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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 **13751 - 13775** of **15957** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0060789	hypomyelinating leukodystrophy 4 Aliases: HLD4 MitCHAP60 disease Pelizaeus-Merzbacher-like disease due to HSPD1 mutation mitochondrial HSP60 chaperonopathy	Hspd1	63868	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060789	hypomyelinating leukodystrophy 4 Aliases: HLD4 MitCHAP60 disease Pelizaeus-Merzbacher-like disease due to HSPD1 mutation mitochondrial HSP60 chaperonopathy	HSPD1	3329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060788	hypomyelinating leukodystrophy 10 Aliases: HLD10	PYCR2	29920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060787	hypomyelinating leukodystrophy 2 Aliases: HLD2 PMLD1 Pelizaeus-Merzbacher-like disease 1 Pelizaeus-Merzbacher-like disease due to GJC2 mutation	GJC2	57165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060786	hypomyelinating leukodystrophy Aliases: HLD	DEGS1 POLR3A POLR3B	11128 55703 8560	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060785	adult-onset autosomal dominant demyelinating leukodystrophy Aliases: ADLD adult-onset autosomal dominant leukodystrophy autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease	Lmnb1	16906	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060785	adult-onset autosomal dominant demyelinating leukodystrophy Aliases: ADLD adult-onset autosomal dominant leukodystrophy autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease	Lmnb1	116685	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060785	adult-onset autosomal dominant demyelinating leukodystrophy Aliases: ADLD adult-onset autosomal dominant leukodystrophy autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease	LMNB1	4001	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060781	congenital secretory sodium diarrhea 3 Aliases: congenital secretory sodium diarrhea 3 syndromic congenital secretory sodium diarrhea 3 with or without other congenital anomalies congenital secretory sodium diarrhoea 3 congenital secretory sodium diarrhoea 3 syndromic congenital secretory sodium diarrhoea 3 with or without other congenital anomalies	Spint2	20733	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060781	congenital secretory sodium diarrhea 3 Aliases: congenital secretory sodium diarrhea 3 syndromic congenital secretory sodium diarrhea 3 with or without other congenital anomalies congenital secretory sodium diarrhoea 3 congenital secretory sodium diarrhoea 3 syndromic congenital secretory sodium diarrhoea 3 with or without other congenital anomalies	SPINT2	10653	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: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:0060777	congenital secretory sodium diarrhea 8 Aliases: DIAR8	nhx-3 nhx-9	178126 183811	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060777	congenital secretory sodium diarrhea 8 Aliases: DIAR8	SLC9A3	6550	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	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:0060775	microvillus inclusion disease Aliases: Davidson disease MVD congenital familial protracted diarrhea with enterocyte brush-border abnormalities congenital microvillus atrophy diarrhea 2 with microvillus atrophy intractable diarrhea of infancy	CDC42	998	Homo sapiens (human)	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

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