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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 **7151 - 7175** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0110127	Bardet-Biedl syndrome 5 Aliases: BBS5	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:0110137	Bardet-Biedl syndrome 15 Aliases: BBS15	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:0110135	Bardet-Biedl syndrome 13 Aliases: BBS13	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:0110131	Bardet-Biedl syndrome 9 Aliases: BBS9	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:0110136	Bardet-Biedl syndrome 14 Aliases: BBS14	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:0110139	Bardet-Biedl syndrome 17 Aliases: BBS17	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:0110134	Bardet-Biedl syndrome 12 Aliases: BBS12	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:0110141	Bardet-Biedl syndrome 19 Aliases: BBS19	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:0110140	Bardet-Biedl syndrome 18 Aliases: BBS18	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:0110125	Bardet-Biedl syndrome 3 Aliases: BBS3	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:0110128	Bardet-Biedl syndrome 6 Aliases: BBS6	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:0110130	Bardet-Biedl syndrome 8 Aliases: BBS8	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:0110129	Bardet-Biedl syndrome 7 Aliases: BBS7	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:0110126	Bardet-Biedl syndrome 4 Aliases: BBS4	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:0110132	Bardet-Biedl syndrome 10 Aliases: BBS10	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:0060427	chromosome Xp21 deletion syndrome Aliases: Xp21 microdeletion syndrome complex glycerol kinase deficiency monosomy Xp21	GK IL1RAPL1	11141 2710	Homo sapiens (human)	DisGeNET
DOID:0060473	Kabuki syndrome Aliases: KMS Kabuki make up syndrome Niikawa-Kuroki syndrome	MACROD2	140733	Homo sapiens (human)	DisGeNET
DOID:0050647	Arts syndrome Aliases: ARTS Lethal ataxia with deafness and optic atrophy MRXS18 MRXSARTS fatal X-linked ataxia with deafness and loss of vision syndromic X-linked mental retardation 18 syndromic X-linked mental retardation Arts type	PRPS1	5631	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060577	3MC syndrome 3	COLEC10 COLEC11 MASP1	10584 5648 78989	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060225	3MC syndrome Aliases: craniofacial-ulnar-renal syndrome oculopalatoskeletal syndrome	COLEC10 COLEC11 MASP1	10584 5648 78989	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0060575	3MC syndrome 1	COLEC11 MASP1	5648 78989	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050757	deafness-dystonia-optic neuronopathy syndrome Aliases: Deafness Dystonia Optic Atrophy Syndrome Deafness Dystonia Optic Neuronopathy Syndrome Dystonia Deafness Syndrome Jensen syndrome Mohr-Tranebjaerg syndrome deafness dystonia syndrome	AKR1B1 CHGA MRC1 MUTYH PARP1 PIK3CA PIK3CB PIK3CD PIK3CG SDHD SLC33A1 SMUG1 TPI1	1113 142 231 23583 4360 4595 5290 5291 5293 5294 6392 7167 9197	Homo sapiens (human)	DisGeNET
DOID:0060179	Renpenning syndrome Aliases: Golabi-Ito-Hall syndrome Sutherland-Haan X-linked mental retardation syndrome X-linked intellectual disability due to PQBP1 mutations X-linked intellectual disability, Renpenning type X-linked mental retardation Renpenning type X-linked mental retardation with spastic diplegia syndromic X-linked mental retardation 8	G6PD STS	2539 412	Homo sapiens (human)	DisGeNET
DOID:0111052	Scott syndrome Aliases: BDPLT7 SCTS bleeding abnormality due to deficiency of platelet biding of factor X familial prothrombin consumption inhibitor familial prothrombin conversion defect platelet-type bleeding disorder 7 prothrombin consumption deficiency	ANXA5	308	Homo sapiens (human)	DisGeNET
DOID:0060248	Simpson-Golabi-Behmel syndrome type 1 Aliases: DGSX Golabi-Rosen syndrome Golabi-Rosen syndrome SGB syndrome Sara Angers syndrome Simpson dysmorphia syndrome X-linked dysplasia gigantism syndrome bulldog syndrome	CD44 COLGALT1 GPC1 GPC3 GPC5 GPC6 HPRT1 NAMPT PIGA SLC2A4	10082 10135 2262 2719 2817 3251 5277 6517 79709 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources

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