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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 **626 - 650** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0060765	autosomal dominant Robinow syndrome 2 Aliases: DRS2	DVL1	1855	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060766	autosomal dominant Robinow syndrome 1 Aliases: DRS1	WNT5A	7474	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060767	autosomal dominant Robinow syndrome 3 Aliases: DRS3	DVL3	1857	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060768	Smith-Magenis syndrome Aliases: 17p11.2 microdeletion syndrome chromosome 17p11.2 deletion syndrome	MFAP4 RAI1	10743 4239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060770	dextro-looped transposition of the great arteries Aliases: D-TGA DTGA1 congenitally uncorrected transposition of the great arteries congenitally uncorrected transposition of the great vessels isolated ventriculoarterial discordance ventriculoarterial discordance with atrioventricular concordance	CFC1 CFC1B HSPG2 MED13L SLC19A1	23389 3339 55997 653275 6573	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060772	multiple types of congenital heart defects 6 Aliases: DTGA3 dextro-looped transposition of the great arteries 3	GDF1	2657	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060773	cleft lip-palate-ectodermal dysplasia syndrome Aliases: CLPED1 Margarita type of ectodermal dysplasia Zlotogora-Zilberman-Tenenbaum syndrome cleft lip/palate-syndactyly-pili torti syndrome syndactyly-ectodermal dysplasia-cleft/lip palate	NECTIN1	5818	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060774	congenital diarrhea	ACSL5 PLVAP WNT2B	51703 7482 83483	Homo sapiens (human)	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: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:0060777	congenital secretory sodium diarrhea 8 Aliases: DIAR8	SLC9A3	6550	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: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: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:0060786	hypomyelinating leukodystrophy Aliases: HLD	DEGS1 POLR3A POLR3B	11128 55703 8560	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:0060788	hypomyelinating leukodystrophy 10 Aliases: HLD10	PYCR2	29920	Homo sapiens (human)	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:0060790	hypomyelinating leukodystrophy 3 Aliases: HLD3 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation	AIMP1	9255	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060793	hypomyelinating leukodystrophy 5 Aliases: HLD5 hypomyelination-congenital cataract syndrome	HYCC1 HYCC2	285172 84668	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060794	hypomyelinating leukodystrophy 7 Aliases: HLD7 TACH syndrome ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy dentoleukoencephalopathy hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome leukodystrophy with oligodontia leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome tremor-ataxia-central hypomyelination syndrome	POLR3A	11128	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060796	hypomyelinating leukodystrophy 12 Aliases: HLD12	VPS11	55823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060797	hypomyelinating leukodystrophy 8 Aliases: HLD8	POLR3B	55703	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060798	hypomyelinating leukodystrophy 6 Aliases: H-ABC HABC HLD6 hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum hypomyelination with atrophy of basal ganglia and cerebellum	TUBB4A	10382	Homo sapiens (human)	Alliance of Genome Resources

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