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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 **3551 - 3575** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:1068	juvenile glaucoma Aliases: Glaucoma of childhood	MYOC	4653	Homo sapiens (human)	Alliance of Genome Resources
DOID:14159	obstructive hydrocephalus	MYO9A	4649	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110477	autosomal recessive nonsyndromic deafness 2 Aliases: DFNB2 autosomal recessive deafness 2	MYO7A	4647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110543	autosomal dominant nonsyndromic deafness 11 Aliases: DFNA11 autosomal dominant deafness 11	MYO7A	4647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110826	Usher syndrome type 1 Aliases: US1 USH1	MYO7A	4647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110552	autosomal dominant nonsyndromic deafness 22 Aliases: DFNA22 autosomal dominant deafness 22	MYO6	4646	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
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:0111131	focal segmental glomerulosclerosis 6 Aliases: FSGS6	MYO1E	4643	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050957	spinocerebellar ataxia type 4	ZFHX3	463	Homo sapiens (human)	Alliance of Genome Resources
DOID:4929	tubular adenocarcinoma Aliases: tubular carcinoma	ZFHX3	463	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:0060651	MYH-9 related disease	MYH9	4627	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: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:3755	antithrombin III deficiency Aliases: AT III deficiency hereditary thrombophilia due to congenital antithrombin deficiency	SERPINC1	462	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060162	dentatorubral-pallidoluysian atrophy Aliases: DRPLA Haw River Syndrome Naito-Oyanagi disease	Gug	46156	Drosophila melanogaster (fruit fly)	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: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:8584	Burkitt lymphoma Aliases: Burkitt lymphoma/leukaemia Burkitt's Lymphoma Burkitt's tumor Burkitt's tumor or lymphoma malignant lymphoma, Burkitt's type small Non-Cleaved cell Lymphoma, Burkitt's type	BTK CALR CD40 CD79B MYC	4609 695 811 958 974	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:13543	hyperparathyroidism	CASR CDC73 MYC TRPV6	4609 55503 79577 846	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:5394	prolactinoma Aliases: PITUITARY ADENOMA, PROLACTIN-SECRETING Prolactinoma of Pituitary gland familial prolactinoma	BMP4 MYC NPY5R PRL PTGS2	4609 4889 5617 5743 652	Homo sapiens (human)	Alliance of Genome Resources

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