Disease ID | Disease name | Source of annotation with OPA3 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS165500 | OPTIC ATROPHY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 5 | OPA3, OPA1, ACO2, RTN4IP1, TMEM126A |
PS250950 | 3-METHYLGLUTACONIC ACIDURIA | ClinVar, OMIM | link to OMIM | 6 | DNAJC19, OPA3, TAZ, CLPB, AUH, SERAC1 |
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