RP9, RP9 pre-mRNA splicing factor, 6100

N. diseases: 54; N. variants: 2
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
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.320 GeneticVariation disease BEFREE Here, we utilize the CRISPR/Cas9 system to generate both the Rp9 gene knockout (KO) and point mutation knock in (KI) (Rp9, c.A386T, P.H129L) which is analogous to the reported one in the retinitis pigmentosa patients (RP9, c.A410T, P.H137L) in 661 W retinal photoreceptor cells in vitro. 28216641 2017
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.320 GeneticVariation disease LHGDN Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. 12032732 2002
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.320 Biomarker disease GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.300 Biomarker group GENOMICS_ENGLAND
Diabetes Mellitus, Non-Insulin-Dependent
0.120 AlteredExpression disease BEFREE However, reduced LPIN1 and PAP1 activity has been described in participants with type 2 diabetes. 27344312 2016
Diabetes Mellitus, Non-Insulin-Dependent
0.120 AlteredExpression disease BEFREE Here, we studied cardiac PAP(1) activity and lipin expression ex vivo in 8-month-old Zucker diabetic fatty (ZDF) rats and humans with type 2 diabetes mellitus undergoing open heart surgery for coronary bypass grafting. 19799857 2009
Diabetes Mellitus, Non-Insulin-Dependent
0.120 Biomarker disease HPO
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 Biomarker disease HPO
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss
0.100 Biomarker disease HPO
Sensorineural Hearing Loss (disorder)
0.100 Biomarker disease HPO
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 Biomarker disease HPO
CUI: C0020619
Disease: Hypogonadism
Hypogonadism
0.100 Biomarker disease HPO
CUI: C0022578
Disease: Keratoconus
Keratoconus
0.100 Biomarker disease HPO
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 Biomarker disease HPO
CUI: C0028754
Disease: Obesity
Obesity
0.100 Biomarker disease HPO