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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 **10351 - 10375** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0081441	Nicolaides-Baraitser syndrome Aliases: Intellectual disability-sparse hair-brachydactyly syndrome SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME	Smarca4	20586	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070218	familial hyperinsulinemic hypoglycemia 2 Aliases: Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency HHF2 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia	Kcnj11	16514	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070413	autosomal recessive spinocerebellar ataxia 32 Aliases: SCAR32	Prdx3	11757	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060674	catecholaminergic polymorphic ventricular tachycardia	Trdn	76757	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11702	dysgammaglobulinemia	Cd40lg Ung	21947 22256	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:6688	autoimmune lymphoproliferative syndrome Aliases: ALPS Canale-Smith syndrome	Fas Fasl	14102 14103	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12215	oligohydramnios Aliases: Oligohydramnios - delivered antepartum oligohydramnios delivered oligohydramnios	Pdgfa Pdgfb Pdgfra Pdgfrb Pdpn	14726 18590 18591 18595 18596	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13891	bird fancier's lung Aliases: Avian hypersensitivity Pneumonitis Bird-fancier's lung Bird-fanciers' lung bird breeder's lung bird fancier lung pigeon breeder's lung poultry worker's lung	Muc1	17829	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1682	congenital heart disease Aliases: Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect	Adamts19 Cdc34 Chd6 Chd8 Chd9 Cma1 Cripto Dnmt1 Foxp1 Gata4 Gdf1 Hcfc1 Hcfc2 Itpr1 Jag1 Jpt1 Kmt2b Lefty2 Lrp2 Myh7 Notch1 Rbfox2 Rnf20 Rxra Sap130 Son Tab2 Tbx20 Usp36 Vegfa Wdr5	108655 109151 109331 13433 140781 140858 14463 14559 14725 15161 15374 16438 16449 17228 18128 20181 20658 216150 21667 22339 240322 269003 320202 57246 67772 67933 68652 71389 72344 75410 93686	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2907	Goldenhar syndrome Aliases: Facio-auriculo-vertebral spectrum First AND second branchial arch syndrome First arch syndrome HEMIFACIAL MICROSOMIA OAV (oculoauriculovertebral) dysplasia Otomandibular dysostosis	Lyn Sf3b2 Src Yes1 Zic3	17096 20779 22612 22773 319322	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11829	degenerative myopia Aliases: degenerative progressive high myopia pathological myopia progressive high (degenerative) myopia progressive high myopia	H2-Ab1 Lrp2	14725 14961	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3450	cutaneous Paget's disease Aliases: Paget's disease of skin cutaneous Paget disease extramammary Paget's disease	Pik3ca	18706	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10873	Kuhnt-Junius degeneration Aliases: Exudative senile macular degeneration of retina Neovascular age-related macular degeneration Senile macular degeneration, wet Wet senile macular retinal degeneration	Anxa5 C3 Ccl2 Cfi Flt1 Igf1r Kdr Nos3 Pdgfb Pdgfrb Pon1 Sod2 Tlr2 Tlr3 Vegfa	11747 12266 12630 14254 142980 16001 16542 18127 18591 18596 18979 20296 20656 22339 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4926	bronchiolo-alveolar adenocarcinoma Aliases: Bronchioalveolar lung carcinoma Bronchioloalveolar carcinoma Minimally Invasive Lung Adenocarcinoma	Dnmt1 Egfr Egr1 Kras Trp53	13433 13649 13653 16653 22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1962	fallopian tube disease	Ccr5	12774	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080562	congenital disorder of glycosylation Ij Aliases: Congenital disorder of glycosylation 1j	Dpagt1	13478	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070283	primary autosomal recessive microcephaly 13 Aliases: MCPH13	Cenpe	229841	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9201	lichen planus Aliases: Lichen, ruber planus lichen ruber planus	Cd40 Cd40lg	21939 21947	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3146	lipid metabolism disorder Aliases: dyslipidemia fatty acid metabolism disorder	Cpt1a Cpt2 Fads1 Hadha Hsd17b4 Lep Npy5r Ppara	12894 12896 15488 16846 18168 19013 76267 97212	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111535	progressive osseous heteroplasia Aliases: POH ectopic ossification familial type familial ectopic ossification osteoma cutis	Bmp4 Ctnnb1 Gnas Sparc Spp1	12159 12387 14683 20692 20750	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110545	autosomal dominant nonsyndromic deafness 13 Aliases: DFNA13 autosomal dominant deafness 13	Col11a2	12815	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070234	Loeys-Dietz syndrome 2 Aliases: AAT3 LDS2 Marfan syndrome type II familial throacic aortic aneurysm 3	Tgfbr2	21813	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2187	amelogenesis imperfecta	Fam20c	80752	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070049	autosomal dominant intellectual developmental disorder 19 Aliases: MRD19 autosomal dominant mental retardation 19 autosomal dominant non-syndromic intellectual disability 19	Ctnnb1	12387	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1967	leiomyosarcoma Aliases: Leiomyosarcomas	Amhr2 Flt1 Kit Xrn2	110542 14254 16590 24128	Mus musculus (house mouse)	Alliance of Genome Resources

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