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- source_evidence_literature type ECO_0000212 NP833466.RA6-y_AWRS_aJV0WLCWzXBEB3nb1xkxSo0sFQ--B0QaRk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP833466.RA6-y_AWRS_aJV0WLCWzXBEB3nb1xkxSo0sFQ--B0QaRk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP833466.RA6-y_AWRS_aJV0WLCWzXBEB3nb1xkxSo0sFQ--B0QaRk130_provenance.
- NP833466.RA6-y_AWRS_aJV0WLCWzXBEB3nb1xkxSo0sFQ--B0QaRk130_assertion description "[Heterozygous optic atrophy type1 (OPA1) mutations are responsible for dominant optic atrophy, and the down regulation of OPA1 expression in patients with Leber hereditary optic neuropathy may imply that Opa1 protein levels in mitochondria play a role in other spontaneous optic neuropathies as well.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP833466.RA6-y_AWRS_aJV0WLCWzXBEB3nb1xkxSo0sFQ--B0QaRk130_provenance.
- NP833466.RA6-y_AWRS_aJV0WLCWzXBEB3nb1xkxSo0sFQ--B0QaRk130_assertion evidence source_evidence_literature NP833466.RA6-y_AWRS_aJV0WLCWzXBEB3nb1xkxSo0sFQ--B0QaRk130_provenance.
- NP833466.RA6-y_AWRS_aJV0WLCWzXBEB3nb1xkxSo0sFQ--B0QaRk130_assertion SIO_000772 21552501 NP833466.RA6-y_AWRS_aJV0WLCWzXBEB3nb1xkxSo0sFQ--B0QaRk130_provenance.
- NP833466.RA6-y_AWRS_aJV0WLCWzXBEB3nb1xkxSo0sFQ--B0QaRk130_assertion wasDerivedFrom befree-20150227 NP833466.RA6-y_AWRS_aJV0WLCWzXBEB3nb1xkxSo0sFQ--B0QaRk130_provenance.
- NP833466.RA6-y_AWRS_aJV0WLCWzXBEB3nb1xkxSo0sFQ--B0QaRk130_assertion wasGeneratedBy ECO_0000203 NP833466.RA6-y_AWRS_aJV0WLCWzXBEB3nb1xkxSo0sFQ--B0QaRk130_provenance.
- befree-20150227 importedOn "2015-02-27" NP833466.RA6-y_AWRS_aJV0WLCWzXBEB3nb1xkxSo0sFQ--B0QaRk130_provenance.