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- source_evidence_literature type ECO_0000212 NP920821.RArYYp9j3sM4Zm214b8BQs-nD8Zpu2U-h5MwhujSU2vb8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP920821.RArYYp9j3sM4Zm214b8BQs-nD8Zpu2U-h5MwhujSU2vb8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP920821.RArYYp9j3sM4Zm214b8BQs-nD8Zpu2U-h5MwhujSU2vb8130_provenance.
- NP920821.RArYYp9j3sM4Zm214b8BQs-nD8Zpu2U-h5MwhujSU2vb8130_assertion description "[Mutation screening of AGK in further individuals with congenital cataracts and cardiomyopathy identified numerous loss-of-function mutations in an additional eight families, confirming the causal nature of AGK deficiency in Sengers syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP920821.RArYYp9j3sM4Zm214b8BQs-nD8Zpu2U-h5MwhujSU2vb8130_provenance.
- NP920821.RArYYp9j3sM4Zm214b8BQs-nD8Zpu2U-h5MwhujSU2vb8130_assertion evidence source_evidence_literature NP920821.RArYYp9j3sM4Zm214b8BQs-nD8Zpu2U-h5MwhujSU2vb8130_provenance.
- NP920821.RArYYp9j3sM4Zm214b8BQs-nD8Zpu2U-h5MwhujSU2vb8130_assertion SIO_000772 22284826 NP920821.RArYYp9j3sM4Zm214b8BQs-nD8Zpu2U-h5MwhujSU2vb8130_provenance.
- NP920821.RArYYp9j3sM4Zm214b8BQs-nD8Zpu2U-h5MwhujSU2vb8130_assertion wasDerivedFrom befree-20150227 NP920821.RArYYp9j3sM4Zm214b8BQs-nD8Zpu2U-h5MwhujSU2vb8130_provenance.
- NP920821.RArYYp9j3sM4Zm214b8BQs-nD8Zpu2U-h5MwhujSU2vb8130_assertion wasGeneratedBy ECO_0000203 NP920821.RArYYp9j3sM4Zm214b8BQs-nD8Zpu2U-h5MwhujSU2vb8130_provenance.
- befree-20150227 importedOn "2015-02-27" NP920821.RArYYp9j3sM4Zm214b8BQs-nD8Zpu2U-h5MwhujSU2vb8130_provenance.