Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
CUI: C0023138
Disease: Laurence-Moon Syndrome
Laurence-Moon Syndrome 		0.700 GeneticVariation UNIPROT Eight mutations in six families with Oliver-McFarlane or Laurence-Moon syndrome were identified in the PNPLA6 gene, which encodes neuropathy target esterase (NTE). 25480986

2015