RPGRIP1L Gene

HGNC Family	C2 domain containing, Protein phosphatase 1 regulatory subunits (PPP1R)
Name	RPGRIP1-like
Description	The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nRPGRIP1L encodes a ciliary basal body and transition zone protein that functions as a molecular scaffold to organize multiple protein complexes essential for cilium assembly and maintenance. In particular, RPGRIP1L interacts with key ciliary proteins such as nephrocystin‐4 and RPGR, and it recruits signaling molecules like NEK4 to regulate ciliary gating and stability, thereby ensuring proper ciliogenesis. This central role in organizing the ciliary compartment has been demonstrated by its localization to basal bodies and the transition zone, as well as by its participation in distinct protein complexes whose integrity is critical for cilia function."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "8"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMutations in RPGRIP1L have been causatively linked to a spectrum of ciliopathies—including Joubert syndrome type B and Meckel-Gruber syndrome—and can modify the severity of related phenotypes such as retinal degeneration. Missense and truncating mutations in RPGRIP1L disrupt its normal protein–protein interactions, thereby impairing ciliary function and contributing to the multiorgan defects characteristic of these disorders. In some cases, compound heterozygosity involving RPGRIP1L in combination with mutations in other ciliary genes further exacerbates the clinical features, underscoring its pivotal position in ciliary signaling networks."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "9", "end_ref": "12"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its canonical role in the ciliary compartment, emerging evidence suggests that RPGRIP1L may also influence additional cellular processes. Alterations in its activity have been associated with dysfunctional cell cycle regulation and aberrant mitotic checkpoint control, as indicated by effects on proteins like Mad2. Moreover, RPGRIP1L appears to contribute to the maintenance of epidermal cell–cell junctions through regulation of desmosomal protein endocytosis and has been implicated in genetic association studies of metabolic and neurovascular traits. These non‐ciliary associations point to broader roles for RPGRIP1L in cellular homeostasis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "13", "end_ref": "18"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Heleen H Arts, Dan Doherty, Sylvia E C van Beersum, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng2069"}], "href": "https://doi.org/10.1038/ng2069"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17558407"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17558407"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Marion Delous, Lekbir Baala, Rémi Salomon, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng2039"}], "href": "https://doi.org/10.1038/ng2039"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17558409"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17558409"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "George Stratigopoulos, Stephanie L Padilla, Charles A LeDuc, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Regulation of Fto/Ftm gene expression in mice and humans."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Physiol Regul Integr Comp Physiol (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1152/ajpregu.00839.2007"}], "href": "https://doi.org/10.1152/ajpregu.00839.2007"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18256137"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18256137"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Karlien L M Coene, Dorus A Mans, Karsten Boldt, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddr280"}], "href": "https://doi.org/10.1093/hmg/ddr280"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21685204"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21685204"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "L H P Assis, R M P Silva-Junior, L G Dolce, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The molecular motor Myosin Va interacts with the cilia-centrosomal protein RPGRIP1L."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/srep43692"}], "href": "https://doi.org/10.1038/srep43692"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28266547"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28266547"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Antonia Wiegering, Renate Dildrop, Lisa Kalfhues, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cell type-specific regulation of ciliary transition zone assembly in vertebrates."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO J (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.15252/embj.201797791"}], "href": "https://doi.org/10.15252/embj.201797791"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29650680"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29650680"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Antonia Wiegering, Renate Dildrop, Christine Vesque, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Rpgrip1l controls ciliary gating by ensuring the proper amount of Cep290 at the vertebrate transition zone."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Cell (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1091/mbc.E20-03-0190"}], "href": "https://doi.org/10.1091/mbc.E20-03-0190"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33625872"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33625872"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Christine Vössing, Paul Atigbire, Jannis Eilers, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Mol Sci (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/ijms22073583"}], "href": "https://doi.org/10.3390/ijms22073583"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33808286"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33808286"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "F Brancati, L Travaglini, D Zablocka, et al. "}, {"type": "b", "children": [{"type": "t", "text": "RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1399-0004.2008.01047.x"}], "href": "https://doi.org/10.1111/j.1399-0004.2008.01047.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18565097"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18565097"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Hemant Khanna, Erica E Davis, Carlos A Murga-Zamalloa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.366"}], "href": "https://doi.org/10.1038/ng.366"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19430481"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19430481"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "T Suzuki, N Miyake, Y Tsurusaki, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Molecular genetic analysis of 30 families with Joubert syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/cge.12836"}], "href": "https://doi.org/10.1111/cge.12836"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27434533"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27434533"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Ping Zhang, Bingbing Wu, Yaqiong Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of Pathogenic Variants in RPGRIP1L with Meckel Syndrome and Preimplantation Genetic Testing in a Chinese Family."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Reprod Sci (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s43032-022-00898-y"}], "href": "https://doi.org/10.1007/s43032-022-00898-y"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35233738"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35233738"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Hui-Qi Qu, Struan F A Grant, Jonathan P Bradfield, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Association of fat mass and obesity-associated and retinitis pigmentosa guanosine triphosphatase (GTPase) regulator-interacting protein-1 like polymorphisms with body mass index in Chinese women."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Endocr J (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1507/endocrj.EJ17-0554"}], "href": "https://doi.org/10.1507/endocrj.EJ17-0554"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29657248"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29657248"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Niloufar Javanrouh, Ali R Soltanian, Leili Tapak, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "RPGRIP1L is required for stabilizing epidermal keratinocyte adhesion through regulating desmoglein endocytosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1007914"}], "href": "https://doi.org/10.1371/journal.pgen.1007914"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30689641"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30689641"}]}]}]}
Synonyms	CORS3, JBTS7, NPHP8, PPP1R134, FTM, MKS5
Proteins	FTM_HUMAN
NCBI Gene ID	23322
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

RPGRIP1L has 6,351 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 112 datasets.

Click the + buttons to view associations for RPGRIP1L from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

RPGRIP1L Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of RPGRIP1L gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of RPGRIP1L gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of RPGRIP1L gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of RPGRIP1L gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of RPGRIP1L gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of RPGRIP1L gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of RPGRIP1L gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of RPGRIP1L gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with RPGRIP1L gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of RPGRIP1L gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of RPGRIP1L gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of RPGRIP1L gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with RPGRIP1L gene from the curated ClinVar Gene-Phenotype Associations dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of RPGRIP1L gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing RPGRIP1L protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing RPGRIP1L protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing RPGRIP1L protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with RPGRIP1L protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with RPGRIP1L protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of RPGRIP1L gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with RPGRIP1L gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with RPGRIP1L gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with RPGRIP1L gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of RPGRIP1L protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by RPGRIP1L gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving RPGRIP1L gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with RPGRIP1L gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with RPGRIP1L gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with RPGRIP1L gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with RPGRIP1L gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with RPGRIP1L gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at RPGRIP1L gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of RPGRIP1L gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of RPGRIP1L gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing RPGRIP1L from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with RPGRIP1L gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with RPGRIP1L gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing RPGRIP1L from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of RPGRIP1L gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
	GEO Signatures of Differentially Expressed Genes for Gene Perturbations	gene perturbations changing expression of RPGRIP1L gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.