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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 **12251 - 12275** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:2626	choroid plexus papilloma Aliases: childhood choroid plexus papilloma	Trp53	22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5940	malignant peripheral nerve sheath tumor Aliases: malignant neoplasm of the peripheral nerve Sheath	Trp53	22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:7614	meninges sarcoma Aliases: Meningeal sarcoma sarcoma of meninges	Trp53	22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1035	aggressive NK-cell leukemia Aliases: aggressive NK-cell leukaemia large granular Lymphocyte Leukemia, NK-cell type natural killer cell leukaemia natural killer cell leukemia	Trp53	22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060412	chromosome 1q41-q42 deletion syndrome Aliases: 1q41-q42 microdeletion syndrome 1q41q42 microdeletion syndrome	Trp53bp2	209456	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070355	overactive bladder syndrome Aliases: OAB overactive bladder urge syndrome urgency-frequency syndrome	TrpA1	39015	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111729	familial episodic pain syndrome 1 Aliases: FEPS1	TrpA1	39015	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111729	familial episodic pain syndrome 1 Aliases: FEPS1	Trpa1	277328	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111729	familial episodic pain syndrome 1 Aliases: FEPS1	Trpa1	312896	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111744	cerebellar ataxia type 41 Aliases: SCA41	Trpc3	22065	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111129	focal segmental glomerulosclerosis 2 Aliases: FSGS2	Trpc6	22068	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060394	chromosome 15q13.3 microdeletion syndrome Aliases: 15q13.3 microdeletion syndrome	Trpm1	17364	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110867	congenital stationary night blindness 1C Aliases: CSNB1C congenital stationary night blindness 1C autosomal recessive	Trpm1	17364	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060394	chromosome 15q13.3 microdeletion syndrome Aliases: 15q13.3 microdeletion syndrome	Trpm1	361586	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110867	congenital stationary night blindness 1C Aliases: CSNB1C congenital stationary night blindness 1C autosomal recessive	Trpm1	361586	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111076	progressive familial heart block type IB Aliases: PFHB1B	Trpm4	68667	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080766	erythrokeratodermia variabilis et progressiva 6	Trpm4	68667	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2548	reflex epilepsy Aliases: epilepsy, sensory-induced	Trpv1	193034	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2548	reflex epilepsy Aliases: epilepsy, sensory-induced	Trpv1	83810	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111539	parastremmatic dwarfism Aliases: parastremmatic dysplasia	Trpv4	63873	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111215	autosomal dominant distal hereditary motor neuronopathy 8 Aliases: DHMN8 HMN8 autosomal dominant benign distal spinal muscular atrophy autosomal dominant congenital benign spinal muscular atrophy congenital benign spinal muscular atrophy with contractures congenital nonprogressive spinal muscular atrophy distal hereditary motor neuronopathy type 8 distal hereditary motor neuropathy type VIII	Trpv4	63873	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111552	scapuloperoneal spinal muscular atrophy Aliases: SPSMA neurogenic scapuloperoneal amyotrophy, New England type scapuloperoneal neuronopathy	Trpv4	63873	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111514	metatropic dysplasia Aliases: metatropic dwarfism	Trpv4	63873	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111554	spondylometaphyseal dysplasia Kozlowski type Aliases: Jequier Kozlowski skeletal dysplasia Jequier-Kozlowski syndrome SMD Kozlowski type dysmorphism arthrogryposis skeletal maturation advanced skeletal dysplasia Jequier-Kozlowski type	Trpv4	63873	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111553	spondyloepiphyseal dysplasia Maroteaux type Aliases: Brachyolmia Type 2 Pseudo-Morquio syndrome type 2 SED, Maroteaux type spondyloepiphyseal dysplasia of Maroteaux	Trpv4	63873	Mus musculus (house mouse)	Alliance of Genome Resources

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