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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 **7401 - 7425** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:10534	stomach cancer Aliases: gastric cancer gastric neoplasm	fut11 parp1 rgn	403070 560788 568888	Danio rerio (zebrafish)
DOID:2215	factor VII deficiency Aliases: deficiency, stable	LMAN1 MCFD2 NGLY1 PC	3998 5091 55768 90411	Homo sapiens (human)
DOID:9471	meningitis	Igf2	16002	Mus musculus (house mouse)
DOID:1338	congenital dyserythropoietic anemia Aliases: congenital dyshaematopoietic anaemia	CD44 G6PD GANC LMAN1 LPIN2 MAN2A1 MCFD2 MGAT2	2539 2595 3998 4124 4247 90411 960 9663	Homo sapiens (human)
DOID:0080573	congenital disorder of glycosylation Ix Aliases: congenital disorder of glycosylation 1x	Stt3B	43005	Drosophila melanogaster (fruit fly)
DOID:3907	lung squamous cell carcinoma Aliases: Epidermoid cell carcinoma of the lung	Idh1 Idh2	15926 269951	Mus musculus (house mouse)
DOID:3491	Turner syndrome Aliases: Bonnevie-Ullrich syndrome Gonadal dysgenesis - Turner Karyotype 45, X Monosomy X XO syndrome monosomy X syndrome	ASAH1 CAT CD38 CYP19A1 CYP21A2 GAPDH HSD17B4 INPPL1 MBL2 MOGS NT5E PCYT1A PGD RXYLT1 SMC3 SRD5A2	10329 1588 1589 2597 3295 3636 4153 427 4907 5130 5226 6716 7841 847 9126 952	Homo sapiens (human)
DOID:0081002	Cowden syndrome 6	Akt1	11651	Mus musculus (house mouse)
DOID:8369	adult malignant schwannoma Aliases: adult MPNST	CD44 CHSY1 IL1R1 SMUG1	22856 23583 3554 960	Homo sapiens (human)
DOID:0060589	Yunis-Varon syndrome Aliases: cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia cleidocranial dysplasia-micrognathia-absent thumbs syndrome	FIG4	9896	Homo sapiens (human)
DOID:12803	Sly syndrome Aliases: MPS VII - Sly syndrome beta-glucuronidase deficiency deficiency of beta-glucuronidase mucopolysaccharidosis VII	GUSB IDUA	2990 3425	Homo sapiens (human)
DOID:14400	capillary leak syndrome	CD22 ICAM1	3383 933	Homo sapiens (human)
DOID:6846	familial melanoma	BRAF	673	Homo sapiens (human)
DOID:3407	carotid artery disease Aliases: disorder of carotid artery	Nampt Pgf Tlr4 Ucp2	18654 21898 22228 59027	Mus musculus (house mouse)
DOID:2747	glycogen storage disease Aliases: glycogenosis	C14B9.8 gsy-1 gyg-2 pfk-1.1 pfk-1.2	174924 176149 179335 180119 180583	Caenorhabditis elegans
DOID:0110490	autosomal recessive nonsyndromic deafness 31 Aliases: DFNB31 autosomal recessive deafness 31	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:848	arthritis Aliases: Inflammatory disorder of joint	parp1	560788	Danio rerio (zebrafish)
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	EMI2 GLK1 HXK1 HXK2	850317 850614 852128 852639	Saccharomyces cerevisiae S288C
DOID:6595	gastric tubular adenocarcinoma Aliases: tubular adenocarcinoma of stomach	CBR1 PTGS2	5743 873	Homo sapiens (human)
DOID:0080564	congenital disorder of glycosylation Il Aliases: congenital disorder of glycosylation 1l	alg9.L	108696484	Xenopus laevis (African clawed frog)
DOID:2394	ovarian cancer Aliases: malignant Ovarian tumor malignant tumour of ovary ovarian neoplasm ovary neoplasm primary ovarian cancer tumor of the Ovary	akt1.S	399170	Xenopus laevis (African clawed frog)
DOID:0050156	idiopathic pulmonary fibrosis Aliases: FIBROCYSTIC PULMONARY DYSPLASIA IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL cryptogenic fibrosing alveolitis	parp-1	266823	Caenorhabditis elegans
DOID:0112380	muscular dystrophy-dystroglycanopathy type B2 Aliases: MDDGB2 congenital muscular dystrophy POMT2-related	tw	31024	Drosophila melanogaster (fruit fly)
DOID:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	R11F4.1	173747	Caenorhabditis elegans
DOID:5425	ovarian hyperstimulation syndrome Aliases: secondary Meig's syndrome	CD44 CHST3 CYP11A1 CYP19A1 LPL PTGS2	1583 1588 4023 5743 9469 960	Homo sapiens (human)

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