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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 **10026 - 10050** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0070162	hereditary sensory and autonomic neuropathy type 1 Aliases: HSAN1 hereditary sensory and autonomic neuropathy type I	Sptlc2	20773	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3829	pituitary adenoma Aliases: adenoma of the Pituitary gland	Avpr1b	26361	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111352	D-2-hydroxyglutaric aciduria 2 Aliases: D2HGA2	Idh2	269951	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090092	hypogonadotropic hypogonadism 3 with or without anosmia	Prokr2	246313	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111707	Bothnian type palmoplantar keratoderma Aliases: PPKB diffuse palmoplantar keratoderma, Bothnian type	Aqp5	11830	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:552	pneumonia Aliases: acute pneumonia	Abo Ace Adrb2 C3 Ccl11 Ccl7 Ccr7 Cd14 Cd163 Cxcl9 Cyp1a1 Fcgr4 Hc Icam1 Ikbkb Il10 Il13 Il13ra2 Il1a Il1rn Irf5 Itga4 Itgb2 Itgb2l Mbl2 Muc1 Sftpb Sftpd Slc11a2 Sod3 Tgfb1 Tnc Tnfrsf1b	11421 11555 12266 12475 12775 13076 15139 15894 16150 16153 16163 16165 16175 16181 16401 16414 16415 17195 17329 17829 18174 20292 20306 20388 20390 20657 21803 21923 21938 246256 27056 80908 93671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:809	cocaine abuse	Cd40lg Chrna5 Chrna6 Chrnb4 Gria1 Htr1a Htr2a Htr2c Npy1r Nr3c1 Slc18a1 Slc18a2 Slc6a4	108015 110835 110877 11440 14799 14815 15550 15558 15560 15567 18166 214084 21947	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:893	Wilson disease Aliases: Cerebral pseudosclerosis Westphal pseudosclerosis Westphal-Strumpell syndrome Wilson's disease hepatolenticular degeneration	Anxa5 Atp7a Cp Hmgcr Smpd1	11747 11977 12870 15357 20597	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111223	centronuclear myopathy 1 Aliases: CNM1	Dnm1 Dnm2 Dnm3 Mtmr14	103967 13429 13430 97287	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112232	lissencephaly 3 Aliases: LIS3	Tuba1a Tuba1b Tuba1c Tuba3a Tuba3b Tuba4a Tuba8	22142 22143 22144 22145 22146 22147 53857	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14504	Niemann-Pick disease Aliases: Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis	Npc1 Npc2 Smpd1	18145 20597 67963	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110314	hypertrophic cardiomyopathy 8 Aliases: cardiomyopathy hypertrophic mid-left ventricular chamber type 1 cardiomyopathy, familial hypertrophic, 8	Myl3	17897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080240	non-syndromic X-linked intellectual disability 106 Aliases: MRX106 X-linked mental retardation 106	Ogt	108155	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080960	amelogenesis imperfecta type 2A6 Aliases: Amelogenesis imperfecta, hypomaturation type, IIA6	Gpr68	238377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:655	inherited metabolic disorder Aliases: Inborn Errors of Metabolism Metabolic hereditary disorder inborn metabolism disorder	Bche Gphn Ndufs1 Slc22a21 Slc22a5	12038 20520 227197 268566 56517	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1587	thrombocytopenia due to platelet alloimmunization Aliases: Auto-immune thrombocytopenia Immune thrombocytopenia Thrombocytopenia Due to Immune Destruction	Fcgr4	246256	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11054	urinary bladder cancer Aliases: bladder cancer tumor of the bladder	Akt1 Areg Bax Car9 Casp9 Cd44 Cd82 Cd9 Cdh13 Cdh1 Col6a3 Comt Ctnnb1 Ctsb Cxcr2 Cyp1a1 Cyp2c29 Dapk1 Dnmt1 Egfr Eno2 Ephx1 Erbb2 Erbb3 Erbb4 Esr2 Ezh2 F2 Fanca Fas Fasl Fgfr2 Fn1 Hk1 Hspa1a Icam1 Ifng Igfbp3 Il1rn Il2 Jup Kdr Kit Kras Krt5 Map2k4 Mki67 Mlh1 Mmp13 Mmp1a Mmp2 Mmp9 Msh6 Muc1 Muc5b Myc Ncstn Nos3 Phb1 Pparg Ptgs2 Rassf1 Rela Slc11a1 Smad4 Sod2 Sparc Spp1 Tgfbr1 Thbs1 Timp3 Tlr2 Tmeff2 Tnfrsf10b Top2a Trp53 Tymp Vegfa Vegfc Vegfd Wif1 Wnt7b	110308 11651 11839 12028 12371 12387 12505 12521 12527 12550 12554 12765 12835 12846 13030 13076 13095 13433 13649 13807 13849 13866 13867 13869 13983 14056 14061 14087 14102 14103 14183 14205 14268 15275 15894 15978 16009 16181 16183 16480 16542 16590 16653 17128 17345 17350 17386 17390 17395 17688 17829 17869 18127 18173 18673 19016 19225 193740 19697 20656 20692 20750 21812 21825 21859 21933 21973 22059 22339 22341 22422 230099 24088 24117 26398 56289 56363 59287 69635 72962 74180 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4556	lung large cell carcinoma Aliases: large cell carcinoma of lung large cell lung carcinoma	Chrna5 Dll4 Notch1 Ptpn13	110835 18128 19249 54485	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14451	hyperkalemic periodic paralysis Aliases: familial hyperkalemic periodic paralysis	Scn4a	110880	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2773	contact dermatitis Aliases: Contact dermatitis/eczema Contact eczema Dermatitis, venenata dermatitis venenata	Cd46	17221	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111278	histiocytosis-lymphadenopathy plus syndrome Aliases: Faisalabad histiocytosis H syndrome HJCD PHID Rosai–Dorfman disease SHML cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss familial Rosai-Dorfman disease histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness histiocytosis with joint contractures and sensorineural deafness pigmented hypertrichosis with insulin-dependent diabetes mellitus sinus histiocytosis and massive lymphadenopathy	Slc29a3	71279	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080385	nephrotic syndrome type 11	Nup107	103468	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110527	autosomal recessive nonsyndromic deafness 8 Aliases: DFNB10 DFNB8 NRSD8 autosomal recessive deafness 10 autosomal recessive deafness 8 childhood-onset neurosensory autosomal recessive deafness 8 neurosensory nonsyndromic recessive deafness 8	Tmprss3	140765	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3181	oligodendroglioma Aliases: oligodendroglial neoplasm oligodendroglial tumor	Egf Ptges3	13645 56351	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	Acsl1 Adam10 Adipoq Amn Araf Asah2 Atp5f1b Bag3 Braf Casr Ccl2 Col15a1 Col18a1 Cxcr4 Des Egfbp2 Egfr Ep300 Erbb2 Erbb3 Erbb4 Got1 Hfe Ifng Igf1r Itga7 Jph1 Jph2 Jund Jup Klk1 Klk1b11 Klk1b16 Klk1b1 Klk1b21 Klk1b22 Klk1b24 Klk1b26 Klk1b27 Klk1b3 Klk1b4 Klk1b5 Klk1b8 Klk1b9 Kras Ldb3 Lrp1 Mlycd Mmp2 Mmp9 Myh13 Myh1 Myh2 Myh3 Myh4 Myh6 Myh7 Myh7b Ncam1 Nono Nos3 Pde2a Pdlim5 Pdlim7 Phactr1 Pomt1 Ppargc1a Ppp3ca Rph3a Rragc Sgcd Sgcg Sgcz Slc22a21 Slc22a5 Slc31a1 Slc4a1 Sod2 Sparc Sparcl1 Srf Tab2 Tbx20 Tnf Tnni3 Tshr Uts2r	109880 11450 11487 11836 11947 12374 12767 12819 12822 13346 13602 13646 13647 13648 13649 13866 13867 13869 140781 14081 14718 15216 15978 16001 16404 16478 16480 16612 16613 16615 16616 16617 16618 16619 16622 16623 16624 16653 16971 17390 17395 17879 17882 17883 17884 17888 17967 18048 18050 18127 19017 19055 19894 20296 20520 20529 20533 20656 20692 207728 20807 217369 218194 21926 21954 22095 24052 24053 24131 244431 29810 328572 53610 54170 54447 544791 56376 56517 56690 57246 57339 59091 668940 67399 68652 93835 99011	Mus musculus (house mouse)	Alliance of Genome Resources

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