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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 **926 - 950** of **1582** in total

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Gene ID	Gene Name	Gene Symbol	Organism	Disease Ontology ▲
8513	lipase F, gastric type	LIPF Aliases: HGL HLAL gastric triacylglycerol lipase	Homo sapiens (human)	Wolman disease lipid storage disease lysosomal acid lipase deficiency stomach cancer stomach carcinoma
4041	LDL receptor related protein 5	LRP5	Homo sapiens (human)	Worth syndrome autosomal dominant osteopetrosis 1 autosomal dominant polycystic kidney disease exudative vitreoretinopathy 4 exudative vitreoretinopathy heart valve disease idiopathic juvenile osteoporosis microphthalmia neovascular inflammatory vitreoretinopathy nonsyndromic deafness osteonecrosis osteoporosis-pseudoglioma syndrome osteoporosis polycystic liver disease tendinitis
64386	matrix metallopeptidase 25	MMP25 Aliases: MT6-MMP	Homo sapiens (human)	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 acoustic neuroma acute pericementitis adult fibrosarcoma aggressive periodontitis amelogenesis imperfecta hypomaturation type 2A2 amelogenesis imperfecta hypomaturation type 2A3 amelogenesis imperfecta hypomaturation type 2A4 amelogenesis imperfecta hypomaturation type 2A5 amelogenesis imperfecta type 1A amelogenesis imperfecta type 1B amelogenesis imperfecta type 1C amelogenesis imperfecta type 1E amelogenesis imperfecta type 1F amelogenesis imperfecta type 1G amelogenesis imperfecta type 1H amelogenesis imperfecta type 2A1 amelogenesis imperfecta type 3A amelogenesis imperfecta type 4 amelogenesis imperfecta anaplastic astrocytoma angiomatous meningioma arthritis arthropathy benign meningioma brain cancer breast cancer breast carcinoma cancer carcinoma cerebral convexity meningioma childhood cerebral astrocytoma clear cell meningioma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer dental fluorosis dentin dysplasia dentinogenesis imperfecta embryoma fibrillary astrocytoma fibrosarcoma fibrous meningioma gemistocytic astrocytoma giant cell glioblastoma glioblastoma in situ carcinoma intraorbital meningioma intraventricular meningioma juvenile pilocytic astrocytoma large intestine cancer laryngeal squamous cell carcinoma malignant astrocytoma melanoma meningioma meningothelial meningioma microcystic meningioma multiple myeloma multiple sclerosis olfactory groove meningioma osteoarthritis parasagittal meningioma periodontosis pilocytic astrocytoma pituitary adenoma protoplasmic astrocytoma psammomatous meningioma rheumatoid arthritis sarcomatoid carcinoma secretory meningioma skin melanoma spinal meningioma stomach cancer stomach carcinoma subependymal giant cell astrocytoma transitional meningioma
3033	hydroxyacyl-CoA dehydrogenase	HADH Aliases: HADH1 SCHAD	Homo sapiens (human)	X-linked dilated cardiomyopathy Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 acute myocardial infarction adrenoleukodystrophy agnosia cancer cardiomyopathy cone-rod dystrophy congestive heart failure coronary thrombosis developmental coordination disorder diabetes mellitus diarrhea 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 disease of metabolism embryoma endomyocardial fibrosis familial hyperinsulinemic hypoglycemia 1 familial hyperinsulinemic hypoglycemia 2 familial hyperinsulinemic hypoglycemia 4 familial hypertrophic cardiomyopathy fundus albipunctatus gallbladder disease hepatitis hyperinsulinemic hypoglycemia hyperinsulinism hypertrophic cardiomyopathy hypoglycemia hypoglycemic coma intellectual disability lactic acidosis laryngeal benign neoplasm laryngeal carcinoma larynx cancer learning disability liver disease maple syrup urine disease mitochondrial trifunctional protein deficiency myocardial infarction myoglobinuria neuropathy obesity peripheral nervous system disease peroxisomal disease placental insufficiency retinitis pigmentosa silent myocardial infarction steatotic liver disease type 2 diabetes mellitus urea cycle disorder
340990	otogelin	OTOG Aliases: FLJ46346 OTGN mlemp	Homo sapiens (human)	X-linked nonsyndromic deafness allergic asthma amyotrophic lateral sclerosis type 1 asthma 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 intrinsic asthma obsolete autosomal recessive nonsyndromic deafness 105 sensorineural hearing loss
146183	otoancorin	OTOA Aliases: CT108 cancer/testis antigen 108	Homo sapiens (human)	X-linked nonsyndromic deafness alpha 1-antitrypsin deficiency 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 complement component 2 deficiency congenital adrenal hyperplasia cytochrome-c oxidase deficiency disease obsolete autosomal recessive nonsyndromic deafness 105 sensorineural hearing loss von Willebrand's disease 2 von Willebrand's disease
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
8309	acyl-CoA oxidase 2	ACOX2 Aliases: 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase BRCACOX BRCOX THCCox branched chain acyl-CoA oxidase trihydroxycoprostanoyl-CoA oxidase	Homo sapiens (human)	Zellweger syndrome breast cancer breast carcinoma cardiovascular system disease congenital bile acid synthesis defect 6 heart disease hepatoblastoma hepatocellular carcinoma liver cancer obsolete steatorrhea peroxisome biogenesis disorder 1A
64761	poly(ADP-ribose) polymerase family member 12	PARP12 Aliases: ARTD12 FLJ22693 PARP-12 ZC3H1	Homo sapiens (human)	Zika fever age related macular degeneration cancer coronary artery disease degeneration of macula and posterior pole hepatocellular carcinoma influenza liver cancer macular degeneration viral infectious disease vitiligo
57818	glucose-6-phosphatase catalytic subunit 2	G6PC2 Aliases: IGRP islet specific glucose 6 phosphatase catalytic subunit related protein	Homo sapiens (human)	Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 breast cancer breast carcinoma cystinuria diabetes mellitus diabetic ketoacidosis galactosemia gestational diabetes glucose intolerance 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 hyperglycemia hyperinsulinism insulinoma obsolete type 1 diabetes mellitus 9 prediabetes 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
729238	surfactant protein A2	SFTPA2 Aliases: COLEC5 SP-A2 surfactant, pulmonary-associated protein A2A	Homo sapiens (human)	Zollinger-Ellison syndrome acute interstitial pneumonia adenocarcinoma adenoid hypertrophy adenoma adult respiratory distress syndrome allergic asthma allergic bronchopulmonary aspergillosis allergic rhinitis ankylosing spondylitis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis bacterial pneumonia bacterial sepsis bronchiectasis bronchiolo-alveolar adenocarcinoma bronchus cancer bronchus carcinoma cancer cardiovascular system disease cataract 32 multiple types chronic obstructive pulmonary disease communicating hydrocephalus congenital diaphragmatic hernia congenital heart disease corneal ulcer coronary artery disease craniosynostosis cribriform carcinoma cystic fibrosis embryoma esophagitis gastroesophageal reflux disease granular cell carcinoma heart disease hydrocephalus hypereosinophilic syndrome hyperinsulinism idiopathic interstitial pneumonia idiopathic pulmonary fibrosis interstitial lung disease interstitial nephritis intrinsic asthma lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung small cell carcinoma lymphangioleiomyomatosis newborn respiratory distress syndrome obesity obstructive hydrocephalus obstructive lung disease otitis media peptic esophagitis pneumocystosis pneumonia postinflammatory pulmonary fibrosis primary pulmonary hypertension prostate cancer prostate carcinoma psoriatic arthritis pulmonary fibrosis pulmonary tuberculosis pulmonary valve insufficiency pyelitis pyelonephritis respiratory failure respiratory syncytial virus infectious disease rheumatoid arthritis secondary hypertrophic osteoarthropathy senile degeneration of brain spondyloarthropathy spondylosis squamous cell carcinoma tongue squamous cell carcinoma tuberculosis tuberculous pneumothorax tubular adenocarcinoma urinary tract obstruction vasomotor rhinitis
138050	heparan-alpha-glucosaminide N-acetyltransferase	HGSNAT Aliases: FLJ32731 HGNAT	Homo sapiens (human)	Zollinger-Ellison syndrome agnosia amnestic disorder blindness bulimia nervosa cataract cone-rod dystrophy congenital nystagmus congenital stationary night blindness 1A congenital stationary night blindness corneal disease developmental coordination disorder diabetes mellitus diarrhea dissociated nystagmus echolalia enterocele epilepsy fundus albipunctatus fundus dystrophy glaucoma hyperinsulinism hypertrichosis hypertrophic cardiomyopathy 1 hypogonadism intellectual disability keratoconus learning disability mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIB mucopolysaccharidosis type IIIC mucopolysaccharidosis type IIID mucopolysaccharidosis night blindness obesity obsolete asthenopia ophthalmoplegia optic atrophy pathologic nystagmus peripheral retinal degeneration retinitis pigmentosa 73 retinitis pigmentosa retrograde amnesia scoliosis sensorineural hearing loss spontaneous ocular nystagmus stereotypic movement disorder type 2 diabetes mellitus visual epilepsy
3419	isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha	IDH3A Aliases: H-IDH alpha NAD(H)-specific isocitrate dehydrogenase alpha subunit NAD+-specific ICDH isocitrate dehydrogenase (NAD+) alpha chain isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial isocitric dehydrogenase	Homo sapiens (human)	Zollinger-Ellison syndrome alternating hemiplegia of childhood arthritis arthropathy autonomic neuropathy bipolar disorder blindness brain disease cancer cataract central nervous system disease cone-rod dystrophy congenital nystagmus corneal disease diabetes mellitus dissociated nystagmus early infantile epileptic encephalopathy fundus albipunctatus glaucoma hyperinsulinism hypogonadism intellectual disability keratoconus learning disability lung adenocarcinoma lung cancer nervous system disease neuromuscular junction disease obesity obsolete asthenopia ophthalmoplegia optic atrophy osteoarthritis pathologic nystagmus primary open angle glaucoma retinitis pigmentosa 90 retinitis pigmentosa sensorineural hearing loss spontaneous ocular nystagmus type 2 diabetes mellitus
3420	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta	IDH3B Aliases: RP46	Homo sapiens (human)	Zollinger-Ellison syndrome bipolar disorder blindness cataract cone-rod dystrophy congenital nystagmus corneal disease diabetes mellitus dissociated nystagmus early infantile epileptic encephalopathy eye disease fundus albipunctatus fundus dystrophy glaucoma hidradenitis suppurativa hidradenitis hyperinsulinism hypogonadism intellectual disability keratoconus learning disability obesity obsolete asthenopia ophthalmoplegia optic atrophy pathologic nystagmus pompholyx retinitis pigmentosa 46 retinitis pigmentosa sensorineural hearing loss spontaneous ocular nystagmus stomach cancer stomach carcinoma type 2 diabetes mellitus
5207	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	PFKFB1	Homo sapiens (human)	Zollinger-Ellison syndrome cancer hyperinsulinism stomach cancer
8434	reversion inducing cysteine rich protein with kazal motifs	RECK Aliases: hRECK	Homo sapiens (human)	abdominal aortic aneurysm acute interstitial pneumonia adenocarcinoma adenoid cystic carcinoma adenoma adenosarcoma adult respiratory distress syndrome ameloblastoma anaplastic astrocytoma arthritis arthropathy atrial fibrillation bile duct adenocarcinoma bile duct carcinoma bladder carcinoma bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma central nervous system cancer cervical adenocarcinoma cervical cancer cervix carcinoma cervix disease childhood cerebral astrocytoma childhood osteosarcoma cholangiocarcinoma chorioamnionitis chronic obstructive pulmonary disease cocaine abuse cocaine dependence colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma complement deficiency cribriform carcinoma cutaneous fibrous histiocytoma cystic fibrosis distal arthrogryposis dysplastic nevus syndrome embryoma epilepsy epithelioid malignant peripheral nerve sheath tumor esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma fibrillary astrocytoma fibrosarcoma gemistocytic astrocytoma giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma hematologic cancer hepatitis C hepatocellular carcinoma hidradenoma high grade glioma idiopathic interstitial pneumonia intrahepatic cholangiocarcinoma juvenile pilocytic astrocytoma large intestine cancer leiomyoma liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma malignant astrocytoma malignant peripheral nerve sheath tumor melanoma mixed glioma multiple myeloma myofibroma nasopharyngitis nasopharynx carcinoma necrotizing fasciitis nephroblastoma neurilemmoma neuroblastoma neurofibrosarcoma nodular prostate osteoarthritis osteosarcoma pancreatic cancer pancreatic ductal adenocarcinoma papillary adenocarcinoma papillary renal cell carcinoma patent ductus arteriosus periodontal disease periodontitis pilocytic astrocytoma prostate cancer prostate carcinoma prostatic adenoma protoplasmic astrocytoma rheumatoid arthritis salivary gland adenoid cystic carcinoma sarcoidosis sarcomatoid carcinoma skin melanoma skin papilloma skin tag squamous cell carcinoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma syringoma systemic lupus erythematosus thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma transitional cell carcinoma tubular adenocarcinoma urinary bladder cancer uterine fibroid uveoparotid fever viral infectious disease
6715	steroid 5 alpha-reductase 1	SRD5A1 Aliases: 3-oxo-5-alpha-steroid 4-dehydrogenase 1	Homo sapiens (human)	abdominal aortic aneurysm alcohol dependence alcohol use disorder alopecia androgenic alopecia anxiety disorder bipolar disorder breast cancer breast carcinoma cancer central nervous system cancer congenital hypothyroidism depressive disorder diabetes mellitus dysthymic disorder embryoma endometriosis of ovary endometriosis of uterus endometriosis generalized anxiety disorder gliosarcoma high grade glioma hyperprolactinemia hypospadias hypothyroidism intermittent claudication major depressive disorder melancholic depression mixed glioma myxedema neurotic disorder nodular prostate obesity obsolete melancholia panic disorder peripheral artery disease peripheral vascular disease phobic disorder polycystic ovary syndrome primary cutaneous amyloidosis prostate cancer prostate carcinoma prostatic adenoma prostatic hypertrophy type 2 diabetes mellitus
6518	solute carrier family 2 member 5	SLC2A5	Homo sapiens (human)	abdominal obesity-metabolic syndrome 1 acute myeloid leukemia breast cancer breast carcinoma cancer central nervous system cancer childhood B-cell acute lymphoblastic leukemia chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer diabetes mellitus disease of metabolism embryoma essential hypertension gliosarcoma hepatocellular carcinoma high grade glioma hypertension idiopathic interstitial pneumonia idiopathic pulmonary fibrosis inflammatory bowel disease intestinal atresia large intestine cancer liver cancer long QT syndrome lung adenocarcinoma lung benign neoplasm lung cancer lung non-small cell carcinoma mixed glioma neuroblastoma nonpapillary renal cell carcinoma obesity ovarian cancer ovarian carcinoma papillary renal cell carcinoma prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma seminoma testicular cancer testicular germ cell cancer testis seminoma tropical sprue type 2 diabetes mellitus
3957	galectin 2	LGALS2 Aliases: HL14	Homo sapiens (human)	abdominal obesity-metabolic syndrome 1 acute myocardial infarction amyotrophic lateral sclerosis angiostrongyliasis arteriosclerotic cardiovascular disease atherosclerosis cancer cardiovascular system disease cerebral infarction cerebral malaria cerebrovascular disease colitis coronary artery disease coronary thrombosis diabetes mellitus diabetic ketoacidosis essential hypertension filariasis gastroenteritis heart disease hypertension ileitis ileocolitis inflammatory bowel disease myocardial infarction nutmeg liver perinatal necrotizing enterocolitis placental insufficiency progressive muscular atrophy rheumatoid arthritis silent myocardial infarction stomach cancer stomach carcinoma
2180	acyl-CoA synthetase long chain family member 1	ACSL1 Aliases: ACS1 FACL1 LACS LACS1 LACS2 lignoceroyl-CoA synthase long-chain fatty-acid-coenzyme A ligase 1	Homo sapiens (human)	abdominal obesity-metabolic syndrome 1 acute myocardial infarction arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis bacterial sepsis breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiomyopathy central nervous system cancer cervix uteri carcinoma in situ chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma coronary artery disease coronary thrombosis diabetes mellitus diabetic autonomic neuropathy diabetic ketoacidosis diabetic neuropathy diabetic polyneuropathy endomyocardial fibrosis gliosarcoma glomerulonephritis glucose metabolism disease hepatocellular carcinoma high grade glioma hypertrophic cardiomyopathy inflammatory bowel disease kidney disease large intestine cancer liver cancer liver carcinoma lung benign neoplasm lung cancer lung carcinoma mixed glioma myocardial infarction nephritis nephrosis nonpapillary renal cell carcinoma obesity obsolete type 1 diabetes mellitus 9 papillary renal cell carcinoma pyoureter renal carcinoma renal cell carcinoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma silent myocardial infarction steatotic liver disease type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus vascular disease
79143	membrane bound O-acyltransferase domain containing 7	MBOAT7 Aliases: BB1 LPIAT1 LPLAT LPLAT11 hMBOA-7 lysophosphatidylinositol acyltransferase lysophosphatidylinositol acyltransferase 1 lysophospholipid acyltransferase 11 lysophospholipid acyltransferase 7	Homo sapiens (human)	abdominal obesity-metabolic syndrome 1 adrenoleukodystrophy agnosia alcoholic hepatitis alcoholic liver cirrhosis attention deficit hyperactivity disorder autism spectrum disorder autistic disorder autosomal recessive intellectual developmental disorder 57 cardiovascular system disease cerebral degeneration choreatic disease chronic kidney disease communicating hydrocephalus depressive disorder developmental coordination disorder diabetes mellitus diabetic ketoacidosis dysthymic disorder dystonia epilepsy focal epilepsy gallbladder disease heart disease hepatitis B hepatitis C hepatitis hepatocellular carcinoma hydrocephalus intellectual disability learning disability lingual-facial-buccal dyskinesia liver cancer liver cirrhosis liver disease major depressive disorder melancholic depression microcephaly neurotic disorder obesity obsolete infantile epileptic encephalopathy obsolete melancholia obstructive hydrocephalus partial motor epilepsy senile degeneration of brain steatotic liver disease stereotypic movement disorder stomach cancer stomach carcinoma syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability type 10 type 2 diabetes mellitus visual epilepsy
81035	collectin subfamily member 12	COLEC12 Aliases: CL-P1 SCARA4 SRCL	Homo sapiens (human)	abdominal obesity-metabolic syndrome 1 arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis diabetes mellitus familial periodic paralysis multiple sclerosis myopathy substance abuse substance-related disorder type 2 diabetes mellitus
5106	phosphoenolpyruvate carboxykinase 2, mitochondrial	PCK2 Aliases: PEPCK PEPCK2	Homo sapiens (human)	abdominal obesity-metabolic syndrome 1 bone osteosarcoma bronchus cancer bronchus carcinoma cancer childhood osteosarcoma diabetes mellitus diabetic ketoacidosis disease of metabolism embryoma hepatitis C hepatocellular carcinoma hyperglycemia hypoglycemia kwashiorkor liver cancer liver carcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma marasmus melanoma nutrition disease obesity osteosarcoma prostate cancer prostate carcinoma protein-energy malnutrition pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency rectal benign neoplasm rectum adenocarcinoma rectum cancer skin melanoma steatotic liver disease type 2 diabetes mellitus viral infectious disease
2651	glucosaminyl (N-acetyl) transferase 2 (I blood group)	GCNT2 Aliases: IGNT Ii blood group NAGCT1 ULG3 bA360O19.2 bA421M1.1 unassigned linkage group 3	Homo sapiens (human)	abdominal obesity-metabolic syndrome 1 breast cancer breast carcinoma cancer cataract 1 multiple types cataract 10 multiple types cataract 11 multiple types cataract 12 multiple types cataract 13 with adult i phenotype cataract 14 multiple types cataract 15 multiple types cataract 16 multiple types cataract 17 multiple types cataract 18 cataract 19 multiple types cataract 2 multiple types cataract 20 multiple types cataract 21 multiple types cataract 22 multiple types cataract 23 cataract 24 cataract 25 cataract 26 multiple types cataract 27 cataract 29 cataract 3 multiple types cataract 30 cataract 31 multiple types cataract 32 multiple types cataract 33 cataract 34 multiple types cataract 35 cataract 37 cataract 38 cataract 39 multiple types cataract 4 multiple types cataract 40 cataract 41 cataract 42 cataract 43 cataract 44 cataract 45 cataract 46 juvenile-onset cataract 5 multiple types cataract 6 multiple types cataract 7 cataract 8 multiple types cataract 9 multiple types cataract cervical adenocarcinoma cervical cancer cervix carcinoma childhood acute lymphocytic leukemia colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma esophagus squamous cell carcinoma gallbladder cancer gallbladder carcinoma hyperferritinemia-cataract syndrome kidney failure large intestine cancer melanoma skin melanoma tuberculosis uremia
116285	acyl-CoA synthetase medium chain family member 1	ACSM1 Aliases: MACS1	Homo sapiens (human)	abdominal obesity-metabolic syndrome 1 carcinoma cerebral palsy depressive disorder essential hypertension hemiplegia hypertension idiopathic scoliosis lung benign neoplasm lung carcinoma major depressive disorder melancholic depression neurotic disorder obsolete melancholia sarcomatoid carcinoma schizophrenia spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy

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