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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 **3476 - 3500** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:5847	posterior myocardial infarction	DLD	1738	Homo sapiens (human)
DOID:0080568	congenital disorder of glycosylation Iq Aliases: congenital disorder of glycosylation 1q	DOLK DPM1 MOGS MPDU1 MPI PMM2 SLC35A1 SRD5A3	10559 22845 4351 5373 7841 79644 8813 9526	Homo sapiens (human)
DOID:0080565	congenital disorder of glycosylation Im Aliases: DOLK-congenital disorder of glycosylation congenital disorder of glycosylation 1m dolichol kinase deficiency	DOLK	22845	Homo sapiens (human)
DOID:0080562	congenital disorder of glycosylation Ij Aliases: Congenital disorder of glycosylation 1j	DPAGT1	1798	Homo sapiens (human)
DOID:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	DPAGT1	1798	Homo sapiens (human)
DOID:0111512	metachondromatosis Aliases: METCDS	DPEP1 EXT1 EXT2	1800 2131 2132	Homo sapiens (human)
DOID:4997	Camurati-Engelmann disease Aliases: Diaphyseal dysplasia Engelman's disease progressive diaphyseal dysplasia	DPEP1 LGALS1 TBXAS1 TMEM165	1800 3956 55858 6916	Homo sapiens (human)
DOID:13677	SAPHO syndrome Aliases: Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome	DPEP1 LPIN2 SMUG1	1800 23583 9663	Homo sapiens (human)
DOID:1791	peritoneal carcinoma Aliases: primary peritoneal carcinoma	DPEP1 PARP1 PARP2 PTEN TYMP	10038 142 1800 1890 5728	Homo sapiens (human)
DOID:9957	periostitis	DPEP1	1800	Homo sapiens (human)
DOID:8946	severe nonproliferative diabetic retinopathy Aliases: High risk non proliferative diabetic retinopathy Severe NPDR	DPEP1	1800	Homo sapiens (human)
DOID:0080571	congenital disorder of glycosylation Iu Aliases: congenital disorder of glycosylation 1u	DPM2	8818	Homo sapiens (human)
DOID:0112376	muscular dystrophy-dystroglycanopathy type B15 Aliases: MDDGB15 congenital muscular dystrophy DPM3-related	DPM3	54344	Homo sapiens (human)
DOID:0111156	spermatogenic failure 9 Aliases: globozoospermia male infertility due to round-headed spermatozoa	DPY19L2	283417	Homo sapiens (human)
DOID:0080737	Ehlers-Danlos syndrome musculocontractural type 2	DSE	29940	Homo sapiens (human)
DOID:3227	tracheal stenosis Aliases: Stenosis of trachea	EBP IDUA	10682 3425	Homo sapiens (human)
DOID:0060613	X-linked cleft palate with or without ankyloglossia Aliases: X-linked cleft palate and ankyloglossia	EBP PGK1	10682 5230	Homo sapiens (human)
DOID:5363	myxoid liposarcoma Aliases: Myxoid/round cell liposarcoma	EBP PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	10682 23583 5290 5291 5293 5294	Homo sapiens (human)
DOID:5709	mixed-type liposarcoma	EBP PIK3CA PIK3CB PIK3CD PIK3CG	10682 5290 5291 5293 5294	Homo sapiens (human)
DOID:0060604	ankyloglossia Aliases: tongue-tie	EBP	10682	Homo sapiens (human)
DOID:0111865	MEND syndrome Aliases: male EBP disorder with neurological defects	EBP	10682	Homo sapiens (human)
DOID:14224	tracheal calcification Aliases: Calcification of trachea	EBP	10682	Homo sapiens (human)
DOID:0090045	childhood onset GLUT1 deficiency syndrome 2	ECHS1 SLC2A1	1892 6513	Homo sapiens (human)
DOID:3255	botryoid rhabdomyosarcoma Aliases: Botryoid sarcoma Botryoid-type Embryonal Rhabdomyosarcoma sarcoma botryoides	EFNA1 HPSE ICAM1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMPD1	10855 142 1942 3383 5290 5291 5293 5294 5728 6609	Homo sapiens (human)
DOID:3246	embryonal rhabdomyosarcoma	EFNA1 HPSE ICAM1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMPD1	10855 142 1942 3383 5290 5291 5293 5294 5728 6609	Homo sapiens (human)

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