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- source_evidence_literature type ECO_0000212 NP968527.RALX_LRNVEzeWa5J5nVQEsjor-V6XYcfpUK9zqr6wTqMo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP968527.RALX_LRNVEzeWa5J5nVQEsjor-V6XYcfpUK9zqr6wTqMo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP968527.RALX_LRNVEzeWa5J5nVQEsjor-V6XYcfpUK9zqr6wTqMo130_provenance.
- NP968527.RALX_LRNVEzeWa5J5nVQEsjor-V6XYcfpUK9zqr6wTqMo130_assertion description "[We identified a missense change in LOXHD1, a gene causing progressive hearing loss in humans, as the sole variant capable of explaining the phenotype in this pedigree.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP968527.RALX_LRNVEzeWa5J5nVQEsjor-V6XYcfpUK9zqr6wTqMo130_provenance.
- NP968527.RALX_LRNVEzeWa5J5nVQEsjor-V6XYcfpUK9zqr6wTqMo130_assertion evidence source_evidence_literature NP968527.RALX_LRNVEzeWa5J5nVQEsjor-V6XYcfpUK9zqr6wTqMo130_provenance.
- NP968527.RALX_LRNVEzeWa5J5nVQEsjor-V6XYcfpUK9zqr6wTqMo130_assertion SIO_000772 22341973 NP968527.RALX_LRNVEzeWa5J5nVQEsjor-V6XYcfpUK9zqr6wTqMo130_provenance.
- NP968527.RALX_LRNVEzeWa5J5nVQEsjor-V6XYcfpUK9zqr6wTqMo130_assertion wasDerivedFrom befree-20150227 NP968527.RALX_LRNVEzeWa5J5nVQEsjor-V6XYcfpUK9zqr6wTqMo130_provenance.
- NP968527.RALX_LRNVEzeWa5J5nVQEsjor-V6XYcfpUK9zqr6wTqMo130_assertion wasGeneratedBy ECO_0000203 NP968527.RALX_LRNVEzeWa5J5nVQEsjor-V6XYcfpUK9zqr6wTqMo130_provenance.
- befree-20150227 importedOn "2015-02-27" NP968527.RALX_LRNVEzeWa5J5nVQEsjor-V6XYcfpUK9zqr6wTqMo130_provenance.