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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 **2301 - 2325** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:6652	diffuse idiopathic skeletal hyperostosis Aliases: Ankylosing vertebral hyperostosis DISH Disseminated idiopathic skeletal hyperostosis	Slc29a1	63997	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110661	congenital myasthenic syndrome 20 Aliases: CMS20 congenital myasthenic syndrome 20 presynaptic	Slc5a7	63993	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111199	autosomal dominant distal hereditary motor neuronopathy 7 Aliases: DHMN7A DHMNVPy HMN VIIA HMN7A Harper-Young myopath dHMN7 distal hereditary motor neuronopathy type 7 distal hereditary motor neuropathy type VIIA distal spinal muscular atrophy with vocal cord paralysis distal spinal muscular atrophy with vocal cord paralysis type 7A	Slc5a7	63993	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090052	dystonia 24	ANO3	63982	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081157	dilated cardiomyopathy 1LL	PRDM16	63976	Homo sapiens (human)	Alliance of Genome Resources
DOID:6652	diffuse idiopathic skeletal hyperostosis Aliases: Ankylosing vertebral hyperostosis DISH Disseminated idiopathic skeletal hyperostosis	Slc29a1	63959	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070294	primary autosomal recessive microcephaly 10 Aliases: MCPH10	ZNF335	63925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080533	Carney-Stratakis syndrome	SDHB SDHC SDHD	6390 6391 6392	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111608	distal arthrogryposis type 5 Aliases: DA5 DAIIB arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome distal arthrogryposis type IIB distal arthrogryposis with ophthalmoplegia oculomelic amyoplasia	PIEZO2	63895	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111607	distal arthrogryposis type 3 Aliases: DA3 Gordon syndrome camptodactyly-cleft palate-clubfoot syndrome distal arthrogryposis multiplex congenita type IIA	PIEZO2	63895	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111354	arthrogryposis, renal dysfunction, and cholestasis 2 Aliases: ARCS2	VIPAS39	63894	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110435	dilated cardiomyopathy 1GG Aliases: CMD1GG	SDHA	6389	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060537	mitochondrial complex II deficiency Aliases: isolated mitochondrial respiratory chain complex II deficiency isolated succinate-CoQ reductase deficiency isolated succinate-coenzyme Q reductase deficiency isolated succinate-ubiquinone reductase deficiency	SDHA SDHB SDHD	6389 6390 6392	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110223	Brugada syndrome 6 Aliases: BRGDA6	Kcne3	63883	Rattus norvegicus (Norway rat)	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:0110182	Charcot-Marie-Tooth disease axonal type 2C Aliases: CMT2C Charcot-Marie-Tooth neuropathy type 2C HMSN2C autosomal cominant axonal Charcot-Marie-Tooth disease type 2C autosomal dominant Charcot-Marie-Tooth disease type 2C hereditary motor and sensory neuropathy type IIc	Trpv4	63873	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111539	parastremmatic dwarfism Aliases: parastremmatic dysplasia	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
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: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:0111514	metatropic dysplasia Aliases: metatropic dwarfism	Trpv4	63873	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110766	hereditary spastic paraplegia 13 Aliases: SPG13 autosomal dominant spastic paraplegia 13	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	63868	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:75	lymphatic system disease Aliases: Lymphangiopathy Lymphatic disease disease of lympoid system disorder of lymph node and lymphatics disorder of lymphatic system disorder of lymphoid system lymphatic disorder lympoid system disease	Lgmn	63865	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060810	syndromic X-linked intellectual disability type 10 Aliases: HSD10 deficiency, atypical type HSD10 disease, atypical type MRXS10 X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome mental retardation, X-linked syndromic 10	Hsd17b10	63864	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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