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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2876 - 2900** of **7942** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111156	spermatogenic failure 9 Aliases: globozoospermia male infertility due to round-headed spermatozoa	Dpy19l2	320752	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111156	spermatogenic failure 9 Aliases: globozoospermia male infertility due to round-headed spermatozoa	DPY19L2	283417	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111156	spermatogenic failure 9 Aliases: globozoospermia male infertility due to round-headed spermatozoa	Dpy19l2	300461	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111156	spermatogenic failure 9 Aliases: globozoospermia male infertility due to round-headed spermatozoa	dpy19l1l	368327	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111156	spermatogenic failure 9 Aliases: globozoospermia male infertility due to round-headed spermatozoa	dpy19l1	100485357	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0111156	spermatogenic failure 9 Aliases: globozoospermia male infertility due to round-headed spermatozoa	CG6659	32854	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111157	Castleman disease Aliases: angiofollicular lymph hyperplasia angiofollicular lymph node hyperplasia giant lymph node hyperplasia lymphoid hamartoma	CD48 FUT4 MLYCD SMUG1	23417 23583 2526 962	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0111158	SADDAN Aliases: SADDAN dysplasia severe achondroplasia with developmental delay and acanthosis nigricans	ACAN CYP2C19 DCN PLCG1	1557 1634 176 5335	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0111162	epidermal nevus Aliases: nonepidermolytic keratinocytic nevus	Pik3ca	18706	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111162	epidermal nevus Aliases: nonepidermolytic keratinocytic nevus	NSDHL PIK3CA PTEN	50814 5290 5728	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0111162	epidermal nevus Aliases: nonepidermolytic keratinocytic nevus	Pik3ca	170911	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111164	molybdenum cofactor deficiency type A Aliases: MOCOD type A MOCODA combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A molybdenum cofactor deficiency complementation group A	GLUL PNP	2752 4860	Homo sapiens (human)	DisGeNET
DOID:0111167	Dyggve-Melchior-Clausen disease Aliases: DMC disease pseudo-Morquio disease type I	PTGS2	5743	Homo sapiens (human)	DisGeNET
DOID:0111168	sepiapterin reductase deficiency Aliases: DRD due to SRD SPR deficiency SRD dopa-responsive dystonia due to sepiapterin reductase deficiency	CHI3L1 MCEE	1116 84693	Homo sapiens (human)	DisGeNET
DOID:0111169	subcortical band heterotopia Aliases: HeCo band heterotopia double cortex syndrome heterotopic cortex subcortical laminar heterotopia	ALPP ATRNL1 OCRL PAFAH1B1 SLC17A5	250 26033 26503 4952 5048	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0111180	French Canadian Leigh disease Aliases: French Canadian type COX deficiency French Canadian type Leigh syndrome French Canadian type cytochrome c oxidase deficiency Saguenay Lac saint Jean type COX deficiency Saguenay Lac saint Jean type Leigh syndrome mitochondrial complex IV deficiency nuclear type 5	PTGS1	5742	Homo sapiens (human)	DisGeNET
DOID:0111181	familial hemiplegic migraine 1 Aliases: FHM1 MHP1 familial hemiplegic migraine1 with progressive cerebellar ataxia	PMM2 PRKCSH	5373 5589	Homo sapiens (human)	DisGeNET
DOID:0111182	familial hemiplegic migraine 2 Aliases: FHM2 Familial hemiplegic migraine-2 MHP2	Atp1a2	98660	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111182	familial hemiplegic migraine 2 Aliases: FHM2 Familial hemiplegic migraine-2 MHP2	Atp1a2	24212	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111182	familial hemiplegic migraine 2 Aliases: FHM2 Familial hemiplegic migraine-2 MHP2	ATP1A2 DPEP1	1800 477	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111187	distal myopathy with anterior tibial onset Aliases: DMAT distal muscular dystrophy with anterior tibial onset	Dysf	26903	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111192	facioscapulohumeral muscular dystrophy 1 Aliases: FSHD1 facioscapulohumeral muscular dystrophy type 1 facioscapulohumeral muscular dystrophy type 1A	ACAN ALPP ATRNL1 CD44 DCN HSPG2 LARGE1 SDC2 ST3GAL4	1634 176 250 26033 3339 6383 6484 9215 960	Homo sapiens (human)	DisGeNET
DOID:0111195	erythrokeratodermia variabilis et progressiva 1	ELOVL4 KDSR	2531 6785	Homo sapiens (human)	DisGeNET
DOID:0111196	X-linked distal spinal muscular atrophy 3 Aliases: ATP7A-related distal motor neuropathy DSMAX SMAX3 X-linked dHMN3 X-linked dSMA3 X-linked distal hereditary motor neuropathy type 3 X-linked recessive distal spinal muscular atrophy	PGK1	5230	Homo sapiens (human)	DisGeNET
DOID:0111206	autosomal dominant distal hereditary motor neuronopathy 2 Aliases: HMN II HMN IIA HMN2 HMN2A autosomal dominant adult spinal muscular atrophy IIA distal hereditary motor neuronopathy type 2 distal hereditary motor neuronopathy type 2A distal hereditary motor neuropathy type II distal hereditary motor neuropathy type IIA spinal Charcot-Marie-Tooth disease IIA	PLA2G1B PLB1	151056 5319	Homo sapiens (human)	DisGeNET

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