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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 **1101 - 1125** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0110388	retinitis pigmentosa 10 Aliases: RP10	PGK1	5230	Homo sapiens (human)	DisGeNET
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)	Alliance of Genome Resources
DOID:1838	Menkes disease Aliases: COPPER TRANSPORT DISEASE Menkes kinky-hair syndrome steely hair syndrome	CD38 PGK1	5230 952	Homo sapiens (human)	DisGeNET
DOID:0090057	X-linked dystonia-parkinsonism	ALDH5A1 PGK1	5230 7915	Homo sapiens (human)	DisGeNET DisGeNET
DOID:12397	entropion	ATP6V1A	523	Homo sapiens (human)	DisGeNET
DOID:0112275	developmental and epileptic encephalopathy 93 Aliases: DEE93 IECEE3 infantile or early childhood epileptic encephalopathy 3	ATP6V1A	523	Homo sapiens (human)	Alliance of Genome Resources
DOID:14449	mixed gonadal dysgenesis	PGD	5226	Homo sapiens (human)	DisGeNET
DOID:3301	gonadoblastoma	CAT PGD	5226 847	Homo sapiens (human)	DisGeNET
DOID:14761	Greig cephalopolysyndactyly syndrome Aliases: polysyndactyly with peculiars skull shape	PGAM2	5224	Homo sapiens (human)	DisGeNET
DOID:3978	extrinsic cardiomyopathy	PFKFB3	5209	Homo sapiens (human)	DisGeNET
DOID:0080197	congenital muscular dystrophy with cataracts and intellectual disability	INPP5K	51763	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:3125	multiple endocrine neoplasia Aliases: Multiple endocrine adenomatosis Multiple endocrine neoplasia syndrome	GHRL	51738	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060774	congenital diarrhea	ACSL5	51703	Homo sapiens (human)	Alliance of Genome Resources
DOID:3660	wheat allergy Aliases: allergy to wheat wheat allergic reaction	ENPP3 HACD1	5169 9200	Homo sapiens (human)	DisGeNET
DOID:0050958	spinocerebellar ataxia type 7	ELOVL5 ENPP2 PRNP SPTLC3	5168 55304 5621 60481	Homo sapiens (human)	DisGeNET
DOID:3540	choroid plexus cancer Aliases: tumor of choroid plexus tumor of the Choroid Plexus	ENPP2 PLAUR	5168 5329	Homo sapiens (human)	DisGeNET
DOID:4138	bile duct disease Aliases: bile duct disorder disorder of bile duct	ENPP1	5167	Homo sapiens (human)	DisGeNET
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)	DisGeNET
DOID:2073	perinatal intestinal perforation	ENPP1	5167	Homo sapiens (human)	DisGeNET
DOID:12733	hypercementosis Aliases: Cementation hyperplasia	ENPP1	5167	Homo sapiens (human)	DisGeNET
DOID:1214	tympanosclerosis	CAT ENPP1 TLR4	5167 7099 847	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:227	ankylosis	ENPP1 PLCB4	5167 5332	Homo sapiens (human)	DisGeNET
DOID:0070188	spermatogenic failure 1 Aliases: SPGF1 oligochiasmatic infertility oligosynaptic infertility	PDHA2	5161	Homo sapiens (human)	DisGeNET
DOID:0111910	spermatogenic failure Aliases: SPGF	PDHA2	5161	Homo sapiens (human)	Alliance of Genome Resources
DOID:743	dermatographia Aliases: dermatographic urticaria dermographism	PIGT	51604	Homo sapiens (human)	DisGeNET

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