RP9, RP9 pre-mRNA splicing factor, 6100

N. diseases: 54; N. variants: 2
Disease: RETINITIS PIGMENTOSA 9 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1867300
Disease: RETINITIS PIGMENTOSA 9
RETINITIS PIGMENTOSA 9 		0.720 GeneticVariation disease BEFREE One IHR gene, Pim1, is the immediate binding partner for PAP1 (RP9). 18334927 2008
CUI: C1867300
Disease: RETINITIS PIGMENTOSA 9
RETINITIS PIGMENTOSA 9 		0.720 GeneticVariation disease BEFREE We used the same splicing assay to examine the activities of two mutant forms of PAP-1 found in RP9 patients. 15474994 2004
CUI: C1867300
Disease: RETINITIS PIGMENTOSA 9
RETINITIS PIGMENTOSA 9 		0.720 GeneticVariation disease UNIPROT Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. 12032732 2002
CUI: C1867300
Disease: RETINITIS PIGMENTOSA 9
RETINITIS PIGMENTOSA 9 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C1867300
Disease: RETINITIS PIGMENTOSA 9
RETINITIS PIGMENTOSA 9 		0.720 CausalMutation disease CLINVAR
CUI: C1867300
Disease: RETINITIS PIGMENTOSA 9
RETINITIS PIGMENTOSA 9 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C1867300
Disease: RETINITIS PIGMENTOSA 9
RETINITIS PIGMENTOSA 9 		0.720 Biomarker disease CTD_human