GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **13001 - 13025** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:13533	osteopetrosis Aliases: Albers-Schonberg disease marble bone	Clcn3 Clcn5 Csf1 Ghr Mitf Slc4a2	12725 12728 12977 14600 17342 20535	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111312	idiopathic generalized epilepsy 11 Aliases: EIG11	Clcn2	12724	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10579	leukodystrophy	Aars1 Acer3 Clcn2 Eif2s1 Eif2s3x	12724 13665 234734 26905 66190	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:446	primary hyperaldosteronism Aliases: Cushing syndrome Cushing's syndrome hyperaldosteronism	Clcn2 Cybb Drd2 Nr3c1 Ren1 Serpina1a Serpina1b Serpina1c Serpina1d Serpina1e	12724 13058 13489 14815 19701 20700 20701 20702 20703 20704	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090014	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive Aliases: autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID	Coro1a	12721	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060019	coronin-1A deficiency	Coro1a	12721	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080101	Compton-North congenital myopathy Aliases: congenital myopathy 12	CNTN1	1272	Homo sapiens (human)	Alliance of Genome Resources
DOID:4989	pancreatitis	BDKRB2 CCL2 CCL5 CNR2 CTSL CTSV EGF EGR1 FGA FGB FGG HSP90AB1 HTR2A ICAM1 IL10 IL13 IL15 KLK1 LEPR MDM2 MET NOD2 PDGFA PDGFB PPARG PRSS1 SELL SERPINA1 SERPING1 SMO TACR1 TLR2 TLR3 TLR4 VCAM1	1269 1514 1515 1950 1958 2243 2244 2266 3326 3356 3383 3586 3596 3600 3816 3953 4193 4233 5154 5155 5265 5468 5644 624 6347 6352 6402 64127 6608 6869 7097 7098 7099 710 7412	Homo sapiens (human)	Alliance of Genome Resources
DOID:848	arthritis Aliases: Inflammatory disorder of joint	B2M CD40 CNR2 FCGR3A GC HLA-DQA1 HLA-DQB1 IL23R PARP1 TLR4	1269 142 149233 2214 2638 3117 3119 567 7099 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:2030	anxiety disorder Aliases: anxiety anxiety state	ADRA2A BDNF CNR2 CREB1 CTNND2 CYP3A5 DRD2 ELK1 GAD1 GDNF HCN1 HDAC2 HTR1A HTR1B HTR2C HTR7 KDM3B L1CAM LEF1 MANEA MC4R NCOR1 NODAL NPY1R NTRK2 POMC SCN1A SCN2A SCN3A SCN9A SLC18A2 SLC6A4 TSC2	1269 1385 150 1501 1577 1813 2002 2571 2668 3066 3350 3351 3358 3363 348980 3897 4160 4838 4886 4915 51176 51780 5443 627 6323 6326 6328 6335 6532 6571 7249 79694 9611	Homo sapiens (human)	Alliance of Genome Resources
DOID:2234	focal epilepsy Aliases: localisation-related epilepsy partial epilepsy	CNR1 DEPDC5 MMP9	1268 4318 9681	Homo sapiens (human)	Alliance of Genome Resources
DOID:750	peptic ulcer disease Aliases: acute peptic ulcer with hemorrhage acute peptic ulcer with hemorrhage and perforation acute peptic ulcer without hemorrhage and without perforation	CNR1 CYP2C19 HLA-DRB1	1268 1557 3123	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	B3GALT6	126792	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	B3GALT6	126792	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060889	prune belly syndrome Aliases: Eagle-Barret syndrome Obrisnksy syndrome abdominal muscle deficiency syndrome	Chrm3	12671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:365	bladder disease Aliases: Urinary Bladder Disease	Chrm3	12671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome Aliases: Berdon syndrome Megacystis microcolon intestinal hypoperistalsis syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH visceral myopathy	Chrm3	12671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12583	velocardiofacial syndrome Aliases: Shprintzen syndrome VCF-Velocardiofacial syndrome	Chrd Crkl Ednra Ess2 Trappc10	12667 12929 13617 216131 27886	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11198	DiGeorge syndrome Aliases: 22q11.2 deletion syndrome DiGeorge sequence DiGeorge's syndrome Pharyngeal pouch syndrome	Chrd Crkl Dvl1 Ess2 Fgf8 Mrpl40 Ndst1 Plxnd1 Tgfbr2 Vegfa	12667 12929 13542 14179 15531 18100 21813 22339 27886 67784	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060246	MASA syndrome Aliases: CRASH syndrome Gareis-Mason syndrome L1 syndrome SPG1 X-linked complicated hereditary spastic paraplegia type 1 X-linked corpus callosum agenesis X-linked spastic paraplegia 1 hereditary spastic paraplegia 1	Chl1 L1cam Nfasc Nrcam Trpm1	12661 16728 17364 269116 319504	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13375	temporal arteritis Aliases: Horton's disease giant cell arteritis	Ccl2 Chi3l1 Csf2 Dll1 Fcgr2b Fcgr3 Fcgr4 H2-Eb1 Ifng Il17a Il21r Il4 Jag1 Mbl2 Mfge8 Mmp2 Mmp9 Tlr4	12654 12981 13388 14130 14131 14969 15978 16171 16189 16449 17195 17304 17390 17395 20296 21898 246256 60504	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3371	chondrosarcoma Aliases: Cartilaginous cancer chondrosarcoma of bone primary chondrosarcoma of the bone	Chi3l1 Col2a1 Ext1 Mtor	12654 12824 14042 56717	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050685	small cell carcinoma Aliases: Small cell carcinoma - intermediate cell Small cell carcinoma, intermediate cell intermediate cell small cell carcinoma	Chi3l1 Chrm3 Tnf Tnfsf10 Wif1	12654 12671 21926 22035 24117	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050771	pheochromocytoma Aliases: phaeochromocytoma	Chga Dmbt1 L1cam Max Ret	12652 12945 16728 17187 19713	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2696	Leydig cell tumor Aliases: Leydig cell neoplasm	Cga Esr1 Flt1 Inha Lhcgr Pdgfa Pdgfb Pdgfra Pdgfrb	12640 13982 14254 16322 16867 18590 18591 18595 18596	Mus musculus (house mouse)	Alliance of Genome Resources

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