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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 **14676 - 14700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0070042	Coffin-Siris syndrome 1 Aliases: CSS1 MRD12 autosomal dominant mental retardation 12 fifth digit syndrome	ARID1A	8289	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070044	Coffin-Siris syndrome 2 Aliases: CSS2 MRD14 autosomal dominant mental retardation 14	ARID1A	8289	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112166	autosomal dominant nonsyndromic deafness 75 Aliases: DFNA75	TRRAP	8295	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111067	congenital bile acid synthesis defect 6 Aliases: CBAS6	ACOX2	8309	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070526	PLACK syndrome Aliases: peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	CAST	831	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060844	Norrie disease Aliases: Episkopi blindness Norrie-Warburg disease atrophia bulborum hereditaria	FZD4	8322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111412	exudative vitreoretinopathy 1 Aliases: EVR1	FZD4	8322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080079	nonsyndromic congenital nail disorder 1 Aliases: nonsyndromic congenital nail disorder 10 twenty-nail dystrophy	FZD6	8323	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111010	cone-rod dystrophy 5 Aliases: CORD5	PITPNM3	83394	Homo sapiens (human)	Alliance of Genome Resources
DOID:1064	cystinosis Aliases: cystine storage disease	Ctns	83429	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111922	spermatogenic failure 31 Aliases: SPGF31	PMFBP1	83449	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081271	Smith-McCort dysplasia 2	RAB33B	83452	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080959	arrhythmogenic right ventricular dysplasia 14	Cdh2	83501	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080948	agenesis of corpus callosum, cardiac, ocular, and genital syndrome	Cdh2	83501	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080764	hereditary diffuse gastric cancer	Cdh1	83502	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080345	blepharocheilodontic syndrome 1	Cdh1	83502	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4372	intracranial embolism Aliases: Cerebral embolism with cerebral infarction cerebral embolism	Kl	83504	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2247	spondylosis Aliases: Lumbar spondylosis with myelopathy Spondylogenic compression of lumbar spinal cord Spondylogenic compression of thoracic spinal cord Thoracic or lumbar spondylosis with myelopathy lumbosacral spondylosis without myelopathy spondylosis with myelopathy	Kl	83504	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060470	salt and pepper syndrome Aliases: salt & pepper syndrome salt-and-pepper syndrome	St3gal5	83505	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Aliases: CONDSIAS	Parg	83507	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060439	lysinuric protein intolerance Aliases: LPI dibasic amino aciduria II hyperdibasic aminoaciduria	Slc7a7	83509	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1907	malignant fibrous histiocytoma Aliases: Fibroxanthosarcoma MFH	Ppargc1a	83516	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110726	neuronal ceroid lipofuscinosis 2 Aliases: CLN2 neuronal ceroid lipofuscinosis 2 variable age at onset	Tpp1	83534	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080059	autosomal recessive spinocerebellar ataxia 7 Aliases: SCAR7	Tpp1	83534	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070218	familial hyperinsulinemic hypoglycemia 2 Aliases: Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency HHF2 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia	Kcnj11	83535	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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