Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
0.120 GeneticVariation disease BEFREE Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1. 27150940 2016
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
0.120 GeneticVariation disease BEFREE An OPA1 missense mutation, c.239A→G (p.Y80C), was identified in an 11-year-old black girl with optic atrophy and peripheral sensorimotor neuropathy in her lower limbs. 21036400 2011
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
0.120 Biomarker disease HPO