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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1351 - 1375** of **5716** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0080047	pseudoachondroplasia Aliases: SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC pseudoachondroplastic dysplasia	Comp	12845	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080050	acromesomelic dysplasia, Maroteaux type Aliases: acromesomelic dysplasia-1	Npr2	230103	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080050	acromesomelic dysplasia, Maroteaux type Aliases: acromesomelic dysplasia-1	NPR2	4882	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080051	acromesomelic dysplasia, Hunter-Thompson type Aliases: acromesomelic dwarfism acromesomelic dysplasia-2C	Gdf5	14563	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080051	acromesomelic dysplasia, Hunter-Thompson type Aliases: acromesomelic dwarfism acromesomelic dysplasia-2C	GDF5	8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080052	acromesomelic dysplasia, Grebe type Aliases: acromesomelic dysplasia-2A grebe chondrodysplasia	GDF5	8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080052	acromesomelic dysplasia, Grebe type Aliases: acromesomelic dysplasia-2A grebe chondrodysplasia	Gdf5	14563	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080053	pseudohypoparathyroidism type 1A Aliases: Albright hereditary osteodystrophy Albright's hereditary osteodystrophy PHP Ia	Gnas	14683	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080053	pseudohypoparathyroidism type 1A Aliases: Albright hereditary osteodystrophy Albright's hereditary osteodystrophy PHP Ia	GNAS	2778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080054	achondrogenesis type IA Aliases: achondrogenesis Houston-Harris type	TRIP11	9321	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080055	achondrogenesis type IB Aliases: achondrogenesis Fraccaro type	SLC26A2	1836	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080056	achondrogenesis type II	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080056	achondrogenesis type II	Col2a1	12824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080058	autosomal recessive spinocerebellar ataxia 14 Aliases: SCAR14	SPTBN2	6712	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080059	autosomal recessive spinocerebellar ataxia 7 Aliases: SCAR7	TPP1	1200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080061	autosomal recessive spinocerebellar ataxia 2 Aliases: SCAR2	PMPCA	23203	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080062	autosomal recessive spinocerebellar ataxia 13 Aliases: SCAR13	GRM1	2911	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080062	autosomal recessive spinocerebellar ataxia 13 Aliases: SCAR13	Grm1	14816	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080065	autosomal recessive spinocerebellar ataxia 19 Aliases: Lichtenstein-Knorr syndrome SCAR19	SLC9A1	6548	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080066	autosomal recessive spinocerebellar ataxia 20 Aliases: SCAR20	MDM1	854867	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080070	mucolipidosis II alpha/beta Aliases: I-cell disease inclusion-cell disease mucolipidosis II	Gnptab	432486	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080070	mucolipidosis II alpha/beta Aliases: I-cell disease inclusion-cell disease mucolipidosis II	GNPTAB	79158	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080070	mucolipidosis II alpha/beta Aliases: I-cell disease inclusion-cell disease mucolipidosis II	gnptab	553365	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080071	mucolipidosis III alpha/beta Aliases: mucolipidosis III pseudo-Hurler polydystrophy	GNPTAB	79158	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080072	intestinal pseudo-obstruction Aliases: Chronic intestinal pseudo-obstruction neuronal intestinal dysplasia	Nup35 Spry2	24064 69482	Mus musculus (house mouse)	Alliance of Genome Resources

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