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- source_evidence_literature type ECO_0000212 NP346113.RAXh7qHXWG5mgSeWMxheM1AdgOaKH-pcrub-AO2rFMlR0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP346113.RAXh7qHXWG5mgSeWMxheM1AdgOaKH-pcrub-AO2rFMlR0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP346113.RAXh7qHXWG5mgSeWMxheM1AdgOaKH-pcrub-AO2rFMlR0130_provenance.
- befree-2016 importedOn "2016-02-19" NP346113.RAXh7qHXWG5mgSeWMxheM1AdgOaKH-pcrub-AO2rFMlR0130_provenance.
- NP346113.RAXh7qHXWG5mgSeWMxheM1AdgOaKH-pcrub-AO2rFMlR0130_assertion wasGeneratedBy ECO_0000203 NP346113.RAXh7qHXWG5mgSeWMxheM1AdgOaKH-pcrub-AO2rFMlR0130_provenance.
- NP346113.RAXh7qHXWG5mgSeWMxheM1AdgOaKH-pcrub-AO2rFMlR0130_assertion wasDerivedFrom befree-2016 NP346113.RAXh7qHXWG5mgSeWMxheM1AdgOaKH-pcrub-AO2rFMlR0130_provenance.
- NP346113.RAXh7qHXWG5mgSeWMxheM1AdgOaKH-pcrub-AO2rFMlR0130_assertion SIO_000772 11857735 NP346113.RAXh7qHXWG5mgSeWMxheM1AdgOaKH-pcrub-AO2rFMlR0130_provenance.
- NP346113.RAXh7qHXWG5mgSeWMxheM1AdgOaKH-pcrub-AO2rFMlR0130_assertion evidence source_evidence_literature NP346113.RAXh7qHXWG5mgSeWMxheM1AdgOaKH-pcrub-AO2rFMlR0130_provenance.
- NP346113.RAXh7qHXWG5mgSeWMxheM1AdgOaKH-pcrub-AO2rFMlR0130_assertion description "[Our studies on candidate genes of eye diseases in the Chinese population in Hong Kong include MYOC and TISR for primary open angle glaucoma, RHO and RP1 for retinitis pigmentosa, ABCA4 and APOE for age-related macular degeneration, RB1 for retinoblastoma, APC for familial adenomatous polyposis with congenital hypertrophy of retinal pigment epithelium, BIGH3/TGFBI for corneal dystrophies, PAX6 for aniridia and Reiger syndrome, CRYAA and CRYBB2 for cataracts, and mtDNA for Leber hereditary optic neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP346113.RAXh7qHXWG5mgSeWMxheM1AdgOaKH-pcrub-AO2rFMlR0130_provenance.