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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 **9226 - 9250** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0070038	autosomal dominant intellectual developmental disorder 8 Aliases: MRD8 autosomal dominant mental retardation 8 autosomal dominant non-syndromic intellectual disability 8	GRIN1	2902	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081182	autosomal recessive intellectual developmental disorder 6	GRIK2	2898	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080042	autosomal recessive spinocerebellar ataxia 18 Aliases: SCAR18	GRID2	2895	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060823	syndromic X-linked intellectual disability 94 Aliases: MRX94 MRXS29 mental retardation, X-linked 94 syndromic X-linked intellectual disability due to GRIA3 anomalies syndromic X-linked mental retardation 29 syndromic X-linked mental retardation Wu type	GRIA3	2892	Homo sapiens (human)	Alliance of Genome Resources
DOID:5418	schizoaffective disorder	GRIA1	2890	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081235	autosomal recessive intellectual developmental disorder 76	GRIA1	2890	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111671	primary hyperoxaluria type 2 Aliases: D-glycerate dehydrogenase deficiency HP2 L-glyceric aciduria glyoxylate reductase/hydroxypyruvate reductase deficiency oxalosis II	GRHPR	9380	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110557	autosomal dominant nonsyndromic deafness 28 Aliases: DFNA28 autosomal dominant deafness 28	GRHL2	79977	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080669	posterior polymorphous corneal dystrophy 4	GRHL2	79977	Homo sapiens (human)	Alliance of Genome Resources
DOID:1107	esophageal carcinoma Aliases: cancer of esophagus cancer of oesophagus carcinoma of esophagus carcinoma of oesophagus	GRB7 SLC7A5 STAT3	2886 6774 8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050922	gastrointestinal carcinoma	GRB7 NOD2	2886 64127	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111642	autosomal recessive nonsyndromic deafness 114 Aliases: DFNB114 autosomal recessive deafness 114	GRB2	2885	Homo sapiens (human)	Alliance of Genome Resources
DOID:11996	spermatic cord torsion Aliases: Torsion of testicle Torsion of testis testicular Torsion	GPX3	2878	Homo sapiens (human)	Alliance of Genome Resources
DOID:3572	intracranial sinus thrombosis	GPX3	2878	Homo sapiens (human)	Alliance of Genome Resources
DOID:10590	mild pre-eclampsia	GPX3	2878	Homo sapiens (human)	Alliance of Genome Resources
DOID:7941	Barrett's adenocarcinoma Aliases: Barrett adenocarcinoma adenocarcinoma Arising in Barrett's Mucosa	GPX3 GPX7	2878 2882	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112298	spondylometaphyseal dysplasia Sedaghatian type Aliases: SMDS Sedaghatian chondrodysplasia congenital lethal metaphyseal chondrodysplasia	GPX1 GPX2	852546 853842	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3717	gastric adenocarcinoma Aliases: adenocarcinoma of stomach stomach adenocarcinoma	GPX1 GPX2 PBS2 RNY1	852546 853313 853842 855980	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050861	colorectal adenocarcinoma	GPX1 GPX2 KEX2 RNY1 SNF5 STE6	852546 852592 853671 853842 855483 855980	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:285	hairy cell leukemia	GPX1 IL1RN	2876 3557	Homo sapiens (human)	Alliance of Genome Resources
DOID:1099	alpha thalassemia Aliases: Alpha thalassaemia alpha-Thalassemia	GPX1 HBA1 HBA2 HBB HP	2876 3039 3040 3043 3240	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080960	amelogenesis imperfecta type 2A6 Aliases: Amelogenesis imperfecta, hypomaturation type, IIA6	GPR68	8111	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110869	congenital stationary night blindness 1E Aliases: CSNB1E congenital stationary night blindness 1E autosomal recessive	GPR179	440435	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111795	congenital nystagmus 6 Aliases: NYS6 X-linked congenital nystagmus 6	GPR143	4935	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050633	ocular albinism 1 Aliases: Albinism ocular 1 ocular albinism	GPR143 TYR	4935 7299	Homo sapiens (human)	Alliance of Genome Resources

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