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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 **8851 - 8875** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0110669	congenital myasthenic syndrome 14 Aliases: CMS14 CMSTA3 congenital myasthenic syndrome 14, with tubular aggregates congenital myasthenic syndrome with tubular aggregates 3	Alg2	38374	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110350	osteogenesis imperfecta type 6 Aliases: OI6 osteogenesis imperfecta type VI	Serpinf1	20317	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111128	focal segmental glomerulosclerosis 1 Aliases: FSGS1	Ace	24310	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14768	Saethre-Chotzen syndrome	Fgfr2	25022	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:5327	retinal detachment	AIFM1 APOA4 CCL2 CFH COL2A1 EDN1 EPO EPOR FAS FGFR1 IL6 NTRK1 PRKCQ TNF	1280 1906 2056 2057 2260 3075 337 355 3569 4914 5588 6347 7124 9131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080065	autosomal recessive spinocerebellar ataxia 19 Aliases: Lichtenstein-Knorr syndrome SCAR19	Slc9a1	20544	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110011	advanced sleep phase syndrome 1 Aliases: FASPS1 familial advanced sleep phase syndrome 1	Per2	63840	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10783	methemoglobinemia	CYB5R3	1727	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090131	complex cortical dysplasia with other brain malformations Aliases: CDCBM	APC2 CAMSAP1 FOXP1 HCN1	10297 157922 27086 348980	Homo sapiens (human)	Alliance of Genome Resources
DOID:11984	hypertrophic cardiomyopathy Aliases: hypertrophic obstructive cardiomyopathy	Ace2 Actb Adgrl4 Cd36 Cma1 Cox6b1 Cs Csl Ctsl Cyp1a1 Dnmt1 Ephx2 Htr2b Icam1 Igf1r Jph2 Kras Lamp2 Map3k7 Mmp1a Mmp2 Mmp9 Myh7 Myh7b Ndufa7 Orai1 Pkd1 Ptpn11 Slc25a4 Slc25a5 Stim1 Stim2 Tnni3 Vcl	109305 110323 11461 116873 11739 11740 12491 12974 13039 13076 13433 13850 140781 15559 15894 16001 16653 16784 170757 17228 17390 17395 18763 19247 20866 21954 22330 26409 59091 66416 668940 70008 71832 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2508	Takayasu's arteritis Aliases: Aortic arch arteritis Idiopathic aortitis Takayasu arteritis Takayasu's disease aortic arch syndrome	Il2 Mmp9	116562 81687	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060692	platelet-type bleeding disorder 8 Aliases: ADP platelet receptor P2Y12 defect P2Y12 defect	P2RY12	64805	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110277	autosomal recessive limb-girdle muscular dystrophy type 2C Aliases: DMDA1 LGMD2C Maghrebian myopathy SCARMD autosomal recessive Duchenne-like muscular dystrophy type 1 deficiency of sarcoglycan gamma gamma-sarcoglycanopathy limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency muscular dystrophy, limb-girdle, type 2C severe childhood autosomal recessive muscular dystrophy North African type	SGCG	6445	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110157	Charcot-Marie-Tooth disease type 2J Aliases: CMT2J Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities Charcot-Marie-Tooth neuropathy type 2J	Mpz	17528	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11612	polycystic ovary syndrome Aliases: Multicystic ovaries PCOS Polycystic Ovarian disease Polycystic ovaries Stein-Leventhal synd. Stein-Leventhal syndrome polycystic ovary	Dop1R2 Octbeta2R Snmp1 Snmp2	38868 41549 42514 43484	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060480	left ventricular noncompaction Aliases: left ventricular hypertrabeculation	CHD4 DTNA PRDM16 SLC39A8 YWHAE	1108 1837 63976 64116 7531	Homo sapiens (human)	Alliance of Genome Resources
DOID:12308	Dubin-Johnson syndrome Aliases: Dubin Johnson syndrome chronic idiopathic jaundice	ABCC2 ABCC3 RDX SLCO1A2	1244 5962 6579 8714	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060887	ossification of the posterior longitudinal ligament of spine Aliases: OPLL	BMP4 ENPP1	5167 652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110645	long QT syndrome 2 Aliases: LQT2	ALG10B KCNH2 KCNH6	144245 3757 81033	Homo sapiens (human)	Alliance of Genome Resources
DOID:9279	hyperhomocysteinemia	Atp1a2 Ccl2 Ednra F10 F12 G6pd Gria1 Grin2a Grin2b Icam1 Ngf Sod2	24212 24326 24377 24409 24410 24770 24787 25464 29243 306761 310738 50592	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:83	cataract	FAB1 GCY1 GLR1 HSF1 OGG1 SOR1 SOR2 VVS1 XYL2 YPR1 ZWF1	850574 850759 851351 851974 852543 852806 853624 854287 854942 855480 856014	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060060	non-Hodgkin lymphoma	ANXA7 ATR CD40 CD79B CTLA4 FCGR2A GPX1 ICAM1 IGF2R KMT2A MALT1 MTSS1 PON1 PRF1 S1PR2 TMEM260	10892 1493 2212 2876 310 3383 3482 4297 5444 545 54916 5551 9294 958 974 9788	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111113	nephronophthisis 2 Aliases: NPH2 NPHP2 infantile nephronophthisis 2	INVS	27130	Homo sapiens (human)	Alliance of Genome Resources
DOID:3042	allergic contact dermatitis	Ccr5 Kdr Mmp9 Tlr4 Vegfa	117029 25589 29260 81687 83785	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3571	liver cancer Aliases: Ca liver - primary Resectable malignant neoplasm of Liver hepatic cancer hepatic neoplasm malignant hepato-biliary neoplasm malignant neoplasm of liver malignant neoplasm of liver, not specified as primary or secondary malignant neoplasm of liver, primary malignant tumor of liver neoplasm of liver non-resectable primary hepatic malignant neoplasm primary liver cancer primary malignant neoplasm of liver resectable malignant neoplasm of the liver	F47E1.2 adm-2 cest-1.2	179914 181145 181489	Caenorhabditis elegans	Alliance of Genome Resources

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