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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 **1551 - 1575** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:326	ischemia	Adnp Akt2 Angpt2 Calca Ccl2 Crhr2 Dll4 Gja1 Htr1b Itgav Lipc Lonp1 Muc13 Scnn1a Scnn1b Scnn1g Thbd Tnfrsf1a Trp53	11538 11601 11652 12310 12922 14609 15450 15551 16410 17063 20276 20277 20278 20296 21824 21937 22059 54485 74142	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8283	peritonitis Aliases: Retractile mesenteritis acute generalized peritonitis primary bacterial peritonitis sclerosing mesenteritis	Ald1 Atg6	42850 43183	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:14679	VACTERL association	Dync2h1 Fn1 Pcsk5 Qsox1 Shh	104009 110350 14268 18552 20423	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5683	hereditary breast ovarian cancer syndrome Aliases: BRCA1- and BRCA2-associated hereditary breast and ovarian cancer Breast and Ovarian Cancer syndrome HBOC syndrome Hereditary Breast and Ovarian Cancer syndrome Hereditary breast and ovarian cancer	BRCA1 BRCA2 PALB2 RAD51C	5889 672 675 79728	Homo sapiens (human)	Alliance of Genome Resources
DOID:8557	oropharynx cancer Aliases: Oropharyngeal carcinoma malignant Oropharyngeal tumor malignant tumor of oropharynx malignant tumour of mesopharynx oropharyngeal cancer	ire-1	174305	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110624	primary ciliary dyskinesia 30 Aliases: CILD30 primary ciliary dyskinesia 30 without situs inversus	ODAD3	115948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111039	hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Aliases: hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency	Ahcy Ahcyl	11615 269378	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060584	Noonan syndrome 6 Aliases: NS6	NRAS	4893	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050742	nicotine dependence Aliases: tobacco use disorder	Adra2a Ankk1 Chrna3 Chrna4 Chrna5 Chrna6 Chrna7 Chrnb3 Chrnb4 Comt Drd2 Drd3 Fos Gabbr1 Gabbr2 Grin2b Htr1a Htr1b Htr2a Htr2c Htr3a Ncam1 Npy1r Oprm1 Pomc Slc6a3 Trpc3 Trpc5 Trpc6 Trpc7	108015 108043 110834 110835 11438 11440 11441 11551 12846 13162 13489 13490 14281 14812 15550 15551 15558 15560 15561 17967 18166 18390 18976 22065 22067 22068 242425 244859 26946 54393	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060644	chondrodysplasia-pseudohermaphroditism syndrome Aliases: Nivelon-Nivelon-Mabille syndrome chondrodysplasia-disorder of sex development syndrome	GUP1	852796	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110336	osteogenesis imperfecta type 8 Aliases: OI8 osteogenesis imperfecta type VIII	P3H1	64175	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050835	generalized dystonia Aliases: familial dystonia fragments of torsion dystonia	cac	32158	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080036	SOST-related sclerosing bone dysplasia Aliases: van Buchem disease	Sost	74499	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11335	sarcoidosis Aliases: Boeck sarcoid lymphogranulomatosis	Ace Agtr1a Agtr1b Btnl2 Ccr5 Cd14 Cfh Cfhr4 Cma1 Ctla4 H2-Ab1 H2-D1 H2-Eb1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Hp Ifna11 Ifna12 Ifna13 Ifna16 Ifna1 Ifna4 Ifna9 Il23r Ptgs2 Sftpd Slc11a1	110557 11421 11607 11608 12475 12477 12628 12774 14961 14964 14969 14972 14990 15006 15007 15013 15015 15018 15043 15439 15962 15964 15967 15972 17228 18173 19225 20390 209590 214403 230396 230398 242519 547431	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060697	hyperekplexia 2 Aliases: HKPX2	glc-1 glc-2	172103 180086	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070223	progressive familial intrahepatic cholestasis 3 Aliases: MDR3 deficiency PFIC3 progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase	STE6	853671	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0081183	autosomal recessive intellectual developmental disorder 7	OST3	854252	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0081002	Cowden syndrome 6	Akt1	24185	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10241	thalassemia Aliases: Sickle-cell thalassemia with crisis Sickle-cell thalassemia without crisis thalassemia Hb-S disease with crisis thalassemia Hb-S disease without crisis	Tnf	21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080571	congenital disorder of glycosylation Iu Aliases: congenital disorder of glycosylation 1u	Dpm2	29640	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110219	Brugada syndrome 2 Aliases: BRGDA2	gpd1l	394623	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0060669	cerebral cavernous malformation Aliases: cavernous angiomatous malformations cerebral capillary malformations familial cavernous angioma	Kdr Pik3ca Pon1	170911 25589 84024	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9970	obesity	CNE1 DPL1 ECM14 EMI2 GCY1 GLK1 HFA1 HXK1 HXK2 IZH1 KEX2 NPP1 NPP2 PEP4 POX1 PUF3 RHO1 SEC16 SLA1 SRB8 SSN2 TDH1 TDH2 TDH3 TRM732 VVS1 YOL075C YPR1 ZWF1	850317 850391 850442 850614 850647 851241 851888 851974 852053 852102 852128 852276 852543 852639 852667 853106 853395 853465 854080 854287 855247 855301 855480 855483 855949 856020 856294 856533 856699	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110352	retinitis pigmentosa 59 Aliases: RP59	DHDDS	79947	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110967	brachydactyly type A4 Aliases: BDA4 Temtamy type brachydactyly brachymesophalangy II and V	HOXD13	3239	Homo sapiens (human)	Alliance of Genome Resources

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