TWNK, twinkle mtDNA helicase, 56652

N. diseases: 245; N. variants: 41
Disease: PERRAULT SYNDROME 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs672601360
rs672601360
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C4015307
Disease:
PERRAULT SYNDROME 5 		0.800 GeneticVariation UNIPROT Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. 25355836 2014
dbSNP: rs672601361
rs672601361
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C4015307
Disease:
PERRAULT SYNDROME 5 		0.800 GeneticVariation UNIPROT Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. 25355836 2014
dbSNP: rs672601360
rs672601360
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C4015307
Disease:
PERRAULT SYNDROME 5 		G 0.800 CausalMutation CLINVAR
dbSNP: rs672601361
rs672601361
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C4015307
Disease:
PERRAULT SYNDROME 5 		G 0.800 CausalMutation CLINVAR
dbSNP: rs369588002
rs369588002
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C4015307
Disease:
PERRAULT SYNDROME 5 		0.700 GeneticVariation UNIPROT Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. 25355836 2014
dbSNP: rs556445621
rs556445621
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C4015307
Disease:
PERRAULT SYNDROME 5 		0.700 GeneticVariation UNIPROT Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. 25355836 2014
dbSNP: rs754081544
rs754081544
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C4015307
Disease:
PERRAULT SYNDROME 5 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs759603316
rs759603316
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C4015307
Disease:
PERRAULT SYNDROME 5 		A 0.700 CausalMutation CLINVAR