Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP5841.RACNiHjAbvWqWxR3yEIFcMiCZVhMQRVa7wt0FkQmL1nkM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5841.RACNiHjAbvWqWxR3yEIFcMiCZVhMQRVa7wt0FkQmL1nkM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5841.RACNiHjAbvWqWxR3yEIFcMiCZVhMQRVa7wt0FkQmL1nkM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5841.RACNiHjAbvWqWxR3yEIFcMiCZVhMQRVa7wt0FkQmL1nkM130_provenance.
- NP5841.RACNiHjAbvWqWxR3yEIFcMiCZVhMQRVa7wt0FkQmL1nkM130_assertion description "[In this study, we show that (1) WNT10A mutations cause not only OODD but also other forms of ectodermal dysplasia, reaching from apparently monosymptomatic severe oligodontia to Sch�pf-Schulz-Passarge syndrome, which is so far considered a unique entity by the findings of numerous cysts along eyelid margins and the increased risk of benign and malignant skin tumors; (2) WNT10A mutations are a frequent cause of ectodermal dysplasia and were found in about 9% of an unselected patient cohort; (3) about half of the heterozygotes (53.8%) show a phenotype manifestation, including mainly tooth and nail anomalies, which was not reported before in OODD; and (4) heterozygotes show a sex-biased manifestation pattern, with a significantly higher proportion of tooth anomalies in males than in females, which may implicate gender-specific differences of WNT10A expression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5841.RACNiHjAbvWqWxR3yEIFcMiCZVhMQRVa7wt0FkQmL1nkM130_provenance.
- NP5841.RACNiHjAbvWqWxR3yEIFcMiCZVhMQRVa7wt0FkQmL1nkM130_assertion evidence source_evidence_curated NP5841.RACNiHjAbvWqWxR3yEIFcMiCZVhMQRVa7wt0FkQmL1nkM130_provenance.
- NP5841.RACNiHjAbvWqWxR3yEIFcMiCZVhMQRVa7wt0FkQmL1nkM130_assertion SIO_000772 19559398 NP5841.RACNiHjAbvWqWxR3yEIFcMiCZVhMQRVa7wt0FkQmL1nkM130_provenance.
- NP5841.RACNiHjAbvWqWxR3yEIFcMiCZVhMQRVa7wt0FkQmL1nkM130_assertion wasDerivedFrom uniprot-2016 NP5841.RACNiHjAbvWqWxR3yEIFcMiCZVhMQRVa7wt0FkQmL1nkM130_provenance.
- NP5841.RACNiHjAbvWqWxR3yEIFcMiCZVhMQRVa7wt0FkQmL1nkM130_assertion wasGeneratedBy ECO_0000218 NP5841.RACNiHjAbvWqWxR3yEIFcMiCZVhMQRVa7wt0FkQmL1nkM130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP5841.RACNiHjAbvWqWxR3yEIFcMiCZVhMQRVa7wt0FkQmL1nkM130_provenance.