PLA2G5, phospholipase A2 group V, 5322

N. diseases: 29; N. variants: 15
Disease: Fleck Retina, Familial Benign ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1856718
Disease: Fleck Retina, Familial Benign
Fleck Retina, Familial Benign 		0.700 GermlineCausalMutation disease ORPHANET Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina. 22137173 2011
CUI: C1856718
Disease: Fleck Retina, Familial Benign
Fleck Retina, Familial Benign 		0.700 GeneticVariation disease UNIPROT Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina. 22137173 2011
CUI: C1856718
Disease: Fleck Retina, Familial Benign
Fleck Retina, Familial Benign 		0.700 GeneticVariation disease CLINVAR
CUI: C1856718
Disease: Fleck Retina, Familial Benign
Fleck Retina, Familial Benign 		0.700 Biomarker disease CTD_human
CUI: C1856718
Disease: Fleck Retina, Familial Benign
Fleck Retina, Familial Benign 		0.700 Biomarker disease GENOMICS_ENGLAND