FDXR, ferredoxin reductase, 2232

N. diseases: 103; N. variants: 7
Disease: AUDITORY NEUROPATHY AND OPTIC ATROPHY ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs752143061
rs752143061
Entrez Id: 2232
Gene Symbol: FDXR
FDXR
CUI: C4521678
Disease:
AUDITORY NEUROPATHY AND OPTIC ATROPHY 		A 0.700 GeneticVariation CLINVAR FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases. 28965846 2017
dbSNP: rs752143061
rs752143061
Entrez Id: 2232
Gene Symbol: FDXR
FDXR
CUI: C4521678
Disease:
AUDITORY NEUROPATHY AND OPTIC ATROPHY 		A 0.700 CausalMutation CLINVAR