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- source_evidence_literature type ECO_0000212 NP827808.RA1zg1bNb9v__ai5wL8J5jWHZgD7q1b1Ej4Vb-j5KhYTs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP827808.RA1zg1bNb9v__ai5wL8J5jWHZgD7q1b1Ej4Vb-j5KhYTs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP827808.RA1zg1bNb9v__ai5wL8J5jWHZgD7q1b1Ej4Vb-j5KhYTs130_provenance.
- NP827808.RA1zg1bNb9v__ai5wL8J5jWHZgD7q1b1Ej4Vb-j5KhYTs130_assertion description "[Hyperphosphatasia with mental retardation syndrome (HPMRS), an autosomal-recessive form of intellectual disability characterized by facial dysmorphism, seizures, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia), was recently shown to be caused by mutations in PIGV, a member of the glycosylphosphatidylinositol (GPI)-anchor-synthesis pathway.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP827808.RA1zg1bNb9v__ai5wL8J5jWHZgD7q1b1Ej4Vb-j5KhYTs130_provenance.
- NP827808.RA1zg1bNb9v__ai5wL8J5jWHZgD7q1b1Ej4Vb-j5KhYTs130_assertion evidence source_evidence_literature NP827808.RA1zg1bNb9v__ai5wL8J5jWHZgD7q1b1Ej4Vb-j5KhYTs130_provenance.
- NP827808.RA1zg1bNb9v__ai5wL8J5jWHZgD7q1b1Ej4Vb-j5KhYTs130_assertion SIO_000772 22683086 NP827808.RA1zg1bNb9v__ai5wL8J5jWHZgD7q1b1Ej4Vb-j5KhYTs130_provenance.
- NP827808.RA1zg1bNb9v__ai5wL8J5jWHZgD7q1b1Ej4Vb-j5KhYTs130_assertion wasDerivedFrom befree-20140225 NP827808.RA1zg1bNb9v__ai5wL8J5jWHZgD7q1b1Ej4Vb-j5KhYTs130_provenance.
- NP827808.RA1zg1bNb9v__ai5wL8J5jWHZgD7q1b1Ej4Vb-j5KhYTs130_assertion wasGeneratedBy ECO_0000203 NP827808.RA1zg1bNb9v__ai5wL8J5jWHZgD7q1b1Ej4Vb-j5KhYTs130_provenance.
- befree-20140225 importedOn "2014-02-25" NP827808.RA1zg1bNb9v__ai5wL8J5jWHZgD7q1b1Ej4Vb-j5KhYTs130_provenance.