Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 80207
Gene Symbol: OPA3
OPA3
outer mitochondrial membrane lipid metabolism regulator OPA3 0.653 0.385 0.57
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3
disease 0.900 None 1.000 2 0 2001 2016
Entrez Id: 80207
Gene Symbol: OPA3
OPA3
outer mitochondrial membrane lipid metabolism regulator OPA3 0.653 0.385 0.57
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
disease 0.710 None 1.000 2 0 2001 2016
Entrez Id: 80207
Gene Symbol: OPA3
OPA3
outer mitochondrial membrane lipid metabolism regulator OPA3 0.653 0.385 0.57
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1
disease 0.370 None 1.000 1 0 2004 2015
Entrez Id: 80207
Gene Symbol: OPA3
OPA3
outer mitochondrial membrane lipid metabolism regulator OPA3 0.653 0.385 0.57
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 limited 0 0