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- source_evidence_literature type ECO_0000212 NP95867.RAOz5aNc8_Y_PDA4b89x-5g92iBK_PS4vnHkJxeGGi8E8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP95867.RAOz5aNc8_Y_PDA4b89x-5g92iBK_PS4vnHkJxeGGi8E8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP95867.RAOz5aNc8_Y_PDA4b89x-5g92iBK_PS4vnHkJxeGGi8E8130_provenance.
- NP95867.RAOz5aNc8_Y_PDA4b89x-5g92iBK_PS4vnHkJxeGGi8E8130_assertion description "[So far, disease-associated mutations have been identified in seven genes: two genes for autosomal dominant (SPTLC1 and RAB7) and five genes for autosomal recessive forms of HSAN (WNK1/HSN2, NTRK1, NGFB, CCT5 and IKBKAP).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP95867.RAOz5aNc8_Y_PDA4b89x-5g92iBK_PS4vnHkJxeGGi8E8130_provenance.
- NP95867.RAOz5aNc8_Y_PDA4b89x-5g92iBK_PS4vnHkJxeGGi8E8130_assertion evidence source_evidence_literature NP95867.RAOz5aNc8_Y_PDA4b89x-5g92iBK_PS4vnHkJxeGGi8E8130_provenance.
- NP95867.RAOz5aNc8_Y_PDA4b89x-5g92iBK_PS4vnHkJxeGGi8E8130_assertion SIO_000772 19651702 NP95867.RAOz5aNc8_Y_PDA4b89x-5g92iBK_PS4vnHkJxeGGi8E8130_provenance.
- NP95867.RAOz5aNc8_Y_PDA4b89x-5g92iBK_PS4vnHkJxeGGi8E8130_assertion wasDerivedFrom gad-20150221 NP95867.RAOz5aNc8_Y_PDA4b89x-5g92iBK_PS4vnHkJxeGGi8E8130_provenance.
- NP95867.RAOz5aNc8_Y_PDA4b89x-5g92iBK_PS4vnHkJxeGGi8E8130_assertion wasGeneratedBy ECO_0000203 NP95867.RAOz5aNc8_Y_PDA4b89x-5g92iBK_PS4vnHkJxeGGi8E8130_provenance.
- gad-20150221 importedOn "2015-02-21" NP95867.RAOz5aNc8_Y_PDA4b89x-5g92iBK_PS4vnHkJxeGGi8E8130_provenance.