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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 **10001 - 10025** of **15957** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism	Source
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	IGF2 IGFALS IGFBP3 PMM1 PMM2	3481 3483 3486 5372 5373	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	Pmm2	39436	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	F52B11.2	178364	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060774	congenital diarrhea	Acsl5 Plvap Wnt2b	22414 433256 84094	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060774	congenital diarrhea	Plvap	56765	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060774	congenital diarrhea	wnt2b.L	378566	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0060774	congenital diarrhea	cwn-2	177870	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060774	congenital diarrhea	ACSL5 PLVAP WNT2B	51703 7482 83483	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060778	congenital diarrhea 7 with exudative enteropathy Aliases: congenital chronic diarrhea with exudative enteropathy congenital chronic diarrhea with protein-losing enteropathy congenital chronic diarrhoea with exudative enteropathy congenital chronic diarrhoea with protein-losing enteropathy congenital diarrhoea 7 with exudative enteropathy	DGAT1	8694	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060780	congenital diarrhea 6 Aliases: chronic diarrhea due to guanylate cyclase 2C overactivity chronic diarrhoea due to guanylate cyclase 2C overactivity congenital diarrhoea 6	GUCY2C	2984	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060780	congenital diarrhea 6 Aliases: chronic diarrhea due to guanylate cyclase 2C overactivity chronic diarrhoea due to guanylate cyclase 2C overactivity congenital diarrhoea 6	gcy-27	191654	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060780	congenital diarrhea 6 Aliases: chronic diarrhea due to guanylate cyclase 2C overactivity chronic diarrhoea due to guanylate cyclase 2C overactivity congenital diarrhoea 6	Gucy2c	14917	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060780	congenital diarrhea 6 Aliases: chronic diarrhea due to guanylate cyclase 2C overactivity chronic diarrhoea due to guanylate cyclase 2C overactivity congenital diarrhoea 6	Gucy2c	25711	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060776	congenital diarrhea 5 with tufting enteropathy Aliases: DIAR5 congenital diarrhoea 5 with tufting enteropathy congenital familial intractable diarrhea with epithelial or epithelium abnormalities congenital familial intractable diarrhoea with epithelial or epithelium abnormalities congenital tufting enteropathy tufting enteropathy	Epcam	171577	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060776	congenital diarrhea 5 with tufting enteropathy Aliases: DIAR5 congenital diarrhoea 5 with tufting enteropathy congenital familial intractable diarrhea with epithelial or epithelium abnormalities congenital familial intractable diarrhoea with epithelial or epithelium abnormalities congenital tufting enteropathy tufting enteropathy	EPCAM	4072	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060776	congenital diarrhea 5 with tufting enteropathy Aliases: DIAR5 congenital diarrhoea 5 with tufting enteropathy congenital familial intractable diarrhea with epithelial or epithelium abnormalities congenital familial intractable diarrhoea with epithelial or epithelium abnormalities congenital tufting enteropathy tufting enteropathy	Epcam	17075	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3827	congenital diaphragmatic hernia Aliases: Diaphragmatic Hernia	ace ndst1a ndst1b pdgfra vegfaa	100329944 30682 386856 565980 570459	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:3827	congenital diaphragmatic hernia Aliases: Diaphragmatic Hernia	Ace Agtr2 Atp7a Bmp4 Cbl Ep300 Frem1 Gata4 Htr2a Igf2 Igfbp3 Lcn2 Lrp1 Myrf Ndst1 Nos3 Nr2f2 Pdgfra Pls3 Sftpb Slc6a4 Slit2 Slit3 Sod1 Sod2 Tnf Vegfa	102866 11421 11609 11819 11977 12159 12402 14463 15531 15558 15567 16002 16009 16819 16971 18127 18595 20388 20563 20564 20655 20656 21926 22339 225908 328572 329872	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3827	congenital diaphragmatic hernia Aliases: Diaphragmatic Hernia	acn-1 dbl-1 hst-1 myrf-1 myrf-2 ver-1	174614 175182 177675 179068 180780 181229	Caenorhabditis elegans	Alliance of Genome Resources
DOID:3827	congenital diaphragmatic hernia Aliases: Diaphragmatic Hernia	myrf.L	447583	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:3827	congenital diaphragmatic hernia Aliases: Diaphragmatic Hernia	Ace Agtr2 Atp7a Htr2a Igf2 Igfbp3 Lcn2 Lrp1 Ndst1 Nos3 Pdgfra Sftpa1 Sftpb Slc6a4 Slit3 Sod2 Tnf Vegfa	170496 192155 24182 24310 24483 24484 24600 24773 24787 24835 24941 25267 25553 29595 29633 299858 83467 83785	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3827	congenital diaphragmatic hernia Aliases: Diaphragmatic Hernia	ACE AGTR2 ALDH1A2 ATP7A BMP4 CBL ELN EP300 FREM1 GATA4 HTR2A IGF2 IGFBP3 IGFBP5 LCN2 LRP1 MYRF NDST1 NOS3 NR2F2 PDGFRA PLS3 SFTPA1 SFTPA2 SFTPB SLC6A4 SLIT2 SLIT3 SOD1 SOD2 SOX7 TNF VEGFA	158326 1636 186 2006 2033 2626 3340 3356 3481 3486 3488 3934 4035 4846 5156 5358 538 6439 652 6532 653509 6586 6647 6648 7026 7124 729238 7422 745 83595 867 8854 9353	Homo sapiens (human)	Alliance of Genome Resources
DOID:3827	congenital diaphragmatic hernia Aliases: Diaphragmatic Hernia	Acer Ance SerT Sod3 dpp sfl sli	33432 34189 34805 36232 36746 37895 38736	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3827	congenital diaphragmatic hernia Aliases: Diaphragmatic Hernia	ace ndst1	100144634 496577	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0111595	congenital contractural arachnodactyly Aliases: Beals syndrome Beals-Hecht syndrome CCA arachnodactyly, contractural Beals type contractures, multiple with arachnodactyly distal arthrogryposis type 9 ear anomalies-contractures-dysplasia of bone with kyphoscoliosis	FBN2	2201	Homo sapiens (human)	Alliance of Genome Resources

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