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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 **8801 - 8825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0060654	lethal congenital contracture syndrome 4	MYBPC1	4604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081348	congenital myopathy 16	MYBPC1	4604	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: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:3672	rhabdoid cancer Aliases: Rhabdoid sarcoma malignant rhabdoid tumour	MYC SMARCA4 SMARCB1	4609 6597 6598	Homo sapiens (human)	Alliance of Genome Resources
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:12253	testicular lymphoma Aliases: lymphoma of the testis malignant lymphoma of testis	MYD88	4615	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111269	autosomal dominant hyaline body myopathy Aliases: MSMA Myopathy, myosin storage, autosomal dominant congenital myopathy 7A myopathy with lysis of type I myofibrils	MYH15 MYH1 MYH7	22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:2106	myotonia congenita Aliases: Batten Turner congenital myopathy Thomsen and Becker disease	MYH15 MYH1 MYH7	22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110454	dilated cardiomyopathy 1S Aliases: CMD1S	MYH15 MYH1 MYH7	22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080719	congenital myopathy 6 Aliases: inclusion body myopathy 3 proximal myopathy and ophthalmoplegia	MYH15 MYH1 MYH7	22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111602	distal arthrogryposis type 2B3 Aliases: DA2B3 distal arthrogryposis type 2B3 (Sheldon-Hall)	MYH15 MYH1 MYH7	22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111596	distal arthrogryposis type 1 Aliases: DA1 digitotalar dysmorphism	MYH15 MYH1 MYH7	22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111605	distal arthrogryposis type 2A Aliases: DA2A distal arthrogryposis type 2A (Freeman-Sheldon)	MYH15 MYH1 MYH7	22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070197	distal myopathy 1 Aliases: Distal myopathy type 1 Gowers disease Laing distal myopathy Laing early-onset distal myopathy MPD1	MYH7	4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110307	hypertrophic cardiomyopathy 1 Aliases: CMH1 cardiomyopathy, familial hypertrophic 1 hypertrophic cardiomyopathy 19	MYH7	4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111268	autosomal recessive hyaline body myopathy Aliases: MSMB Myopathy, myosin storage, autosomal recessive congenital myopathy 7B	MYH7	4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060651	MYH-9 related disease	MYH9	4627	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110548	autosomal dominant nonsyndromic deafness 17 Aliases: DFNA17 autosomal dominant deafness 17	MYH9	4627	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110488	autosomal recessive nonsyndromic deafness 3 Aliases: DFNB3 NRSD3 autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3	MYO15A	51168	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080592	Klippel-Feil syndrome 4	MYO18B	84700	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111131	focal segmental glomerulosclerosis 6 Aliases: FSGS6	MYO1E	4643	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060832	Griscelli syndrome type 1 Aliases: GS1 Griscelli syndrome with neurological impairment Griscelli syndrome, cutaneous and neurological type Griscelli-Prunieras syndrome type 1 hypopigmentation-neurologic impairment syndrome	MYO5A	4644	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110495	autosomal recessive nonsyndromic deafness 37 Aliases: DFNB37 autosomal recessive deafness 37	MYO6	4646	Homo sapiens (human)	Alliance of Genome Resources

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