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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 **6601 - 6625** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0050811	congenital adrenal hyperplasia Aliases: adrenal hyperplasia 1 congenital lipoid adrenal hyperplasia lipoid CAH	CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 POR REN	1583 1584 1585 1586 1589 5447 5972	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080785	Brown-Vialetto-Van Laere syndrome 1	Slc52a3	311536	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110476	autosomal recessive nonsyndromic deafness 1B Aliases: DFNB1B autosomal recessive deafness 1B	Gjb6	14623	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13096	Sneddon syndrome Aliases: Idiopathic livedo reticularis with systemic involvement	ADA2	51816	Homo sapiens (human)	Alliance of Genome Resources
DOID:5577	gastrinoma Aliases: Gastrin Secreting tumor Gastrin cell tumour malignant gastrinoma	Igf1r Met	24553 25718	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1059	intellectual disability	Agtr2 Ank3 Casr Gatad2b Gpi Gpm6a Gpm6b Hivep2 Hpn Il1rapl1 Irs1 Mef2d Ndst1 Ndst2 Ndst3 Ndst4 Pogz Prss12 Psmb1 Rbl2 Slc6a8	114002 192179 24182 24247 25467 29135 292804 295430 29633 29721 306439 310614 310658 317553 361833 362035 50690 81518 81758 85266 94198	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:409	liver disease Aliases: disorder of liver hepatic disorder	GTB1 VPS1	851807 853870	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060237	Warburg micro syndrome Aliases: WARBM Warburg-Sjo-Fledelius syndrome micro syndrome	Rab3gap2	98732	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070422	syndromic X-linked intellectual disability Pilorge type Aliases: MRXSP	Glra2	237213	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2799	bronchiolitis obliterans Aliases: Bronchiolitis exudativa Bronchiolitis fibrosa obliterans Obliterative bronchiolitis	ace	100144634	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0112313	brain small vessel disease	FGA FGG NR1D1 SELP THBD	2243 2266 6403 7056 9572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080418	developmental and epileptic encephalopathy 54 Aliases: DEE54 early infantile epileptic encephalopathy 54	hrpu-1	178421	Caenorhabditis elegans	Alliance of Genome Resources
DOID:5327	retinal detachment	epoa fgfr1a	100004455 30705	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110509	autosomal recessive nonsyndromic deafness 53 Aliases: DFNB53 autosomal recessive deafness 53	Col11a2	12815	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111562	overhydrated hereditary stomatocytosis Aliases: OHS potassium sodium disorder of erythrocyte stomatocytosisIOHST	RHAG	6005	Homo sapiens (human)	Alliance of Genome Resources
DOID:289	endometriosis	Snmp2 btl htl	38868 39564 42160	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1485	cystic fibrosis Aliases: CF mucoviscidosis	Abcb11 Abcb4 Abcc12 Adrb1 Adrb3 Ccl11 Ccl2 Cd14 Cd40lg Cftr Cxcr3 Cyp1a1 Fas Faslg Fcgr2a Fcgr2al1 Fcgr2b Gclc Havcr2 Hfe Hspd1 Igfbp3 Il13 Il1a Il1rn Lep Lta Mmp9 Nos1 Nos3 Ppara Ptgdr2 Ptgs2 Scnn1b Serpina3c Serpina3n Sftpa1 Sftpb Sftpd Tgfb1 Timp1 Tlr4 Tnf	116510 116553 116591 192155 24255 24296 24484 24493 24598 24600 246097 24767 24770 24773 24794 24795 24835 24891 24925 25008 25283 25350 25385 25608 25645 25747 289211 291923 29199 29260 29397 29527 309212 363578 498276 59086 60350 60582 63868 81687 83569 84349 84475	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11717	neonatal diabetes Aliases: diabetes mellitus syndrome in newborn infant neonatal diabetes mellitus	ins	30262	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111236	congenital muscular dystrophy-dystroglycanopathy type A3 Aliases: MDDGA3 Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3	Pomgnt1	68273	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081326	oxoglutarate dehydrogenase deficiency Aliases: Oxoglutaric aciduria alpha-ketoglutarate dehydrogenase deficiency	ogdh-1	177235	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0112361	spondylocostal dysostosis 3 Aliases: SCDO3 autosomal recessive spondylocostal dysostosis 3	lfng	30158	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110989	Joubert syndrome 20 Aliases: JBTS20	TMEM231	79583	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111665	ectodermal dysplasia 10B Aliases: ECTD10B ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive	Edar	13608	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060387	chondrodysplasia Blomstrand type Aliases: Blomstrand lethal chondrodysplasia	Pth1r	19228	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1073	renal hypertension	Agtr1a Cyp2c29 Hspa8 Mmp2 Mmp9 Nos3 Tnf	11607 13095 15481 17390 17395 18127 21926	Mus musculus (house mouse)	Alliance of Genome Resources

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