POC5, POC5 centriolar protein, 134359

N. diseases: 16; N. variants: 9
Disease: Glomerulonephritis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017658
Disease: Glomerulonephritis
Glomerulonephritis 		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