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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 **526 - 550** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:0060462	Desbuquois dysplasia Aliases: Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	CHST3 FAM20B PGM3 XYLT1 XYLT2	5238 64131 64132 9469 9917	Homo sapiens (human)
DOID:2920	membranoproliferative glomerulonephritis Aliases: Lobular glomerulonephritis chronic glomerulonephritis, lobular	DGKE PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	5238 5290 5291 5293 5294 5728 8526	Homo sapiens (human)
DOID:0080570	congenital disorder of glycosylation It Aliases: congenital disorder of glycosylation 1t	PGM1	5236	Homo sapiens (human)
DOID:0060728	NGLY1-deficiency Aliases: NGLY1-CDDG congenital disorder of deglycosylation congenital disorder of glycosylation type Iv deficiency of N-glycanase 1	ENGASE NGLY1 PGM1	5236 55768 64772	Homo sapiens (human)
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	PGK1	5230	Homo sapiens (human)
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)
DOID:0110388	retinitis pigmentosa 10 Aliases: RP10	PGK1	5230	Homo sapiens (human)
DOID:1838	Menkes disease Aliases: COPPER TRANSPORT DISEASE Menkes kinky-hair syndrome steely hair syndrome	CD38 PGK1	5230 952	Homo sapiens (human)
DOID:0090057	X-linked dystonia-parkinsonism	ALDH5A1 PGK1	5230 7915	Homo sapiens (human)
DOID:12397	entropion	ATP6V1A	523	Homo sapiens (human)
DOID:0112275	developmental and epileptic encephalopathy 93 Aliases: DEE93 IECEE3 infantile or early childhood epileptic encephalopathy 3	ATP6V1A	523	Homo sapiens (human)
DOID:14449	mixed gonadal dysgenesis	PGD	5226	Homo sapiens (human)
DOID:3301	gonadoblastoma	CAT PGD	5226 847	Homo sapiens (human)
DOID:14761	Greig cephalopolysyndactyly syndrome Aliases: polysyndactyly with peculiars skull shape	PGAM2	5224	Homo sapiens (human)
DOID:3978	extrinsic cardiomyopathy	PFKFB3	5209	Homo sapiens (human)
DOID:0080197	congenital muscular dystrophy with cataracts and intellectual disability	INPP5K	51763	Homo sapiens (human)
DOID:3125	multiple endocrine neoplasia Aliases: Multiple endocrine adenomatosis Multiple endocrine neoplasia syndrome	GHRL	51738	Homo sapiens (human)
DOID:0060774	congenital diarrhea	ACSL5	51703	Homo sapiens (human)
DOID:3660	wheat allergy Aliases: allergy to wheat wheat allergic reaction	ENPP3 HACD1	5169 9200	Homo sapiens (human)
DOID:0050958	spinocerebellar ataxia type 7	ELOVL5 ENPP2 PRNP SPTLC3	5168 55304 5621 60481	Homo sapiens (human)
DOID:3540	choroid plexus cancer Aliases: tumor of choroid plexus tumor of the Choroid Plexus	ENPP2 PLAUR	5168 5329	Homo sapiens (human)
DOID:2073	perinatal intestinal perforation	ENPP1	5167	Homo sapiens (human)
DOID:12733	hypercementosis Aliases: Cementation hyperplasia	ENPP1	5167	Homo sapiens (human)
DOID:4138	bile duct disease Aliases: bile duct disorder disorder of bile duct	ENPP1	5167	Homo sapiens (human)
DOID:0111530	linear nevus sebaceous syndrome Aliases: JNP Jadassohn nevus phakomatosis SFM syndrome Schimmelpenning Feuerstein Mims syndrome Schimmelpenning syndrome Solomon syndrome nevus sebaceus of Jadassohn nevus sebaceus syndrome organoid nevus phakomatosis organoid nevus syndrome	ENPP1	5167	Homo sapiens (human)

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