GlyCosmos Portal

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

Displaying entries **876 - 900** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0050854	Muckle-Wells syndrome Aliases: MWS neutrophilic urticaria	Il1rn	16181	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111425	restrictive cardiomyopathy 1 Aliases: RCM1 familial restrictive cardiomyopathy 1	Tnni3	21954	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111780	TARP syndrome Aliases: Pierre Robin sequence-congenital heart defect-talipes syndrome Pierre Robin syndrome-congenital heart defect-talipes syndrome TARPS talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome	RBM10	8241	Homo sapiens (human)	Alliance of Genome Resources
DOID:12930	dilated cardiomyopathy Aliases: primary dilated cardiomyopathy	ABCC9 ACE ACTC1 ADRB1 ADRB2 AGT AGTR1 AGTR2 APOE BAG3 BAX CACNG8 CAP2 CASP9 CAT CD40 CDK8 CENPF COL15A1 COL18A1 CS CTSL CTSV CXCR3 CYP1A1 CYP2C19 DAG1 DES DICER1 DLL1 DLL4 DMD DNER DNM1L DSC2 DSG2 DSP DYRK1A ECE1 EDN1 EEF1A1 EEF1A2 EGFR EMD ERBB2 EYA4 FADS2 FAS FKRP FLNC GDF1 GPX1 HFE HLA-DQB1 HP ICAM1 ICAM3 ICAM4 IL10 IL13RA2 IRF4 ITPR1 JAG1 JAG2 LDB3 LEPR LMNA LMOD2 LTBP2 MAP3K7 MAS1 MBNL1 MBNL2 MED1 MEF2A MMP14 MMP1 MMP2 MRGPRD MYH15 MYH1 MYH7 NCOA6 NEBL NFATC4 NOS2 NPPA NPPB NR2F2 OBSCN ORAI1 ORAI3 PDCD1 PDLIM5 PHC1 PPARGC1A PPP3CA PRKCA PTGER4 PTPN11 RAB1A RANBP1 RBM20 RBM24 RBP4 RBPJ RPS6KB1 RTF1 RTTN SNAI1 SOD2 SP4 SRF STIM1 STIM2 TIMP3 TNF TNNI3 TP53 TRDN TTN VCL VEZF1 YME1L1	10059 10060 10150 1024 10345 10486 10529 10611 1063 10730 10891 11155 116512 1306 1431 1514 1515 153 154 1543 1557 1605 1636 1674 1756 182 1824 1829 183 1832 185 1859 186 1889 1906 1911 1915 1917 1956 2010 2064 2070 221662 22989 23054 23168 2318 23405 25914 2657 282996 2833 28514 2876 3077 3119 3240 3383 3385 3386 348 3516 355 3586 3598 3662 3708 3714 3953 4000 4053 4142 4154 4205 4312 4313 4323 442721 4619 4625 4776 4843 4878 4879 5133 54567 5469 5530 5578 5734 57620 5781 581 5861 5902 59283 5950 6198 6615 6648 6671 6722 6786 6885 70 7026 7078 7124 7137 7157 7273 7414 7716 79147 80781 84033 842 847 84876 92737 93129 9415 9531 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111074	progressive familial heart block type IA Aliases: PFHB1A	para	32619	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070256	congenital disorder of glycosylation type IId Aliases: CDG IId CDG2D CDGIId	b4galt1 b4galt1l	550425 768123	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:11714	gestational diabetes Aliases: GDM Gestational diabetes mellitus Maternal gestational diabetes mellitus	ins	30262	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080718	GNE myopathy Aliases: Distal myopathy, Nonaka type Hereditary Inclusion Body Myopathy Nonaka myopathy inclusion body myopathy 2	GNE	10020	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:3687	MELAS syndrome Aliases: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES	ND5	4540	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110023	age related macular degeneration 11 Aliases: ARMD11	Cst3	13010	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080784	urinary tract infection Aliases: UTI	Cxcr1 Hspa1a Il1a Lcn2 Tlr2 Tlr4	16175 16819 193740 21898 227288 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110770	hereditary spastic paraplegia 17 Aliases: SPG17 Silver spastic paraplegia syndrome Silver syndrome autosomal dominant spastic paraplegia 17 autosomal dominant spastic paraplegia type 17 dHMN5B distal hereditary motor neuropathy type 5B spastic paraplegia with amyotrophy of hands and feet spastic paraplegia-amyotrophy of hands and feet	Bscl2	14705	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112379	muscular dystrophy-dystroglycanopathy type B4 Aliases: MDDGB4 congenital muscular dystrophy FKTN-related	Fktn	246179	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080584	autosomal dominant Wolfram syndrome	wfs1	42679	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1350	paranasal sinus benign neoplasm Aliases: neoplasm of accessory sinus tumor of Accessory sinus	Trp53	22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060296	congenital secretory chloride diarrhea 1 Aliases: congenital chloride diarrhea finnish type congenital chloride diarrhoea finnish type congenital chloridorrhea congenital secretory chloride diarrhoea 1	Slc26a3	13487	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9574	choanal atresia Aliases: Atresia of nares Imperforate nares posterior choanal atresia	Smchd1	74355	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3753	Hermansky-Pudlak syndrome	Ap3b1 Cxcr4	11774 12767	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13078	eumycotic mycetoma Aliases: Madura foot Maduromycosis, mycotic Mycotic mycetoma eumycetoma maduromycosis	Comt	24267	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080735	Ehlers-Danlos syndrome kyphoscoliotic type 2	FKBP14	55033	Homo sapiens (human)	Alliance of Genome Resources
DOID:5517	stomach carcinoma Aliases: cancer of the stomach carcinoma of stomach gastric carcinoma	rnf43	100491274	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0081421	familial focal epilepsy with variable foci 1	IML1	853603	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:850	lung disease	ace2 ace cftr	492331 559080 565980	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:14221	abdominal obesity-metabolic syndrome 1 Aliases: dysmetabolic syndrome X metabolic syndrome X	Atp2a2 Bax Fas Lep Lpl	11938 12028 14102 16846 16956	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111448	progressive myoclonus epilepsy 1B Aliases: EPM1B	PRICKLE1	144165	Homo sapiens (human)	Alliance of Genome Resources

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