Source: CLINVAR

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
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		disease 0.900 None 1.000 5 28 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 1 2008 2008
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A 		coenzyme Q8A 0.674 0.385 9.3E-11
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.150 None 1.000 0 1 2008 2019
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A 		coenzyme Q8A 0.674 0.385 9.3E-11
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		phenotype 0.100 None 0 1
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A 		coenzyme Q8A 0.674 0.385 9.3E-11
CUI: C0234518
Disease: Slurred speech
Slurred speech 		phenotype 0.100 None 0 1
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A 		coenzyme Q8A 0.674 0.385 9.3E-11
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease 0.100 None 0 1
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A 		coenzyme Q8A 0.674 0.385 9.3E-11
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.100 None 0 1
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A 		coenzyme Q8A 0.674 0.385 9.3E-11
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		group 0.100 None 0 1
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A 		coenzyme Q8A 0.674 0.385 9.3E-11
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 1
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A 		coenzyme Q8A 0.674 0.385 9.3E-11
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis 		phenotype 0.100 None 0 1