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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2326 - 2350** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:3347	osteosarcoma Aliases: Osteogenic sarcoma Skeletal sarcoma bone tissue neoplasm osteoid sarcoma	Ptp10D	32115	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112105	X-linked parkinsonism-spasticity syndrome Aliases: X-linked Parkinsonism with spasticity XPDS	ATP6AP2	41104	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080490	mucolipidosis type IV	MCOLN1 MCOLN3	55283 57192	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080584	autosomal dominant Wolfram syndrome	WFS1	7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080564	congenital disorder of glycosylation Il Aliases: congenital disorder of glycosylation 1l	ALG9	855502	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1584	acute chest syndrome Aliases: acute chest syndrome in sickle cell disease	vegfaa	30682	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0081023	retinal cone dystrophy 4	CACNA2D4	93589	Homo sapiens (human)	Alliance of Genome Resources
DOID:2978	carbohydrate metabolic disorder Aliases: disorder of carbohydrate transport and metabolism inborn carbohydrate metabolism disorder inborn errors of carbohydrate metabolism	Mpi Taldo1 Tpi1	110119 21351 21991	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8557	oropharynx cancer Aliases: Oropharyngeal carcinoma malignant Oropharyngeal tumor malignant tumor of oropharynx malignant tumour of mesopharynx oropharyngeal cancer	Ern1	78943	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050591	tooth agenesis Aliases: familial tooth agenesis hypodontia oligodontia selective tooth agenesis	BMP2 BMP4 EDA GREM2 LRP6 TSPEAR WNT10A WNT10B	1896 4040 54084 64388 650 652 7480 80326	Homo sapiens (human)	Alliance of Genome Resources
DOID:12932	endomyocardial fibrosis Aliases: African endomyocardial fibrosis Becker's disease Endomyocardial sclerosis obscure African cardiomyopathy	ace	565980	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080209	sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay Aliases: SIFD	TRNT1	51095	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110681	congenital myasthenic syndrome 2A Aliases: CMS2A congenital myasthenic syndrome 2A slow-channel	Chrnb1	24261	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060287	cornea plana Aliases: flat cornea	KERA	11081	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110007	achromatopsia 2 Aliases: ACHM2 RMCH2 rod monochromacy 2 rod monochromatism 2	CngA	36806	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2527	nephrosis	Acer Ance Snmp1 Snmp2	34189 34805 38868 42514	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3211	lysosomal storage disease Aliases: disorder of lysosomal enzyme inborn lysosomal enzyme disorder lysosomal storage metabolism disorder	AGA CTSA GGA2 GGA3 GLA HEXB MITF PSAP PSAPL1 SLC17A5 SLC66A1 TFE3 TFEB VPS16	175 23062 23163 26503 2717 3074 4286 5476 54896 5660 64601 7030 768239 7942	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080201	Peters plus syndrome Aliases: Krause-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome	CG9109	33844	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2987	familial mediterranean fever Aliases: FMF benign paroxysmal peritonitis	W01C8.5 acn-1 pgp-1 pgp-3 srp-3	178215 178672 180780 180836 181326	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0090134	complex cortical dysplasia with other brain malformations 3 Aliases: CDCBM3	KIF2A	3796	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080436	developmental and epileptic encephalopathy 4 Aliases: DEE4 early infantile epileptic encephalopathy 4	STXBP1	6812	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111686	hereditary mixed polyposis syndrome 2 Aliases: HMPS2	Bmpr1a	81507	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060290	Ohdo syndrome, SBBYS variant Aliases: Say-Barber-Biesecker-Young-Simpson syndrome blepharophimosis-intellectual disability syndrome, SBBYS type	Kat6b	54169	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050831	familial encephalopathy with neuroserpin inclusion bodies Aliases: FENIB	Spn27A Spn42Dd Spn88Ea	45815 49804 49808	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	prtfdc1	100124954	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources

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