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- source_evidence_literature type ECO_0000212 NP1156961.RA-Dx1klJir_UOxmQNqZSzMYZ3TsQ3XBsqx9A1ejyu260130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1156961.RA-Dx1klJir_UOxmQNqZSzMYZ3TsQ3XBsqx9A1ejyu260130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1156961.RA-Dx1klJir_UOxmQNqZSzMYZ3TsQ3XBsqx9A1ejyu260130_provenance.
- NP1156961.RA-Dx1klJir_UOxmQNqZSzMYZ3TsQ3XBsqx9A1ejyu260130_assertion description "[Within this group mutations in the protein O-mannosyltransferase genes (POMT1 and POMT2) are known to cause a spectrum of CMD disorders including the Walker-Warburg Syndrome with severe brain and ocular malformations, and the limb girdle muscular dystrophy with and without mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1156961.RA-Dx1klJir_UOxmQNqZSzMYZ3TsQ3XBsqx9A1ejyu260130_provenance.
- NP1156961.RA-Dx1klJir_UOxmQNqZSzMYZ3TsQ3XBsqx9A1ejyu260130_assertion evidence source_evidence_literature NP1156961.RA-Dx1klJir_UOxmQNqZSzMYZ3TsQ3XBsqx9A1ejyu260130_provenance.
- NP1156961.RA-Dx1klJir_UOxmQNqZSzMYZ3TsQ3XBsqx9A1ejyu260130_assertion SIO_000772 24556424 NP1156961.RA-Dx1klJir_UOxmQNqZSzMYZ3TsQ3XBsqx9A1ejyu260130_provenance.
- NP1156961.RA-Dx1klJir_UOxmQNqZSzMYZ3TsQ3XBsqx9A1ejyu260130_assertion wasDerivedFrom befree-2016 NP1156961.RA-Dx1klJir_UOxmQNqZSzMYZ3TsQ3XBsqx9A1ejyu260130_provenance.
- NP1156961.RA-Dx1klJir_UOxmQNqZSzMYZ3TsQ3XBsqx9A1ejyu260130_assertion wasGeneratedBy ECO_0000203 NP1156961.RA-Dx1klJir_UOxmQNqZSzMYZ3TsQ3XBsqx9A1ejyu260130_provenance.
- befree-2016 importedOn "2016-02-19" NP1156961.RA-Dx1klJir_UOxmQNqZSzMYZ3TsQ3XBsqx9A1ejyu260130_provenance.