Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
0.300 Biomarker GENOMICS_ENGLAND PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. 24355708

2014