	Exostosin-like 3	EXTL3 EXTL1L EXTR1 KIAA0519	10	5	MHC class II deficiency acute myeloid leukemia adenosine deaminase deficiency agnosia arteriosclerotic cardiovascular disease atherosclerosis autosomal dominant osteopetrosis 2 autosomal recessive osteopetrosis 7 bacterial sepsis brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cherubism chondrodysplasia punctata ciliary body disease cocaine abuse cocaine dependence colorectal cancer colorectal carcinoma coronary artery disease developmental coordination disorder endometriosis of uterus endometriosis epithelioid sarcoma exostosis giant cell glioblastoma glioblastoma head and neck cancer head and neck squamous cell carcinoma hereditary multiple exostoses hypereosinophilic syndrome intellectual disability iris disease large intestine cancer learning disability liver cirrhosis lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphopenia morphine dependence mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis VI mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIC mucopolysaccharidosis multiple epiphyseal dysplasia nutmeg liver osteochondrodysplasia osteopetrosis osteosclerosis panuveitis periarthritis pulmonary embolism sarcoma scoliosis secondary syphilis severe combined immunodeficiency spindle cell sarcoma tendinitis tuberculosis uveitis
P10124	Serglycin	SRGN PRG PRG1	8	0	MHC class II deficiency Sertoli cell-only syndrome Y-linked spermatogenic failure 1 acute myeloid leukemia acute promyelocytic leukemia adenosine deaminase deficiency adult respiratory distress syndrome arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer candidiasis carcinoma central nervous system cancer childhood type dermatomyositis cleft palate colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congestive heart failure coronary aneurysm coronary artery disease coronary stenosis degenerative disc disease dental caries dentin caries dermatomyositis diabetes mellitus diabetic cataract diabetic retinopathy diarrhea dilated cardiomyopathy 1A dilated cardiomyopathy disease of mental health embryoma enterocele esophagus squamous cell carcinoma essential hypertension giant cell glioblastoma glioblastoma gliosarcoma glucose intolerance gynecomastia hepatitis B hepatocellular carcinoma high grade glioma hypertension infant gynecomastia isolated cleft palate large intestine cancer liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lupus erythematosus male infertility malignant pleural mesothelioma mixed glioma multiple myeloma nasopharynx carcinoma newborn respiratory distress syndrome nutmeg liver oligospermia oral candidiasis osteoarthritis prediabetes syndrome psychotic disorder sarcomatoid carcinoma severe combined immunodeficiency type 2 diabetes mellitus
Q5FYB1	Arylsulfatase I	ARSI	4	0	Lynch syndrome abdominal aortic aneurysm anxiety disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis autistic disorder breast cancer breast carcinoma cancer cardiovascular system disease clubfoot cone-rod dystrophy coronary artery disease depressive disorder dysthymic disorder eye disease fundus albipunctatus generalized anxiety disorder heart disease intellectual disability learning disability lysosomal storage disease major depressive disorder melancholic depression neurotic disorder obsolete melancholia panic disorder phobic disorder post-traumatic stress disorder retinitis pigmentosa stomach cancer stomach carcinoma
Q16760	Diacylglycerol kinase delta	DGKD KIAA0145	3	1	Lennox-Gastaut syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease cancer diabetes mellitus embryoma epilepsy hyperglycemia nephrolithiasis obsessive-compulsive disorder open-angle glaucoma primary open angle glaucoma type 2 diabetes mellitus uric acid nephrolithiasis visual epilepsy
O15488	Glycogenin-2	GYG2	1	0	Leigh disease cystinuria 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
P11177	Pyruvate dehydrogenase E1 component subunit beta, mitochondrial	PDHB PHE1B	2	1	Leigh disease acute myocardial infarction breast cancer breast carcinoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma coronary thrombosis diabetes mellitus lactic acidosis luminal breast carcinoma A melanoma myocardial infarction nonpapillary renal cell carcinoma papillary adenocarcinoma papillary renal cell carcinoma pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma silent myocardial infarction skin melanoma thyroid gland papillary carcinoma type 2 diabetes mellitus
Q6NVY1	3-hydroxyisobutyryl-CoA hydrolase, mitochondrial	HIBCH	0	1	Leigh disease Unverricht-Lundborg syndrome West syndrome agnosia arthritis arthropathy blepharospasm brain disease cancer colorectal cancer colorectal carcinoma congenital nystagmus cryptorchidism developmental coordination disorder dissociated nystagmus dystonia early myoclonic encephalopathy epilepsy focal hand dystonia generalized dystonia hydrocephalus hypertropia inherited metabolic disorder lactic acidosis large intestine cancer mechanical strabismus neurodegenerative disease obsolete infantile epileptic encephalopathy ophthalmoplegia osteoarthritis pathologic nystagmus spontaneous ocular nystagmus strabismus tetralogy of Fallot visual epilepsy
P53597	Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial	SUCLG1	1	1	Leigh disease McCune Albright syndrome brain disease cardiomyopathy central nervous system cancer cerebral degeneration endomyocardial fibrosis epilepsy familial hypertrophic cardiomyopathy giant cell glioblastoma glioblastoma gliosarcoma high grade glioma hypertrophic cardiomyopathy hypoglycemia hypophosphatemia intellectual disability lactic acidosis learning disability methylmalonic acidemia mitochondrial DNA depletion syndrome 5 mitochondrial DNA depletion syndrome 9 mitochondrial DNA depletion syndrome mitochondrial encephalomyopathy mixed glioma skin disease stomach cancer stomach carcinoma syndromic X-linked intellectual disability 94 visual epilepsy
Q8NF37	Lysophosphatidylcholine acyltransferase 1	LPCAT1 AYTL2 PFAAP3	2	1	Leber congenital amaurosis adult respiratory distress syndrome allergic asthma asthma breast cancer breast carcinoma breast fibrocystic disease bronchus cancer bronchus carcinoma cancer carcinoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma cone-rod dystrophy cystic fibrosis embryoma fundus albipunctatus hepatitis C hepatocellular carcinoma hypereosinophilic syndrome intrinsic asthma liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma microglandular adenosis newborn respiratory distress syndrome nonpapillary renal cell carcinoma papillary renal cell carcinoma prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma retinitis pigmentosa sarcomatoid renal cell carcinoma sickle cell anemia
Q12794	Hyaluronidase-1	HYAL1 LUCA1	3	3	Laron syndrome achondroplasia arthritis arthropathy bladder carcinoma breast cancer breast carcinoma cancer carcinoma central nervous system cancer chronic obstructive pulmonary disease colorectal cancer colorectal carcinoma embryoma endometrial cancer endometrial carcinoma gliosarcoma head and neck cancer head and neck squamous cell carcinoma high grade glioma juvenile rheumatoid arthritis large intestine cancer laryngeal benign neoplasm laryngeal carcinoma larynx cancer lung benign neoplasm lung cancer lung non-small cell carcinoma lung small cell carcinoma lysosomal storage disease mixed glioma mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis IX mucopolysaccharidosis VI mucopolysaccharidosis osteoarthritis osteochondrodysplasia ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma primary pulmonary hypertension prostate cancer prostate carcinoma pulmonary hypertension sarcomatoid carcinoma skin disease squamous cell carcinoma tongue squamous cell carcinoma urinary bladder cancer uterine corpus cancer
Q10469	Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	MGAT2	8	4	Laron syndrome achondroplasia antithrombin III deficiency autosomal recessive chronic granulomatous disease 3 cancer chronic granulomatous disease clubfoot congenital disorder of glycosylation type II congenital disorder of glycosylation type IIa congenital disorder of glycosylation congenital dyserythropoietic anemia type II congenital dyserythropoietic anemia craniosynostosis diabetes mellitus diabetic ketoacidosis disease of metabolism epilepsy factor XII deficiency gestational diabetes gingival hypertrophy gingival overgrowth microcephaly neuroblastoma obesity protein C deficiency protein S deficiency sensorineural hearing loss stereotypic movement disorder syndromic X-linked intellectual disability 94 thrombophilia type 2 diabetes mellitus ventricular septal defect visual epilepsy
Q9BYC5	Alpha-(1,6)-fucosyltransferase	FUT8	4	1	Laron syndrome achondroplasia adenocarcinoma adenoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis brain disease breast cancer breast carcinoma bronchus cancer bronchus carcinoma buphthalmos cancer chronic fatigue syndrome chronic myeloid leukemia chronic obstructive pulmonary disease colorectal cancer colorectal carcinoma congenital disorder of glycosylation coronary artery disease embryoma encephalitis encephalomyelitis epilepsy follicular adenoma glaucoma hepatitis A hepatitis C hepatitis hepatocellular carcinoma hydrophthalmos idiopathic interstitial pneumonia intellectual disability juvenile glaucoma large intestine cancer learning disability liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma melanoma microcephaly microcystic adenoma myelitis ovarian cancer ovarian carcinoma pancreatic ductal adenocarcinoma pancreatic intraductal papillary-mucinous neoplasm papillary adenoma papillary carcinoma placental insufficiency polyhydramnios postinflammatory pulmonary fibrosis prostate cancer prostate carcinoma pseudomyxoma peritonei pulmonary emphysema pulmonary fibrosis schizophrenia scoliosis skin melanoma visual epilepsy
P05165	Propionyl-CoA carboxylase alpha chain, mitochondrial	PCCA	2	1	Laron syndrome achondroplasia acute pancreatitis adenocarcinoma adenoma agranulocytosis anemia cardiomyopathy cerebral degeneration colorectal cancer colorectal carcinoma cribriform carcinoma dermatitis dilated cardiomyopathy 1A dilated cardiomyopathy disease of metabolism dystonia endomyocardial fibrosis epilepsy granular cell carcinoma hypertrophic cardiomyopathy hypoglycemia intellectual disability lactic acidosis large intestine cancer learning disability macrocytic anemia neutropenia nicotine dependence obsolete constipation osteoporosis pancreatitis pancytopenia pontocerebellar hypoplasia type 2D propionic acidemia psoriatic arthritis refractive error severe congenital neutropenia sick sinus syndrome stomach cancer stomach carcinoma thrombocytopenia tubular adenocarcinoma urea cycle disorder visual epilepsy
P05166	Propionyl-CoA carboxylase beta chain, mitochondrial	PCCB	1	1	Laron syndrome achondroplasia acute pancreatitis adenocarcinoma adenoma agranulocytosis anemia anxiety disorder cardiomyopathy cerebral degeneration colorectal cancer colorectal carcinoma cribriform carcinoma dermatitis dilated cardiomyopathy 1A dilated cardiomyopathy disease of metabolism dystonia endomyocardial fibrosis epilepsy generalized anxiety disorder granular cell carcinoma hypertrophic cardiomyopathy hypoglycemia intellectual disability lactic acidosis large intestine cancer learning disability macrocytic anemia neutropenia obsolete constipation osteoporosis pancreatitis pancytopenia pontocerebellar hypoplasia type 2D propionic acidemia psoriatic arthritis schizophrenia severe congenital neutropenia sick sinus syndrome thrombocytopenia tubular adenocarcinoma urea cycle disorder visual epilepsy
Q15800	Methylsterol monooxygenase 1	MSMO1 DESP4 ERG25 SC4MOL	2	1	Laron syndrome achondroplasia actinic keratosis blepharitis cancer diabetes mellitus embryoma ichthyosis idiopathic scoliosis microcephaly obesity parapsoriasis psoriasis pustulosis of palm and sole seborrheic keratosis skin disease type 2 diabetes mellitus
P04075	Fructose-bisphosphate aldolase A	ALDOA ALDA	2	1	Laron syndrome abdominal obesity-metabolic syndrome 1 achondroplasia arthritis arthropathy bile duct adenocarcinoma bile duct cancer bile duct carcinoma bone osteosarcoma breast cancer breast carcinoma breast ductal carcinoma bronchus cancer bronchus carcinoma cancer carcinoma childhood osteosarcoma cholangiocarcinoma cholecystitis cholecystolithiasis choledocholithiasis cholelithiasis chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma congenital hemolytic anemia congenital ptosis coronary artery disease cystinuria embryoma favism 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 hemoglobinopathy hemolytic anemia hepatocellular carcinoma hereditary elliptocytosis intrahepatic cholangiocarcinoma invasive ductal carcinoma liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma nonpapillary renal cell carcinoma normocytic anemia obstructive sleep apnea osteoarthritis osteosarcoma pancreatic cancer pancreatic carcinoma papillary renal cell carcinoma ptosis renal carcinoma renal cell carcinoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma spondyloarthropathy spondylosis
Q86X52	Chondroitin sulfate synthase 1	CHSY1 CHSY CSS1 KIAA0990	6	4	Laron syndrome X-linked nonsyndromic deafness achondroplasia adult malignant schwannoma anodontia autosomal dominant auditory neuropathy 1 autosomal dominant nonsyndromic deafness 10 autosomal dominant nonsyndromic deafness 11 autosomal dominant nonsyndromic deafness 12 autosomal dominant nonsyndromic deafness 13 autosomal dominant nonsyndromic deafness 15 autosomal dominant nonsyndromic deafness 16 autosomal dominant nonsyndromic deafness 17 autosomal dominant nonsyndromic deafness 18 autosomal dominant nonsyndromic deafness 1 autosomal dominant nonsyndromic deafness 20 autosomal dominant nonsyndromic deafness 21 autosomal dominant nonsyndromic deafness 22 autosomal dominant nonsyndromic deafness 23 autosomal dominant nonsyndromic deafness 24 autosomal dominant nonsyndromic deafness 25 autosomal dominant nonsyndromic deafness 27 autosomal dominant nonsyndromic deafness 28 autosomal dominant nonsyndromic deafness 2A autosomal dominant nonsyndromic deafness 2B autosomal dominant nonsyndromic deafness 30 autosomal dominant nonsyndromic deafness 31 autosomal dominant nonsyndromic deafness 33 autosomal dominant nonsyndromic deafness 36 autosomal dominant nonsyndromic deafness 3A autosomal dominant nonsyndromic deafness 3B autosomal dominant nonsyndromic deafness 40 autosomal dominant nonsyndromic deafness 41 autosomal dominant nonsyndromic deafness 43 autosomal dominant nonsyndromic deafness 44 autosomal dominant nonsyndromic deafness 47 autosomal dominant nonsyndromic deafness 48 autosomal dominant nonsyndromic deafness 49 autosomal dominant nonsyndromic deafness 4A autosomal dominant nonsyndromic deafness 4B autosomal dominant nonsyndromic deafness 50 autosomal dominant nonsyndromic deafness 51 autosomal dominant nonsyndromic deafness 52 autosomal dominant nonsyndromic deafness 53 autosomal dominant nonsyndromic deafness 54 autosomal dominant nonsyndromic deafness 56 autosomal dominant nonsyndromic deafness 58 autosomal dominant nonsyndromic deafness 59 autosomal dominant nonsyndromic deafness 5 autosomal dominant nonsyndromic deafness 64 autosomal dominant nonsyndromic deafness 65 autosomal dominant nonsyndromic deafness 66 autosomal dominant nonsyndromic deafness 67 autosomal dominant nonsyndromic deafness 68 autosomal dominant nonsyndromic deafness 69 autosomal dominant nonsyndromic deafness 6 autosomal dominant nonsyndromic deafness 70 autosomal dominant nonsyndromic deafness 7 autosomal dominant nonsyndromic deafness 9 autosomal dominant nonsyndromic deafness autosomal recessive nonsyndromic deafness 101 autosomal recessive nonsyndromic deafness 102 autosomal recessive nonsyndromic deafness 103 autosomal recessive nonsyndromic deafness 104 autosomal recessive nonsyndromic deafness 12 autosomal recessive nonsyndromic deafness 13 autosomal recessive nonsyndromic deafness 14 autosomal recessive nonsyndromic deafness 15 autosomal recessive nonsyndromic deafness 16 autosomal recessive nonsyndromic deafness 17 autosomal recessive nonsyndromic deafness 18A autosomal recessive nonsyndromic deafness 18B autosomal recessive nonsyndromic deafness 1A autosomal recessive nonsyndromic deafness 1B autosomal recessive nonsyndromic deafness 20 autosomal recessive nonsyndromic deafness 21 autosomal recessive nonsyndromic deafness 22 autosomal recessive nonsyndromic deafness 23 autosomal recessive nonsyndromic deafness 24 autosomal recessive nonsyndromic deafness 25 autosomal recessive nonsyndromic deafness 26 autosomal recessive nonsyndromic deafness 27 autosomal recessive nonsyndromic deafness 28 autosomal recessive nonsyndromic deafness 29 autosomal recessive nonsyndromic deafness 2 autosomal recessive nonsyndromic deafness 30 autosomal recessive nonsyndromic deafness 31 autosomal recessive nonsyndromic deafness 32 autosomal recessive nonsyndromic deafness 33 autosomal recessive nonsyndromic deafness 35 autosomal recessive nonsyndromic deafness 36 autosomal recessive nonsyndromic deafness 37 autosomal recessive nonsyndromic deafness 38 autosomal recessive nonsyndromic deafness 39 autosomal recessive nonsyndromic deafness 3 autosomal recessive nonsyndromic deafness 40 autosomal recessive nonsyndromic deafness 42 autosomal recessive nonsyndromic deafness 44 autosomal recessive nonsyndromic deafness 45 autosomal recessive nonsyndromic deafness 46 autosomal recessive nonsyndromic deafness 47 autosomal recessive nonsyndromic deafness 48 autosomal recessive nonsyndromic deafness 49 autosomal recessive nonsyndromic deafness 4 autosomal recessive nonsyndromic deafness 51 autosomal recessive nonsyndromic deafness 53 autosomal recessive nonsyndromic deafness 55 autosomal recessive nonsyndromic deafness 59 autosomal recessive nonsyndromic deafness 5 autosomal recessive nonsyndromic deafness 61 autosomal recessive nonsyndromic deafness 62 autosomal recessive nonsyndromic deafness 63 autosomal recessive nonsyndromic deafness 65 autosomal recessive nonsyndromic deafness 66 autosomal recessive nonsyndromic deafness 67 autosomal recessive nonsyndromic deafness 68 autosomal recessive nonsyndromic deafness 6 autosomal recessive nonsyndromic deafness 70 autosomal recessive nonsyndromic deafness 71 autosomal recessive nonsyndromic deafness 74 autosomal recessive nonsyndromic deafness 76 autosomal recessive nonsyndromic deafness 77 autosomal recessive nonsyndromic deafness 79 autosomal recessive nonsyndromic deafness 7 autosomal recessive nonsyndromic deafness 83 autosomal recessive nonsyndromic deafness 84A autosomal recessive nonsyndromic deafness 84B autosomal recessive nonsyndromic deafness 85 autosomal recessive nonsyndromic deafness 86 autosomal recessive nonsyndromic deafness 88 autosomal recessive nonsyndromic deafness 89 autosomal recessive nonsyndromic deafness 8 autosomal recessive nonsyndromic deafness 91 autosomal recessive nonsyndromic deafness 93 autosomal recessive nonsyndromic deafness 96 autosomal recessive nonsyndromic deafness 97 autosomal recessive nonsyndromic deafness 98 autosomal recessive nonsyndromic deafness 9 autosomal recessive nonsyndromic deafness breast cancer breast carcinoma cancer childhood malignant schwannoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma embryoma epithelioid malignant peripheral nerve sheath tumor epithelioid sarcoma giant cell glioblastoma glioblastoma hepatocellular carcinoma high grade glioma large intestine cancer liver cancer malignant peripheral nerve sheath tumor myxofibrosarcoma neurilemmoma neurofibrosarcoma neuropathy nonpapillary renal cell carcinoma obsolete autosomal recessive nonsyndromic deafness 105 optic atrophy papillary renal cell carcinoma peripheral nervous system disease renal carcinoma renal cell carcinoma sarcoma sarcomatoid renal cell carcinoma spindle cell sarcoma syndactyly temtamy preaxial brachydactyly syndrome tooth agenesis
O75342	Arachidonate 12-lipoxygenase, 12R-type	ALOX12B	0	1	Laron syndrome Sjogren-Larsson syndrome achondroplasia acquired hyperkeratosis actinic keratosis adenocarcinoma adenoma alopecia anhidrosis atopic dermatitis autosomal recessive congenital ichthyosis 10 autosomal recessive congenital ichthyosis 1 autosomal recessive congenital ichthyosis 2 autosomal recessive congenital ichthyosis 3 autosomal recessive congenital ichthyosis 4A autosomal recessive congenital ichthyosis 4B autosomal recessive congenital ichthyosis 5 autosomal recessive congenital ichthyosis 6 autosomal recessive congenital ichthyosis 7 autosomal recessive congenital ichthyosis 8 autosomal recessive congenital ichthyosis 9 autosomal recessive congenital ichthyosis bacterial sepsis bronchus cancer bronchus carcinoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colonic benign neoplasm colorectal cancer cribriform carcinoma dermatitis ectropion epidermolytic hyperkeratosis granular cell carcinoma hypohidrosis hypotrichosis ichthyosis vulgaris ichthyosis intellectual disability keratitis keratoconjunctivitis keratosis follicularis kidney failure large intestine cancer learning disability lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma mongolian spot nonepidermolytic palmoplantar keratoderma nonpapillary renal cell carcinoma obsolete congenital ichthyosiform erythroderma otitis media ovarian cancer ovarian carcinoma palmoplantar keratosis pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary renal cell carcinoma prostate cancer prostate carcinoma pseudoxanthoma elasticum renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma seborrheic keratosis seminoma sensorineural hearing loss skin disease squamous cell carcinoma testicular cancer testicular germ cell cancer thyroid gland papillary carcinoma tongue squamous cell carcinoma tubular adenocarcinoma
P04066	Tissue alpha-L-fucosidase	FUCA1	5	53	Laron syndrome Sjogren's syndrome achondroplasia acquired immunodeficiency syndrome angiokeratoma anhidrosis aspartylglucosaminuria autoimmune disease autoimmune lymphoproliferative syndrome breast cancer breast carcinoma cancer cerebral degeneration colorectal cancer colorectal carcinoma congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital hypothyroidism craniosynostosis critical illness polyneuropathy diabetic cataract diabetic retinopathy embryoma enterocele epilepsy fucosidosis head and neck cancer human immunodeficiency virus infectious disease hypertrichosis hypohidrosis hypothyroidism immune system disease inflammatory and toxic neuropathy intellectual disability keratoconjunctivitis sicca large intestine cancer learning disability lipoatrophic diabetes mellitus lipodystrophy livedoid vasculitis lobular neoplasia locked-in syndrome lysosomal storage disease meningoencephalitis mucoepidermoid carcinoma mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis myxedema neuropathy papillary adenocarcinoma papillary renal cell carcinoma peripheral nervous system disease polyneuropathy quadriplegia recurrent corneal erosion scoliosis sensorineural hearing loss squamous cell carcinoma syndromic X-linked intellectual disability 94 thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma vascular skin disease visual epilepsy
P31040	Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial	SDHA SDH2 SDHF	2	1	Laron syndrome Leigh disease Unverricht-Lundborg syndrome X-linked dilated cardiomyopathy achondroplasia adrenal gland cancer agnosia anaplastic astrocytoma anemia aniridia arthritis arthropathy ataxia with oculomotor apraxia type 1 attention deficit hyperactivity disorder benign breast phyllodes tumor blepharospasm blindness bone osteosarcoma brain disease breast cancer breast carcinoma breast malignant phyllodes tumor cancer cardiomyopathy cervical adenocarcinoma cervical cancer cervix carcinoma childhood astrocytic tumor childhood cerebral astrocytoma childhood osteosarcoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colonic benign neoplasm cone-rod dystrophy congenital diaphragmatic hernia congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital nystagmus congenital ptosis congestive heart failure dementia developmental coordination disorder diabetes mellitus dilated cardiomyopathy 1A dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy dissociated nystagmus duodenum cancer dystonia early myoclonic encephalopathy embryoma endomyocardial fibrosis epilepsy epithelioid sarcoma esophageal cancer esophageal carcinoma exanthem familial adenomatous polyposis familial hypertrophic cardiomyopathy familial periodic paralysis fibrillary astrocytoma focal hand dystonia fundus albipunctatus gastric adenocarcinoma gastrointestinal stromal tumor gemistocytic astrocytoma giant cell glioblastoma glioblastoma glomerulonephritis heart cancer hepatocellular carcinoma high grade glioma hypercalcemia hypertensive retinopathy hypertrichosis hypertrophic cardiomyopathy hypertropia ileus insulinoma intellectual disability intestinal obstruction islet cell tumor isolated elevated serum creatine phosphokinase levels juvenile pilocytic astrocytoma kidney disease lactic acidosis learning disability left ventricular noncompaction leukodystrophy lipoatrophic diabetes mellitus lipodystrophy liver cancer lung cancer lung non-small cell carcinoma macrocytic anemia malignant astrocytoma mechanical strabismus melanoma mitochondrial complex II deficiency mitochondrial metabolism disease mitochondrial myopathy multiple endocrine neoplasia type 1 myopathy nephritis nephrocalcinosis neuroblastoma neuroendocrine carcinoma neuropathy nonepidermolytic palmoplantar keratoderma nonpapillary renal cell carcinoma obsolete constipation ophthalmoplegia optic atrophy 1 optic atrophy osteoarthritis osteosarcoma oxyphilic adenoma palmoplantar keratosis panic disorder papillary renal cell carcinoma paraganglioma parathyroid adenoma parathyroid carcinoma pathologic nystagmus peripheral nervous system disease pheochromocytoma phosphorus metabolism disease pilocytic astrocytoma placental insufficiency prolactinoma proteinuria protoplasmic astrocytoma ptosis rectal benign neoplasm rectum cancer renal carcinoma renal cell carcinoma renal osteodystrophy retinitis pigmentosa sarcoma sarcomatoid renal cell carcinoma schizophrenia sensorineural hearing loss skin melanoma small intestine benign neoplasm small intestine cancer spindle cell sarcoma spontaneous ocular nystagmus stomach cancer strabismus subependymal giant cell astrocytoma syndromic X-linked intellectual disability 94 type 2 diabetes mellitus ventricular septal defect vesicoureteral reflux visual epilepsy
P54793	Arylsulfatase F	ARSF	3	0	Kuhnt-Junius degeneration breast cancer cancer embryoma epithelioid sarcoma hepatocellular carcinoma inflammatory bowel disease influenza liver cancer lung benign neoplasm lung cancer lung non-small cell carcinoma multiple sclerosis myositis neuroblastoma papilloma progressive multifocal leukoencephalopathy progressive muscular atrophy prostate cancer prostate carcinoma sarcoma spinal muscular atrophy spindle cell sarcoma squamous cell carcinoma squamous cell papilloma stomach cancer stomach carcinoma substance abuse substance-related disorder systemic lupus erythematosus tongue squamous cell carcinoma
P51993	4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT6	FUT6 FCT3A	4	0	Kuhnt-Junius degeneration age related macular degeneration breast cancer cancer carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma degeneration of macula and posterior pole embryoma hepatocellular carcinoma large intestine cancer liver cancer macular degeneration pernicious anemia prostate cancer prostate carcinoma sarcomatoid carcinoma stomach cancer stomach carcinoma

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