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- source_evidence_literature type ECO_0000212 NP433914.RAfj0CcwrVUqcYNDM3X7by4R216r5bhVXFkfo7ivqc0kw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP433914.RAfj0CcwrVUqcYNDM3X7by4R216r5bhVXFkfo7ivqc0kw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP433914.RAfj0CcwrVUqcYNDM3X7by4R216r5bhVXFkfo7ivqc0kw130_provenance.
- NP433914.RAfj0CcwrVUqcYNDM3X7by4R216r5bhVXFkfo7ivqc0kw130_assertion description "[Mutations in GLUD1, HADH, GCK and HNF4A genes were sought in patients with diazoxide-responsive CHI with hyperammonaemia (GLUD1), raised 3-hydroxybutyrylcarnitine and/or consanguinity (HADH), positive family history (GCK) or when CHI was diagnosed within the first week of life (HNF4A).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP433914.RAfj0CcwrVUqcYNDM3X7by4R216r5bhVXFkfo7ivqc0kw130_provenance.
- NP433914.RAfj0CcwrVUqcYNDM3X7by4R216r5bhVXFkfo7ivqc0kw130_assertion evidence source_evidence_literature NP433914.RAfj0CcwrVUqcYNDM3X7by4R216r5bhVXFkfo7ivqc0kw130_provenance.
- NP433914.RAfj0CcwrVUqcYNDM3X7by4R216r5bhVXFkfo7ivqc0kw130_assertion SIO_000772 23345197 NP433914.RAfj0CcwrVUqcYNDM3X7by4R216r5bhVXFkfo7ivqc0kw130_provenance.
- NP433914.RAfj0CcwrVUqcYNDM3X7by4R216r5bhVXFkfo7ivqc0kw130_assertion wasDerivedFrom befree-20150227 NP433914.RAfj0CcwrVUqcYNDM3X7by4R216r5bhVXFkfo7ivqc0kw130_provenance.
- NP433914.RAfj0CcwrVUqcYNDM3X7by4R216r5bhVXFkfo7ivqc0kw130_assertion wasGeneratedBy ECO_0000203 NP433914.RAfj0CcwrVUqcYNDM3X7by4R216r5bhVXFkfo7ivqc0kw130_provenance.
- befree-20150227 importedOn "2015-02-27" NP433914.RAfj0CcwrVUqcYNDM3X7by4R216r5bhVXFkfo7ivqc0kw130_provenance.