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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 **15701 - 15725** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:14720	Ehlers-Danlos syndrome classic type 1 Aliases: Ehlers-Danlos syndrome, type 1 type I Ehlers-Danlos syndrome	Col5a1 Col5a2 Lum	12831 12832 17022	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	Plod Zip99C beta3GalTII beta4GalT7	35848 39265 42991 43533	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111783	otopalatodigital syndrome type 1 Aliases: OPD I syndrome OPD syndrome 1 OPD1 Taybi syndrome oto-palato-digital syndrome type 1 otopalatodigital syndrome type I	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:1925	Coffin-Siris syndrome Aliases: Dwarfism-Onychodysplasia Fifth Digit Syndrome Short Stature-Onychodysplasia.	SNF12	855757	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080237	autosomal dominant intellectual developmental disorder 46 Aliases: autosomal dominant mental retardation 46	KCNQ5	56479	Homo sapiens (human)	Alliance of Genome Resources
DOID:13025	retinopathy of prematurity Aliases: Retrolental fibroplasia premature retinopathy	ANGPT2 DLL4 EPO EPOR FLT1 HGF HLA-B HLA-DRB1 ICAM1 IGFBP3 IHH IL10 KDR NOS1 NOS2 NOS3 NOTCH1 SERPINE1 SERPINF1 SOD1 VEGFA	2056 2057 2321 285 3082 3106 3123 3383 3486 3549 3586 3791 4842 4843 4846 4851 5054 5176 54567 6647 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050486	exanthem	Ccr6	12458	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9065	leishmaniasis	Ccr5 Ifng Il4 Slc6a4	12774 15567 15978 16189	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9828	neonatal abstinence syndrome Aliases: Drug withdrawal syndrome in newborn	COMT CYP2B6 OPRK1 OPRM1	1312 1555 4986 4988	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080414	developmental and epileptic encephalopathy 15 Aliases: DEE15 early infantile epileptic encephalopathy 15	ST3GAL3	6487	Homo sapiens (human)	Alliance of Genome Resources
DOID:2235	prothrombin deficiency Aliases: Congenital factor II deficiency Hereditary factor II deficiency disease hypoprothrombinemia	F7	260320	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2917	cryoglobulinemia Aliases: Cryoimmunoglobulinaemia	pgp-1 pgp-3	178215 181326	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070390	developmental and epileptic encephalopathy 104 Aliases: DEE104 early infantile epileptic encephalopathy 104	Atp6v0a1	29757	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080171	esophageal atresia/tracheoesophageal fistula Aliases: esophageal atresia and/or tracheoesophageal fistula tracheoesophageal fistula with or without esohageal atresia	Gli2 Nog Shh	14633 18121 20423	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112228	lissencephaly 9 with complex brainstem malformation Aliases: LIS9 posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome	shot	36542	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080855	Parkinsonism	ENO1 ENO2 ERR1 ERR2 ERR3 GLR1 SMF3 YCT1	850671 850721 853169 854575 855373 855848 856014 856579	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:820	myocarditis Aliases: Myocardial inflammation	ACE ADRB2 CCL2 CTLA4 CX3CL1 CXCR3 CYP11B1 HLA-DQB1 ICAM1 ICOS IL10 IL17A IL22 ITGB2 LCN2 MIF PPA1 PPA2 PTGER4 SPP1 STAT6 TNFRSF11A TNFRSF11B TNFSF11	1493 154 1584 1636 27068 2833 29851 3119 3383 3586 3605 3689 3934 4282 4982 50616 5464 5734 6347 6376 6696 6778 8600 8792	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080563	congenital disorder of glycosylation Ik Aliases: congenital disorder of glycosylation 1k	alg1	334161	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:14323	Marfan syndrome Aliases: Marfan's syndrome	Acvr2a Acvr2b Bmp2 Bmp4 Bmp5 Bmp6 Bmp7 Bmp8b Fbn1 Matn4 Mmp12 Mmp2 Tgfbr2	11480 11481 12156 12159 12160 12161 12162 12164 14118 17183 17381 17390 21813	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	Acsl1 Adam10 Asah2 Atp5f1b Casr Ccl2 Cxcr4 Erbb3 Erbb4 Got1 Hfe Ifng Igf1r Itga7 Jup Klk1 Klk1b3 Klk1c10 Klk1c2 Klk1c9 Lrp1 Mmp2 Mmp9 Ncam1 Nos1 Nos3 Pdlim5 Pdlim7 Pomt1 Ppargc1a Rph3a Sdha Slc22a5 Slc31a1 Slc4a1 Sod2 Sparc Sparcl1 Tnf Tnni3 Tnnt2 Tshr Uts2r	114104 157074 171039 171135 171374 24247 24401 24523 24586 24594 24598 24600 24770 24779 24787 24791 24835 24837 24841 25288 25360 25434 25712 25718 286908 29199 29248 292858 292868 29496 29650 29726 299858 57305 59323 60628 64353 81008 81679 81686 81687 83516 84430	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2512	nevoid basal cell carcinoma syndrome Aliases: Gorlin syndrome NBCCS basal cell nevus syndrome	Shh Smo	25273 29499	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	Chsy1	269941	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1088	meningocele	Tmem67	329795	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8970	subacute sclerosing panencephalitis Aliases: Immunosuppressive measles encephalitis Van Bogaert's sclerosing leukoencephalitis subacute sclerosing leukoencephalopathy	ACE IFNL1	1636 282618	Homo sapiens (human)	Alliance of Genome Resources
DOID:639	acute disseminated encephalomyelitis Aliases: ADEM acute disseminated encephalitis	H2-Ab1 H2-Eb1 Ifng Nefl	14961 14969 15978 18039	Mus musculus (house mouse)	Alliance of Genome Resources

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