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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 **7151 - 7175** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0060464	Feingold syndrome Aliases: FGLDS MODED syndrome ODED syndrome digital anomalies with short palpebral fissures and atresia of esophagus or duodenum microcephaly-digital anomalies-normal intelligence syndrome microcephaly-oculo-digito-esophageal-duodenal syndrome oculo-digito-esophageal-duodenal syndrome	MYCN	4613	Homo sapiens (human)	Alliance of Genome Resources
DOID:3672	rhabdoid cancer Aliases: Rhabdoid sarcoma malignant rhabdoid tumour	MYC SMARCA4 SMARCB1	4609 6597 6598	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110858	polycystic kidney disease 1 Aliases: Apkd1 Pkd1 Polycystic Kidney Disease, Adult, Type I	MYC PKD1	4609 5310	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110310	hypertrophic cardiomyopathy 4 Aliases: CMH4 cardiomyopathy, familial hypertrophic, 4	MYBPC3	4607	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081158	dilated cardiomyopathy 1MM	MYBPC3	4607	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081348	congenital myopathy 16	MYBPC1	4604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111598	distal arthrogryposis type 1B Aliases: DA1B	MYBPC1	4604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060654	lethal congenital contracture syndrome 4	MYBPC1	4604	Homo sapiens (human)	Alliance of Genome Resources
DOID:3512	neurofibrosarcoma Aliases: Neurosarcoma	MXI1 VEGFA	4601 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050452	mevalonic aciduria Aliases: Mevalonate Kinase Deficiency	MVK TNF	4598 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080410	familial adenomatous polyposis 2 Aliases: MUTYH-associated polyposis MUTYH-related attenuated FAP MUTYH-related attenuated familial adenomatous polyposis MUTYH-related attenuated familial polyposis coli	MUTYH	4595	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110670	congenital myasthenic syndrome 9 Aliases: CMS9 congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency	MUSK	4593	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111377	fetal akinesia deformation sequence syndrome 1 Aliases: FADS1	MUSK	4593	Homo sapiens (human)	Alliance of Genome Resources
DOID:14323	Marfan syndrome Aliases: Marfan's syndrome	MUS81	851994	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:9675	pulmonary emphysema	MUS81	851994	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050645	arterial tortuosity syndrome	MUS81	851994	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:9368	keratoconjunctivitis	MUC16 MUC5AC TLR2	4586 7097 94025	Homo sapiens (human)	Alliance of Genome Resources
DOID:13891	bird fancier's lung Aliases: Avian hypersensitivity Pneumonitis Bird-fancier's lung Bird-fanciers' lung bird breeder's lung bird fancier lung pigeon breeder's lung poultry worker's lung	MUC1	4582	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060062	familial juvenile hyperuricemic nephropathy	MUC1 REN UMOD	4582 5972 7369	Homo sapiens (human)	Alliance of Genome Resources
DOID:3030	mucinous adenocarcinoma Aliases: Mucin-Secreting adenocarcinoma Mucin-Secreting carcinoma Mucous carcinoma Pseudomyxoma peritonei with unknown primary site mucin-producing adenocarcinoma	MUC1 MUC2 MUC4 MUC5AC MUC6 ZFHX3	4582 4583 4585 4586 4588 463	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081301	intellectual developmental disorder with ocular anomalies and distinctive facial features Aliases: IDDOF MTSS2-related neurodevelopmental disorder	MTSS1 MTSS2	92154 9788	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110807	hereditary spastic paraplegia 55 Aliases: SPG55 autosomal recessive spastic paraplegia 55 autosomal recessive spastic paraplegia type 55	MTRFR	91574	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111487	combined oxidative phosphorylation deficiency 7 Aliases: COXPD7 severe C12ORF65-related COXPD severe C12ORF65-related combined oxidative phosphorylation defect	MTRFR	91574	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050733	methylmalonic aciduria and homocystinuria type cblG	MTR	4548	Homo sapiens (human)	Alliance of Genome Resources
DOID:8411	kidney angiomyolipoma Aliases: Angiomyolipoma of kidney renal Angiomyolipoma	MTOR	2475	Homo sapiens (human)	Alliance of Genome Resources

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