Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0009141 | HP:0009141 | Depletion of mitochondrial DNA in muscle tissue | 0 | LIG3 CL E G H | 3980 | 6600 | OMIM:619780 | MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20 | | | | 1 | | |
HP:0009141 | HP:0009141 | Depletion of mitochondrial DNA in muscle tissue | 0 | MGME1 CL E G H | 92667 | 16205 | OMIM:615084 | Mitochondrial DNA depletion syndrome 11 | | | | 11 | | |
HP:0009141 | HP:0009141 | Depletion of mitochondrial DNA in muscle tissue | 0 | POLG CL E G H | 5428 | 9179 | OMIM:613662 | Mitochondrial DNA depletion syndrome 4B (mngie type) | | | | 464 | | |
HP:0009141 | HP:0009141 | Depletion of mitochondrial DNA in muscle tissue | 0 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | | | | 464 | | |
HP:0009141 | HP:0009141 | Depletion of mitochondrial DNA in muscle tissue | 0 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | | | | 464 | | |
HP:0009141 | HP:0009141 | Depletion of mitochondrial DNA in muscle tissue | 0 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0009141 | HP:0009141 | Depletion of mitochondrial DNA in muscle tissue | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:610131 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | | | | 45 | | |
HP:0009141 | HP:0009141 | Depletion of mitochondrial DNA in muscle tissue | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:613077 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | | | | 125 | | |
HP:0009141 | HP:0009141 | Depletion of mitochondrial DNA in muscle tissue | 0 | SLC25A10 CL E G H | 1468 | 10980 | OMIM:618972 | MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19 | | | | | | |
HP:0009141 | HP:0009141 | Depletion of mitochondrial DNA in muscle tissue | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:615418 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) | | | | 68 | | |
HP:0009141 | HP:0009141 | Depletion of mitochondrial DNA in muscle tissue | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:617184 | Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant | | | | 68 | | |
HP:0009141 | HP:0009141 | Depletion of mitochondrial DNA in muscle tissue | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:609283 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | | | | 68 | | |
HP:0009141 | HP:0009141 | Depletion of mitochondrial DNA in muscle tissue | 0 | SUCLG1 CL E G H | 8802 | 11449 | OMIM:245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | | | | 60 | | |
HP:0009141 | HP:0009141 | Depletion of mitochondrial DNA in muscle tissue | 0 | TK2 CL E G H | 7084 | 11831 | OMIM:609560 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | . | | | 103 | | |
HP:0009141 | HP:0009141 | Depletion of mitochondrial DNA in muscle tissue | 0 | TOP3A CL E G H | 7156 | 11992 | OMIM:618097 | Microcephaly, growth restriction, and increased sister chromatid exchange 2 | | | | | | |
HP:0009141 | HP:0009141 | Depletion of mitochondrial DNA in muscle tissue | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | | | | 113 | | |
HP:0009141 | HP:0009141 | Depletion of mitochondrial DNA in muscle tissue | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0009141 | HP:0003689 | Multiple mitochondrial DNA deletions | 1 | LIG3 CL E G H | 3980 | 6600 | OMIM:619780 | MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20 | | | | 1 | | |
HP:0009141 | HP:0003689 | Multiple mitochondrial DNA deletions | 1 | MGME1 CL E G H | 92667 | 16205 | OMIM:615084 | Mitochondrial DNA depletion syndrome 11 | | | | 11 | | |
HP:0009141 | HP:0003689 | Multiple mitochondrial DNA deletions | 1 | POLG CL E G H | 5428 | 9179 | OMIM:613662 | Mitochondrial DNA depletion syndrome 4B (mngie type) | | | | 464 | | |
HP:0009141 | HP:0003689 | Multiple mitochondrial DNA deletions | 1 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | . | | | 464 | | |
HP:0009141 | HP:0003689 | Multiple mitochondrial DNA deletions | 1 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | . | | | 464 | | |
HP:0009141 | HP:0003689 | Multiple mitochondrial DNA deletions | 1 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 464 | | |
HP:0009141 | HP:0003689 | Multiple mitochondrial DNA deletions | 1 | POLG2 CL E G H | 11232 | 9180 | OMIM:610131 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | . | | | 45 | | |
HP:0009141 | HP:0003689 | Multiple mitochondrial DNA deletions | 1 | RRM2B CL E G H | 50484 | 17296 | OMIM:613077 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | . | | | 125 | | |
HP:0009141 | HP:0003689 | Multiple mitochondrial DNA deletions | 1 | SLC25A4 CL E G H | 291 | 10990 | OMIM:615418 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) | | | | 68 | | |
HP:0009141 | HP:0003689 | Multiple mitochondrial DNA deletions | 1 | SLC25A4 CL E G H | 291 | 10990 | OMIM:609283 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | . | | | 68 | | |
HP:0009141 | HP:0003689 | Multiple mitochondrial DNA deletions | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | . | | | 113 | | |
HP:0009141 | HP:0003689 | Multiple mitochondrial DNA deletions | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 113 | | |