Progressive external ophthalmoplegia with mitochondrial dna deletions

Disease Term Disease ID Gene Symbol Classification References Source
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 C4310733 DGUOK Causal Pathogenic evidence from ClinVar 23043144 ClinVar
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 C1834846 POLG Causal Pathogenic evidence from ClinVar 11431686, 11897778, 12210792, 15351195, 15534189, 17420318, 17846414, 18575922, 19478085, 20220442, 21880868, 23545419, 25929793, 27604308, 28837072 ClinVar
POLG2 Causal Pathogenic evidence from ClinVar 21555342 ClinVar
RRM2B Causal Pathogenic evidence from ClinVar 19664747, 21646632 ClinVar
SLC25A4 Causal Pathogenic evidence from ClinVar 10926541, 21519523 ClinVar
TWNK Causal Pathogenic evidence from ClinVar 11431692, 21519523 ClinVar
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE C1850303 POLG Causal Pathogenic evidence from ClinVar 11431686 ClinVar
TK2 Causal Pathogenic evidence from ClinVar 21937588 ClinVar
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 C4225153 POLG Causal Pathogenic evidence from ClinVar 11431686, 12565911, 12707443, 12872260, 12975295, 14635118, 15349879, 15351195, 15477547, 15689359, 15824347, 15917273, 16024923, 16401742, 16621917, 16634032, 16639411, 20576279, 20818383, 20837861, 21515089, 21647632, 21993618, 22006280, 22189570, 22342071, 23212759, 23448099, 25929793, 27604308 ClinVar
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 C1864668 POLG2 Causal Pathogenic evidence from ClinVar 16685652, 21555342, 27604308, 30157269, 31286721 ClinVar
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 C4225312 RNASEH1 Causal Pathogenic evidence from ClinVar 26094573 ClinVar
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 C2751319 RRM2B Causal Pathogenic evidence from ClinVar 25929793, 27483465, 27604308 ClinVar
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 C1836460 SLC25A4 Causal Pathogenic evidence from ClinVar 10926541, 11756613, 12112115, 12707443, 15792871, 18575922, 27532257, 27604308, 27693233 ClinVar
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 C4310734 TK2 Causal Pathogenic evidence from ClinVar 21937588 ClinVar
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 C4748184 TOP3A Causal Pathogenic evidence from ClinVar 29290614 ClinVar
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 C1836439 TWNK Causal Pathogenic evidence from ClinVar 11431692, 12163192, 12921794, 15668446, 16639411, 17614277, 18396044, 18575922, 19353676, 19428252, 19513767, 20479361, 20659899, 20880070, 24018892, 27604308, 30391088 ClinVar
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 6 C3554599 DNA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23352259 -