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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 **12626 - 12650** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0060571	Ritscher-Schinzel syndrome 1	WASHC5	9897	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110823	hereditary spastic paraplegia 8 Aliases: SPG8 autosomal dominant spastic paraplegia 8 autosomal dominant spastic paraplegia type 8	WASHC5	9897	Homo sapiens (human)	Alliance of Genome Resources
DOID:9169	Wiskott-Aldrich syndrome Aliases: Wiskott syndrome	WASL	8976	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080569	congenital disorder of glycosylation Ir Aliases: congenital disorder of glycosylation 1r	WBP1	856716	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070295	primary autosomal dominant microcephaly 18 Aliases: MCPH18	WDFY3	23001	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080804	cranioectodermal dysplasia 2	WDR35	57539	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110090	short-rib thoracic dysplasia 7 with or without polydactyly Aliases: SRPS5 SRTD7 short rib-polydactyly syndrome type V	WDR35	57539	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111675	neurooculocardiogenitourinary syndrome Aliases: NOCGUS	WDR37	22884	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110739	neurodegeneration with brain iron accumulation 5 Aliases: BPAN Beta-Propeller Protein-Associated Neurodegeneration NBIA5 SENDA Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood	WDR45	11152	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110061	amelogenesis imperfecta hypomaturation type 2A3 Aliases: AI2A3 amelogenesis imperfecta hypomaturation type IIA3 amelogenesis imperfecta type IIA3	WDR72	256764	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111169	subcortical band heterotopia Aliases: HeCo band heterotopia double cortex syndrome heterotopic cortex subcortical laminar heterotopia	WDR75	84128	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110629	Wolfram syndrome 1 Aliases: DIDMOAD WFS1 diabetes mellitus AND insipidus with optic atrophy AND deafness	WFS1	7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080584	autosomal dominant Wolfram syndrome	WFS1	7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:10632	Wolfram syndrome Aliases: WFS	WFS1	7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110241	cataract 41 Aliases: CTRCT41 congenital nuclear type cataract 41	WFS1	7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110584	autosomal dominant nonsyndromic deafness 6 Aliases: DFNA14 DFNA38 DFNA6 autosomal dominant deafness 14 autosomal dominant deafness 38 autosomal dominant deafness 6	WFS1	7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111446	progressive myoclonus epilepsy 3 Aliases: CLN14 disease EPM3 PME type 3 Progressive myoclonic epilepsy due to KCTD7 deficiency Progressive myoclonus epilepsy type 3 neuronal ceroid lipofuscinosis 14	WHI2	854208	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110490	autosomal recessive nonsyndromic deafness 31 Aliases: DFNB31 autosomal recessive deafness 31	WHRN	25861	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110840	Usher syndrome type 2D Aliases: USH2D Usher syndrome type IID	WHRN	25861	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070473	Zaki syndrome	WLS	79971	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070155	hereditary sensory and autonomic neuropathy type 2A Aliases: HSAN2A hereditary sensory and autonomic neuropathy type IIA	WNK1	65125	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060805	Prieto syndrome Aliases: Prieto-Badia-Mulas syndrome X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome	WNK3	65267	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110347	osteogenesis imperfecta type 15 Aliases: OI15 osteogenesis imperfecta type XV	WNT1	7471	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111647	Schopf-Schulz-Passarge syndrome Aliases: SSPS eccrine tumors-ectodermal dysplasia keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome	WNT10A	80326	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090026	split hand-foot malformation 6 Aliases: SHFM6	WNT10B	7480	Homo sapiens (human)	Alliance of Genome Resources

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