Gene table: search width pubmed_id = 23217327


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Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Charcot-Marie-Tooth neuropathy X-linked 4 (Cowchock syndrome) - (XR)
14.46
23217327
8666389
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)
* Neuropathy, axonal motor-sensory, with deafness and mental retardation - NAMSD
* Charcot-Marie-Tooth disease, X-linked 4 (Cowchock syndrome) - COWCK
* Charcot-Marie-Tooth disease with deafness and mental retardation - NAMSD
* Combined Oxidative phosphorylation Deficiency 6 - COXPD6
* Cerebellar ataxia with neuropathy, hearing loss and intellectual disability