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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 **2976 - 3000** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0111041	glycogen storage disease IXb Aliases: GSD IXb GSD due to liver and muscle phosphorylase kinase deficiency GSD type 9B GSD type IXb GSD9B glycogen storage disease type 9B glycogen storage disease type IXb glycogenosis due to liver and muscle phosphorylase kinase deficiency glycogenosis type 9B glycogenosis type IXb	ACADM AGL ALDOA APRT EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 GAA GBE1 GLA GYG1 GYG2 GYS2 HADHA LDHA MGAM PFKL PFKM PGAM2 PGK1 PGM1 PHKB PYGM SI SLC2A2 SLC37A4	178 1962 2027 2203 226 2538 2542 2548 2632 2717 2992 2998 3030 34 353 3939 5211 5213 5224 5230 5236 5257 57818 5837 6476 6514 7957 8908 8972 92579	Homo sapiens (human)
DOID:0111043	glycogen storage disease IXc Aliases: GSD type 9C GSD type IXc GSD9C glycogen storage disease type 9C glycogen storage disease type IXc glycogenosis type 9C glycogenosis type IXc	ACADM AGL ALDOA APRT EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 GAA GBE1 GLA GYG1 GYG2 GYS2 HADHA LDHA MGAM PFKL PFKM PGAM2 PGK1 PGM1 PHKG2 PYGM SI SLC2A2 SLC37A4	178 1962 2027 2203 226 2538 2542 2548 2632 2717 2992 2998 3030 34 353 3939 5211 5213 5224 5230 5236 5261 57818 5837 6476 6514 7957 8908 8972 92579	Homo sapiens (human)
DOID:2748	glycogen storage disease III Aliases: Glycogen storage disease 3 Glycogen storage disease, type III amylo 1,6 glucosidase deficiency deficiency of debranching enzyme deficiency of dextrin	AGL G6PC1 GAA GBE1 GYS2 PYGL	178 2538 2548 2632 2998 5836	Homo sapiens (human)
DOID:9111	cutaneous leishmaniasis Aliases: Asian Desert Cutaneous Leishmaniasis Leproid leishmaniasis diffuse cutaneous leishmaniasis	CAT CLEC7A DPAGT1 FCN2 FDPS FH G6PD PGD PNP SLC5A1 TLR2 TLR4 TNF	1798 2220 2224 2271 2539 4860 5226 64581 6523 7097 7099 7124 847	Homo sapiens (human)
DOID:1142	alternating exotropia	ACADSB DPAGT1 HADHA NGLY1 PIGQ PRPS1 SLC17A5 SLC35A2	1798 26503 3030 36 55768 5631 7355 9091	Homo sapiens (human)
DOID:1143	exotropia Aliases: Divergent Strabismus Divergent concomitant strabismus	ACADSB DPAGT1 HADHA NGLY1 PIGQ PRPS1 SLC17A5 SLC35A2	1798 26503 3030 36 55768 5631 7355 9091	Homo sapiens (human)
DOID:11853	monocular exotropia	ACADSB DPAGT1 HADHA NGLY1 PIGQ PRPS1 SLC17A5 SLC35A2	1798 26503 3030 36 55768 5631 7355 9091	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:0050562	West syndrome	ABAT ALG13 CACNA2D1 HIBCH HSD17B4 NGLY1 PAFAH1B1 PDHA1 PIGA PIGP PIGQ PIGW PLCB1 PMM2 RFT1 SLC35A2 ST3GAL3	18 23236 26275 284098 3295 5048 51227 5160 5277 5373 55768 6487 7355 781 79868 9091 91869	Homo sapiens (human)
DOID:0060174	GABA aminotransferase deficiency Aliases: Gamma-amino butyric acid transaminase deficiency gamma-aminobutyric acid transaminase deficiency	ABAT	18	Homo sapiens (human)
DOID:0111512	metachondromatosis Aliases: METCDS	DPEP1 EXT1 EXT2	1800 2131 2132	Homo sapiens (human)
DOID:1920	hyperuricemia Aliases: Blood urate raized uricacidemia	ACAT1 ALDH2 ALDOB CAT DPEP1 FBP1 G6PC1 HAS2 HMGCL HPRT1 INS KHK PC PFKM PLA2G7 PNP PRPS1 SLC37A4 UMOD	1800 217 2203 229 2538 2542 3037 3155 3251 3630 3795 38 4860 5091 5213 5631 7369 7941 847	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:0060706	X-linked lymphoproliferative syndrome 2 Aliases: XIAP deficiency XLP2	ALPI ALPP CD1D DPEP1 FUT1 HPGDS HPRT1 PLCG1	1800 248 250 2523 27306 3251 5335 912	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:0060178	familial hemiplegic migraine	ATP1A2 DPEP1 PMM2 PRKCSH	1800 477 5373 5589	Homo sapiens (human)
DOID:0111182	familial hemiplegic migraine 2 Aliases: FHM2 Familial hemiplegic migraine-2 MHP2	ATP1A2 DPEP1	1800 477	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:3081	cystic lymphangioma Aliases: cystic Hygroma	LPL PIK3CA SLC26A2 TGDS	1836 23483 4023 5290	Homo sapiens (human)
DOID:12175	dyshormonogenic goiter Aliases: dyshormonogenic goitre	ALDH7A1 PTGDS SLC26A2	1836 501 5730	Homo sapiens (human)
DOID:0060744	Pendred Syndrome Aliases: TDH2B congenital hypothyroidism due to dyshormonogenesis 2B deafness with goiter genetic defect in thyroid hormonogenesis 2B goiter-deafness syndrome thyroid dyshormonogenesis 2B	ALDH7A1 PTGDS SLC26A2	1836 501 5730	Homo sapiens (human)
DOID:11527	laryngostenosis Aliases: Stenosis of larynx	FIG4 GLT8D1 SLC26A2	1836 55830 9896	Homo sapiens (human)
DOID:2742	auditory system disease Aliases: ear and mastoid disease	CD14 SLC26A2	1836 929	Homo sapiens (human)

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