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: 56652
Gene Symbol: TWNK
TWNK 		twinkle mtDNA helicase 0.516 0.692 3.2E-03
CUI: C1849096
Disease: Infantile onset spinocerebellar ataxia
Infantile onset spinocerebellar ataxia 		disease 0.770 None 1.000 3 0 1997 2019
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		twinkle mtDNA helicase 0.516 0.692 3.2E-03
CUI: C1836439
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 		disease 0.700 None 1.000 3 0 2001 2019
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		twinkle mtDNA helicase 0.516 0.692 3.2E-03
CUI: C4015307
Disease: PERRAULT SYNDROME 5
PERRAULT SYNDROME 5 		disease 0.600 None 1.000 2 0 2010 2014
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		twinkle mtDNA helicase 0.516 0.692 3.2E-03
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		disease 0.300 moderate 0 0