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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 **976 - 1000** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:0110127	Bardet-Biedl syndrome 5 Aliases: BBS5	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110141	Bardet-Biedl syndrome 19 Aliases: BBS19	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110136	Bardet-Biedl syndrome 14 Aliases: BBS14	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110130	Bardet-Biedl syndrome 8 Aliases: BBS8	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110125	Bardet-Biedl syndrome 3 Aliases: BBS3	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110137	Bardet-Biedl syndrome 15 Aliases: BBS15	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110138	Bardet-Biedl syndrome 16 Aliases: BBS16	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Aliases: CONDSIAS	ADPRS BPHL PARG	54936 670 8505	Homo sapiens (human)
DOID:0081312	T-cell non-Hodgkin lymphoma	IER3 TMEM260 TP53	54916 7157 8870	Homo sapiens (human)
DOID:2377	multiple sclerosis Aliases: Generalized multiple sclerosis insular sclerosis	b4galt5 b4galt6	548965 549139	Xenopus tropicalis (tropical clawed frog)
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	alg10	548946	Xenopus tropicalis (tropical clawed frog)
DOID:0110645	long QT syndrome 2 Aliases: LQT2	alg10	548946	Xenopus tropicalis (tropical clawed frog)
DOID:0080558	congenital disorder of glycosylation If Aliases: congenital disorder of glycosylation 1f	mpdu1	548940	Xenopus tropicalis (tropical clawed frog)
DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Aliases: CONDSIAS	adprs	548938	Xenopus tropicalis (tropical clawed frog)
DOID:0080559	congenital disorder of glycosylation Ig Aliases: ALG12-congenital disorder of glycosylation congenital disorder of glycosylation 1g	alg12	548874	Xenopus tropicalis (tropical clawed frog)
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	b3galt6	548849	Xenopus tropicalis (tropical clawed frog)
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	b3galt6	548849	Xenopus tropicalis (tropical clawed frog)
DOID:0080560	congenital disorder of glycosylation Ih Aliases: congenital disorder of glycosylation 1h	alg8	548388	Xenopus tropicalis (tropical clawed frog)
DOID:0050770	polycystic liver disease Aliases: congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease	alg8	548388	Xenopus tropicalis (tropical clawed frog)
DOID:8704	genital herpes Aliases: Genital herpes simplex Herpes Genitalis Virus-Genital Herpes venereal herpes	CTSA	5476	Homo sapiens (human)
DOID:0080523	adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Aliases: hereditary diffuse leukoencephalopathy with spheroids	CTSA	5476	Homo sapiens (human)
DOID:0070430	combined oxidative phosphorylation deficiency 57 Aliases: COXPD57	CRLS1	54675	Homo sapiens (human)
DOID:12638	hypertrophic pyloric stenosis Aliases: congenital hypertrophic pyloric stenosis congenital or infantile stricture of pylorus	UGT1A1	54658	Homo sapiens (human)
DOID:0060780	congenital diarrhea 6 Aliases: chronic diarrhea due to guanylate cyclase 2C overactivity chronic diarrhoea due to guanylate cyclase 2C overactivity congenital diarrhoea 6	DGAT1 UGT1A1	54658 8694	Homo sapiens (human)
DOID:3803	Crigler-Najjar syndrome Aliases: Bilirubin UDP glucuronyl transferase deficiency Crigler Najjar syndrome Crigler-Najjar syndrome, type I	SLC35A2 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 7355	Homo sapiens (human)

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