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9 Possible Causes for Mutation in the RP9 Gene

  • Retinitis Pigmentosa 9

    Additional Disease Information for RP9 No data available for Genatlas for RP9 Gene PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing[genecards.org] Title: PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor.[ncbi.nlm.nih.gov] Gene Human Gene Mutation Database (HGMD) RP9 SNPedia medical, phenotypic, and genealogical associations of SNPs for RP9 No data available for Polymorphic Variants from UniProtKB[genecards.org]

  • Retinopathy

    ) The disease is caused by mutations affecting the gene represented in this entry.[uniprot.org] […] by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS Keywords - Cellular component i Nucleus Pathology & Biotech i Involvement in disease i Retinitis pigmentosa 9 (RP9[uniprot.org]

  • Retinitis Pigmentosa 41

    […] in the RP9 gene on chromosome 7p14.[malacards.org] An important gene associated with Retinitis Pigmentosa 9 is RP9 (RP9, Pre-MRNA Splicing Factor).[malacards.org] Affiliated tissues include eye , bone and retina , and related phenotypes are cataract and nyctalopia Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation[malacards.org]

  • Retinitis Pigmentosa 7

    ) The disease is caused by mutations affecting the gene represented in this entry.[uniprot.org] […] by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS Keywords - Cellular component i Nucleus Pathology & Biotech i Involvement in disease i Retinitis pigmentosa 9 (RP9[uniprot.org]

  • Retinitis Pigmentosa Type 4

    ) The disease is caused by mutations affecting the gene represented in this entry.[uniprot.org] […] by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS Keywords - Cellular component i Nucleus Pathology & Biotech i Involvement in disease i Retinitis pigmentosa 9 (RP9[uniprot.org]

  • Retinitis pigmentosa 44

    ) The disease is caused by mutations affecting the gene represented in this entry.[uniprot.org] […] by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS Keywords - Cellular component i Nucleus Pathology & Biotech i Involvement in disease i Retinitis pigmentosa 9 (RP9[uniprot.org]

  • Retinitis Pigmentosa 32

    ) The disease is caused by mutations affecting the gene represented in this entry.[uniprot.org] […] by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS Keywords - Cellular component i Nucleus Pathology & Biotech i Involvement in disease i Retinitis pigmentosa 9 (RP9[uniprot.org]

  • Dowling-Degos Disease

    […] detection in 15 genes: CA4, FSCN2, IMPDH1, NRL, PPF3, PRPF31, PRPF8, RDS, RHO, ROM1, RP1, RP9, CRX , TOPORS and PNR adRP Tier 1 ADULT (Acro Dermato Ungual Lacrimal Tooth)[genetests.org] Sequence and Deletion/ Duplication Analyses) Adenomatous polyposis (Familiäre adenomatöse Polypose) Adrenal hyperplasia, congenital (Adrenogenitales Syndrom) adRP mutation[genetests.org] Adams-Oliver syndrome NGS panel Comprehensive Test Adams-Oliver Syndrome Panel Adams-Oliver Syndrome, Panel Massive Sequencing (NGS) 3 Genes Adenomatous Polyposis (APC and MUTYH Gene[genetests.org]

  • Bardet-Biedl Syndrome Type 9

    […] clinical significance of this was considered uncertain given the paucity of reported cases with unambiguous RP9 mutations.[nature.com] Long-read SMRT sequencing of the deletion breakpoints also determined that the aberration included the neighboring RP9 gene implicated in retinitis pigmentosa; however, the[nature.com]

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