GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

Genes (1582) Glycans (5831) Glycoproteins (18496) Lectins (298) Pathways (2090)

Displaying entries **626 - 650** of **1582** in total

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Gene ID	Gene Name	Gene Symbol	Disease Ontology ▼
8908	glycogenin 2	GYG2 GN-2 glycogenin glucosyltransferase	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
5162	pyruvate dehydrogenase E1 subunit beta	PDHB E1beta PDHE1B	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
26275	3-hydroxyisobutyryl-CoA hydrolase	HIBCH	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
8802	succinate-CoA ligase GDP/ADP-forming subunit alpha	SUCLG1	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
51102	mitochondrial trans-2-enoyl-CoA reductase	MECR CGI-63 ETR1 FASN2B NRBF1 mitochondrial 2-enoyl thioester reductase nuclear receptor binding factor 1	Leber hereditary optic neuropathy with demyelinating disease of CNS Unverricht-Lundborg syndrome blepharospasm blindness cerebral palsy childhood-onset dystonia with optic atrophy and basal ganglia abnormalities choreatic disease colorectal cancer colorectal carcinoma congenital nystagmus disorder of sexual development dissociated nystagmus dystonia early myoclonic encephalopathy focal hand dystonia generalized dystonia hemiplegia hermaphroditism large intestine cancer lingual-facial-buccal dyskinesia optic atrophy pathologic nystagmus pseudohermaphroditism schizophrenia spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spontaneous ocular nystagmus syndromic X-linked intellectual disability type 10
79888	lysophosphatidylcholine acyltransferase 1	LPCAT1 AGPAT10 AGPAT9 FLJ12443 LPLAT8 lysophospholipid acyltransferase 8	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
131	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	ADH7 ADH-4	Leber congenital amaurosis Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease adenocarcinoma adenoma alcohol dependence alcohol use disorder aniridia cancer chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma cone-rod dystrophy cribriform carcinoma embryoma endometrial cancer endometrial carcinoma esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma fundus albipunctatus fundus dystrophy granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma large intestine cancer laryngeal benign neoplasm laryngeal carcinoma larynx cancer lung cancer lung non-small cell carcinoma nicotine dependence nonpapillary renal cell carcinoma papillary renal cell carcinoma pharynx cancer renal carcinoma renal cell carcinoma retinitis pigmentosa sarcomatoid renal cell carcinoma squamous cell carcinoma squamous cell neoplasm stomach cancer stomach carcinoma substance abuse substance-related disorder tongue squamous cell carcinoma tubular adenocarcinoma uterine corpus cancer
3373	hyaluronidase 1	HYAL1 HYAL-1 LUCA1	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
55343	solute carrier family 35 member C1	SLC35C1 FLJ11320 FUCT1 GDP-fucose transporter 1	Laron syndrome achondroplasia anxiety disorder cellulitis congenital disorder of glycosylation type II congenital disorder of glycosylation type IIc echolalia generalized anxiety disorder hepatocellular carcinoma leukocyte adhesion deficiency 2 leukocyte adhesion deficiency liver cancer microcephaly
4247	alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	MGAT2 GNT-II	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
2530	fucosyltransferase 8	FUT8 alpha (1,6) fucosyltransferase	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
5095	propionyl-CoA carboxylase subunit alpha	PCCA	Laron syndrome achondroplasia acute pancreatitis adenocarcinoma adenoma agranulocytosis amino acid metabolic disorder 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
5096	propionyl-CoA carboxylase subunit beta	PCCB	Laron syndrome achondroplasia acute pancreatitis adenocarcinoma adenoma agranulocytosis amino acid metabolic disorder 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
6307	methylsterol monooxygenase 1	MSMO1 DESP4 ERG25	Laron syndrome achondroplasia actinic keratosis blepharitis cancer chondrodysplasia punctata diabetes mellitus embryoma ichthyosis idiopathic scoliosis microcephaly obesity parapsoriasis psoriasis pustulosis of palm and sole seborrheic keratosis skin disease type 2 diabetes mellitus
226	aldolase, fructose-bisphosphate A	ALDOA	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
22856	chondroitin sulfate synthase 1	CHSY1 CSS1 KIAA0990	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
159371	solute carrier family 35 member G1	SLC35G1 C10orf60 FLJ33990 POST partner of STIM1	Laron syndrome Werner syndrome acute myeloid leukemia agnosia arteriosclerotic cardiovascular disease atherosclerosis atopic dermatitis atrial fibrillation autistic disorder breast cancer breast carcinoma cancer colorectal cancer colorectal carcinoma coronary artery disease depressive disorder dermatitis diabetes mellitus diabetic ketoacidosis dysthymic disorder embryoma epilepsy hemolytic-uremic syndrome hepatoblastoma hepatocellular carcinoma hyperglycemia intussusception kidney failure large intestine cancer leukemia major depressive disorder melancholic depression mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis VI mucopolysaccharidosis myotonic disease myotonic dystrophy type 1 myotonic dystrophy type 2 neurotic disorder nutmeg liver obesity obsolete melancholia obsolete type 1 diabetes mellitus 9 occipital horn syndrome polycystic ovary syndrome progeria prostate cancer prostate carcinoma schizophrenia sensorineural hearing loss transient myeloproliferative 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 uremia
6820	sulfotransferase family 2B member 1	SULT2B1 HSST2	Laron syndrome Sjogren-Larsson syndrome achondroplasia acquired hyperkeratosis autosomal recessive congenital ichthyosis 10 autosomal recessive congenital ichthyosis 14 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 bacterial sepsis cholestasis ectropion endometrial cancer endometrial carcinoma gallbladder cancer gallbladder carcinoma granuloma annulare hepatocellular carcinoma hypotrichosis ichthyosis keratosis follicularis kidney failure liver cancer mongolian spot obsolete congenital ichthyosiform erythroderma otitis media prostate cancer prostate carcinoma pseudoxanthoma elasticum uterine corpus cancer
242	arachidonate 12-lipoxygenase, 12R type	ALOX12B 12R-LOX 12R-lipoxygenase	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
204219	ceramide synthase 3	CERS3 MGC27091	Laron syndrome Sjogren-Larsson syndrome Weill-Marchesani syndrome achondroplasia acrodermatitis 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 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 dermatitis ectropion hypohidrosis ichthyosis keratitis keratoconjunctivitis keratosis follicularis mongolian spot nonepidermolytic palmoplantar keratoderma obsolete congenital ichthyosiform erythroderma palmoplantar keratosis pseudoxanthoma elasticum sensorineural hearing loss
2517	alpha-L-fucosidase 1	FUCA1 a-L-fucosidase 1 tissue fucosidase α-L-fucosidase 1	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 diabetes mellitus 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 type 1 diabetes mellitus type 2 diabetes mellitus vascular skin disease visual epilepsy
25839	component of oligomeric golgi complex 4	COG4 COD1 DKFZP586E1519	Laron syndrome Saul-Wilson syndrome X-linked nonsyndromic deafness achondroplasia agnosia agranulocytosis apraxia 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 blood coagulation disease cataract 5 multiple types cataract cerebral degeneration clubfoot cone-rod dystrophy congenital disorder of glycosylation Ii congenital disorder of glycosylation type I congenital disorder of glycosylation type II congenital disorder of glycosylation type IIj congenital nystagmus congenital stationary night blindness 1A congenital stationary night blindness developmental coordination disorder dissociated nystagmus enophthalmos fundus albipunctatus microcephaly neutropenia night blindness obsolete autosomal recessive nonsyndromic deafness 105 obsolete exophthalmos obsolete inherited blood coagulation disease orbital disease pathologic nystagmus placental insufficiency retinitis pigmentosa 3 retinitis pigmentosa sensorineural hearing loss severe congenital neutropenia spontaneous ocular nystagmus thrombocytopenia
2819	glycerol-3-phosphate dehydrogenase 1	GPD1	Laron syndrome Refsum disease Zellweger syndrome achondroplasia breast cancer breast carcinoma cancer central nervous system cancer diabetes mellitus embryoma giant cell glioblastoma glioblastoma gliosarcoma hepatocellular carcinoma high grade glioma infantile Refsum disease inherited metabolic disorder liver cancer liver cirrhosis maturity-onset diabetes of the young mixed glioma obesity obstructive sleep apnea peroxisome biogenesis disorder 1A steatotic liver disease type 2 diabetes mellitus
6389	succinate dehydrogenase complex flavoprotein subunit A	SDHA FP SDHF flavoprotein subunit of complex II succinate dehydrogenase [ubiquinone] flavoprotein subunit	Laron syndrome Leigh disease Parkinson's 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 neurodegenerative disease 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 pituitary adenoma 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
673	B-Raf proto-oncogene, serine/threonine kinase	BRAF	Langerhans-cell histiocytosis Noonan syndrome 7 Noonan syndrome with multiple lentigines 3 bile duct adenoma cancer cardiofaciocutaneous syndrome 1 cardiofaciocutaneous syndrome cardiomyopathy cholangiocarcinoma colon carcinoma colorectal adenocarcinoma colorectal cancer dysembryoplastic neuroepithelial tumor endometrial carcinoma familial melanoma germinoma high grade glioma intrahepatic cholangiocarcinoma lung cancer malignant astrocytoma melanoma pancreatic acinar cell adenocarcinoma pancreatic cancer pleomorphic xanthoastrocytoma prostate adenocarcinoma thyroid gland papillary carcinoma

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