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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 **5426 - 5450** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:5410	pulmonary neuroendocrine tumor	RNASET2	8635	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081007	RNASET2-deficient cystic leukoencephalopathy Aliases: cystic leukoencephalopathy without megalencephaly infantile-onset RNASET2 deficient cystic leukoencephalopathy	RNASET2	8635	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111481	combined oxidative phosphorylation deficiency 11 Aliases: COXPD11 infantile encephaloneuromyopathy due to mitochondrial translation defect	RMND1	55005	Homo sapiens (human)	Alliance of Genome Resources
DOID:526	human immunodeficiency virus infectious disease Aliases: HIV infection	RLI1 STE6	851665 853671	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050683	Bothnia retinal dystrophy Aliases: Vasterbotten dystrophy	RLBP1	6017	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111015	Newfoundland cone-rod dystrophy Aliases: NFRCD	RLBP1	6017	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110551	autosomal dominant nonsyndromic deafness 21 Aliases: DFNA21 autosomal dominant deafness 21	RIPOR2	9750	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110465	autosomal recessive nonsyndromic deafness 104 Aliases: DFNB104 autosomal recessive deafness 104	RIPOR2	9750	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111952	immunodeficiency 57 Aliases: IMD57 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome immunodeficiency 57 with autoinflammation	RIPK1	8737	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070416	Luo-Schoch-Yamamoto syndrome Aliases: LUSYAM	RING1 RNF2	6015 6045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070394	developmental and epileptic encephalopathy 108 Aliases: DEE108 early infantile epileptic encephalopathy 108	RIM15	850511	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111403	mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations Aliases: MCCCHCM	RIM15	850511	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050665	fetal alcohol syndrome	RHOA	387	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080377	peroxisomal biogenesis disorder	RHOA RHOB RHOC	387 388 389	Homo sapiens (human)	Alliance of Genome Resources
DOID:9408	acute myocardial infarction	RHO1	856294	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080377	peroxisomal biogenesis disorder	RHO1	856294	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050665	fetal alcohol syndrome	RHO1	856294	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:10976	membranous glomerulonephritis Aliases: membranous nephropathy	RHO1	856294	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2377	multiple sclerosis Aliases: Generalized multiple sclerosis insular sclerosis	RHO1 SMF3	850721 856294	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110862	congenital stationary night blindness autosomal dominant 1 Aliases: CSNBAD1 rhodopsin-related congenital stationary night blindness	RHO	6010	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110372	retinitis pigmentosa 4 Aliases: RP4	RHO	6010	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111506	palmoplantar keratoderma-esophageal carcinoma syndrome Aliases: Bennion-Patterson syndrome Howell-Evans syndrome TOC keratosis palmaris et plantaris with esophageal cancer keratosis palmoplantaris-esophageal carcinoma syndrome palmoplantar hyperkeratosis-esophageal carcinoma syndrome palmoplantar keratoderma with esophageal cancer tylosis with esophageal cancer tylosis-oesophageal carcinoma syndrome	RHBDF2	79651	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050641	Rh deficiency syndrome	RHAG	6005	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111562	overhydrated hereditary stomatocytosis Aliases: OHS potassium sodium disorder of erythrocyte stomatocytosisIOHST	RHAG	6005	Homo sapiens (human)	Alliance of Genome Resources
DOID:12528	lesion of sciatic nerve	RGS3	5998	Homo sapiens (human)	Alliance of Genome Resources

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