PRPF31, pre-mRNA processing factor 31, 26121

N. diseases: 150; N. variants: 23
Disease: Blindness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0456909
Disease: Blindness
Blindness 		0.120 GeneticVariation phenotype BEFREE Heterozygous mutations in the PRPF31 gene cause autosomal dominant retinitis pigmentosa (adRP), a hereditary disorder leading to progressive blindness. 23144630 2012
CUI: C0456909
Disease: Blindness
Blindness 		0.120 GeneticVariation phenotype BEFREE Mutations in PRPF31 have been implicated in autosomal dominant retinitis pigmentosa (adRP), a frequent and important cause of blindness worldwide. 22723017 2012
CUI: C0456909
Disease: Blindness
Blindness 		0.120 Biomarker phenotype HPO