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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01395 | Autosomal recessive progressive external ophthalmoplegia | Autosomal-inherited progressive external ophthalmoplegia (PEO) is an adult-onset disease characterized by the accumulation of multiple mitochondrial DNA (mtDNA) deletions in post-mitotic tissues. Mutations ... | Nervous system disease |
(PEOB1) POLG [HSA:5428] [KO:K02332] (PEOB2) RNASEH1 [HSA:246243] [KO:K03469] (PEOB3) TK2 [HSA:7084] [KO:K00857] (PEOB4) DGUOK [HSA:1716] [KO:K00904] (PEOB5) TOP3A [HSA:7156] [KO:K03165] (PEOB6) RRM1 [HSA:6240] [KO:K10807] |
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| H02492 | Microcephaly, growth restriction, and increased sister chromatid exchange | ... mutations in BLM, is known as Bloom syndrome [DS:H01346]. Recently, MGRISCE2, caused by mutations in TOP3A, has been reported. TOP3A encodes topoisomerase III alpha, which binds to BLM as part of the BTRR ... | Congenital malformation |
(MGRISCE1) BLM [HSA:641] [KO:K10901] (MGRISCE2) TOP3A [HSA:7156] [KO:K03165] |
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