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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4126 - 4150** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:0050775	schneckenbecken dysplasia	sqv-7	174145	Caenorhabditis elegans
DOID:0070111	Niemann-Pick disease type A	asm-1 asm-2 asm-3	174131 176879 181323	Caenorhabditis elegans
DOID:893	Wilson disease Aliases: Cerebral pseudosclerosis Westphal pseudosclerosis Westphal-Strumpell syndrome Wilson's disease hepatolenticular degeneration	asm-1 asm-2 asm-3	174131 176879 181323	Caenorhabditis elegans
DOID:0070112	Niemann-Pick disease type B	asm-1 asm-2 asm-3	174131 176879 181323	Caenorhabditis elegans
DOID:14504	Niemann-Pick disease Aliases: Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis	asm-1 asm-2 asm-3	174131 176879 181323	Caenorhabditis elegans
DOID:10763	hypertension Aliases: HTN hyperpiesia vascular hypertensive disorder	cgt-1 cgt-2 cgt-3 cht-1 enol-1	174001 174423 180628 181790 188169	Caenorhabditis elegans
DOID:0080561	congenital disorder of glycosylation Ii Aliases: congenital disorder of glycosylation 1i	algn-2	173912	Caenorhabditis elegans
DOID:0110669	congenital myasthenic syndrome 14 Aliases: CMS14 CMSTA3 congenital myasthenic syndrome 14, with tubular aggregates congenital myasthenic syndrome with tubular aggregates 3	algn-2	173912	Caenorhabditis elegans
DOID:5847	posterior myocardial infarction	DLD	1738	Homo sapiens (human)
DOID:0110912	leukocyte adhesion deficiency 3 Aliases: IADD LAD1 variant LAD1V LAD3 integrin activation deficiency disease leukocyte adhesion deficiency 1 variant leukocyte adhesion deficiency type III	DLD	1738	Homo sapiens (human)
DOID:0080154	short chain acyl-CoA dehydrogenase deficiency	ACADS ACADSB DLD	1738 35 36	Homo sapiens (human)
DOID:93	language disorder	ARSD DLD GPD2 PPP1R3A PRPS1 STS	1738 2820 412 414 5506 5631	Homo sapiens (human)
DOID:2033	communication disorder	ARSD DLD GPD2 PPP1R3A PRPS1 PTEN STS	1738 2820 412 414 5506 5631 5728	Homo sapiens (human)
DOID:0060350	adenine phosphoribosyltransferase deficiency Aliases: 2,8-dihydroxyadenine urolithiasis APRT deficiency	APRT DLD GALNS UMOD	1738 2588 353 7369	Homo sapiens (human)
DOID:12550	hepatic coma Aliases: Hepatocerebral intoxication	CD14 DLD G6PD GLUL ISYNA1 PCK1 PTGS1 SMUG1 STS	1738 23583 2539 2752 412 5105 51477 5742 929	Homo sapiens (human)
DOID:13413	hepatic encephalopathy Aliases: Portal-systemic encephalopathy	CD14 DLD G6PD GLUL ISYNA1 PCK1 PTGS1 SMUG1 STS	1738 23583 2539 2752 412 5105 51477 5742 929	Homo sapiens (human)
DOID:8527	monocytic leukemia Aliases: Schilling's leukaemia Schilling's leukemia monocytic leukaemia	DLD ICAM1 IDH1 KLRK1 MACROD1 VCAM1	1738 22914 28992 3383 3417 7412	Homo sapiens (human)
DOID:3652	Leigh disease Aliases: Infantile necrotizing encephalomyelopathy Leigh syndrome juvenile subacute necrotizing encephalomyelopathy	DLD ECHS1 GYG2 HIBCH HSD17B6 MRC1 OGDH PDHA1 PDHB PDHX PGD PTGS1 SDHA SDHB SDHC SLC39A8 SUCLA2 SUCLG1 TKT TYMP	1738 1890 1892 26275 4360 4967 5160 5162 5226 5742 6389 6390 6391 64116 7086 8050 8630 8802 8803 8908	Homo sapiens (human)
DOID:11561	hypertensive retinopathy	DLD DLST FH HSD11B2 MDH2 SDHA SDHB SDHC SDHD	1738 1743 2271 3291 4191 6389 6390 6391 6392	Homo sapiens (human)
DOID:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	R11F4.1	173747	Caenorhabditis elegans
DOID:0060363	glycerol kinase deficiency	R11F4.1	173747	Caenorhabditis elegans
DOID:13353	diffuse interstitial keratitis	DLAT GBA1 GPAA1 INPP5E NGLY1 PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY	1737 2629 27315 284098 55650 55768 56623 84720 84992 8733 93210 9487	Homo sapiens (human)
DOID:0111147	angioimmunoblastic T-cell lymphoma	DLAT GAPDH IDH1 IDH2 PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 SMUG1 STS	1737 23583 2597 3417 3418 412 5290 5291 5293 5294 5335	Homo sapiens (human)
DOID:0060216	Cogan syndrome Aliases: Cogan's syndrome diffuse interstitual keratitis	ALDH3A2 DLAT GBA1 GPAA1 INPP5E NGLY1 PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY	1737 224 2629 27315 284098 55650 55768 56623 84720 84992 8733 93210 9487	Homo sapiens (human)
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	sqv-2	173635	Caenorhabditis elegans

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