Gene: PRPF31 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26121
Gene Symbol: PRPF31
PRPF31 		0.110 GeneticVariation group CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967 2016
Entrez Id: 26121
Gene Symbol: PRPF31
PRPF31 		0.110 GeneticVariation group BEFREE This study allowed the identification of the genetic cause of the retinal dystrophy and the establishment of a correct diagnosis in four families, including a large heterozygous deletion in PRPF31, typically considered one of the pitfalls of this method. 26197217 2015