Gene: EFEMP1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2202
Gene Symbol: EFEMP1
EFEMP1 		0.020 GeneticVariation disease BEFREE The mutation R345W in EFEMP1 (fibulin-3) causes macular degeneration. 28622396 2017
Entrez Id: 2202
Gene Symbol: EFEMP1
EFEMP1 		0.020 GeneticVariation disease BEFREE In a seventh case with multiple disparate clinical features, the authors were able to identify homozygous mutations in EFEMP1 as a likely cause for macular degeneration (though likely not for other features). 22581936 2012