PRPF6, pre-mRNA processing factor 6, 24148

N. diseases: 76; N. variants: 3
Disease: RETINITIS PIGMENTOSA 60 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151434
Disease: RETINITIS PIGMENTOSA 60
RETINITIS PIGMENTOSA 60 		0.700 GeneticVariation disease UNIPROT A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa. 21549338 2011
CUI: C3151434
Disease: RETINITIS PIGMENTOSA 60
RETINITIS PIGMENTOSA 60 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3151434
Disease: RETINITIS PIGMENTOSA 60
RETINITIS PIGMENTOSA 60 		0.700 CausalMutation disease CLINVAR
CUI: C3151434
Disease: RETINITIS PIGMENTOSA 60
RETINITIS PIGMENTOSA 60 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3151434
Disease: RETINITIS PIGMENTOSA 60
RETINITIS PIGMENTOSA 60 		0.700 Biomarker disease CTD_human