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- source_evidence_literature type ECO_0000212 NP735231.RA76A-G2YMCy7J9qKij6ydl4QOyM8Sy0p0oy5fAl2f0MY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP735231.RA76A-G2YMCy7J9qKij6ydl4QOyM8Sy0p0oy5fAl2f0MY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP735231.RA76A-G2YMCy7J9qKij6ydl4QOyM8Sy0p0oy5fAl2f0MY130_provenance.
- NP735231.RA76A-G2YMCy7J9qKij6ydl4QOyM8Sy0p0oy5fAl2f0MY130_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." NP735231.RA76A-G2YMCy7J9qKij6ydl4QOyM8Sy0p0oy5fAl2f0MY130_provenance.
- NP735231.RA76A-G2YMCy7J9qKij6ydl4QOyM8Sy0p0oy5fAl2f0MY130_assertion evidence source_evidence_literature NP735231.RA76A-G2YMCy7J9qKij6ydl4QOyM8Sy0p0oy5fAl2f0MY130_provenance.
- NP735231.RA76A-G2YMCy7J9qKij6ydl4QOyM8Sy0p0oy5fAl2f0MY130_assertion SIO_000772 19400538 NP735231.RA76A-G2YMCy7J9qKij6ydl4QOyM8Sy0p0oy5fAl2f0MY130_provenance.
- NP735231.RA76A-G2YMCy7J9qKij6ydl4QOyM8Sy0p0oy5fAl2f0MY130_assertion wasDerivedFrom befree-2016 NP735231.RA76A-G2YMCy7J9qKij6ydl4QOyM8Sy0p0oy5fAl2f0MY130_provenance.
- NP735231.RA76A-G2YMCy7J9qKij6ydl4QOyM8Sy0p0oy5fAl2f0MY130_assertion wasGeneratedBy ECO_0000203 NP735231.RA76A-G2YMCy7J9qKij6ydl4QOyM8Sy0p0oy5fAl2f0MY130_provenance.
- befree-2016 importedOn "2016-02-19" NP735231.RA76A-G2YMCy7J9qKij6ydl4QOyM8Sy0p0oy5fAl2f0MY130_provenance.