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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 **10801 - 10825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0060301	type I complement component 8 deficiency	C8a	230558	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3321	GM2 gangliosidosis Aliases: gangliosidosis GM2	Gm2a	14667	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110876	holoprosencephaly 7 Aliases: HPE7	Ptch1	19206	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1205	allergic disease Aliases: allergic hypersensitivity disease hypersensitivity hypersensitivity reaction type I disease	Ace Akr1b1 Arhgap28 Cd14 Cysltr1 Fcgr4 H2-Aa H2-Ab1 H2-Ea H2-Eb1 Icam1 Il13 Lta	100504404 11421 11677 12475 14960 14961 14969 15894 16163 16992 246256 268970 58861	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111901	heparin cofactor II deficiency Aliases: HCF 2 deficiency HCF II deficiency THPH10 thrombophilia due to heparin cofactor II deficiency	Serpind1	15160	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111836	congenital nongoitrous hypothyroidism 7 Aliases: CHNG7 TRH resistance syndrome central hypothyroidism due to TRH receptor deficiency resistance to thyrotropin-releasing hormone syndrome	Trhr	22045	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110798	hereditary spastic paraplegia 46 Aliases: SPG46 autosomal recessive spastic paraplegia 46 autosomal recessive spastic paraplegia type 46	Gba2	230101	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080981	arthrogryposis multiplex congenita-5	Tor1a	30931	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2749	glycogen storage disease Ia	G6pc1	14377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060766	autosomal dominant Robinow syndrome 1 Aliases: DRS1	Wnt5a	22418	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9477	pulmonary embolism Aliases: pulmonary artery embolism pulmonary embolus	Ccl2 Dab2ip F13a1 F2 F5 Fga Fgb Fgg Fto Hp Mmp2 Mmp9 Nos3 Proc Vcam1	110135 14061 14067 14161 15439 17390 17395 18127 19123 20296 22329 26383 69601 74145 99571	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11257	social phobia	Cntnap2	66797	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070238	primary coenzyme Q10 deficiency 1 Aliases: COQ10D1 CoQ deficiency 1 CoQ10 deficiency, primary, 1 coenzyme Q deficiency 1 ubiquinone deficiency 1	Coq2	71883	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12705	Friedreich ataxia Aliases: Friedreich's ataxia Friedreich's tabes	Agtr1a Agtr1b	11607 11608	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4783	mesangial proliferative glomerulonephritis	Fbn1 Fgfr1 Itga8 Pdgfd Vwf	14118 14182 22371 241226 71785	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060404	chromosome 17q12 deletion syndrome Aliases: 17q12 microdeletion syndrome	Acaca Acacb	100705 107476	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1882	atrial heart septal defect Aliases: atrial septal defect atrioseptal defect auricular septal defect congenital atrial septal defect interatrial septal defect interauricular septal defect	Bmp4 Gata4 Myh6 Tbx20	12159 14463 17888 57246	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112129	severe congenital neutropenia 7 Aliases: SCN7 autosomal recessive severe congenital neutropenia due to CSF3R deficiency	Csf3r	12986	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080933	immunoglobulin light chain amyloidosis Aliases: AL amyloidosis Amyloidosis primary systemic Light chain amyloidosis Primary AL amyloidosis Primary systemic AL amyloidosis Primary systemic amyloidosis Systemic AL amyloidsis	Mmp1a Mmp2	17390 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081235	autosomal recessive intellectual developmental disorder 76	Gria1	14799	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111970	immunodeficiency 10 Aliases: CID due to STIM1 deficiency IMD10 STIM1 deficiency combined immunodeficiency due to STIM1 deficiency immune dysfunction with T-cell inactivation due to calcium entry defect 2	Stim1	20866	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13406	pulmonary sarcoidosis Aliases: lung Sarcoidosis	Abo Bdnf C3 Ccl19 Ccr5 Ccr7 Cftr Chi3l1 Cxcl9 Cxcr3 Egr1 H2-Eb1 Il15 Il18r1 Il1rn Lta Muc1 Ngf Nr3c1 Ntf3 Ntrk1 Tgfb1 Tlr2 Tnc Tnf Tnfrsf1b Vip	12064 12266 12638 12654 12766 12774 12775 13653 14815 14969 16168 16181 16182 16992 17329 17829 18049 18205 18211 21803 21923 21926 21938 22353 24047 24088 80908	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110711	congenital hypotrichosis with juvenile macular dystrophy Aliases: Hjmd hypotrichosis with cone-rod dystrophy	Cdh3	12560	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050524	maturity-onset diabetes of the young Aliases: MODY Mason-type diabetes	Gck Ins2 Pdx1 Tgm2	103988 16334 18609 21817	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3875	thrombophlebitis Aliases: Phlebitis and thrombophlebitis of superficial vessels of lower extremities Superficial thrombophlebitis of leg Thrombophlebitis of a superficial leg vein Thrombophlebitis of superficial veins of lower extremity	H2-D1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3	110557 14964 14972 14990 15006 15007 15013 15015 15018 15043	Mus musculus (house mouse)	Alliance of Genome Resources

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