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GlyCosmos Genes

Integrated list of glycan-related genes extracted KEGG GENES Database, UniProt, GlycoGene Database (GGDB), Plant GARDEN and FlyGlycoDB. Glycan-related genes including glycosyltransferase, hydrolase activity (acting on glycosyl bonds), carbohydrate metabolic process, etc .

Source	Last Updated
FlyGlycoDB	March 25, 2024
GlycoGene Database (GGDB)	January 26, 2018
KEGG GENES Database	September 20, 2023
Plant GARDEN	May 28, 2020
UniProt	July 8, 2024

Selecting the function you want to look up from the categories displays a list narrowed down to glycan-related genes with that function (Gene Ontology).

Catalytic activity

glycosyltransferase activity

hydrolase activity, acting on glycosyl bonds

Binding

carbohydrate binding

Response to carbohydrate

Primary metabolic process

Displaying entries **251 - 275** of **1582** in total

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Gene ID	Gene Name	Gene Symbol	Organism ▲	Disease Ontology
9394	heparan sulfate 6-O-sulfotransferase 1	HS6ST1	Homo sapiens (human)	Kallmann syndrome Potter's syndrome Sheehan syndrome achromatopsia acquired color blindness anxiety disorder bilateral renal aplasia blindness blue color blindness cartilage-hair hypoplasia clubfoot color blindness congenital nystagmus congenital ptosis cryptorchidism depressive disorder diabetes mellitus diabetic ketoacidosis dissociated nystagmus dysthymic disorder epilepsy eunuchism generalized anxiety disorder gynecomastia hypertrophy of breast hypogonadism hypogonadotropic hypogonadism 1 with or without anosmia hypogonadotropic hypogonadism 10 with or without anosmia hypogonadotropic hypogonadism 11 with or without anosmia hypogonadotropic hypogonadism 12 with or without anosmia hypogonadotropic hypogonadism 13 with or without anosmia hypogonadotropic hypogonadism 14 with or without anosmia hypogonadotropic hypogonadism 15 with or without anosmia hypogonadotropic hypogonadism 16 with or without anosmia hypogonadotropic hypogonadism 17 with or without anosmia hypogonadotropic hypogonadism 18 with or without anosmia hypogonadotropic hypogonadism 19 with or without anosmia hypogonadotropic hypogonadism 2 with or without anosmia hypogonadotropic hypogonadism 20 with or without anosmia hypogonadotropic hypogonadism 21 with or without anosmia hypogonadotropic hypogonadism 22 with or without anosmia hypogonadotropic hypogonadism 3 with or without anosmia hypogonadotropic hypogonadism 4 with or without anosmia hypogonadotropic hypogonadism 5 with or without anosmia hypogonadotropic hypogonadism 6 with or without anosmia hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic hypogonadism 8 with or without anosmia hypogonadotropic hypogonadism 9 with or without anosmia hypogonadotropic hypogonadism hypopituitarism ichthyosis idiopathic interstitial pneumonia idiopathic pulmonary fibrosis impotence infant gynecomastia isolated growth hormone deficiency type IA isolated growth hormone deficiency type IB isolated growth hormone deficiency type II isolated growth hormone deficiency type III isolated growth hormone deficiency major depressive disorder melancholic depression mucopolysaccharidosis IV multiple epiphyseal dysplasia neurotic disorder obesity obsolete melancholia osteochondrodysplasia osteoporosis panhypopituitarism paraplegia pathologic nystagmus premature ejaculation psychologic dyspareunia ptosis red color blindness red-green color blindness schizophrenia sensorineural hearing loss septooptic dysplasia spontaneous ocular nystagmus type 2 diabetes mellitus visual epilepsy
9108	myotubularin related protein 7	MTMR7	Homo sapiens (human)	Charcot-Marie-Tooth disease Creutzfeldt-Jakob disease cancer centronuclear myopathy X-linked centronuclear myopathy colorectal cancer colorectal carcinoma embryoma large intestine cancer
64080	ribokinase	RBKS Aliases: DKFZp686G13268 RBSK	Homo sapiens (human)	bipolar disorder schizophrenia tuberculosis
144245	ALG10 alpha-1,2-glucosyltransferase B	ALG10B Aliases: KCR1 dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase potassium channel regulator 1	Homo sapiens (human)	long QT syndrome 2 long QT syndrome nonsyndromic deafness sick sinus syndrome
8694	diacylglycerol O-acyltransferase 1	DGAT1 Aliases: ARGP1	Homo sapiens (human)	Chanarin-Dorfman syndrome alopecia amyotrophic lateral sclerosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis autosomal recessive congenital ichthyosis 1 cancer cardiomyopathy celiac disease chronic fatigue syndrome chronic kidney disease chylomicron retention disease congenital diarrhea 5 with tufting enteropathy congenital diarrhea 6 congenital diarrhea 7 with exudative enteropathy congenital malabsorptive diarrhea 4 congenital secretory sodium diarrhea 3 congenital secretory sodium diarrhea 8 congestive heart failure coronary artery disease diabetes mellitus diabetic ketoacidosis diarrhea disease of metabolism encephalitis encephalomyelitis familial hyperlipidemia familial lipoprotein lipase deficiency familial nephrotic syndrome familial periodic paralysis gastrointestinal system disease gestational diabetes glucose intolerance hepatitis C hyperlipoproteinemia type V ichthyosis intestinal disease keratosis follicularis kwashiorkor leech infestation lipid metabolism disorder lipoid nephrosis lupus erythematosus marasmus mastitis microvillus inclusion disease mongolian spot myelitis myiasis myopathy nephrotic syndrome nutrition disease obesity obsolete congenital ichthyosiform erythroderma phototoxic dermatitis prediabetes syndrome progressive muscular atrophy prostate cancer prostate carcinoma protein-energy malnutrition protein-losing enteropathy pseudoxanthoma elasticum steatotic liver disease systemic lupus erythematosus toxoplasmosis tropical sprue type 2 diabetes mellitus
9963	solute carrier family 23 member 1	SLC23A1	Homo sapiens (human)
5330	phospholipase C beta 2	PLCB2 Aliases: FLJ38135	Homo sapiens (human)	acute myocardial infarction adenocarcinoma adenoma breast cancer breast carcinoma cancer congenital heart disease coronary thrombosis cribriform carcinoma embryoma granular cell carcinoma hepatocellular carcinoma invasive ductal carcinoma liver cancer melanoma myocardial infarction obesity silent myocardial infarction skin melanoma tubular adenocarcinoma viral infectious disease
1559	cytochrome P450 family 2 subfamily C member 9	CYP2C9 Aliases: P450IIC9	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell lymphoma Balo concentric sclerosis Behcet's disease Budd-Chiari syndrome Graves' disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Kawasaki disease Langerhans-cell histiocytosis Laron syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Richter's syndrome Schwartz-Jampel syndrome 1 Stevens-Johnson syndrome achondroplasia acoustic neuroma acute kidney failure acute myocardial infarction adenocarcinoma adenoma adrenoleukodystrophy agnosia agranulocytosis alternating hemiplegia of childhood ankylosing spondylitis antithrombin III deficiency arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis atrial fibrillation autoimmune hepatitis autonomic neuropathy brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cannabis abuse cannabis dependence cardiomyopathy cardiovascular system disease central nervous system cancer central nervous system disease cerebral degeneration cerebral infarction cerebrovascular disease cholestasis chronic kidney disease chronic lymphocytic leukemia colorectal cancer colorectal carcinoma coronary artery disease coronary thrombosis depressive disorder diabetes mellitus diabetic ketoacidosis diaphragm disease diarrhea disease of metabolism duodenum disease dysthymic disorder eclampsia embryoma endomyocardial fibrosis epilepsy esophageal cancer esophageal carcinoma esophageal disease esophagus squamous cell carcinoma essential hypertension essential tremor exanthem eye disease familial hyperlipidemia follicular adenoma gallbladder disease gastric ulcer gastritis gingival hypertrophy gingival overgrowth gliosarcoma glomerulonephritis head and neck cancer head and neck squamous cell carcinoma heart disease hepatitis A hepatitis C hepatitis hepatocellular carcinoma high grade glioma hyperglycemia hypertension hyperthyroidism hypertrophic cardiomyopathy hypoglycemia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis inflammatory bowel disease 1 inflammatory bowel disease interstitial nephritis kidney disease kidney failure kwashiorkor large intestine cancer leukopenia liver cancer liver carcinoma liver disease lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lymphoma major depressive disorder marasmus melancholic depression meningioma microcystic adenoma mixed glioma multiple epiphyseal dysplasia multiple myeloma multiple sclerosis myocardial infarction narcolepsy nephritis nephrosis nervous system disease neurotic disorder neutropenia non-Hodgkin lymphoma nutmeg liver nutrition disease obesity obsolete melancholia obsolete ymphosarcoma osteochondrodysplasia papillary adenoma patent ductus arteriosus peptic ulcer disease pituitary adenoma primary pulmonary hypertension protein C deficiency protein S deficiency protein-energy malnutrition pyelitis pyelonephritis pyoureter rabies renal infectious disease reticulosarcoma retinal disease retinitis schizophrenia scleroderma severe congenital neutropenia silent myocardial infarction stomach disease substance abuse substance-related disorder sudden infant death syndrome systemic scleroderma thrombophilia thyrotoxicosis tuberculosis type 2 diabetes mellitus ulcerative colitis urea cycle disorder urinary bladder cancer vascular disease vasculitis vitamin K deficiency bleeding warfarin resistance
1576	cytochrome P450 family 3 subfamily A member 4	CYP3A4	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Balo concentric sclerosis Crohn's colitis Crohn's disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Leber congenital amaurosis 1 Pick's disease Reye syndrome Stevens-Johnson syndrome T-cell acute lymphoblastic leukemia abdominal obesity-metabolic syndrome 1 acquired immunodeficiency syndrome acute biphenotypic leukemia acute chest syndrome acute leukemia acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute myocardial infarction adrenal gland hyperfunction adrenoleukodystrophy adult acute lymphocytic leukemia agnosia alcohol use disorder allergic asthma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis atrial fibrillation atrophic gastritis attention deficit hyperactivity disorder autoimmune hepatitis beta thalassemia biliary tract disease bladder carcinoma bone marrow cancer bone osteosarcoma brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cartilage-hair hypoplasia central nervous system disease central nervous system lymphoma cerebral artery occlusion cerebral degeneration cerebral infarction cerebral palsy cerebrotendinous xanthomatosis cerebrovascular disease childhood acute lymphocytic leukemia cholestasis chronic kidney disease chronic myeloid leukemia colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congestive heart failure coronary artery disease coronary thrombosis cystic fibrosis depressive disorder diabetes mellitus diabetic ketoacidosis diarrhea dysthymic disorder embryoma endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis epilepsy esophagus squamous cell carcinoma essential hypertension familial adenomatous polyposis familial mediterranean fever familial nephrotic syndrome familial periodic paralysis gallbladder disease gastrointestinal system cancer gynecomastia hemiplegia hepatitis B hepatitis C hepatitis hepatoblastoma hepatocellular carcinoma human immunodeficiency virus infectious disease hypertension hypertrophy of breast infant gynecomastia inflammatory bowel disease 1 inflammatory bowel disease intrinsic asthma islet cell tumor isolated growth hormone deficiency kidney cancer kidney failure large intestine cancer laryngeal squamous cell carcinoma leukopenia lingual-facial-buccal dyskinesia lipoid nephrosis liver cancer liver cirrhosis liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma major depressive disorder malaria melancholic depression multiple myeloma multiple sclerosis myeloproliferative neoplasm myocardial infarction myopathy narcolepsy nephrosclerosis nephrotic syndrome nervous system disease neuroblastoma neuropathy neurotic disorder nodular prostate obesity obsolete Cushing's syndrome obsolete melancholia obsolete ymphosarcoma obstructive jaundice osteomalacia osteoporosis osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma parapsoriasis peripheral T-cell lymphoma peripheral nervous system disease primary biliary cholangitis primary hyperaldosteronism prostate cancer prostate carcinoma prostatic adenoma psoriasis pustulosis of palm and sole rabies renal hypertension rheumatoid arthritis rickets sarcoma schizophrenia secondary hyperparathyroidism silent myocardial infarction spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy steatotic liver disease stomach cancer stomach carcinoma thalassemia thrombocytopenia thyroid adenoma thyroid cancer thyroid gland carcinoma tuberculosis type 2 diabetes mellitus ulcerative colitis uremia urinary bladder cancer uterine corpus cancer visual epilepsy
55808	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	ST6GALNAC1 Aliases: ST6GalNAcI	Homo sapiens (human)	acute myocardial infarction bladder carcinoma breast cancer cancer colon cancer colon carcinoma colonic benign neoplasm colorectal cancer coronary thrombosis embryoma endometrial cancer endometrial carcinoma esophagus squamous cell carcinoma inflammatory bowel disease 1 inflammatory bowel disease large intestine cancer myocardial infarction ovarian cancer ovarian carcinoma schizophrenia silent myocardial infarction stomach cancer stomach carcinoma ulcerative colitis urinary bladder cancer uterine corpus cancer
1109	aldo-keto reductase family 1 member C4	AKR1C4 Aliases: 3-alpha hydroxysteroid dehydrogenase, type I 3-alpha-HSD C11 CDR DD4 HAKRA MGC22581 chlordecone reductase dihydrodiol dehydrogenase 4	Homo sapiens (human)	46,XY sex reversal 8 46,XY sex reversal Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 3 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Baraitser-Winter syndrome Fraser syndrome Goldenhar syndrome Marfan syndrome Moebius syndrome Muenke Syndrome Nance-Horan syndrome Pick's disease Reye syndrome Richter's syndrome Sakati-Nyhan syndrome Smith-McCort dysplasia Warburg micro syndrome 1 Warburg micro syndrome 2 Warburg micro syndrome 3 Warburg micro syndrome 4 Weissenbacher-Zweymuller syndrome acute myeloid leukemia alcohol dependence alcohol use disorder alopecia amyloidosis androgenic alopecia anemia angle-closure glaucoma bacterial infectious disease bipolar disorder bladder carcinoma branchiootic syndrome breast cancer breast carcinoma cancer cerebral degeneration chikungunya childhood leukemia chronic closed-angle glaucoma chronic lymphocytic leukemia cryptorchidism delusional disorder dementia dengue hemorrhagic fever depressive disorder disorder of sexual development dysthymic disorder embryoma essential hypertension essential thrombocythemia follicular lymphoma glaucoma hepatocellular carcinoma hermaphroditism hypertension hypogonadotropic hypogonadism 23 with or without anosmia influenza leukemia liver cancer liver carcinoma lupus erythematosus macrocytic anemia major depressive disorder melancholic depression myelofibrosis neurotic disorder obsolete melancholia orofaciodigital syndrome I orofaciodigital syndrome X osteoporosis paranoid schizophrenia plasmacytoma polycythemia vera polycythemia primary angle-closure glaucoma primary ciliary dyskinesia 1 primary ciliary dyskinesia pseudohermaphroditism secondary Parkinson disease situs inversus systemic lupus erythematosus tuberous sclerosis urinary bladder cancer viral infectious disease
50487	phospholipase A2 group III	PLA2G3 Aliases: GIII-SPLA2	Homo sapiens (human)	acute myocardial infarction cancer colon cancer colon carcinoma colonic benign neoplasm colorectal cancer coronary thrombosis embryoma large intestine cancer myocardial infarction silent myocardial infarction
10682	EBP cholestenol delta-isomerase	EBP Aliases: 3-beta-hydroxysteroid-delta-8,delta-7-isomerase CHO2 CPX CPXD Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome) sterol 8-isomerase	Homo sapiens (human)	Alzheimer's disease Balo concentric sclerosis Dandy-Walker syndrome Klinefelter syndrome Klippel-Feil syndrome Krabbe disease Laron syndrome MEND syndrome Marfan syndrome Patau syndrome Peters anomaly Sjogren-Larsson syndrome X-linked chondrodysplasia punctata 1 X-linked chondrodysplasia punctata 2 X-linked cleft palate with or without ankyloglossia achondroplasia actinic keratosis acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute promyelocytic leukemia adrenoleukodystrophy adult fibrosarcoma allergic asthma alopecia ankyloglossia aortic valve disease 2 aortic valve stenosis arteriosclerotic cardiovascular disease asthma atherosclerosis atypical chronic myeloid leukemia, BCR-ABL1 negative autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome autosomal dominant chondrodysplasia punctata autosomal recessive congenital ichthyosis 1 autosomal recessive congenital ichthyosis bladder carcinoma brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cartilage-hair hypoplasia cataract central nervous system cancer central nervous system disease cerebral artery occlusion cerebral infarction cerebrovascular disease childhood acute myeloid leukemia childhood leukemia chondrodysplasia punctata choriocarcinoma chromophobe renal cell carcinoma chronic monocytic leukemia chronic myeloid leukemia clear cell renal cell carcinoma cleft palate clubfoot collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma communicating hydrocephalus congenital heart disease congenital nystagmus congenital ptosis congestive heart failure cornea plana coronary artery disease cryptorchidism cystic fibrosis dementia diabetes mellitus dissociated nystagmus embryoma epilepsy essential hypertension essential thrombocythemia familial retinoblastoma fibrosarcoma gastrointestinal system cancer giant cell glioblastoma glaucoma glioblastoma gliosarcoma granuloma annulare hematologic cancer hemophilia B hepatitis B hepatitis C hepatocellular carcinoma high grade glioma hydrocephalus hydronephrosis hyperostosis hypertension ichthyosis intellectual disability intrinsic asthma isolated cleft palate keratosis follicularis kidney failure large intestine cancer laryngeal disease learning disability leiomyoma leukemia liver cancer lung benign neoplasm lung cancer lung carcinoma lymphoblastic lymphoma lymphoid leukemia lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 melanoma microphthalmia mixed glioma mixed-type liposarcoma mongolian spot mucopolysaccharidosis IV multicentric Castleman disease multiple epiphyseal dysplasia myelodysplastic syndrome myeloid leukemia myofibroma myxoid liposarcoma narcolepsy nervous system disease neuroblastoma nonpapillary renal cell carcinoma nutmeg liver obesity obsolete congenital ichthyosiform erythroderma obstructive hydrocephalus optic atrophy osteochondrodysplasia osteomyelitis papillary adenocarcinoma papillary renal cell carcinoma papilloma pathologic nystagmus placenta cancer polydactyly polyhydramnios pseudoxanthoma elasticum ptosis renal carcinoma renal cell carcinoma retinoblastoma rheumatoid arthritis rhizomelic chondrodysplasia punctata type 1 rhizomelic chondrodysplasia punctata type 2 rhizomelic chondrodysplasia punctata type 3 sarcomatoid renal cell carcinoma schizophrenia scoliosis seborrheic keratosis senile degeneration of brain sensorineural hearing loss situs inversus skin disease skin melanoma spondylolisthesis spontaneous ocular nystagmus squamous cell carcinoma squamous cell papilloma steatotic liver disease stomach cancer stomach carcinoma systemic Epstein-Barr virus positive T-cell lymphoma of childhood thyroid gland papillary carcinoma tongue squamous cell carcinoma tracheal calcification tracheal disease tracheal stenosis trilateral retinoblastoma tuberous sclerosis type 2 diabetes mellitus urinary bladder cancer uterine fibroid visual epilepsy
124	alcohol dehydrogenase 1A (class I), alpha polypeptide	ADH1A	Homo sapiens (human)	alcohol dependence alcohol use disorder alcoholic hepatitis alcoholic liver cirrhosis anaplastic astrocytoma arteriosclerotic cardiovascular disease atherosclerosis autoimmune polyendocrine syndrome type 1 autoimmune polyendocrine syndrome autosomal dominant hypocalcemia 1 autosomal dominant hypocalcemia autosomal recessive hypercholesterolemia brain cancer cancer candidiasis childhood cerebral astrocytoma cholestasis coronary artery disease embryoma esophagus squamous cell carcinoma familial hypercholesterolemia fibrillary astrocytoma gallbladder disease gemistocytic astrocytoma hepatitis C hepatocellular carcinoma high grade glioma hypercalcemia hypoparathyroidism immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome juvenile pilocytic astrocytoma liver cancer liver cirrhosis liver disease lung cancer lung non-small cell carcinoma malignant astrocytoma nephrocalcinosis neuroblastoma oral candidiasis ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pharynx cancer phosphorus metabolism disease pilocytic astrocytoma protoplasmic astrocytoma pseudohypoparathyroidism steatotic liver disease stomach cancer stomach carcinoma subependymal giant cell astrocytoma substance abuse substance-related disorder
10585	protein O-mannosyltransferase 1	POMT1 Aliases: LGMD2K dolichyl-phosphate-mannose-protein mannosyltransferase	Homo sapiens (human)	Axenfeld-Rieger syndrome Bell's palsy Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Marfan syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome agnosia autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy bilateral optic nerve hypoplasia blindness brain cancer brain disease buphthalmos campomelic dysplasia cardiomyopathy cataract centronuclear myopathy cleft lip cleft palate clubfoot coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 cone-rod dystrophy congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy 1B congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy due to integrin alpha-7 deficiency congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy congenital myopathy 1A congenital myopathy 4A congenital structural myopathy cornea plana cortical dysplasia-focal epilepsy syndrome craniometaphyseal dysplasia cryptorchidism developmental coordination disorder distal myopathy endomyocardial fibrosis epilepsy facial nerve disease facial paralysis facioscapulohumeral muscular dystrophy familial periodic paralysis fibromyalgia fundus albipunctatus fundus dystrophy glaucoma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hydrophthalmos hypertrophic cardiomyopathy hypertropia imperforate anus intellectual disability isolated cleft palate isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lissencephaly locked-in syndrome mechanical strabismus megaconial type congenital muscular dystrophy megalocornea meningocele microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy-dystroglycanopathy muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia myositis nemaline myopathy neuromuscular disease obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obstructive hydrocephalus oculopharyngeal muscular dystrophy oligohydramnios ophthalmoplegia optic atrophy peripheral retinal degeneration placental insufficiency pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 quadriplegia recurrent corneal erosion renal agenesis retinal detachment retinitis pigmentosa rigid spine muscular dystrophy 1 rippling muscle disease 2 scoliosis senile degeneration of brain sensorineural hearing loss septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly situs inversus speech disorder strabismus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type tuberous sclerosis visual epilepsy
7957	EPM2A glucan phosphatase, laforin	EPM2A Aliases: LD LDE	Homo sapiens (human)	Alzheimer's disease Balo concentric sclerosis Dravet syndrome Lafora disease MERRF syndrome Rett syndrome Unverricht-Lundborg syndrome adrenoleukodystrophy adult lymphoma agnosia alexia apraxia benign epilepsy with centrotemporal spikes blepharospasm blindness cancer central nervous system disease central nervous system lymphoma cerebral degeneration childhood lymphoma cystinuria dementia dentatorubral-pallidoluysian atrophy depressive disorder dyslexia dysthymic disorder early myoclonic encephalopathy embryoma endometrial carcinoma epilepsy focal hand dystonia 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 intellectual disability learning disability lymphoma major depressive disorder melancholic depression narcolepsy neurodegenerative disease neuronal ceroid lipofuscinosis 10 neuronal ceroid lipofuscinosis 11 neuronal ceroid lipofuscinosis 13 neuronal ceroid lipofuscinosis 1 neuronal ceroid lipofuscinosis 2 neuronal ceroid lipofuscinosis 3 neuronal ceroid lipofuscinosis 4 neuronal ceroid lipofuscinosis 5 neuronal ceroid lipofuscinosis 6A neuronal ceroid lipofuscinosis 6B neuronal ceroid lipofuscinosis 7 neuronal ceroid lipofuscinosis 8 northern epilepsy variant neuronal ceroid lipofuscinosis 8 neuronal ceroid lipofuscinosis 9 neuronal ceroid lipofuscinosis neurotic disorder non-syndromic X-linked intellectual disability obsolete Dravet syndrome obsolete infantile epileptic encephalopathy obsolete melancholia obsolete ymphosarcoma photosensitive epilepsy photosensitivity disease progressive myoclonus epilepsy 1A progressive myoclonus epilepsy 4 progressive myoclonus epilepsy psychotic disorder schizoaffective disorder schizophrenia schizophreniform disorder status epilepticus
2673	glutamine--fructose-6-phosphate transaminase 1	GFPT1 Aliases: GFA GFAT GFAT1	Homo sapiens (human)	Bell's palsy Laron syndrome Machado-Joseph disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Zollinger-Ellison syndrome achondroplasia agnosia brain cancer breast cancer breast carcinoma cancer centronuclear myopathy clubfoot congenital myasthenic syndrome 12 congenital myasthenic syndrome 4C congenital myasthenic syndrome congenital ptosis congenital structural myopathy developmental coordination disorder diabetes mellitus diabetic ketoacidosis embryoma facial nerve disease facial paralysis familial hyperlipidemia familial periodic paralysis giant cell glioblastoma glioblastoma glomerulonephritis hepatitis B hepatocellular carcinoma high grade glioma hyperglycemia hyperinsulinism hypertropia isolated elevated serum creatine phosphokinase levels kidney disease liver cancer mechanical strabismus myopathy nasopharynx carcinoma nephritis nephrosis neuromuscular disease neuromuscular junction disease obesity ophthalmoplegia pancreatic cancer pancreatic carcinoma ptosis pyoureter scoliosis stomach cancer stomach carcinoma strabismus tubular aggregate myopathy 1 type 2 diabetes mellitus
94101	ORMDL sphingolipid biosynthesis regulator 1	ORMDL1	Homo sapiens (human)	allergic asthma asthma intrinsic asthma
51363	carbohydrate sulfotransferase 15	CHST15 Aliases: B cell RAG associated protein BRAG GALNAC4S-6ST KIAA0598 N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase	Homo sapiens (human)	Crohn's colitis Crohn's disease adult astrocytic tumor anaplastic astrocytoma breast cancer breast carcinoma cancer childhood astrocytic tumor childhood cerebral astrocytoma colitis embryoma endometrial cancer endometrial carcinoma esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma fibrillary astrocytoma gastroenteritis gemistocytic astrocytoma giant cell glioblastoma glioblastoma high grade glioma idiopathic interstitial pneumonia ileitis ileocolitis inflammatory bowel disease 1 inflammatory bowel disease juvenile pilocytic astrocytoma lung benign neoplasm malignant astrocytoma microphthalmia obsolete Matthew-Wood syndrome ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma patent ductus arteriosus pilocytic astrocytoma postinflammatory pulmonary fibrosis protoplasmic astrocytoma pulmonary fibrosis subependymal giant cell astrocytoma ulcerative colitis uterine corpus cancer
2348	folate receptor alpha	FOLR1 Aliases: FRα	Homo sapiens (human)	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 cerebral folate receptor alpha deficiency 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
80201	hexokinase domain containing 1	HKDC1 Aliases: FLJ22761 FLJ37767	Homo sapiens (human)	breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer colorectal cancer colorectal carcinoma cone-rod dystrophy corneal disease embryoma fundus albipunctatus gestational diabetes glucose metabolism disease hepatitis hyperglycemia hyperinsulinemic hypoglycemia keratoconus large intestine cancer late-onset retinal degeneration lung benign neoplasm lung cancer lung carcinoma maturity-onset diabetes of the young retinitis pigmentosa steatotic liver disease
9957	heparan sulfate-glucosamine 3-sulfotransferase 1	HS3ST1 Aliases: 3OST1	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Pick's disease Reye syndrome arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis cancer cerebral degeneration chondrosarcoma coronary artery disease embryoma herpes simplex
572	BCL2 associated agonist of cell death	BAD	Homo sapiens (human)	Alzheimer's disease Parkinsonism acute kidney failure brain ischemia breast cancer colon cancer diabetic neuropathy endometrial cancer gastric ulcer glaucoma high grade glioma hypertension hypothyroidism impotence intermittent claudication lung non-small cell carcinoma macular degeneration middle cerebral artery infarction obesity osteoarthritis pancreatic cancer prostate carcinoma prostatic hypertrophy pulmonary fibrosis renal cell carcinoma traumatic brain injury type 2 diabetes mellitus visual epilepsy
3292	hydroxysteroid 17-beta dehydrogenase 1	HSD17B1 Aliases: Estradiol 17-beta-dehydrogenase-1 HSD17 MGC138140 SDR28C1 short chain dehydrogenase/reductase family 28CE, member 1	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Pick's disease Reye syndrome Sertoli-Leydig cell tumor T-cell acute lymphoblastic leukemia adenocarcinoma adenoma breast cancer breast carcinoma breast disease breast fibrocystic disease bronchus cancer bronchus carcinoma cancer cerebral degeneration cholera choriocarcinoma colorectal cancer colorectal carcinoma congenital adrenal hyperplasia cribriform carcinoma cystic kidney disease embryoma endometrial adenocarcinoma endometrial cancer endometrial carcinoma endometriosis of ovary endometriosis of uterus endometriosis follicular adenoma granular cell carcinoma hepatocellular carcinoma hereditary breast ovarian cancer syndrome infertility invasive ductal carcinoma lactocele large intestine cancer leiomyoma liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lysosomal storage disease male breast cancer microcystic adenoma microglandular adenosis myofibroma nodular prostate non-congenital cyst of kidney obesity osteoporosis ovarian cancer ovarian carcinoma papillary adenoma placenta cancer placental insufficiency polycystic ovary syndrome prostate cancer prostate carcinoma prostatic adenoma sporadic breast cancer squamous cell carcinoma stomach cancer stomach carcinoma tongue squamous cell carcinoma tubular adenocarcinoma uterine corpus cancer uterine disease uterine fibroid
8705	beta-1,3-galactosyltransferase 4	B3GALT4 Aliases: GalT4 beta3Gal-T4 ganglioside galactosyltransferase	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Ehlers-Danlos syndrome Parkinson's disease Pick's disease Reye syndrome breast cancer cerebral degeneration colorectal cancer colorectal carcinoma large intestine cancer late onset Parkinson's disease osteogenesis imperfecta

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