Gene table of RPGRIP1 : retinitis pigmentosa GTPase regulator interacting protein 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with RPGRIP1OMIM linkNumber of associated genesgenes
608194CONE-ROD DYSTROPHY 13ClinVar, OMIM, HUMSAVAR link to OMIM 1RPGRIP1
PS204000LEBER CONGENITAL AMAUROSISClinVar, OMIM, HUMSAVAR link to OMIM 19TULP1, PRPH2, LRAT, SPATA7, CEP290, RDH12, RPE65, CRX, GDF6, GUCY2D, ROM1, IMPDH1, KCNJ13, RD3, NMNAT1, LCA5, RPGRIP1, CRB1, AIPL1

Download the gene annotation in CSV format

Annotation of the gene RPGRIP1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
bindingGO:00054880.18
protein bindingGO:00055150.46