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- source_evidence_literature type ECO_0000212 NP512545.RAI7KHcEuqaWaG41B4bUDAbq6C5gxRPwH_9kDUpE_PMkI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP512545.RAI7KHcEuqaWaG41B4bUDAbq6C5gxRPwH_9kDUpE_PMkI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP512545.RAI7KHcEuqaWaG41B4bUDAbq6C5gxRPwH_9kDUpE_PMkI130_provenance.
- NP512545.RAI7KHcEuqaWaG41B4bUDAbq6C5gxRPwH_9kDUpE_PMkI130_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." NP512545.RAI7KHcEuqaWaG41B4bUDAbq6C5gxRPwH_9kDUpE_PMkI130_provenance.
- NP512545.RAI7KHcEuqaWaG41B4bUDAbq6C5gxRPwH_9kDUpE_PMkI130_assertion evidence source_evidence_literature NP512545.RAI7KHcEuqaWaG41B4bUDAbq6C5gxRPwH_9kDUpE_PMkI130_provenance.
- NP512545.RAI7KHcEuqaWaG41B4bUDAbq6C5gxRPwH_9kDUpE_PMkI130_assertion SIO_000772 19559398 NP512545.RAI7KHcEuqaWaG41B4bUDAbq6C5gxRPwH_9kDUpE_PMkI130_provenance.
- NP512545.RAI7KHcEuqaWaG41B4bUDAbq6C5gxRPwH_9kDUpE_PMkI130_assertion wasDerivedFrom befree-20140225 NP512545.RAI7KHcEuqaWaG41B4bUDAbq6C5gxRPwH_9kDUpE_PMkI130_provenance.
- NP512545.RAI7KHcEuqaWaG41B4bUDAbq6C5gxRPwH_9kDUpE_PMkI130_assertion wasGeneratedBy ECO_0000203 NP512545.RAI7KHcEuqaWaG41B4bUDAbq6C5gxRPwH_9kDUpE_PMkI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP512545.RAI7KHcEuqaWaG41B4bUDAbq6C5gxRPwH_9kDUpE_PMkI130_provenance.