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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 **301 - 325** of **1582** in total

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Gene ID	Gene Name	Gene Symbol	Organism ▲	Disease Ontology
8794	TNF receptor superfamily member 10c	TNFRSF10C Aliases: CD263 DcR1 LIT TRAILR3 TRID	Homo sapiens (human)	Churg-Strauss syndrome Coffin-Siris syndrome 1 Coffin-Siris syndrome Crohn's colitis Crohn's disease Down syndrome Richter's syndrome acute myeloid leukemia acute promyelocytic leukemia adenocarcinoma adenoma adult lymphoma agranulocytosis benign ependymoma benign mesothelioma bladder carcinoma breast cancer breast carcinoma cancer cellular ependymoma central nervous system cancer central nervous system lymphoma cervical adenocarcinoma cervical cancer cervix carcinoma childhood leukemia childhood lymphoma chronic lymphocytic leukemia chronic obstructive pulmonary disease colon cancer congenital heart disease cribriform carcinoma cystadenoma distal arthrogryposis embryoma endometrial cancer endometrial carcinoma essential thrombocythemia familial hypercholesterolemia giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma hepatocellular carcinoma high grade glioma hypereosinophilic syndrome inflammatory bowel disease 1 inflammatory bowel disease intellectual disability juvenile rheumatoid arthritis learning disability leukemia leukopenia liver cancer lung cancer lung non-small cell carcinoma lymphoma malignant mesothelioma melanoma mixed glioma multiple myeloma multiple sclerosis myelodysplastic syndrome myxopapillary ependymoma neuroblastoma neutropenia obsolete ymphosarcoma osteoarthritis ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary ependymoma periodontitis post-traumatic stress disorder prostate cancer prostate carcinoma severe congenital neutropenia skin melanoma systemic lupus erythematosus tanycytic ependymoma tongue squamous cell carcinoma tubular adenocarcinoma ulcerative colitis urinary bladder cancer uterine corpus cancer uveal melanoma
56953	5',3'-nucleotidase, mitochondrial	NT5M Aliases: dNT-2 dNT2 mdN	Homo sapiens (human)	Miller-Dieker lissencephaly syndrome Smith-Magenis syndrome
91373	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	UAP1L1	Homo sapiens (human)	hepatocellular carcinoma liver cancer
79993	ELOVL fatty acid elongase 7	ELOVL7 Aliases: FLJ23563	Homo sapiens (human)	Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease adrenoleukodystrophy cancer hidradenitis suppurativa hidradenitis inflammatory bowel disease multiple system atrophy pompholyx prostate cancer prostate carcinoma
60481	ELOVL fatty acid elongase 5	ELOVL5 Aliases: HELO1 dJ483K16.1	Homo sapiens (human)	acute myocardial infarction autosomal dominant cerebellar ataxia cancer cardiac arrest cerebellar ataxia cerebellar disease colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma congenital nystagmus coronary thrombosis depressive disorder diabetes mellitus diabetic ketoacidosis dissociated nystagmus embryoma glaucoma glomerulonephritis hyperglycemia kidney disease large intestine cancer low tension glaucoma major depressive disorder melancholic depression myocardial infarction nephritis nephrosis obesity obsolete melancholia pathologic nystagmus primary open angle glaucoma prostate cancer prostate carcinoma pyoureter retinitis pigmentosa 25 schizophrenia silent myocardial infarction spinocerebellar ataxia type 1 spinocerebellar ataxia type 2 spinocerebellar ataxia type 38 spinocerebellar ataxia type 5 spinocerebellar ataxia type 6 spinocerebellar ataxia type 7 spontaneous ocular nystagmus steatotic liver disease type 2 diabetes mellitus
3897	L1 cell adhesion molecule	L1CAM Aliases: CAML1 CD171 NCAM-L1 neural cell adhesion molecule L1	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 Charcot-Marie-Tooth disease type 5 Henoch-Schoenlein purpura Hirschsprung's disease Kallmann syndrome Laron syndrome MASA syndrome Mast syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Rett syndrome Reye syndrome SPOAN syndrome Sheehan syndrome Troyer syndrome X-linked dominant hypophosphatemic rickets achondroplasia acne acute chest syndrome adenomatoid tumor adrenal gland cancer adrenoleukodystrophy alternating hemiplegia of childhood anxiety disorder aphasia atrophic gastritis autism spectrum disorder autistic disorder autonomic neuropathy benign ependymoma benign intermediate mesothelioma benign mesothelioma bile duct adenocarcinoma bile duct carcinoma bipolar disorder bone osteosarcoma brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma celiac disease cellular ependymoma central nervous system cancer central nervous system disease cerebral degeneration cervical adenocarcinoma cervical cancer cervix carcinoma childhood ependymoma cholangiocarcinoma chromophobe renal cell carcinoma clear cell renal cell carcinoma clubfoot collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma communicating hydrocephalus congenital hypothyroidism congenital nystagmus craniosynostosis depressive disorder diabetes mellitus differentiated thyroid gland carcinoma dissociated nystagmus duodenum cancer embryoma endometrial adenocarcinoma endometrial cancer endometrial carcinoma epilepsy esophagus squamous cell carcinoma familial retinoblastoma fibromyalgia gastrointestinal stromal tumor giant cell glioblastoma glioblastoma gliosarcoma glucose intolerance heart cancer hepatocellular carcinoma hereditary spastic paraplegia 10 hereditary spastic paraplegia 11 hereditary spastic paraplegia 12 hereditary spastic paraplegia 13 hereditary spastic paraplegia 14 hereditary spastic paraplegia 15 hereditary spastic paraplegia 16 hereditary spastic paraplegia 17 hereditary spastic paraplegia 18 hereditary spastic paraplegia 19 hereditary spastic paraplegia 23 hereditary spastic paraplegia 24 hereditary spastic paraplegia 25 hereditary spastic paraplegia 26 hereditary spastic paraplegia 27 hereditary spastic paraplegia 28 hereditary spastic paraplegia 29 hereditary spastic paraplegia 2 hereditary spastic paraplegia 30 hereditary spastic paraplegia 31 hereditary spastic paraplegia 32 hereditary spastic paraplegia 34 hereditary spastic paraplegia 35 hereditary spastic paraplegia 36 hereditary spastic paraplegia 37 hereditary spastic paraplegia 38 hereditary spastic paraplegia 39 hereditary spastic paraplegia 3A hereditary spastic paraplegia 41 hereditary spastic paraplegia 42 hereditary spastic paraplegia 43 hereditary spastic paraplegia 44 hereditary spastic paraplegia 45 hereditary spastic paraplegia 46 hereditary spastic paraplegia 48 hereditary spastic paraplegia 49 hereditary spastic paraplegia 4 hereditary spastic paraplegia 53 hereditary spastic paraplegia 54 hereditary spastic paraplegia 55 hereditary spastic paraplegia 56 hereditary spastic paraplegia 57 hereditary spastic paraplegia 5A hereditary spastic paraplegia 61 hereditary spastic paraplegia 62 hereditary spastic paraplegia 63 hereditary spastic paraplegia 64 hereditary spastic paraplegia 6 hereditary spastic paraplegia 72A hereditary spastic paraplegia 73 hereditary spastic paraplegia 75 hereditary spastic paraplegia 77 hereditary spastic paraplegia 7 hereditary spastic paraplegia 8 hereditary spastic paraplegia 9A hereditary spastic paraplegia 9B hereditary spastic paraplegia high grade glioma holoprosencephaly 1 holoprosencephaly hydrocephalus hypersensitivity vasculitis hypertropia hypogonadotropic hypogonadism 1 with or without anosmia hypogonadotropic hypogonadism 10 with or without anosmia hypogonadotropic hypogonadism 11 with or without anosmia hypogonadotropic hypogonadism 12 with or without anosmia hypogonadotropic hypogonadism 13 with or without anosmia hypogonadotropic hypogonadism 14 with or without anosmia hypogonadotropic hypogonadism 16 with or without anosmia hypogonadotropic hypogonadism 17 with or without anosmia hypogonadotropic hypogonadism 18 with or without anosmia hypogonadotropic hypogonadism 19 with or without anosmia hypogonadotropic hypogonadism 2 with or without anosmia hypogonadotropic hypogonadism 20 with or without anosmia hypogonadotropic hypogonadism 21 with or without anosmia hypogonadotropic hypogonadism 22 with or without anosmia hypogonadotropic hypogonadism 3 with or without anosmia hypogonadotropic hypogonadism 4 with or without anosmia hypogonadotropic hypogonadism 5 with or without anosmia hypogonadotropic hypogonadism 6 with or without anosmia hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic hypogonadism 8 with or without anosmia hypogonadotropic hypogonadism 9 with or without anosmia hypogonadotropic hypogonadism hypopituitarism hypothalamic disease hypothyroidism idiopathic interstitial pneumonia idiopathic pulmonary fibrosis inflammatory bowel disease intellectual disability intracranial hypertension intrahepatic cholangiocarcinoma isolated growth hormone deficiency type IA isolated growth hormone deficiency type IB isolated growth hormone deficiency type II isolated growth hormone deficiency type III isolated growth hormone deficiency kidney cancer large intestine cancer learning disability liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung small cell carcinoma major depressive disorder malignant mesothelioma malignant pleural mesothelioma mechanical strabismus melanoma microcephaly microinvasive gastric cancer microphthalmia mixed glioma mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis VI mucopolysaccharidosis myxedema myxopapillary ependymoma nephrogenic diabetes insipidus nervous system disease neuroblastoma neurotic disorder nonpapillary renal cell carcinoma obsolete Matthew-Wood syndrome obsolete intestinal pseudo-obstruction obstructive hydrocephalus ophthalmoplegia osteosarcoma ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma pancreatic ductal carcinoma panhypopituitarism papillary adenocarcinoma papillary ependymoma papillary renal cell carcinoma paralytic ileus paraplegia parathyroid gland disease pathologic nystagmus pheochromocytoma phobic disorder prediabetes syndrome primary biliary cholangitis prostate cancer prostate carcinoma pseudotumor cerebri renal carcinoma renal cell carcinoma restless legs syndrome retinoblastoma rickets sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia seminoma senile degeneration of brain skin melanoma small intestine cancer spontaneous ocular nystagmus squamous cell carcinoma stomach cancer stomach carcinoma strabismus syndromic X-linked intellectual disability 94 systemic lupus erythematosus tanycytic ependymoma testicular cancer testis seminoma thymus gland disease thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma transitional cell carcinoma trilateral retinoblastoma type 2 diabetes mellitus uterine cancer uterine carcinosarcoma uterine corpus cancer
51005	amidohydrolase domain containing 2	AMDHD2 Aliases: CGI-14 N-acetylglucosamine-6-phosphate deacetylase	Homo sapiens (human)	colorectal cancer colorectal carcinoma large intestine cancer
125981	alkaline ceramidase 1	ACER1	Homo sapiens (human)	alopecia
2571	glutamate decarboxylase 1	GAD1	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 Down syndrome Graves' disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Raynaud disease Reye syndrome Stiff-Person syndrome Sveinsson chorioretinal atrophy Wernicke-Korsakoff syndrome acquired immunodeficiency syndrome acute lymphoblastic leukemia adamantinous craniopharyngioma adult acute lymphocytic leukemia adult respiratory distress syndrome agoraphobia alcohol dependence alcohol use disorder alternating hemiplegia of childhood amnestic disorder amphetamine abuse androgen insensitivity syndrome anthracosilicosis antisocial personality disorder anxiety disorder arteriosclerotic cardiovascular disease asbestosis atherosclerosis atrophic gastritis attention deficit hyperactivity disorder autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome autoimmune thyroiditis autonomic neuropathy basal ganglia disease bipolar disorder borderline personality disorder bronchus cancer bronchus carcinoma cancer cardiovascular system disease celiac disease central nervous system cancer central nervous system disease cerebellar ataxia cerebellar disease cerebral degeneration cerebral palsy childhood acute lymphocytic leukemia chromophobe renal cell carcinoma chronic kidney disease chronic obstructive pulmonary disease clear cell renal cell carcinoma cleft lip cleft palate cocaine abuse cocaine dependence collecting duct carcinoma colorectal cancer complex partial epilepsy congenital nystagmus congestive heart failure coronary artery disease craniopharyngioma delusional disorder depressive disorder developmental and epileptic encephalopathy 89 diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy disease of mental health dissociated nystagmus dissociative amnesia drug psychosis dysthymic disorder dystonia embryoma encephalitis encephalomyelitis endocrine system disease epilepsy focal epilepsy focal hand dystonia gastric adenocarcinoma generalized anxiety disorder generalized dystonia gestational diabetes gliosarcoma glomerulonephritis glucose intolerance glutaric acidemia I goiter heart disease hemiplegia hemophilia B heroin dependence herpes simplex high grade glioma human immunodeficiency virus infectious disease hyperglycemia hyperlysinemia hyperprolactinemia hyperthyroidism hypochondriasis immune system disease influenza insulinoma intellectual disability intermittent explosive disorder isolated cleft palate kidney disease learning disability lingual-facial-buccal dyskinesia locked-in syndrome lung adenocarcinoma lung cancer lung carcinoma major depressive disorder maturity-onset diabetes of the young melancholic depression microcephaly microphthalmia middle cerebral artery infarction migraine mixed glioma mood disorder morphine dependence multiple sclerosis myelitis nephritis nephrosis nervous system disease neuroblastoma 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 neuropathy neurotic disorder newborn respiratory distress syndrome nonpapillary renal cell carcinoma obsolete Matthew-Wood syndrome obsolete constipation obsolete major affective disorder 1 obsolete major affective disorder 2 obsolete melancholia obsolete type 1 diabetes mellitus 9 obstructive sleep apnea opiate dependence pancreatic cancer pancreatic carcinoma panic disorder papillary craniopharyngioma papillary renal cell carcinoma partial motor epilepsy pathologic nystagmus periodontitis peripheral nervous system disease personality disorder phobic disorder pityriasis rubra pilaris pneumoconiosis pneumocystosis polyneuropathy post-traumatic stress disorder prediabetes syndrome primary cerebellar degeneration progressive multifocal leukoencephalopathy prostate adenocarcinoma prostate cancer prostate carcinoma psychotic disorder pyoureter quadriplegia renal carcinoma renal cell carcinoma retrograde amnesia sarcomatoid renal cell carcinoma schizoaffective disorder schizophrenia schizophreniform disorder scoliosis seasonal affective disorder sickle cell anemia siderosis social phobia spastic cerebral palsy spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spontaneous ocular nystagmus stereotypic movement disorder substance abuse substance-related disorder temporal lobe epilepsy thyroid gland disease thyrotoxicosis transient cerebral ischemia trypanosomiasis 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 visual epilepsy withdrawal disorder
5232	phosphoglycerate kinase 2	PGK2 Aliases: PGK-2 PGKPS phosphoglycerate kinase, testis specific	Homo sapiens (human)	Parkinson's disease azoospermia cancer cryptorchidism
8972	maltase-glucoamylase	MGAM Aliases: MGA alpha-glucosidase	Homo sapiens (human)	Duchenne muscular dystrophy Fabry disease Gaucher's disease Gerstmann-Straussler-Scheinker syndrome Gorham's disease Japanese encephalitis adenocarcinoma adenoma amyotrophic lateral sclerosis arteriosclerotic cardiovascular disease atherosclerosis 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 brachydactyly type C brachydactyly breast cancer breast carcinoma cancer cardiomyopathy cardiovascular system disease chylomicron retention disease congenital disorder of glycosylation congenital muscular dystrophy coronary artery disease cribriform carcinoma cystic fibrosis cystinuria dengue disease depressive disorder diabetes mellitus diabetic ketoacidosis dilated cardiomyopathy 1A dilated cardiomyopathy distal myopathy embryoma endomyocardial fibrosis facioscapulohumeral muscular dystrophy familial hypertrophic cardiomyopathy familial periodic paralysis galactosemia glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease granular cell carcinoma heart disease hyperglycemia hypertrophic cardiomyopathy hypoglycemia limb-girdle muscular dystrophy lipid storage disease lysosomal storage disease major depressive disorder melancholic depression muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myotonic dystrophy type 1 myotonic dystrophy type 2 neuromuscular disease nutmeg liver obesity obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obsolete constipation obsolete melancholia oculopharyngeal muscular dystrophy progressive muscular atrophy prolactinoma punctate palmoplantar keratoderma type III rippling muscle disease 2 squamous cell carcinoma tongue squamous cell carcinoma tubular adenocarcinoma type 2 diabetes mellitus viral infectious disease yellow fever
29925	GDP-mannose pyrophosphorylase B	GMPPB Aliases: KIAA1851 mannose-1-phosphate guanyltransferase beta	Homo sapiens (human)	Bell's palsy Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Lambert-Eaton myasthenic syndrome Walker-Warburg syndrome agnosia amblyopia 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 cardiomyopathy cataract centronuclear myopathy cleft palate clubfoot coloboma communicating hydrocephalus cone-rod dystrophy congenital muscular dystrophy-dystroglycanopathy A14 congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy congenital myasthenic syndrome congenital nystagmus congenital ptosis congenital structural myopathy cryptorchidism developmental coordination disorder dissociated nystagmus distal myopathy endomyocardial fibrosis epilepsy esotropia facial nerve disease facial paralysis facioscapulohumeral muscular dystrophy familial periodic paralysis fundus albipunctatus glaucoma holoprosencephaly 1 holoprosencephaly hydrocephalus hypertrophic cardiomyopathy hypertropia idiopathic generalized epilepsy intellectual disability isolated cleft palate isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy mechanical strabismus megalocornea meningocele microcephaly microphthalmia monocular esotropia muscular dystrophy-dystroglycanopathy type B14 muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia 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 pathologic nystagmus ptosis retinal detachment retinitis pigmentosa rippling muscle disease 2 scoliosis senile degeneration of brain sensorineural hearing loss speech disorder spontaneous ocular nystagmus strabismic amblyopia strabismus syndromic X-linked intellectual disability 94 visual epilepsy
5507	protein phosphatase 1 regulatory subunit 3C	PPP1R3C Aliases: PTG Phosphatase 1, regulatory inhibitor subunit 5 protein targeting to glycogen	Homo sapiens (human)	alcohol use disorder antithrombin III deficiency breast cancer cancer colorectal cancer colorectal carcinoma depressive disorder diabetes mellitus dysthymic disorder embryoma head and neck cancer hepatocellular carcinoma large intestine cancer liver cancer major depressive disorder melancholic depression neurotic disorder obsolete melancholia post-traumatic stress disorder protein C deficiency protein S deficiency steatotic liver disease thrombophilia type 2 diabetes mellitus
27430	methionine adenosyltransferase 2 non-catalytic beta subunit	MAT2B	Homo sapiens (human)
8277	transketolase like 1	TKTL1 Aliases: TKR TKT2	Homo sapiens (human)	Aicardi-Goutieres syndrome Crouzon syndrome adenocarcinoma adenoma arthritis arthropathy breast cancer breast carcinoma cancer carcinoma central nervous system cancer central nervous system lymphoma cerebral palsy cervical adenocarcinoma cervical cancer cervix carcinoma chronic myeloid leukemia cleft palate colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma cribriform carcinoma diabetes mellitus diabetic ketoacidosis differentiated thyroid gland carcinoma embryoma embryonal cancer endometrial stromal sarcoma esophagus squamous cell carcinoma gastrointestinal stromal tumor germ cell and embryonal cancer germ cell cancer germinoma giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma granulosa cell tumor head and neck squamous cell carcinoma hemiplegia hepatitis B hepatocellular carcinoma high grade glioma isolated cleft palate large intestine cancer leiomyoma liver cancer lymphoma melanoma mixed glioma morbid obesity mucinous adenocarcinoma myofibroma nasopharynx carcinoma obesity obsolete ymphosarcoma osteoarthritis papillary adenocarcinoma papillary renal cell carcinoma prostate cancer prostate carcinoma rectal benign neoplasm rectum adenocarcinoma rectum cancer sarcomatoid carcinoma seminoma skin melanoma spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy squamous cell carcinoma stomach cancer stomach carcinoma testicular cancer testicular germ cell cancer thrombophilia thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma tubular adenocarcinoma type 2 diabetes mellitus uterine fibroid
644974	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like 2	ALG1L2	Homo sapiens (human)	congenital disorder of glycosylation Ik congenital disorder of glycosylation type I congenital disorder of glycosylation
220074	leucine rich transmembrane and O-methyltransferase domain containing	LRTOMT	Homo sapiens (human)	X-linked nonsyndromic deafness 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 obsolete autosomal recessive nonsyndromic deafness 105 sensorineural hearing loss
80055	post-GPI attachment to proteins inositol deacylase 1	PGAP1 Aliases: Bst1 FLJ12377 GPI inositol-deacylase SPG67	Homo sapiens (human)	Burkitt lymphoma Laron syndrome achondroplasia agnosia autosomal recessive intellectual developmental disorder brain disease cerebral degeneration choreatic disease congenital disorder of glycosylation depressive disorder developmental coordination disorder dysthymic disorder dystonia epilepsy factor XII deficiency focal epilepsy fundus dystrophy holoprosencephaly 1 holoprosencephaly intellectual disability learning disability lingual-facial-buccal dyskinesia major depressive disorder melancholic depression microcephaly neurotic disorder obsolete infantile epileptic encephalopathy obsolete melancholia paroxysmal nocturnal hemoglobinuria partial motor epilepsy stereotypic movement disorder syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability type 10 visual epilepsy
2171	fatty acid binding protein 5	FABP5	Homo sapiens (human)	prostate cancer psoriasis
27329	angiopoietin like 3	ANGPTL3	Homo sapiens (human)	alcohol use disorder familial hypobetalipoproteinemia 2
340075	arylsulfatase family member I	ARSI Aliases: FLJ16069 SPG66	Homo sapiens (human)	Lynch syndrome abdominal aortic aneurysm anxiety disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis autistic disorder breast cancer breast carcinoma cancer cardiovascular system disease clubfoot cone-rod dystrophy coronary artery disease depressive disorder dysthymic disorder eye disease fundus albipunctatus generalized anxiety disorder heart disease intellectual disability learning disability lysosomal storage disease major depressive disorder melancholic depression neurotic disorder obsolete melancholia panic disorder phobic disorder post-traumatic stress disorder retinitis pigmentosa stomach cancer stomach carcinoma
5730	prostaglandin D2 synthase	PTGDS Aliases: L-PGDS PGDS lipocalin-type prostaglandin D synthase	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 Axenfeld-Rieger syndrome Crohn's colitis Crohn's disease Fabry disease Graves' disease Guillain-Barre syndrome Loeffler syndrome Marfan syndrome Meckel syndrome 1 Meckel syndrome Parkinson's disease Pendred Syndrome Pick's disease Reye syndrome Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 acoustic neuroma acrodermatitis acute myocardial infarction acute promyelocytic leukemia adult lymphoma adult medulloblastoma allergic asthma alopecia anaplastic astrocytoma androgenic alopecia angiomatous meningioma aplastic anemia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis atopic dermatitis attention deficit hyperactivity disorder autoimmune thyroiditis benign meningioma bipolar disorder brain cancer breast cancer breast carcinoma bronchiolitis bronchitis cancer carcinoma cardiovascular system disease carotid artery disease central nervous system lymphoma cerebral convexity meningioma cerebral degeneration cerebrotendinous xanthomatosis childhood cerebral astrocytoma childhood lymphoma childhood medulloblastoma cholestasis chronic ethmoiditis chronic fatigue syndrome chronic kidney disease chronic obstructive pulmonary disease chronic sphenoidal sinusitis chylomicron retention disease clear cell meningioma colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma coronary artery disease coronary thrombosis craniosynostosis cryptorchidism depressive disorder dermatitis diabetes mellitus diabetic ketoacidosis differentiated thyroid gland carcinoma disease of mental health dry eye syndrome dyshormonogenic goiter dysthymic disorder egg allergy embryoma encephalitis encephalomyelitis enterocele eosinophilic pneumonia essential hypertension fibrillary astrocytoma fibrous meningioma gastritis gastroenteritis gemistocytic astrocytoma giant cell glioblastoma glioblastoma glomerulonephritis goiter heart disease high grade glioma hypereosinophilic syndrome hyperglycemia hyperinsulinism hypertension hyperthyroidism hypertrichosis ileitis ileocolitis inflammatory bowel disease 1 inflammatory bowel disease intestinal benign neoplasm intestinal cancer intraorbital meningioma intraventricular meningioma intrinsic asthma juvenile pilocytic astrocytoma kidney disease large congenital melanocytic nevus large intestine cancer late onset Parkinson's disease lipid storage disease liver cirrhosis lung benign neoplasm lupus nephritis lymphoma lymphoplasmacyte-rich meningioma major depressive disorder malignant astrocytoma medulloblastoma medullomyoblastoma melancholic depression melanoma melanotic medulloblastoma meningioma meningothelial meningioma microcystic meningioma myelitis myocardial infarction nephritis nephrosclerosis nephrosis neurofibromatosis neurotic disorder nontoxic goiter nutmeg liver obesity obsolete dyspepsia obsolete melancholia obsolete ymphosarcoma obstructive sleep apnea olfactory groove meningioma open-angle glaucoma osteoarthritis ovarian cancer ovarian carcinoma pancytopenia papillary adenocarcinoma papillary renal cell carcinoma parasagittal meningioma periodontitis pigment dispersion syndrome pilocytic astrocytoma pituitary adenoma pneumonia post-traumatic stress disorder pre-eclampsia prostate cancer prostate carcinoma protoplasmic astrocytoma psammomatous meningioma psychotic disorder pyoureter respiratory syncytial virus infectious disease rhinitis sarcomatoid carcinoma schizophrenia secretory meningioma sensorineural hearing loss silent myocardial infarction sinusitis situs inversus skin melanoma skin squamous cell carcinoma spinal meningioma squamous cell carcinoma stomach cancer stomach carcinoma stuttering subependymal giant cell astrocytoma systemic lupus erythematosus thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland disease thyroid gland papillary carcinoma thyrotoxicosis tongue squamous cell carcinoma transitional meningioma tuberous sclerosis type 2 diabetes mellitus ulcerative colitis ureteral obstruction vestibular schwannomatosis xerophthalmia
22796	component of oligomeric golgi complex 2	COG2	Homo sapiens (human)	atrial fibrillation cardiovascular system disease congenital disorder of glycosylation type IIq congenital disorder of glycosylation coronary artery disease diabetes mellitus epilepsy familial hypercholesterolemia heart disease hypobetalipoproteinemia locked-in syndrome obsolete constipation quadriplegia rheumatoid arthritis stomach cancer stomach carcinoma type 2 diabetes mellitus visual epilepsy
8821	inositol polyphosphate-4-phosphatase type II B	INPP4B	Homo sapiens (human)	Goodpasture syndrome Takayasu's arteritis acute monocytic leukemia acute myeloid leukemia adenocarcinoma adenoma adult lymphoma amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 6 benign breast phyllodes tumor bladder carcinoma bone osteosarcoma breast adenocarcinoma breast cancer breast carcinoma breast fibroadenosis breast fibrocystic disease breast malignant phyllodes tumor bronchus cancer bronchus carcinoma cancer carcinoma central nervous system lymphoma cervical adenocarcinoma cervical cancer cervix carcinoma childhood leukemia childhood lymphoma childhood osteosarcoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma cribriform carcinoma embryoma goiter granular cell carcinoma granulomatosis with polyangiitis hepatocellular carcinoma inflammatory breast carcinoma large intestine cancer laryngeal benign neoplasm laryngeal carcinoma larynx cancer leukemia liver cancer lung benign neoplasm lung cancer lung carcinoma lung squamous cell carcinoma lymphoma melanoma microglandular adenosis multiple sclerosis nasopharynx carcinoma nonpapillary renal cell carcinoma obsolete ymphosarcoma osteoporosis osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary renal cell carcinoma polyarteritis nodosa prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma skin melanoma thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland disease thyroid gland papillary carcinoma tubular adenocarcinoma urinary bladder cancer
339221	ectonucleotide pyrophosphatase/phosphodiesterase 7	ENPP7 Aliases: NPP7 alk-SMase alkaline sphingomyelinase	Homo sapiens (human)	adenocarcinoma adenoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis cancer colon cancer colon carcinoma colonic benign neoplasm colorectal cancer coronary artery disease cystic fibrosis familial adenomatous polyposis 1 familial adenomatous polyposis follicular adenoma islet cell tumor large intestine cancer microcystic adenoma papillary adenoma

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