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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 **451 - 475** of **7942** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism
DOID:1062	Fanconi syndrome Aliases: Congenital Fanconi syndrome De Toni-Fanconi syndrome Fanconi-de Toni syndrome Fanconi-de-Toni syndrome Infantile nephropathic cystinosis Lignac-Fanconi syndrome adult Fanconi Anemia adult Fanconi syndrome deToni Fanconi syndrome	AGPAT2 CTNS CYP51A1 EHHADH GPX3 IGF2R NAGLU OCRL SLC2A2 SLC5A1 VNN1 VNN2	10555 1497 1595 1962 2878 3482 4669 4952 6514 6523 8875 8876	Homo sapiens (human)
DOID:0050464	Farber lipogranulomatosis Aliases: Farber disease N-laurylsphingosine deacylase deficiency acid ceramidase deficiency	ASAH1 GALC PSAP	2581 427 5660	Homo sapiens (human)
DOID:11042	Felty's syndrome Aliases: Felty syndrome Rheumatoid arthritis with splenoadenomegaly and leukopenia	B3GAT1	27087	Homo sapiens (human)
DOID:0060448	Fleck corneal dystrophy Aliases: FCD Francois-Neetens speckled corneal dystrophy	FCN2 FOLR2 GCDH PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE SMUG1 UGT1A4	200576 2220 2350 23583 2639 5290 5291 5293 5294 54657	Homo sapiens (human)
DOID:14555	Foster-Kennedy syndrome	ACO2 AGXT CYP1B1 PRPS1 PTEN	1545 189 50 5631 5728	Homo sapiens (human)
DOID:0111405	Fraser syndrome 1 Aliases: FRASRS1	FREM1 NT5E	158326 4907	Homo sapiens (human)
DOID:0090001	Fraser syndrome Aliases: cryptophthalmos with other malformations	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:0111180	French Canadian Leigh disease Aliases: French Canadian type COX deficiency French Canadian type Leigh syndrome French Canadian type cytochrome c oxidase deficiency Saguenay Lac saint Jean type COX deficiency Saguenay Lac saint Jean type Leigh syndrome mitochondrial complex IV deficiency nuclear type 5	PTGS1	5742	Homo sapiens (human)
DOID:0111218	Friedreich ataxia 1 Aliases: FA1 FRDA1	ACO2 CAT GAA GPAA1 GPX1 HPGDS ICAM1 LPL PIP5K1B PRKAA2 VCAM1	2548 27306 2876 3383 4023 50 5563 7412 8395 847 8733	Homo sapiens (human)
DOID:12705	Friedreich ataxia Aliases: Friedreich's ataxia Friedreich's tabes	ACO2 CAT COG5 DLD GAA GPAA1 GPX1 HPGDS HSD17B4 ICAM1 LPL PIP5K1B PRKAA2 PRNP PTGS2 VCAM1	10466 1738 2548 27306 2876 3295 3383 4023 50 5563 5621 5743 7412 8395 847 8733	Homo sapiens (human)
DOID:6676	Froelich syndrome Aliases: Babinski-Froelich syndrome Froehlich syndrome Froehlich's syndrome Froelich's syndrome adiposogenital syndrome	CYP17A1	1586	Homo sapiens (human)
DOID:11555	Fuchs' endothelial dystrophy Aliases: FCED Fuchs' corneal dystrophy Fuchs' endothelial corneal dystrophy	NEIL1 PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294 79661	Homo sapiens (human)
DOID:0050559	Fukuyama congenital muscular dystrophy	fktn	100124956	Xenopus tropicalis (tropical clawed frog)
DOID:0050559	Fukuyama congenital muscular dystrophy	B3GALNT2 B4GAT1 CD109 CRPPA DAG1 FKRP FKTN GMPPB LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1	10329 10585 11041 135228 148789 1605 2218 29925 29954 55624 729920 79147 84197 84892 9215	Homo sapiens (human)
DOID:0050559	Fukuyama congenital muscular dystrophy	T07A5.1 T07D3.4 W02B3.4	173469 188207 189104	Caenorhabditis elegans
DOID:0050559	Fukuyama congenital muscular dystrophy	fktn.S	495324	Xenopus laevis (African clawed frog)
DOID:0050559	Fukuyama congenital muscular dystrophy	fktn	100006345	Danio rerio (zebrafish)
DOID:0050559	Fukuyama congenital muscular dystrophy	Dg	36773	Drosophila melanogaster (fruit fly)
DOID:0050559	Fukuyama congenital muscular dystrophy	Fktn	362520	Rattus norvegicus (Norway rat)
DOID:0050559	Fukuyama congenital muscular dystrophy	Fktn	246179	Mus musculus (house mouse)
DOID:0060174	GABA aminotransferase deficiency Aliases: Gamma-amino butyric acid transaminase deficiency gamma-aminobutyric acid transaminase deficiency	ABAT	18	Homo sapiens (human)
DOID:0080502	GM1 gangliosidosis type 1	ARSA CHIT1 CTSA CYP2U1 GLB1 NEU1	1118 113612 2720 410 4758 5476	Homo sapiens (human)
DOID:0080502	GM1 gangliosidosis type 1	Glb1	12091	Mus musculus (house mouse)
DOID:0080501	GM1 gangliosidosis type 2 Aliases: juvenile GM1 gangliosidosis	Glb1	12091	Mus musculus (house mouse)
DOID:0080501	GM1 gangliosidosis type 2 Aliases: juvenile GM1 gangliosidosis	GLB1	2720	Homo sapiens (human)

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