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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:0050949	autosomal recessive hypophosphatemic rickets	ENPP1 GALNT3 IDUA	2591 3425 5167	Homo sapiens (human)
DOID:0110698	hypotrichosis 1 Aliases: Hhs Hts Hypt1 hereditary generalized hypotrichosis simplex	GALNT3 LSS	2591 4047	Homo sapiens (human)
DOID:13401	angioid streaks	ENPP1 GALNT3 PIK3CA PTEN XYLT1 XYLT2	2591 5167 5290 5728 64131 64132	Homo sapiens (human)
DOID:2729	dyskeratosis congenita Aliases: DKCD	GALNT3 GOLPH3 HPSE2 TECR TP53	2591 60495 64083 7157 9524	Homo sapiens (human)
DOID:0070025	X-linked dyskeratosis congenita Aliases: DKCX Zinsser-Cole-Engman syndrome	GALNT3 GOLPH3	2591 64083	Homo sapiens (human)
DOID:0050834	CHARGE syndrome Aliases: CHARGE association	GALNT3 TP53	2591 7157	Homo sapiens (human)
DOID:11189	pulp degeneration	GALNT3	2591	Homo sapiens (human)
DOID:5608	dental pulp calcification Aliases: pulp calcification pulp calcifications pulpal calcifications	GALNT3	2591	Homo sapiens (human)
DOID:4163	ganglioneuroblastoma	CD44 GAPDH LGALS3 NCAM1 SIGLEC7	2597 27036 3958 4684 960	Homo sapiens (human)
DOID:2047	hepatitis D Aliases: delta hepatitis	B3GAT1 GAPDH SLC35A2 SOAT1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	2597 27087 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 6646 7355	Homo sapiens (human)
DOID:0050827	rheumatic heart disease Aliases: rheumatic carditis	CD209 GAPDH	2597 30835	Homo sapiens (human)
DOID:5392	acidophil adenoma Aliases: Eosinophil adenoma	GAPDH HSD11B1	2597 3290	Homo sapiens (human)
DOID:14064	acute poststreptococcal glomerulonephritis Aliases: Post-Streptococcal Glomerulonephritis	GAPDH MBL2	2597 4153	Homo sapiens (human)
DOID:9598	fasciitis	GAPDH PTGS2	2597 5743	Homo sapiens (human)
DOID:0060108	brain glioma Aliases: lower grade glioma	GAPDH	2597	Homo sapiens (human)
DOID:0111380	solitary median maxillary central incisor Aliases: SMMCI fused incisors single central maxillary incisor single median maxillary central incisor single upper central incisor	GAS1	2619	Homo sapiens (human)
DOID:9835	refractive error	B3GAT3 PCCA	26229 5095	Homo sapiens (human)
DOID:10440	mycotic corneal ulcer	CD209 CLEC4E CLEC7A ICAM1	26253 30835 3383 64581	Homo sapiens (human)
DOID:0060787	hypomyelinating leukodystrophy 2 Aliases: HLD2 PMLD1 Pelizaeus-Merzbacher-like disease 1 Pelizaeus-Merzbacher-like disease due to GJC2 mutation	GBA1 PI4KA	2629 5297	Homo sapiens (human)
DOID:0110961	atypical Gaucher's disease due to saposin c deficiency	GBA1 PSAP	2629 5660	Homo sapiens (human)
DOID:900	hepatopulmonary syndrome	GBA1 PTEN PTGS2 TNF	2629 5728 5743 7124	Homo sapiens (human)
DOID:0060791	hypomyelinating leukodystrophy 9 Aliases: HLD9 RARS-related autosomal recessive hypomyelinating leukodystrophy	GBA1	2629	Homo sapiens (human)
DOID:0110960	Gaucher's disease perinatal lethal Aliases: Fetal Gaucher Disease Gaucher Disease, Collodion Type	GBA1	2629	Homo sapiens (human)
DOID:0090111	PCWH syndrome Aliases: Neurologic Waardenburg-Shah syndrome PCWH Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome	GBA1	2629	Homo sapiens (human)
DOID:0060798	hypomyelinating leukodystrophy 6 Aliases: H-ABC HABC HLD6 hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum hypomyelination with atrophy of basal ganglia and cerebellum	GBA1	2629	Homo sapiens (human)

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