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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 **7901 - 7925** of **7942** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:0080122	Alpers-Huttenlocher syndrome Aliases: Alper's syndrome Alpers disease Alpers progressive infantile poliodystrophy Alpers syndrome Alpers' disease or gray-matter degeneration Diffuse Cerebral Sclerosis of Schilder mitochondrial DNA depletion syndrome 4a progressive sclerosing poliodystrophy	PRNP	5621	Homo sapiens (human)
DOID:4252	Alexander disease Aliases: Alexander's disease	CD38 CHI3L1	1116 952	Homo sapiens (human)
DOID:0080053	Albright's hereditary osteodystrophy Aliases: Albright hereditary osteodystrophy pseudohypoparathyroidism type 1a	APRT ASAH1 GPC1	2817 353 427	Homo sapiens (human)
DOID:0050630	Aland Island eye disease Aliases: FORSIUS-ERIKSSON TYPE OCULAR ALBINISM Forsius-Eriksson syndrome	GK	2710	Homo sapiens (human)
DOID:9245	Alagille syndrome Aliases: Alagille-Watson syndrome Arteriohepatic dysplasia	GGT1 NAAA	2678 27163	Homo sapiens (human)
DOID:9245	Alagille syndrome Aliases: Alagille-Watson syndrome Arteriohepatic dysplasia	N	31293	Drosophila melanogaster (fruit fly)
DOID:0050629	Aicardi-Goutieres syndrome Aliases: AGS Cree encephalitis	CYP7A1 GAD2 GGT1 INPP5K PTGS2 TKTL1	1581 2572 2678 51763 5743 8277	Homo sapiens (human)
DOID:13774	Addison's disease Aliases: Addison disease Addison disease, chronic adrenal insufficiency HYPOADRENOCORTICISM, FAMILIAL primary adrenocortical insufficiency primary hypoadrenalism	CD14 CLEC16A CYP11A1 CYP11B1 CYP17A1 CYP21A2 CYP27B1 CYP2B6 GAD2 GLUL GMPPA HSD11B1 HSD17B4 LIPA MICA PLA2G2A SGPL1 TM7SF2 UGT2B28	100507436 1555 1583 1584 1586 1589 1594 23274 2572 2752 29926 3290 3295 3988 5320 54490 7108 8879 929	Homo sapiens (human)
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	eogt	780148	Xenopus tropicalis (tropical clawed frog)
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	Eogt N	31293 33424	Drosophila melanogaster (fruit fly)
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	Eogt	101351	Mus musculus (house mouse)
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	EOGT	285203	Homo sapiens (human)
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	eogt	798087	Danio rerio (zebrafish)
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	H12D21.10	179990	Caenorhabditis elegans
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	Eogt	494219	Rattus norvegicus (Norway rat)
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	eogt.L	443983	Xenopus laevis (African clawed frog)
DOID:0050763	ARC syndrome Aliases: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome Arthrogryposis-renal dysfunction-cholestasis	ALPL GGT1	249 2678	Homo sapiens (human)
DOID:0080952	AMED syndrome Aliases: AMEDS	ADH5	128	Homo sapiens (human)
DOID:7004	ACTH-secreting pituitary adenoma Aliases: ACTH-Producing Pituitary Adenoma Corticotroph adenoma Corticotropinoma	CD14 CNTN3 CYP11B1 GAPDH HSD11B1 HSD11B2 SMUG1	1584 23583 2597 3290 3291 5067 929	Homo sapiens (human)
DOID:14448	46,XY sex reversal Aliases: 46 XY gonadal dysgenesis Pure gonadal dysgenesis 46,XY Swyer syndrome	AKR1B1 AKR1C2 AKR1C4 CAT CYP11A1 CYP11B1 CYP11B2 GPX2 HPSE LPIN1 PGD PLCB4 PLCE1 PTGS2	10855 1109 1583 1584 1585 1646 231 23175 2877 51196 5226 5332 5743 847	Homo sapiens (human)
DOID:0111773	46,XY sex reversal 8 Aliases: SRXY8 TDD male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase	GCY1 YPR1	851974 854287	Saccharomyces cerevisiae S288C
DOID:0111773	46,XY sex reversal 8 Aliases: SRXY8 TDD male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase	AKR1C2 AKR1C4	1109 1646	Homo sapiens (human)
DOID:0060417	3p deletion syndrome Aliases: chromosome 3pter-P25 deletion syndrome distal monosomy 3p	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0060225	3MC syndrome Aliases: craniofacial-ulnar-renal syndrome oculopalatoskeletal syndrome	COLEC10 COLEC11 MASP1	10584 5648 78989	Homo sapiens (human)
DOID:0060577	3MC syndrome 3	COLEC10 COLEC11 MASP1	10584 5648 78989	Homo sapiens (human)

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