Progressive external ophthalmoplegia with mitochondrial dna deletions

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