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- source_evidence_literature type ECO_0000212 NP668577.RAr3MFqZzgHIw0bCs2UPHWPm_D5UrjsBpmQbDkipwdD1Q130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP668577.RAr3MFqZzgHIw0bCs2UPHWPm_D5UrjsBpmQbDkipwdD1Q130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP668577.RAr3MFqZzgHIw0bCs2UPHWPm_D5UrjsBpmQbDkipwdD1Q130_provenance.
- NP668577.RAr3MFqZzgHIw0bCs2UPHWPm_D5UrjsBpmQbDkipwdD1Q130_assertion description "[Dent's disease, an X-linked disorder characterized by low molecular weight proteinuria, hypercalciuria and nephrolithiasis, is due to mutations of the chloride/proton antiporter 5, CLC-5; ADHH is associated with activating mutations of the CaSR, which is a G-protein-coupled receptor; hypophosphatemic hypercalciuric nephrolithiasis associated with rickets is due to mutations in the type 2c sodium-phosphate co-transporter (NPT2c); and familial hypomagnesemia with hypercalciuria is due to mutations of paracellin-1, which is a member of the claudin family of membrane proteins that form the intercellular tight junction barrier in a variety of epithelia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP668577.RAr3MFqZzgHIw0bCs2UPHWPm_D5UrjsBpmQbDkipwdD1Q130_provenance.
- NP668577.RAr3MFqZzgHIw0bCs2UPHWPm_D5UrjsBpmQbDkipwdD1Q130_assertion evidence source_evidence_literature NP668577.RAr3MFqZzgHIw0bCs2UPHWPm_D5UrjsBpmQbDkipwdD1Q130_provenance.
- NP668577.RAr3MFqZzgHIw0bCs2UPHWPm_D5UrjsBpmQbDkipwdD1Q130_assertion SIO_000772 18446382 NP668577.RAr3MFqZzgHIw0bCs2UPHWPm_D5UrjsBpmQbDkipwdD1Q130_provenance.
- NP668577.RAr3MFqZzgHIw0bCs2UPHWPm_D5UrjsBpmQbDkipwdD1Q130_assertion wasDerivedFrom befree-2016 NP668577.RAr3MFqZzgHIw0bCs2UPHWPm_D5UrjsBpmQbDkipwdD1Q130_provenance.
- NP668577.RAr3MFqZzgHIw0bCs2UPHWPm_D5UrjsBpmQbDkipwdD1Q130_assertion wasGeneratedBy ECO_0000203 NP668577.RAr3MFqZzgHIw0bCs2UPHWPm_D5UrjsBpmQbDkipwdD1Q130_provenance.
- befree-2016 importedOn "2016-02-19" NP668577.RAr3MFqZzgHIw0bCs2UPHWPm_D5UrjsBpmQbDkipwdD1Q130_provenance.