GlyCosmos Portal

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UniProt ID	Protein Name	Gene Symbol	Organism	No. of Glycosylation Sites	No. of GlyTouCan IDs	Disease Ontology ▼
P35504	UDP-glucuronosyltransferase 1A5	UGT1A5 GNT1 UGT1	Homo sapiens (human)	3	2	Crigler-Najjar syndrome Gaucher's disease Gilbert syndrome abdominal obesity-metabolic syndrome 1 agranulocytosis beta thalassemia bilirubin metabolic disorder cancer carcinoma cholecystolithiasis choledocholithiasis cholelithiasis cryptococcosis diabetes mellitus embryoma epilepsy gallbladder disease glycogen storage disease II hepatitis D influenza leukopenia liver disease neonatal jaundice neutropenia obesity prostate cancer prostate carcinoma sarcomatoid carcinoma severe congenital neutropenia sickle cell anemia thalassemia type 2 diabetes mellitus visual epilepsy xeroderma pigmentosum group D
Q9HAW9	UDP-glucuronosyltransferase 1A8	UGT1A8 GNT1 UGT1	Homo sapiens (human)	3	2	Crigler-Najjar syndrome Gaucher's disease Gilbert syndrome abdominal obesity-metabolic syndrome 1 agranulocytosis alpha thalassemia-X-linked intellectual disability syndrome alpha thalassemia-intellectual disability syndrome type 1 alpha thalassemia beta thalassemia bilirubin metabolic disorder bladder carcinoma breast cancer breast carcinoma cancer carcinoma cardiac arrest cholecystolithiasis choledocholithiasis cholelithiasis cholestasis chronic myeloid leukemia colorectal cancer colorectal carcinoma cryptococcosis cystinuria diabetes mellitus diarrhea differentiated thyroid gland carcinoma embryoma epilepsy esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma female reproductive organ cancer galactosemia gallbladder disease glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease Ia glycogen storage disease hemoglobin H disease hepatitis D hereditary spherocytosis influenza kernicterus due to isoimmunization kernicterus large intestine cancer leiomyoma leukopenia liver disease myofibroma neonatal jaundice neutropenia nodular prostate obesity prostate cancer prostate carcinoma prostatic adenoma rheumatoid arthritis sarcomatoid carcinoma schizophrenia severe congenital neutropenia sickle cell anemia steatotic liver disease stomach cancer stomach carcinoma thalassemia type 2 diabetes mellitus urinary bladder cancer uterine fibroid visual epilepsy xeroderma pigmentosum group D
Q9HAW8	UDP-glucuronosyltransferase 1A10	UGT1A10 GNT1 UGT1	Homo sapiens (human)	3	2	Crigler-Najjar syndrome Gaucher's disease Gilbert syndrome abdominal obesity-metabolic syndrome 1 agranulocytosis alpha thalassemia-X-linked intellectual disability syndrome alpha thalassemia-intellectual disability syndrome type 1 alpha thalassemia beta thalassemia bile duct adenocarcinoma bile duct carcinoma bilirubin metabolic disorder bladder carcinoma breast cancer breast carcinoma cancer carcinoma cardiac arrest cholangiocarcinoma cholecystolithiasis choledocholithiasis cholelithiasis cholestasis chronic myeloid leukemia colorectal cancer colorectal carcinoma cryptococcosis cystinuria diabetes mellitus diarrhea differentiated thyroid gland carcinoma embryoma epilepsy female reproductive organ cancer galactosemia gallbladder disease glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease Ia glycogen storage disease hemoglobin H disease hepatitis D hepatocellular carcinoma hereditary spherocytosis influenza intrahepatic cholangiocarcinoma kernicterus due to isoimmunization kernicterus large intestine cancer leukopenia liver cancer liver disease lung benign neoplasm lung carcinoma lung small cell carcinoma neonatal jaundice neutropenia nodular prostate obesity prostate cancer prostate carcinoma prostatic adenoma rheumatoid arthritis sarcomatoid carcinoma severe congenital neutropenia sickle cell anemia squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma thalassemia tongue squamous cell carcinoma type 2 diabetes mellitus urinary bladder cancer visual epilepsy xeroderma pigmentosum group D
P35503	UDP-glucuronosyltransferase 1A3	UGT1A3 GNT1 UGT1	Homo sapiens (human)	4	41	Crigler-Najjar syndrome Gaucher's disease Gilbert syndrome abdominal obesity-metabolic syndrome 1 agranulocytosis allergic asthma asthma beta thalassemia bilirubin metabolic disorder breast cancer breast carcinoma cancer carcinoma cholecystolithiasis choledocholithiasis cholelithiasis cholestasis cryptococcosis diabetes mellitus differentiated thyroid gland carcinoma embryoma epilepsy familial adenomatous polyposis 1 familial adenomatous polyposis gallbladder disease glycogen storage disease II hepatitis D influenza intrinsic asthma islet cell tumor leukopenia liver disease lung adenocarcinoma lung cancer neonatal jaundice neutropenia obesity pancreatic cancer pancreatic carcinoma prostate cancer prostate carcinoma sarcomatoid carcinoma schizophrenia severe congenital neutropenia sickle cell anemia thalassemia type 2 diabetes mellitus visual epilepsy xeroderma pigmentosum group D
P19224	UDP-glucuronosyltransferase 1-6	UGT1A6 GNT1 UGT1	Homo sapiens (human)	2	2	Crigler-Najjar syndrome Gaucher's disease Gilbert syndrome abdominal obesity-metabolic syndrome 1 adenocarcinoma adenoma agranulocytosis allergic asthma alpha thalassemia-X-linked intellectual disability syndrome alpha thalassemia-intellectual disability syndrome type 1 alpha thalassemia arteriosclerotic cardiovascular disease asthma atherosclerosis beta thalassemia bilirubin metabolic disorder bladder carcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiac arrest cardiovascular system disease childhood acute lymphocytic leukemia cholecystolithiasis choledocholithiasis cholelithiasis cholestasis chronic myeloid leukemia colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma contact dermatitis coronary artery disease cryptococcosis cystinuria diabetes mellitus diarrhea differentiated thyroid gland carcinoma embryoma epilepsy female reproductive organ cancer follicular adenoma galactosemia gallbladder disease gastritis glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease Ia glycogen storage disease head and neck cancer head and neck squamous cell carcinoma heart disease hemoglobin H disease hepatitis B hepatitis D hepatocellular carcinoma hereditary spherocytosis influenza intrinsic asthma kernicterus due to isoimmunization kernicterus large intestine cancer leukopenia liver cancer liver disease lung benign neoplasm lung cancer lung carcinoma microcystic adenoma neonatal jaundice neutropenia nodular prostate nutmeg liver obesity occupational dermatitis papillary adenoma prostate cancer prostate carcinoma prostatic adenoma rheumatoid arthritis sarcomatoid carcinoma severe congenital neutropenia sickle cell anemia status epilepticus steatotic liver disease stomach cancer stomach carcinoma thalassemia type 2 diabetes mellitus urinary bladder cancer visual epilepsy xeroderma pigmentosum group D
O60656	UDP-glucuronosyltransferase 1A9	UGT1A9 GNT1 UGT1	Homo sapiens (human)	3	4	Crigler-Najjar syndrome Gaucher's disease Gilbert syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Plasmodium falciparum malaria abdominal obesity-metabolic syndrome 1 acute kidney failure adult hepatocellular carcinoma agranulocytosis atopic dermatitis beta thalassemia bilirubin metabolic disorder bladder carcinoma breast cancer cancer carcinoma childhood hepatocellular carcinoma cholecystolithiasis choledocholithiasis cholelithiasis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma cryptococcosis dermatitis diabetes mellitus diarrhea embryoma epilepsy gallbladder disease glycogen storage disease II hepatitis D hepatocellular carcinoma influenza kidney disease large intestine cancer leukopenia liver cancer liver disease lung cancer lung non-small cell carcinoma neonatal jaundice neutropenia obesity obsolete constipation obsolete dyspepsia prostate cancer prostate carcinoma sarcomatoid carcinoma severe congenital neutropenia sickle cell anemia squamous cell carcinoma stomach cancer thalassemia tongue squamous cell carcinoma type 2 diabetes mellitus urinary bladder cancer visual epilepsy xeroderma pigmentosum group D
P22310	UDP-glucuronosyltransferase 1A4	UGT1A4 GNT1 UGT1	Homo sapiens (human)	4	2	Crigler-Najjar syndrome Fleck corneal dystrophy Gaucher's disease Gilbert syndrome abdominal obesity-metabolic syndrome 1 agranulocytosis alpha thalassemia-X-linked intellectual disability syndrome alpha thalassemia-intellectual disability syndrome type 1 alpha thalassemia beta thalassemia bilirubin metabolic disorder breast cancer breast carcinoma cancer carcinoma cardiac arrest celiac disease cholecystolithiasis choledocholithiasis cholelithiasis cholestasis chronic myeloid leukemia colorectal cancer colorectal carcinoma cryptococcosis cystinuria diabetes mellitus diarrhea differentiated thyroid gland carcinoma embryoma epilepsy female reproductive organ cancer galactosemia gallbladder disease glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease Ia glycogen storage disease hematologic cancer hemoglobin H disease hepatitis D hereditary spherocytosis influenza kernicterus due to isoimmunization kernicterus large intestine cancer leukopenia liver disease neonatal jaundice neutropenia nodular prostate obesity prostate cancer prostate carcinoma prostatic adenoma rheumatoid arthritis sarcomatoid carcinoma severe congenital neutropenia sickle cell anemia steatotic liver disease stomach cancer stomach carcinoma thalassemia type 2 diabetes mellitus visual epilepsy xeroderma pigmentosum group D
Q9HAW7	UDP-glucuronosyltransferase 1A7	UGT1A7 GNT1 UGT1	Homo sapiens (human)	4	3	Crigler-Najjar syndrome Crohn's colitis Crohn's disease Gaucher's disease Gilbert syndrome abdominal obesity-metabolic syndrome 1 acute pancreatitis adult hepatocellular carcinoma agranulocytosis alcoholic pancreatitis alpha thalassemia-X-linked intellectual disability syndrome alpha thalassemia-intellectual disability syndrome type 1 alpha thalassemia beta thalassemia bilirubin metabolic disorder bladder carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiac arrest childhood hepatocellular carcinoma cholecystolithiasis choledocholithiasis cholelithiasis cholestasis chronic myeloid leukemia colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma cryptococcosis cystinuria diabetes mellitus diarrhea differentiated thyroid gland carcinoma embryoma epilepsy female reproductive organ cancer galactosemia gallbladder disease gastrointestinal system cancer glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease Ia glycogen storage disease head and neck cancer head and neck squamous cell carcinoma hemoglobin H disease hepatitis B hepatitis C hepatitis D hepatocellular carcinoma hereditary spherocytosis inflammatory bowel disease 1 inflammatory bowel disease influenza kernicterus due to isoimmunization kernicterus large intestine cancer laryngeal benign neoplasm laryngeal carcinoma laryngeal disease larynx cancer leukopenia liver cancer liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma neonatal jaundice neutropenia nodular prostate obesity pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatitis prostate cancer prostate carcinoma prostatic adenoma rheumatoid arthritis sarcomatoid carcinoma severe congenital neutropenia sickle cell anemia squamous cell carcinoma status epilepticus steatotic liver disease stomach cancer stomach carcinoma thalassemia tongue squamous cell carcinoma tracheal disease type 2 diabetes mellitus ulcerative colitis urinary bladder cancer visual epilepsy xeroderma pigmentosum group D
P18669	Phosphoglycerate mutase 1	PGAM1 PGAMA	Homo sapiens (human)	1	1	Creutzfeldt-Jakob disease Sertoli cell-only syndrome X-linked spermatogenic failure 1 Y-linked spermatogenic failure 1 adenocarcinoma adenoma anaplastic astrocytoma anemia arthritis arthropathy bipolar disorder bladder carcinoma bone osteosarcoma breast cancer breast carcinoma cancer carcinoma central nervous system cancer childhood cerebral astrocytoma childhood osteosarcoma colorectal cancer colorectal carcinoma cribriform carcinoma embryoma fibrillary astrocytoma gemistocytic astrocytoma giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma hepatocellular carcinoma high grade glioma juvenile pilocytic astrocytoma large intestine cancer leiomyoma liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma macrocytic anemia malaria malignant astrocytoma microphthalmia mixed glioma myofibroma obsolete Matthew-Wood syndrome oligospermia osteoarthritis osteosarcoma pancreatic ductal adenocarcinoma pilocytic astrocytoma prostate cancer prostate carcinoma protoplasmic astrocytoma sarcomatoid carcinoma squamous cell carcinoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma tongue squamous cell carcinoma tubular adenocarcinoma urinary bladder cancer uterine fibroid
P40925	Malate dehydrogenase, cytoplasmic	MDH1 MDHA	Homo sapiens (human)	2	2	Creutzfeldt-Jakob disease Gerstmann-Straussler-Scheinker syndrome X-linked dilated cardiomyopathy adult respiratory distress syndrome amyotrophic lateral sclerosis cancer cone-rod dystrophy 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 embryoma fatal familial insomnia fundus albipunctatus lung cancer lung non-small cell carcinoma microphthalmia newborn respiratory distress syndrome obsolete Matthew-Wood syndrome pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma progressive muscular atrophy retinitis pigmentosa schizophrenia
P10515	Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial	DLAT DLTA	Homo sapiens (human)	0	1	Cogan syndrome Sjogren's syndrome acute myeloid leukemia adrenoleukodystrophy angioimmunoblastic T-cell lymphoma ankylosing spondylitis arteriovenous malformation autoimmune disease autoimmune hepatitis autoimmune lymphoproliferative syndrome autoimmune polyendocrine syndrome type 1 autoimmune polyendocrine syndrome basal ganglia disease bile duct adenocarcinoma bile duct cancer bile duct carcinoma blepharospasm breast cancer breast carcinoma cholangiocarcinoma cholestasis congenital nystagmus congenital ptosis coronary artery disease diabetes mellitus diabetic ketoacidosis diffuse interstitial keratitis dissociated nystagmus dystonia focal hand dystonia gallbladder disease head and neck squamous cell carcinoma hepatitis A hepatitis hepatocellular carcinoma immune system disease influenza keratoconjunctivitis sicca lactic acidosis leukemia liver cancer liver cirrhosis liver disease lupus erythematosus microcephaly obsolete type 1 diabetes mellitus 9 parapsoriasis pathologic nystagmus placental insufficiency primary biliary cholangitis primary sclerosing cholangitis psoriasis psoriatic arthritis ptosis pustulosis of palm and sole pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency scleroderma sclerosing cholangitis spontaneous ocular nystagmus steatotic liver disease systemic lupus erythematosus systemic scleroderma 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 vascular disease
Q96IV0	Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase	NGLY1 PNG1	Homo sapiens (human)	1	1	Cogan syndrome NGLY1-deficiency Unverricht-Lundborg syndrome West syndrome alternating exotropia amyotrophic lateral sclerosis anhidrosis antithrombin III deficiency atrophic gastritis blepharospasm cancer cerebral degeneration choreatic disease cone-rod dystrophy congenital afibrinogenemia congenital ptosis corneal neovascularization corneal ulcer craniosynostosis critical illness polyneuropathy diffuse interstitial keratitis early myoclonic encephalopathy embryoma epilepsy exotropia factor V deficiency factor VII deficiency focal epilepsy focal hand dystonia fundus albipunctatus hydrocephalus hypertropia hypohidrosis inflammatory and toxic neuropathy lingual-facial-buccal dyskinesia mechanical strabismus melanoma meningoencephalitis microcephaly monocular exotropia movement disease neuropathy obsolete infantile epileptic encephalopathy obstructive sleep apnea ophthalmoplegia optic atrophy osteoporosis peripheral nervous system disease placental insufficiency polyneuropathy progressive muscular atrophy protein C deficiency protein S deficiency ptosis recurrent corneal erosion retinitis pigmentosa scoliosis skin melanoma stomach cancer stomach carcinoma strabismus syndromic X-linked intellectual disability type 10 thrombophilia visual epilepsy
P51648	Aldehyde dehydrogenase family 3 member A2	ALDH3A2 ALDH10 FALDH	Homo sapiens (human)	0	1	Cogan syndrome Laron syndrome Senior-Loken syndrome Sjogren-Larsson syndrome X-linked adrenal hypoplasia congenita achondroplasia acquired hyperkeratosis acrodermatitis age related macular degeneration allergic asthma alternating hemiplegia of childhood angioedema asthma autonomic neuropathy 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 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 central nervous system disease cerebral palsy cone-rod dystrophy corneal disease degeneration of macula and posterior pole dental enamel hypoplasia dermatitis diabetic ketoacidosis epilepsy ethylmalonic encephalopathy fundus albipunctatus granuloma annulare hepatitis B ichthyosis intellectual disability intrinsic asthma keratoconus keratosis follicularis learning disability lipid metabolism disorder localized scleroderma locked-in syndrome lung cancer lung non-small cell carcinoma macular degeneration microcephaly mongolian spot mucopolysaccharidosis IV multiple epiphyseal dysplasia myopia nephronophthisis nervous system disease normal pressure hydrocephalus obsolete asthenopia obsolete congenital ichthyosiform erythroderma obsolete type 1 diabetes mellitus 9 osteochondrodysplasia papilloma paraplegia pseudoxanthoma elasticum quadriplegia retinal disease retinitis pigmentosa retinitis scleroderma scoliosis spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy squamous cell papilloma squamous papillomatosis systemic scleroderma 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 urticaria visual epilepsy
Q7Z7B1	Phosphatidylinositol-glycan biosynthesis class W protein	PIGW	Homo sapiens (human)	1	0	Cogan syndrome Hirschsprung's disease Unverricht-Lundborg syndrome West syndrome alternating hemiplegia of childhood autonomic neuropathy blepharospasm capillary disease central nervous system disease congenital diaphragmatic hernia craniosynostosis diffuse interstitial keratitis early myoclonic encephalopathy epilepsy esotropia focal hand dystonia hereditary hemorrhagic telangiectasia hydronephrosis hyperopia intellectual disability learning disability monocular esotropia nervous system disease obsolete infantile epileptic encephalopathy oligohydramnios pneumonia scoliosis syndromic X-linked intellectual disability 94 telangiectasis visual epilepsy
Q8TEQ8	GPI ethanolamine phosphate transferase 3	PIGO	Homo sapiens (human)	4	2	Cogan syndrome Hirschsprung's disease Marfan syndrome Unverricht-Lundborg syndrome absence epilepsy blepharospasm capillary disease childhood absence epilepsy cleft palate colorectal cancer colorectal carcinoma craniosynostosis diffuse interstitial keratitis early myoclonic encephalopathy esotropia focal hand dystonia hereditary hemorrhagic telangiectasia hydronephrosis hyperopia imperforate anus intellectual disability isolated cleft palate large intestine cancer learning disability monocular esotropia nonepidermolytic palmoplantar keratoderma oligohydramnios palmoplantar keratosis scoliosis sensorineural hearing loss situs inversus syndromic X-linked intellectual disability 94 telangiectasis tuberous sclerosis visual epilepsy
Q96FM1	Post-GPI attachment to proteins factor 3	PGAP3 CAB2 PERLD1	Homo sapiens (human)	1	7	Cogan syndrome Crohn's colitis Crohn's disease Hirschsprung's disease Marfan syndrome Unverricht-Lundborg syndrome allergic asthma asthma bipolar disorder blepharospasm breast cancer breast carcinoma bruxism capillary disease congenital diaphragmatic hernia congenital disorder of glycosylation craniosynostosis diffuse interstitial keratitis early myoclonic encephalopathy epilepsy esotropia focal hand dystonia hereditary hemorrhagic telangiectasia hydronephrosis hyperopia inflammatory bowel disease 1 inflammatory bowel disease intellectual disability intrinsic asthma isolated cleft palate learning disability lingual-facial-buccal dyskinesia monocular esotropia movement disease oligohydramnios scoliosis situs inversus stomach cancer stomach carcinoma syndromic X-linked intellectual disability 94 telangiectasis tuberous sclerosis ulcerative colitis visual epilepsy
P08559	Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial	PDHA1 PHE1A	Homo sapiens (human)	1	1	Coffin-Lowry syndrome Leigh disease Lewy body dementia Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease West syndrome abdominal obesity-metabolic syndrome 1 anemia arthritis arthropathy basal ganglia disease bile duct adenocarcinoma bile duct carcinoma blepharospasm cancer carcinoma cardiomyopathy cerebellar ataxia cerebellar disease cerebral degeneration cerebral palsy cholangiocarcinoma communicating hydrocephalus cone-rod dystrophy congenital nystagmus congenital ptosis coronary artery disease dissociated nystagmus dystonia embryoma endomyocardial fibrosis epilepsy episodic ataxia esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma familial hypertrophic cardiomyopathy fetal akinesia deformation sequence syndrome 1 fetal akinesia deformation sequence syndrome focal hand dystonia fundus albipunctatus generalized dystonia head and neck squamous cell carcinoma hemiplegia hepatocellular carcinoma hydrocephalus hypertrichosis hypertrophic cardiomyopathy hypertropia inherited metabolic disorder intellectual disability intrahepatic cholangiocarcinoma lactic acidosis learning disability leukodystrophy lingual-facial-buccal dyskinesia liver cancer macrocytic anemia mechanical strabismus microcephaly mitochondrial metabolism disease mitochondrial myopathy movement disease neuropathy obsolete infantile epileptic encephalopathy obstructive hydrocephalus ophthalmoplegia optic atrophy osteoarthritis pathologic nystagmus peripheral nervous system disease placental insufficiency prostate cancer prostate carcinoma ptosis pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency retinitis pigmentosa sarcomatoid carcinoma senile degeneration of brain sensorineural hearing loss spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spontaneous ocular nystagmus stomach cancer stomach carcinoma strabismus syndromic X-linked intellectual disability 94 ventricular septal defect visual epilepsy
P23434	Glycine cleavage system H protein, mitochondrial	GCSH	Homo sapiens (human)	0	1	Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome Prader-Willi syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome Unverricht-Lundborg syndrome X-linked Aarskog syndrome autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome blepharospasm brain disease breast cancer breast carcinoma cancer central nervous system lymphoma chondrodysplasia-pseudohermaphroditism syndrome early myoclonic encephalopathy embryoma epilepsy focal hand dystonia glycine encephalopathy intellectual disability learning disability lymphoma microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II obsolete ymphosarcoma schizophrenia urea cycle disorder visual epilepsy
P15328	Folate receptor alpha	FOLR1 FOLR	Homo sapiens (human)	3	68	Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome Prader-Willi syndrome Rett syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome Stevens-Johnson syndrome X-linked Aarskog syndrome acoustic neuroma acute myocardial infarction adult medulloblastoma alcohol dependence alcohol use disorder angiomatous meningioma autism spectrum disorder autistic disorder autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome benign meningioma benign mesothelioma bone osteosarcoma bronchus cancer bronchus carcinoma cancer carcinoma cerebral convexity meningioma cervical cancer cervical squamous cell carcinoma cervix carcinoma childhood medulloblastoma chondrodysplasia-pseudohermaphroditism syndrome clear cell meningioma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer coronary thrombosis embryoma endometrial cancer endometrial carcinoma endometrial serous adenocarcinoma epilepsy erythema multiforme familial retinoblastoma fibrous meningioma giant cell glioblastoma glioblastoma hepatocellular carcinoma hyperhomocysteinemia intraorbital meningioma intraventricular meningioma large intestine cancer liver cancer lung cancer lung carcinoma malignant mesothelioma malignant pleural mesothelioma medulloblastoma medullomyoblastoma melanotic medulloblastoma meningioma meningothelial meningioma microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcystic meningioma multiple myeloma myelomeningocele myocardial infarction nasopharynx carcinoma neuropathy olfactory groove meningioma osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma parasagittal meningioma peripheral nervous system disease phototoxic dermatitis pituitary adenoma psammomatous meningioma retinoblastoma sarcomatoid carcinoma secretory meningioma silent myocardial infarction spina bifida spinal meningioma stomach cancer stomach carcinoma tethered spinal cord syndrome transitional meningioma trilateral retinoblastoma uterine cancer uterine corpus cancer
Q9UBV7	Beta-1,4-galactosyltransferase 7	B4GALT7 XGALT1	Homo sapiens (human)	1	0	Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Ehlers-Danlos syndrome spondylodysplastic type 1 Ehlers-Danlos syndrome spondylodysplastic type 2 Ehlers-Danlos syndrome Hailey-Hailey disease IgA glomerulonephritis Laron syndrome Larsen-like syndrome B3GAT3 type Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome Prader-Willi syndrome Robinow syndrome Rothmund-Thomson syndrome Seckel syndrome Silver-Russell syndrome X-linked Aarskog syndrome achondroplasia aortic valve disease 2 aortic valve stenosis arthritis arthropathy autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa autosomal recessive Robinow syndrome 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 bone disease cartilage disease chondrodysplasia-pseudohermaphroditism syndrome cleidocranial dysplasia clubfoot colitis collagen disease coloboma congenital disorder of glycosylation type IId congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 connective tissue disease cryptorchidism cutis laxa enophthalmos gastroenteritis gingivitis hepatocellular carcinoma humeroradial synostosis ileitis ileocolitis lipoatrophic diabetes mellitus lipodystrophy liver cancer mal de Meleda microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II mucopolysaccharidosis IV multiple epiphyseal dysplasia obsolete exophthalmos orbital disease osteoarthritis osteochondrodysplasia osteogenesis imperfecta pulmonary valve stenosis radioulnar synostosis restrictive dermopathy rheumatoid arthritis scoliosis skin disease spermatic cord torsion trichohepatoenteric syndrome 1 trichohepatoenteric syndrome
Q9H1B5	Xylosyltransferase 2	XYLT2 XT2	Homo sapiens (human)	19	2	Cockayne syndrome Cornelia de Lange syndrome Desbuquois dysplasia Dubowitz syndrome Ewing sarcoma Gilbert syndrome Meckel syndrome Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Prader-Willi syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome T-cell acute lymphoblastic leukemia X-linked Aarskog syndrome acute biphenotypic leukemia acute leukemia acute myocardial infarction age related macular degeneration amblyopia angioid streaks ataxia telangiectasia 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 Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal dominant polycystic kidney disease autosomal recessive Robinow syndrome bacterial infectious disease bilirubin metabolic disorder bladder carcinoma blindness brain stem infarction cancer cannabis abuse cannabis dependence cataract cerebral artery occlusion cerebral infarction cerebrovascular disease cholera chondrodysplasia-pseudohermaphroditism syndrome chronic kidney disease chronic monocytic leukemia chronic myelomonocytic leukemia clubfoot congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital nystagmus congestive heart failure coronary thrombosis degeneration of macula and posterior pole depressive disorder diabetes mellitus diabetic ketoacidosis dissociated nystagmus dysthymic disorder embryoma essential hypertension gallbladder disease glomerulonephritis hepatic veno-occlusive disease hepatitis B herpes simplex hypertension intellectual disability intermittent claudication juvenile myelomonocytic leukemia keratosis follicularis kidney disease kidney failure learning disability lichen disease lipoatrophic diabetes mellitus lipodystrophy liver disease localized scleroderma macular degeneration major depressive disorder melancholic depression microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microphthalmia mitral valve insufficiency mitral valve prolapse mitral valve stenosis mongolian spot myocardial infarction myopia nephritis nephrosis neurotic disorder obesity obsolete melancholia obsolete type 1 diabetes mellitus 9 osteoporosis papilloma patent foramen ovale pathologic nystagmus pleomorphic adenoma pneumocystosis postural orthostatic tachycardia syndrome pseudoxanthoma elasticum psoriatic arthritis pyoureter restrictive cardiomyopathy retinal detachment scleroderma sensorineural hearing loss silent myocardial infarction skin benign neoplasm skin cancer spontaneous ocular nystagmus squamous cell papilloma steatotic liver disease strabismic amblyopia systemic scleroderma thrombocytopenia trichohepatoenteric syndrome 1 trichohepatoenteric syndrome 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 urinary bladder cancer ventricular septal defect viral infectious disease xeroderma pigmentosum group A xeroderma pigmentosum group B xeroderma pigmentosum group C xeroderma pigmentosum group D xeroderma pigmentosum group E xeroderma pigmentosum group F xeroderma pigmentosum group G xeroderma pigmentosum variant type xeroderma pigmentosum
O95271	Poly [ADP-ribose] polymerase tankyrase-1	TNKS PARP5A PARPL TIN1 TINF1 TNKS1	Homo sapiens (human)	0	1	Cockayne syndrome Cornelia de Lange syndrome 1 Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome Prader-Willi syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome X-linked Aarskog syndrome acoustic neuroma acute myeloid leukemia adenocarcinoma adenoma adult hepatocellular carcinoma adult medulloblastoma amyotrophic lateral sclerosis anaplastic astrocytoma angiomatous meningioma arthritis arthropathy autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome benign meningioma bladder carcinoma bone osteosarcoma brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cerebral convexity meningioma cerebral infarction cerebrovascular disease cherubism childhood cerebral astrocytoma childhood hepatocellular carcinoma childhood medulloblastoma childhood osteosarcoma chondrodysplasia-pseudohermaphroditism syndrome clear cell meningioma cleft lip colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma cribriform carcinoma depressive disorder embryoma exostosis familial adenomatous polyposis 1 familial adenomatous polyposis fibrillary astrocytoma fibrous meningioma gemistocytic astrocytoma giant cell glioblastoma glioblastoma granular cell carcinoma hepatocellular carcinoma herpes simplex high grade glioma inflammatory liposarcoma inherited metabolic disorder insulinoma intraorbital meningioma intraventricular meningioma islet cell tumor juvenile pilocytic astrocytoma large intestine cancer liver cancer lung acinar adenocarcinoma lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoplasmacyte-rich meningioma major depressive disorder malignant astrocytoma medulloblastoma medullomyoblastoma melancholic depression melanotic medulloblastoma meningioma meningothelial meningioma microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcystic meningioma monoclonal gammopathy of uncertain significance multiple myeloma neuroblastoma neurotic disorder obesity obsolete melancholia olfactory groove meningioma osteoarthritis osteosarcoma ovarian cancer ovarian carcinoma parasagittal meningioma pilocytic astrocytoma pituitary adenoma progressive muscular atrophy prostate cancer prostate carcinoma protoplasmic astrocytoma psammomatous meningioma sarcomatoid carcinoma sclerosing liposarcoma secretory meningioma spinal meningioma stomach cancer stomach carcinoma subependymal giant cell astrocytoma tarsal-carpal coalition syndrome transitional cell carcinoma transitional meningioma trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tubular adenocarcinoma urinary bladder cancer well-differentiated liposarcoma
Q01459	Di-N-acetylchitobiase	CTBS CTB	Homo sapiens (human)	4	20	Clouston syndrome allergic rhinitis amyotrophic lateral sclerosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis cancer cholera colon cancer colon carcinoma colonic benign neoplasm colorectal cancer hepatocellular carcinoma inflammatory bowel disease 1 inflammatory bowel disease large intestine cancer liver cancer progressive muscular atrophy prostate cancer prostate carcinoma ulcerative colitis vasomotor rhinitis
Q13574	Diacylglycerol kinase zeta	DGKZ DAGK6	Homo sapiens (human)	0	1	Clouston syndrome acute myocardial infarction adenocarcinoma adenoma adult lymphoma aplastic anemia bone osteosarcoma cancer colon cancer colon carcinoma colonic benign neoplasm colorectal cancer coronary thrombosis cribriform carcinoma diabetes mellitus embryoma giant cell glioblastoma glioblastoma granular cell carcinoma high grade glioma large intestine cancer myocardial infarction osteosarcoma pancytopenia prostate cancer prostate carcinoma pure red-cell aplasia schizophrenia silent myocardial infarction tubular adenocarcinoma type 2 diabetes mellitus
P17050	Alpha-N-acetylgalactosaminidase	NAGA	Homo sapiens (human)	5	95	Clouston syndrome Fabry disease Kanzaki disease Schindler disease type 1 Unverricht-Lundborg syndrome acquired hyperkeratosis alternating hemiplegia of childhood autistic disorder autonomic neuropathy blepharospasm cancer cardiomyopathy cataract central nervous system disease central nervous system origin vertigo cerebral degeneration chylomicron retention disease congenital nystagmus dissociated nystagmus early myoclonic encephalopathy elephantiasis embryoma endomyocardial fibrosis epilepsy familial hypertrophic cardiomyopathy focal hand dystonia gallbladder disease hypertrophic cardiomyopathy hypertropia influenza intellectual disability learning disability lipid storage disease liver disease lymphedema mechanical strabismus nervous system disease neuroaxonal dystrophy neurodegeneration with brain iron accumulation 2a neuropathy ophthalmoplegia optic atrophy pathologic nystagmus peripheral nervous system disease sensorineural hearing loss spontaneous ocular nystagmus strabismus syndromic X-linked intellectual disability 94 trichomoniasis visual epilepsy

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