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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 **7876 - 7900** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:3355	fibrosarcoma Aliases: Fibrocytic tumor fibrosarcoma of soft tissue fibrous tissue neoplasm	CDC42 TNFRSF1A	7132 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:1911	endodermal sinus tumor Aliases: Hepatoid yolk sac tumour Yolk Sac neoplasm Yolk sac tumour endodermal sinus tumour infantile embryonal carcinoma yolk sac tumor	wnt2b.L	378566	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0111562	overhydrated hereditary stomatocytosis Aliases: OHS potassium sodium disorder of erythrocyte stomatocytosisIOHST	Rhag	65207	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2152	ovary epithelial cancer Aliases: Ovarian Surface epithelial-Stromal tumor	ost-1	176931	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111827	X-linked spinal muscular atrophy 2 Aliases: SMAX2 X-linked distal arthrogryposis multiplex congenita X-linked spinal muscular atrophy type 2 infantile-onset X-linked spinal muscular atrophy spinal muscular atrophy with arthrogryposis	UBA1	7317	Homo sapiens (human)	Alliance of Genome Resources
DOID:2450	central retinal vein occlusion	Proc Serpinf1	19123 20317	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110629	Wolfram syndrome 1 Aliases: DIDMOAD WFS1 diabetes mellitus AND insipidus with optic atrophy AND deafness	wfs1	42679	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1024	leprosy	Lta Slc11a1 Tnf	24835 25008 316519	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081112	Baraitser-Winter syndrome 1	Acta1 Acta2 Actb Actbl2 Actc1 Actg1	11459 11461 11464 11465 11475 238880	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111975	immunodeficiency 44 Aliases: IMD44	STAT2	6773	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060178	familial hemiplegic migraine	Atp1a2 Atp1a3 Cacna1a	24212 24213 25398	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110591	autosomal dominant nonsyndromic deafness 7 Aliases: DFNA7 autosomal dominant deafness 7	LMX1A	4009	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050861	colorectal adenocarcinoma	fgfr2 kdr rnaset2 tpst1	30677 352940 554230 791890	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0081188	autosomal recessive intellectual developmental disorder 14	Tecr	106529	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112202	developmental and epileptic encephalopathy	Dnm1 Kcnh5 Sv2a	117559 140694 171146	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1171	hyperlipoproteinemia type V Aliases: Fredrickson type V lipaemia familial hyperlipoproteinemia type V familial type 5 hyperlipoproteinemia	APOA5	116519	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080050	acromesomelic dysplasia, Maroteaux type Aliases: acromesomelic dysplasia-1	NPR2	4882	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050831	familial encephalopathy with neuroserpin inclusion bodies Aliases: FENIB	Serpine1 Serpine2 Serpini1	116459 24617 29366	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060740	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Aliases: methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria mut type vitamin B12-unresponsive methylmalonic aciduria	MMUT	4594	Homo sapiens (human)	Alliance of Genome Resources
DOID:9255	frontotemporal dementia Aliases: Wilhemsen-Lynch disease frontotemporal lobar degeneration multiple system tauopathy with presenile dementia pallidopontonigral degeneration	Bace2 Grn Nefl Ubqln2	288227 29143 317396 83613	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110440	dilated cardiomyopathy 1J Aliases: CMD1J autosomal dominant dilated cardiomyopathy with sensorineural hearing loss neurosensory deafness with dilated cardiomyopathy neurosensory hearing loss with dilated cardiomyopathy sensorineural deafness with dilated cardiomyopathy sensorineural hearing loss with dilated cardiomyopathy	EYA4	2070	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060650	dicarboxylic aminoaciduria Aliases: glutamate-aspartate transport defect	Slc1a1	20510	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14159	obstructive hydrocephalus	Myo9a	270163	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2590	familial nephrotic syndrome Aliases: Congenital nephrotic syndrome	epi-1	177956	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070469	neurodevelopmental disorder with dysmorphic facies and thin corpus callosum Aliases: NEDDFAC	Supt16	114741	Mus musculus (house mouse)	Alliance of Genome Resources

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