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- source_evidence_literature type ECO_0000212 NP693856.RAf1ybDO2HES-Oc372IauuDE7CJkx9r4_pGy37imtSGUc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP693856.RAf1ybDO2HES-Oc372IauuDE7CJkx9r4_pGy37imtSGUc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP693856.RAf1ybDO2HES-Oc372IauuDE7CJkx9r4_pGy37imtSGUc130_provenance.
- NP693856.RAf1ybDO2HES-Oc372IauuDE7CJkx9r4_pGy37imtSGUc130_assertion description "[Heterozygote deletions or mutations of pseudoautosomal 1 region (PAR1) encompassing the short stature homeobox-containing (SHOX) gene cause Leri-Weill Dyschondrosteosis (LWD), which is a dominantly inherited osteochondroplasia characterized by short stature with mesomelic shortening of the upper and lower limbs and Madelung deformity of the wrists.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP693856.RAf1ybDO2HES-Oc372IauuDE7CJkx9r4_pGy37imtSGUc130_provenance.
- NP693856.RAf1ybDO2HES-Oc372IauuDE7CJkx9r4_pGy37imtSGUc130_assertion evidence source_evidence_literature NP693856.RAf1ybDO2HES-Oc372IauuDE7CJkx9r4_pGy37imtSGUc130_provenance.
- NP693856.RAf1ybDO2HES-Oc372IauuDE7CJkx9r4_pGy37imtSGUc130_assertion SIO_000772 19400538 NP693856.RAf1ybDO2HES-Oc372IauuDE7CJkx9r4_pGy37imtSGUc130_provenance.
- NP693856.RAf1ybDO2HES-Oc372IauuDE7CJkx9r4_pGy37imtSGUc130_assertion wasDerivedFrom befree-20150227 NP693856.RAf1ybDO2HES-Oc372IauuDE7CJkx9r4_pGy37imtSGUc130_provenance.
- NP693856.RAf1ybDO2HES-Oc372IauuDE7CJkx9r4_pGy37imtSGUc130_assertion wasGeneratedBy ECO_0000203 NP693856.RAf1ybDO2HES-Oc372IauuDE7CJkx9r4_pGy37imtSGUc130_provenance.
- befree-20150227 importedOn "2015-02-27" NP693856.RAf1ybDO2HES-Oc372IauuDE7CJkx9r4_pGy37imtSGUc130_provenance.