Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 134359
Gene Symbol: POC5
POC5
0.010 GeneticVariation disease BEFREE Exome sequencing revealed a homozygous nonsense mutation [c.304_305delGA (p. D102*)] in POC5, encoding the Proteome Of Centriole 5 protein, in a patient with RP, short stature, microcephaly and recurrent glomerulonephritis. 29272404 2018