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: 56997
Gene Symbol: COQ8A
COQ8A
coenzyme Q8A 0.674 0.385 9.3E-11
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
disease 0.900 None 1.000 4 0 2008 2019
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
coenzyme Q8A 0.674 0.385 9.3E-11
CUI: C3551954
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1
COENZYME Q10 DEFICIENCY, PRIMARY, 1
disease 0.600 strong 1.000 0 0 2008 2008
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
coenzyme Q8A 0.674 0.385 9.3E-11
CUI: C1843920
Disease: COENZYME Q10 DEFICIENCY
COENZYME Q10 DEFICIENCY
disease 0.330 strong 1.000 2 0 2008 2018
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
coenzyme Q8A 0.674 0.385 9.3E-11
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 None 0 0