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- source_evidence_literature type ECO_0000212 NP1211471.RAAKmHFf0rtS7Ks2KD_EV_YrUSwO4vLifKxahm611mAIk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1211471.RAAKmHFf0rtS7Ks2KD_EV_YrUSwO4vLifKxahm611mAIk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1211471.RAAKmHFf0rtS7Ks2KD_EV_YrUSwO4vLifKxahm611mAIk130_provenance.
- NP1211471.RAAKmHFf0rtS7Ks2KD_EV_YrUSwO4vLifKxahm611mAIk130_assertion description "[Although best known are mutations in filaggrin (FLG), mutations in other member of the fused S-100 family of proteins (ie, hornerin [hrn] and filaggrin 2 [flg-2]); the cornified envelope precursor (ie, SPRR3); mattrin, which is encoded by TMEM79 and regulates the assembly of lamellar bodies; SPINK5, which encodes the serine protease inhibitor lymphoepithelial Kazal-type trypsin inhibitor type 1; and the fatty acid transporter fatty acid transport protein 4 have all been linked to AD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1211471.RAAKmHFf0rtS7Ks2KD_EV_YrUSwO4vLifKxahm611mAIk130_provenance.
- NP1211471.RAAKmHFf0rtS7Ks2KD_EV_YrUSwO4vLifKxahm611mAIk130_assertion evidence source_evidence_literature NP1211471.RAAKmHFf0rtS7Ks2KD_EV_YrUSwO4vLifKxahm611mAIk130_provenance.
- NP1211471.RAAKmHFf0rtS7Ks2KD_EV_YrUSwO4vLifKxahm611mAIk130_assertion SIO_000772 25131691 NP1211471.RAAKmHFf0rtS7Ks2KD_EV_YrUSwO4vLifKxahm611mAIk130_provenance.
- NP1211471.RAAKmHFf0rtS7Ks2KD_EV_YrUSwO4vLifKxahm611mAIk130_assertion wasDerivedFrom befree-2016 NP1211471.RAAKmHFf0rtS7Ks2KD_EV_YrUSwO4vLifKxahm611mAIk130_provenance.
- NP1211471.RAAKmHFf0rtS7Ks2KD_EV_YrUSwO4vLifKxahm611mAIk130_assertion wasGeneratedBy ECO_0000203 NP1211471.RAAKmHFf0rtS7Ks2KD_EV_YrUSwO4vLifKxahm611mAIk130_provenance.
- befree-2016 importedOn "2016-02-19" NP1211471.RAAKmHFf0rtS7Ks2KD_EV_YrUSwO4vLifKxahm611mAIk130_provenance.