PRPF31, pre-mRNA processing factor 31, 26121

N. diseases: 150; N. variants: 23
Disease: Autosomal dominant retinitis pigmentosa ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119475042
rs119475042
Entrez Id: 26121
Gene Symbol: PRPF31
PRPF31
CUI: C0339525
Disease:
Autosomal dominant retinitis pigmentosa 		0.010 GeneticVariation BEFREE This study investigates the functional consequences of two mutations, A194E and A216P, in the splicing factor gene PRPF31 linked to autosomal dominant retinitis pigmentosa (RP11). 12444105 2002
dbSNP: rs119475043
rs119475043
Entrez Id: 26121
Gene Symbol: PRPF31
PRPF31
CUI: C0339525
Disease:
Autosomal dominant retinitis pigmentosa 		0.010 GeneticVariation BEFREE This study investigates the functional consequences of two mutations, A194E and A216P, in the splicing factor gene PRPF31 linked to autosomal dominant retinitis pigmentosa (RP11). 12444105 2002