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GlyCosmos Diseases

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

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **8676 - 8700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0050581	brachydactyly	HOXD13 SLC26A2	1836 3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:9827	radioulnar synostosis	HOXA11 SMAD6	3207 4091	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110589	autosomal dominant nonsyndromic deafness 68 Aliases: DFNA68 autosomal dominant deafness 68	HOMER2	9455	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111672	primary hyperoxaluria type 3 Aliases: HP3 PH III primary hyperoxaluria type III	HOGA1	112817	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080418	developmental and epileptic encephalopathy 54 Aliases: DEE54 early infantile epileptic encephalopathy 54	HNRNPU	3192	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070538	syndromic X-linked intellectual developmental disorder bain type Aliases: HNRNPH2-RNDD HNRNPH2-related neurodevelopmental disorder MRXSB Mental Retardation, X-linked, Syndrome, Bain Type	HNRNPH2	3188	Homo sapiens (human)	Alliance of Genome Resources
DOID:9432	renal glycosuria Aliases: renal diabetes	HNRNPF SLC5A2	3185 6524	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111384	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 Aliases: IBMPFD2 MSP2 multisystem proteinopathy 2	HNRNPA2B1	3181	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111189	distal myopathy 3 Aliases: MPD3 distal muscular dystrophy 3 distal myopathy type 3	HNRNPA1	3178	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060211	amyotrophic lateral sclerosis type 20 Aliases: ALS20 amyotrophic lateral sclerosis 20	HNRNPA1	3178	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111386	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 Aliases: IBMPFD3 MSP3 multisystem proteinopathy 3	HNRNPA1	3178	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110306	autosomal dominant limb-girdle muscular dystrophy type 3 Aliases: LGMD1G autosomal dominant limb-girdle muscular dystrophy type 1G muscular dystrophy limb-girdle type 1G	HNRNPA1 HNRNPA3 HNRNPAB HNRNPD MSI1	220988 3178 3182 3184 4440	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111666	proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Aliases: EPV Fowler syndrome Fowler vasculopathy PVHH cerebral proliferative glomeruloid vasculopathy encephaloclastic proliferative vasculopathy hydranencephaly, Fowler type hydrocephaly/hydranencephaly due to cerebral vasculopathy proliferative vasculopathy and hydranencephaly/hydrocephaly	HNM1	852803	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111102	maturity-onset diabetes of the young type 3 Aliases: MODY type 3 MODY3	HNF1A	6927	Homo sapiens (human)	Alliance of Genome Resources
DOID:4471	chromophobe renal cell carcinoma Aliases: Chromophobe carcinoma of kidney chromophobe adenocarcinoma kidney chromophobe renal cell carcinoma, chromophobe cell	HNF1A	6927	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110757	type 1 diabetes mellitus 20 Aliases: IDDM20 Insulin-Dependent Diabetes Mellitus 20	HNF1A	6927	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111366	familial hepatic adenoma Aliases: familial liver cell adenomas	HNF1A	6927	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060482	oculoauricular syndrome	HMX1	3166	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081168	HMG-CoA synthase 2 deficiency Aliases: 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency	HMGCS2	3158	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110274	autosomal recessive limb-girdle muscular dystrophy	HMGCR JAG2 LAMA2 POGLUT1 POMT2 POPDC3	29954 3156 3714 3908 56983 64208	Homo sapiens (human)	Alliance of Genome Resources
DOID:10787	premature menopause Aliases: Menopause - premature Menopause praecox	HMG1 HMG2	851171 854900	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2044	drug-induced hepatitis Aliases: Drug-induced chronic hepatitis	HMG1 HMG2	851171 854900	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:8805	intermediate coronary syndrome Aliases: Angina at rest Anginal chest pain at rest Impending infarction Preinfarction angina Unstable angina Worsening angina	HMG1 HMG2	851171 854900	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:423	myopathy	HMG1 HMG2 VPS1	851171 853870 854900	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:893	Wilson disease Aliases: Cerebral pseudosclerosis Westphal pseudosclerosis Westphal-Strumpell syndrome Wilson's disease hepatolenticular degeneration	HMG1 HMG2 PPN1	851171 852063 854900	Saccharomyces cerevisiae S288C	Alliance of Genome Resources

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