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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 **6701 - 6725** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	GPI18	852289	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080283	developmental and epileptic encephalopathy 55 Aliases: DEE55 GPIBD14 early infantile epileptic encephalopathy 55 glycosylphosphatidylinositol biosynthesis defect 14	GPI19	852047	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0081223	glycosylphosphatidylinositol biosynthesis defect 16 Aliases: Intellectual developmental disorder, autosomal recessive 62	GPI2	856029	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111420	familial GPIHBP1 deficiency Aliases: familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency hyperlipoproteinemia type 1D hyperlipoproteinemia type ID	GPIHBP1	338328	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111630	familial erythrocytosis 8 Aliases: BPGM deficiency DPGM deficiency ECYT8 bisphosphoglycerate mutase deficiency bisphosphoglyceromutase deficiency diphosphoglycerate mutase deficiency of erythrocyte hemolytic anemia due to diphosphoglycerate mutase deficiency	GPM1	853705	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080932	primary localized cutaneous amyloidosis 3 Aliases: Amyloidosis cutis dyschromica	GPNMB	10457	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112007	growth hormone secreting pituitary adenoma 2 Aliases: GH-secreting pituitary adenoma 2 PITA2 X-linked acromegaly acromegaly due to pituitary adenoma 2	GPR101	83550	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
DOID:0111795	congenital nystagmus 6 Aliases: NYS6 X-linked congenital nystagmus 6	GPR143	4935	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:0080960	amelogenesis imperfecta type 2A6 Aliases: Amelogenesis imperfecta, hypomaturation type, IIA6	GPR68	8111	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:285	hairy cell leukemia	GPX1 IL1RN	2876 3557	Homo sapiens (human)	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: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: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: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:10590	mild pre-eclampsia	GPX3	2878	Homo sapiens (human)	Alliance of Genome Resources
DOID:3572	intracranial sinus thrombosis	GPX3	2878	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:0111642	autosomal recessive nonsyndromic deafness 114 Aliases: DFNB114 autosomal recessive deafness 114	GRB2	2885	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050922	gastrointestinal carcinoma	GRB7 NOD2	2886 64127	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:0080669	posterior polymorphous corneal dystrophy 4	GRHL2	79977	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

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