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- source_evidence_literature type ECO_0000212 NP817712.RAo5PyJ-q0EtW2-gXB8AWm1vLbPn7rahNbt7sAohVL2F8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP817712.RAo5PyJ-q0EtW2-gXB8AWm1vLbPn7rahNbt7sAohVL2F8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP817712.RAo5PyJ-q0EtW2-gXB8AWm1vLbPn7rahNbt7sAohVL2F8130_provenance.
- NP817712.RAo5PyJ-q0EtW2-gXB8AWm1vLbPn7rahNbt7sAohVL2F8130_assertion description "[The 14 additional phenotypes (84 patients: 46%) included PNH with Ehlers-Danlos syndrome (EDS), temporo-occipital PNH with hippocampal malformation and cerebellar hypoplasia, PNH with fronto-perisylvian or temporo-occipital polymicrogyria, posterior PNH with hydrocephalus, PNH with microcephaly, PNH with frontonasal dysplasia, PNH with limb abnormalities, PNH with fragile-X syndrome, PNH with ambiguous genitalia, micronodular PH, unilateral PNH, laminar ribbon-like and linear PH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP817712.RAo5PyJ-q0EtW2-gXB8AWm1vLbPn7rahNbt7sAohVL2F8130_provenance.
- NP817712.RAo5PyJ-q0EtW2-gXB8AWm1vLbPn7rahNbt7sAohVL2F8130_assertion evidence source_evidence_literature NP817712.RAo5PyJ-q0EtW2-gXB8AWm1vLbPn7rahNbt7sAohVL2F8130_provenance.
- NP817712.RAo5PyJ-q0EtW2-gXB8AWm1vLbPn7rahNbt7sAohVL2F8130_assertion SIO_000772 16684786 NP817712.RAo5PyJ-q0EtW2-gXB8AWm1vLbPn7rahNbt7sAohVL2F8130_provenance.
- NP817712.RAo5PyJ-q0EtW2-gXB8AWm1vLbPn7rahNbt7sAohVL2F8130_assertion wasDerivedFrom befree-20140225 NP817712.RAo5PyJ-q0EtW2-gXB8AWm1vLbPn7rahNbt7sAohVL2F8130_provenance.
- NP817712.RAo5PyJ-q0EtW2-gXB8AWm1vLbPn7rahNbt7sAohVL2F8130_assertion wasGeneratedBy ECO_0000203 NP817712.RAo5PyJ-q0EtW2-gXB8AWm1vLbPn7rahNbt7sAohVL2F8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP817712.RAo5PyJ-q0EtW2-gXB8AWm1vLbPn7rahNbt7sAohVL2F8130_provenance.