GlyCosmos Portal

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:0090034	myoclonic dystonia 11	ALDH5A1	7915	Homo sapiens (human)	DisGeNET
DOID:0090058	torsion dystonia with onset in infancy	ALDH5A1	7915	Homo sapiens (human)	DisGeNET
DOID:0090042	torsion dystonia 17	ALDH5A1	7915	Homo sapiens (human)	DisGeNET
DOID:0060730	torsion dystonia 1 Aliases: dystonia musculorum deformans	ALDH5A1	7915	Homo sapiens (human)	DisGeNET
DOID:0090043	dystonia 5	ALDH5A1	7915	Homo sapiens (human)	DisGeNET
DOID:0090046	dystonia 21	ALDH5A1	7915	Homo sapiens (human)	DisGeNET
DOID:0090037	torsion dystonia 13	ALDH5A1	7915	Homo sapiens (human)	DisGeNET
DOID:0090041	torsion dystonia 4	ALDH5A1	7915	Homo sapiens (human)	DisGeNET
DOID:0090048	dystonia 16	ALDH5A1 PLA2G6	7915 8398	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0090057	X-linked dystonia-parkinsonism	ALDH5A1 PGK1	5230 7915	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0090056	dystonia 12	ALDH5A1 PLA2G6	7915 8398	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050629	Aicardi-Goutieres syndrome Aliases: AGS Cree encephalitis	CYP7A1 GAD2 GGT1 INPP5K PTGS2 TKTL1	1581 2572 2678 51763 5743 8277	Homo sapiens (human)	DisGeNET
DOID:0060230	basal ganglia calcification Aliases: Fahr disease	MYORG	57462	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050765	neuroacanthocytosis	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)	DisGeNET
DOID:0060161	Kennedy's disease Aliases: Kennedy disease SBMA Spinobulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy X-linked Spinal and Bulbar Muscular Atrophy spinal bulbar muscular atrophy	CERS6 GAPDH GFRA1 LDHA PRNP	253782 2597 2674 3939 5621	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0050256	angiostrongyliasis	LGALS2	3957	Homo sapiens (human)	DisGeNET
DOID:14239	gastrointestinal tularemia Aliases: Enteric tularemia intestinal tularaemia	MBL2	4153	Homo sapiens (human)	DisGeNET
DOID:0111029	hemochromatosis type 1 Aliases: HFE1 symptomatic form of HFE-related hereditary hemochromatosis symptomatic form of classic hemochromatosis symptomatic form of hemochromatosis type 1	ACO1 AKR1B1 AKR1D1 ALDH2 CALR CD14 FADS2 FUT1 FUT2 GNPAT GPC1 GPC3 GPC5 HJV HPGDS ICAM1 LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA3 SELE SELL STS SULT1E1 TUSC3 UGT1A1 VCAM1	148738 217 2262 231 2523 2524 2719 27306 2817 3383 3958 412 48 5290 5291 5293 5294 54658 6401 6402 6718 6783 7412 7991 80339 811 8443 929 9415	Homo sapiens (human)	DisGeNET DisGeNET
DOID:5325	Roberts syndrome Aliases: LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE RBS Roberts-Sc Phocomelia Syndrome SC phocomelia syndrome	MELTF SMC3	4241 9126	Homo sapiens (human)	DisGeNET
DOID:0050536	obsolete SC phocomelia syndrome Aliases: Hypomelia Hypotrichosis Facial hemangioma syndrome SC PSEUDOTHALIDOMIDE SYNDROME	MELTF SMC3	4241 9126	Homo sapiens (human)	DisGeNET
DOID:9768	heart aneurysm Aliases: cardiac aneurysm	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:13405	cardiac sarcoidosis	CALR SMUG1	23583 811	Homo sapiens (human)	DisGeNET
DOID:4737	somatoform disorder Aliases: physiological malfunction arising from mental factor psychophysiologic disorder psychosomatic disorder	ACE COMT	1312 1636	Homo sapiens (human)	DisGeNET
DOID:13918	somatization disorder Aliases: Briquet's disorder Somatisation disorder	ACE COMT	1312 1636	Homo sapiens (human)	DisGeNET
DOID:4988	alcoholic pancreatitis	ADH1B ADH1C ADH4 AKR1A1 ALDH2 CD14 CEL CYP2E1 HPGDS LPL UGT1A7	10327 1056 125 126 127 1571 217 27306 4023 54577 929	Homo sapiens (human)	DisGeNET Alliance of Genome Resources

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