TWNK, twinkle mtDNA helicase, 56652

N. diseases: 245; N. variants: 41
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs374997012
rs374997012
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C0029089
Disease:
Ophthalmoplegia 		T 0.700 GeneticVariation CLINVAR Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 27551684 2016
dbSNP: rs374997012
rs374997012
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C0576690
Disease:
Impaired body position sense 		T 0.700 GeneticVariation CLINVAR Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 27551684 2016
dbSNP: rs374997012
rs374997012
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C0029124
Disease:
Optic Atrophy 		T 0.700 GeneticVariation CLINVAR Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 27551684 2016
dbSNP: rs374997012
rs374997012
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C1849096
Disease:
Infantile onset spinocerebellar ataxia 		T 0.700 GeneticVariation CLINVAR Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 27551684 2016
dbSNP: rs886037832
rs886037832
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C0728829
Disease:
Congenital pes cavus 		C 0.700 CausalMutation CLINVAR Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 27551684 2016
dbSNP: rs886037832
rs886037832
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C1852271
Disease:
Auditory neuropathy 		C 0.700 CausalMutation CLINVAR Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 27551684 2016
dbSNP: rs886037832
rs886037832
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C0576690
Disease:
Impaired body position sense 		C 0.700 CausalMutation CLINVAR Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 27551684 2016
dbSNP: rs886037832
rs886037832
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C0007758
Disease:
Cerebellar Ataxia 		C 0.700 CausalMutation CLINVAR Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 27551684 2016
dbSNP: rs886037832
rs886037832
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C0700078
Disease:
Decreased tendon reflex 		C 0.700 CausalMutation CLINVAR Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 27551684 2016
dbSNP: rs886037832
rs886037832
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C1849096
Disease:
Infantile onset spinocerebellar ataxia 		C 0.700 CausalMutation CLINVAR Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 27551684 2016
dbSNP: rs886037832
rs886037832
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C1295585
Disease:
Decreased vibratory sense 		C 0.700 CausalMutation CLINVAR Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 27551684 2016
dbSNP: rs886037832
rs886037832
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C0029089
Disease:
Ophthalmoplegia 		C 0.700 CausalMutation CLINVAR Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 27551684 2016
dbSNP: rs886037832
rs886037832
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C0029124
Disease:
Optic Atrophy 		C 0.700 CausalMutation CLINVAR Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 27551684 2016
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: rs758026634
rs758026634
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C1836439
Disease:
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 		C 0.700 GeneticVariation CLINVAR Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation. 24018892 2013
dbSNP: rs1554887075
rs1554887075
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C1836439
Disease:
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 		0.700 GeneticVariation UNIPROT TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. 20880070 2011
dbSNP: rs1554887097
rs1554887097
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C1836439
Disease:
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 		0.700 GeneticVariation UNIPROT TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. 20880070 2011
dbSNP: rs1554887213
rs1554887213
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C1836439
Disease:
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 		0.700 GeneticVariation UNIPROT TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. 20880070 2011
dbSNP: rs863223920
rs863223920
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C1836439
Disease:
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 		0.700 GeneticVariation UNIPROT TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. 20880070 2011
dbSNP: rs1554887075
rs1554887075
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C1836439
Disease:
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 		0.700 GeneticVariation UNIPROT The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. 20479361 2010
dbSNP: rs1554887097
rs1554887097
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C1836439
Disease:
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 		0.700 GeneticVariation UNIPROT The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. 20479361 2010
dbSNP: rs1554887213
rs1554887213
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C1836439
Disease:
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 		0.700 GeneticVariation UNIPROT The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. 20479361 2010
dbSNP: rs758026634
rs758026634
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C1836439
Disease:
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 		C 0.700 GeneticVariation CLINVAR Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity. 20659899 2010
dbSNP: rs758026634
rs758026634
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C1836439
Disease:
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 		C 0.700 GeneticVariation CLINVAR The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. 20479361 2010