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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 **2151 - 2175** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:0050841	focal hand dystonia Aliases: organic writer's cramp	ALDH5A1 AMT ARSG ASAH1 ATP6V1A CERS1 CLN5 CNTN2 COG8 CYP27A1 CYP2C19 CYP2U1 DBT DHDDS DLAT DPEP1 ECHS1 EPM2A GAD1 GBA1 GCDH GCSH GLB1 GLDC GLYCTK GPI HIBCH HMGCL HPRT1 HSPG2 ISYNA1 MECR MMUT NAGA NEU1 NGLY1 PDHA1 PGAP2 PGAP3 PIGA PIGL PIGN PIGO PIGP PIGQ PIGV PIGW PIGY PIK3C2A PLA2G6 PLB1 PLCB1 POMGNT1 PPT1 PRNP PSAP RFT1 SC5D SCP2 SDHA SDHD SLC39A8 SMUG1 ST3GAL3 ST3GAL5 SUCLA2 SYNJ1	10715 113612 1203 132158 151056 1557 1593 1629 1737 1800 1892 22901 23236 23556 23583 2571 26275 2629 2639 2653 2720 2731 27315 275 2821 284098 3155 3251 3339 427 4594 4668 4758 51102 51227 51477 5160 523 5277 5286 5538 55624 55650 55768 5621 5660 6309 6342 6389 6392 64116 6487 6900 7915 7957 79947 8398 84342 84720 84992 8803 8867 8869 9091 91869 93210 9487	Homo sapiens (human)
DOID:0050835	generalized dystonia Aliases: familial dystonia fragments of torsion dystonia	ALDH5A1 ARSG CYP2U1 DBT DPEP1 ECHS1 GAD1 GCDH GLB1 GPI HIBCH MECR PDHA1 PLA2G6 SCP2 SLC39A8 SMUG1 SUCLA2	113612 1629 1800 1892 22901 23583 2571 26275 2639 2720 2821 51102 5160 6342 64116 7915 8398 8803	Homo sapiens (human)
DOID:0050836	focal dystonia	ALDH5A1 ARSG PLA2G6	22901 7915 8398	Homo sapiens (human)
DOID:1827	idiopathic generalized epilepsy Aliases: Generalised epilepsy	ALDH5A1 ASAH1 CACNA2D2 GAD2 GLDC GMPPB MCAT ME2 NPL SLC2A3	2572 2731 27349 29925 4200 427 6515 7915 80896 9254	Homo sapiens (human)
DOID:0060478	Zika fever Aliases: Zika virus disease	ALDH5A1 B3GAT1 CAT CD14 CD48 CH25H FCGR3B GAPDH GNE ISYNA1 MOGS PARP12 PARP1 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG RPE SELP SMPD3 SOAT1	10020 142 2215 2597 27087 2923 51477 5290 5291 5293 5294 55512 6120 6403 64761 6646 7841 7915 847 9023 929 962	Homo sapiens (human)
DOID:4890	juvenile myoclonic epilepsy	ALDH5A1 EXT1 NPL	2131 7915 80896	Homo sapiens (human)
DOID:0060170	generalized epilepsy with febrile seizures plus Aliases: GEFS+	ALDH5A1 ME2 NPL	4200 7915 80896	Homo sapiens (human)
DOID:0090057	X-linked dystonia-parkinsonism	ALDH5A1 PGK1	5230 7915	Homo sapiens (human)
DOID:0090048	dystonia 16	ALDH5A1 PLA2G6	7915 8398	Homo sapiens (human)
DOID:0090056	dystonia 12	ALDH5A1 PLA2G6	7915 8398	Homo sapiens (human)
DOID:0090043	dystonia 5	ALDH5A1	7915	Homo sapiens (human)
DOID:0090038	torsion dystonia 2	ALDH5A1	7915	Homo sapiens (human)
DOID:0090050	dystonia 27	ALDH5A1	7915	Homo sapiens (human)
DOID:0090058	torsion dystonia with onset in infancy	ALDH5A1	7915	Homo sapiens (human)
DOID:0090039	torsion dystonia 6	ALDH5A1	7915	Homo sapiens (human)
DOID:0090046	dystonia 21	ALDH5A1	7915	Homo sapiens (human)
DOID:0090055	dystonia 25	ALDH5A1	7915	Homo sapiens (human)
DOID:0090042	torsion dystonia 17	ALDH5A1	7915	Homo sapiens (human)
DOID:0090041	torsion dystonia 4	ALDH5A1	7915	Homo sapiens (human)
DOID:0060730	torsion dystonia 1 Aliases: dystonia musculorum deformans	ALDH5A1	7915	Homo sapiens (human)
DOID:0090037	torsion dystonia 13	ALDH5A1	7915	Homo sapiens (human)
DOID:0090034	myoclonic dystonia 11	ALDH5A1	7915	Homo sapiens (human)
DOID:9252	amino acid metabolic disorder Aliases: inborn errors of amino acid metabolism	ALDH6A1 GCSH GLUL HMGCL PCCA PCCB	2653 2752 3155 4329 5095 5096	Homo sapiens (human)
DOID:11088	asphyxia neonatorum Aliases: Asphyxia - birth Asphyxia, in liveborn infant Birth asphyxia postnatal asphyxia	ALDH7A1 ALG8 CAT ENO2 HSD11B2 MTMR14 PDIA3 PTGS2	2026 2923 3291 501 5743 64419 79053 847	Homo sapiens (human)
DOID:14213	hypophosphatasia Aliases: deficiency of alkaline phosphatase	ALDH7A1 ALPL ALPP ATRNL1 PIGT	249 250 26033 501 51604	Homo sapiens (human)

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