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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 **7476 - 7500** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:5041	esophageal cancer Aliases: Ca lower third oesophagus Ca middle third oesophagus esophagus cancer malignant neoplasm of distal third of esophagus malignant neoplasm of lower third of oesophagus malignant neoplasm of middle third of oesophagus malignant neoplasm of proximal third of esophagus malignant neoplasm of upper third esophagus malignant tumor of Distal Third of esophagus malignant tumor of Proximal Third of esophagus malignant tumor of abdominal esophagus malignant tumor of the middle Third of the esophagus	Akt1 Cyp1a1 Il10 Il1r2 Il5 Pik3ca Tnfaip3	11651 13076 16153 16178 16191 18706 21929	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10871	age related macular degeneration Aliases: Age Related Maculopathies Age Related Maculopathy Senile macular degeneration Senile macular retinal degeneration age-related macular degeneration	Ccl2 Cd46 Fbln5 Ppargc1a	17221 19017 20296 23876	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070050	neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language Aliases: MRD20 autosomal dominant mental retardation 20 mental retardation, autosomal dominant 20	Mef2c	17260	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12849	autistic disorder Aliases: Kanner's syndrome autism autistic disorder of childhood onset childhood autism infantile autism	Ank2 C4b Ccl2 Cntnap2 Gabra2 Gabra4 Gabra5 Gabrb1 Gabrb2 Gabrr2 Grm8 Grn H2-Eb1 Hspd1 Kcnq3 Kmt2e Lamb1 Mecp2 Met Nf1 Nlgn1 Nlgn3 Ntrk2 Pecam1 Ptchd1 Rapgef4 Reln Shank2 Slc6a4 Slc9a9 Tnf Vldlr	109676 110862 110886 12268 14395 14397 14400 14401 14409 14823 14824 14969 15510 15567 16777 17257 17295 18015 18212 18613 192167 19699 20296 210274 211612 21926 22359 245537 331004 56508 66797 69188	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112181	Schinzel type phocomelia Aliases: AARRS Al Awadi-Raas-Rothschild syndrome Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome LPHAS Schinzel phocomelia syndrome absence of ulna and fibula with severe limb deficiency aplasia/hypoplasia of limbs and pelvis congenital absence of ulna and fibula limb/pelvis-hypoplasia/aplasia syndrome severe limb deficit	Wnt7a	22421	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111903	thrombophilia due to HRG deficiency Aliases: THPH11 hereditary thrombophilia due to congenital HRG deficiency hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	Hrg	94175	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112204	developmental and epileptic encephalopathy 68 Aliases: DEE68 early infantile epileptic encephalopathy 68	Trak1	67095	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4677	keratitis	Tlr2 Tlr4	21898 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111549	aplasia of lacrimal and salivary glands Aliases: ALSG congenital absence of lacrimal puncta and salivary glands	Fgf10	14165	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14159	obstructive hydrocephalus	Myo9a	270163	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11726	Emery-Dreifuss muscular dystrophy Aliases: EDMD	Emd Lemd3 Lmna Lmnb1 Lmnb2 Syne1 Syne2 Tmpo	13726 16905 16906 16907 21917 319565 380664 64009	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12577	urethral obstruction Aliases: Obstruction of urethra	Gja1 Tgfb1	14609 21803	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110698	hypotrichosis 1 Aliases: Hhs Hts Hypt1 hereditary generalized hypotrichosis simplex	Apcdd1	494504	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070235	Loeys-Dietz syndrome 1 Aliases: AAT5 Furlong syndrome LDS1 familial throacic aortic aneurysm 5	Tgfbr1	21812	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:0060488	Pitt-Hopkins syndrome	Cntnap2 Tcf12 Tcf4	21406 21413 66797	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081017	congenital fibrosis of the extraocular muscles 3A	Tubb3	22152	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	Pgk1	18655	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050456	Buruli ulcer disease Aliases: Bairnsdale ulcer Daintree ulcer Mossman ulcer Searl ulcer Searle's ulcer	Slc11a1	18173	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081424	familial focal epilepsy with variable foci 4	Scn3a	20269	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110283	autosomal recessive limb-girdle muscular dystrophy type 2J Aliases: LGMD2J muscular dystrophy, limb-girdle, type 2J	Ttn	22138	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050908	myelodysplastic syndrome	Arpc1b Asxl1 Atg7 Bap1 Cd40 Csf3r Ddx42 Egr1 Ezh2 Fas Fasl Fcgr4 Gnb1 Hfe Idh1 Itgb3 Npm1 Prpf8 Rap1gap Slc22a21 Slc22a5 Srsf11 Tet2 Tnf Trp53	104416 110351 11867 12986 13653 14056 14102 14103 14688 15216 15926 16416 18148 192159 20520 214133 21926 21939 22059 228790 246256 56517 69207 72047 74244	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060251	sclerosteosis	Sost	74499	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4606	bile duct cancer Aliases: Ca extrahepatic bile ducts bile duct tumor malignant neoplasm of the extrahepatic bile duct	Apob Tjp1	21872 238055	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080821	exercise-induced bronchoconstriction Aliases: exercise-induced asthma	Tacr1	21336	Mus musculus (house mouse)	Alliance of Genome Resources

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