PKHD1 Gene

Name	polycystic kidney and hepatic disease 1 (autosomal recessive)
Description	The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nPKHD1 is the key gene mutated in autosomal recessive polycystic kidney disease (ARPKD) and encodes a large, receptor‐like protein known as fibrocystin (or polyductin). This protein is generated from a complex transcript produced by alternatively spliced exons that span several hundred kilobases. Fibrocystin contains a long extracellular region with repeated modules related to TIG domains and plexins, a single transmembrane segment located near its carboxyl terminus, and an intracellular tail that may serve as a signaling hub. Its expression is highest in epithelial tissues involved in ductal morphogenesis—particularly in the kidney’s collecting ducts, liver biliary tracts, and pancreas—supporting a role in epithelial differentiation and tubule development."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nLocalization studies have shown that fibrocystin is concentrated at the primary cilium, basal bodies, and the apical domain of epithelial cells. Within these specialized compartments it participates in mechanosensory signaling and cell–cell communication. Fibrocystin undergoes complex proteolytic processing—exhibiting Notch‐like cleavage that releases its extracellular domain—which is thought to be essential for bidirectional signal transduction between the cell surface and the nucleus. Its interactions with other cystoproteins such as polycystin‐2 and signaling mediators like CAML further implicate fibrocystin in modulating calcium‐dependent and integrin‐associated pathways critical to maintaining ductal architecture and appropriate cellular adhesion."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "8"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nFunctional investigations using mutation analyses and cellular models have demonstrated that loss or alteration of fibrocystin disrupts several key processes—including cell proliferation, apoptosis, and focal adhesion dynamics—which in turn leads to abnormal tubule morphogenesis and cyst formation. Aberrant activation of signaling pathways such as ERK1/2 and PI3K/Akt, along with disordered integrin-mediated adhesion, reflect the critical role of fibrocystin in maintaining renal and biliary duct integrity. Moreover, specific genotype–phenotype correlations and differential splicing events within PKHD1 contribute to the wide clinical variability observed in ARPKD patients, underscoring the importance of fibrocystin in coordinating epithelial differentiation and mechanotransduction."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "9", "end_ref": "21"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Christopher J Ward, Marie C Hogan, Sandro Rossetti, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng833"}], "href": "https://doi.org/10.1038/ng833"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11919560"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11919560"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Luiz F Onuchic, Laszlo Furu, Yasuyuki Nagasawa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/340448"}], "href": "https://doi.org/10.1086/340448"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11898128"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11898128"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Luís F C Menezes, Yiqiang Cai, Yasuyuki Nagasawa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Kidney Int (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1523-1755.2004.00844.x"}], "href": "https://doi.org/10.1111/j.1523-1755.2004.00844.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15458427"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15458427"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Huaqi Xiong, Yongxiong Chen, Yajun Yi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genomics (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1006/geno.2002.6802"}], "href": "https://doi.org/10.1006/geno.2002.6802"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12079288"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12079288"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Marie C Hogan, Luca Manganelli, John R Woollard, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Characterization of PKD protein-positive exosome-like vesicles."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Am Soc Nephrol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1681/ASN.2008060564"}], "href": "https://doi.org/10.1681/ASN.2008060564"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19158352"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19158352"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Shixuan Wang, Jingjing Zhang, Surya M Nauli, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Fibrocystin/polyductin, found in the same protein complex with polycystin-2, regulates calcium responses in kidney epithelia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/MCB.00072-07"}], "href": "https://doi.org/10.1128/MCB.00072-07"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17283055"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17283055"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Jun-ya Kaimori, Yasuyuki Nagasawa, Luis F Menezes, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Polyductin undergoes notch-like processing and regulated release from primary cilia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddm039"}], "href": "https://doi.org/10.1093/hmg/ddm039"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17470460"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17470460"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Junko Nagano, Kenichiro Kitamura, Kristine M Hujer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Fibrocystin interacts with CAML, a protein involved in Ca2+ signaling."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2005.10.022"}], "href": "https://doi.org/10.1016/j.bbrc.2005.10.022"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16243292"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16243292"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Carsten Bergmann, Jan Senderek, Beate Sedlacek, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Am Soc Nephrol (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/01.asn.0000039578.55705.6e"}], "href": "https://doi.org/10.1097/01.asn.0000039578.55705.6e"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12506140"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12506140"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Ming-Zhi Zhang, Weiyi Mai, Cunxi Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.0400073101"}], "href": "https://doi.org/10.1073/pnas.0400073101"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14983006"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14983006"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Kathrin Burgmaier, Leonie Brinker, Florian Erger, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Kidney Int (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.kint.2021.04.019"}], "href": "https://doi.org/10.1016/j.kint.2021.04.019"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33940108"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33940108"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Ming Ma "}, {"type": "b", "children": [{"type": "t", "text": "Cilia and polycystic kidney disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Semin Cell Dev Biol (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.semcdb.2020.05.003"}], "href": "https://doi.org/10.1016/j.semcdb.2020.05.003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32475690"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32475690"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Sharon Israeli, Kurt Amsler, Nadezhda Zheleznova, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Abnormalities in focal adhesion complex formation, regulation, and function in human autosomal recessive polycystic kidney disease epithelial cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Physiol Cell Physiol (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1152/ajpcell.00032.2009"}], "href": "https://doi.org/10.1152/ajpcell.00032.2009"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19923420"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19923420"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Jiyun Yang, Sizhong Zhang, Qin Zhou, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PKHD1 gene silencing may cause cell abnormal proliferation through modulation of intracellular calcium in autosomal recessive polycystic kidney disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biochem Mol Biol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.5483/bmbrep.2007.40.4.467"}], "href": "https://doi.org/10.5483/bmbrep.2007.40.4.467"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17669261"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17669261"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Alessandra Mangolini, Marco Bogo, Chiara Durante, et al. "}, {"type": "b", "children": [{"type": "t", "text": "NF-kappaB activation is required for apoptosis in fibrocystin/polyductin-depleted kidney epithelial cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Apoptosis (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10495-009-0426-7"}], "href": "https://doi.org/10.1007/s10495-009-0426-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19943112"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19943112"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Taylor Richards, Kavindiya Modarage, Charlotte Dean, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Atmin modulates Pkhd1 expression and may mediate Autosomal Recessive Polycystic Kidney Disease (ARPKD) through altered non-canonical Wnt/Planar Cell Polarity (PCP) signalling."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochim Biophys Acta Mol Basis Dis (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbadis.2018.11.003"}], "href": "https://doi.org/10.1016/j.bbadis.2018.11.003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30414501"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30414501"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Wendy A Lea, Kerri McGreal, Madhulika Sharma, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Down-regulation of PKHD1 induces cell apoptosis through PI3K and NF-κB pathways."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Exp Cell Res (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.yexcr.2011.01.025"}], "href": "https://doi.org/10.1016/j.yexcr.2011.01.025"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21300060"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21300060"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "L F Menezes, L F Onuchic "}, {"type": "b", "children": [{"type": "t", "text": "Molecular and cellular pathogenesis of autosomal recessive polycystic kidney disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Braz J Med Biol Res (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1590/s0100-879x2006001200004"}], "href": "https://doi.org/10.1590/s0100-879x2006001200004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17160262"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17160262"}]}]}]}
Synonyms	ARPKD, FPC, FCYT, TIGM1
Proteins	PKHD1_HUMAN
NCBI Gene ID	5314
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

PKHD1 has 5,226 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 110 datasets.

Click the + buttons to view associations for PKHD1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

PKHD1 Gene

Functional Associations

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

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by PKHD1 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of PKHD1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of PKHD1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of PKHD1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PKHD1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PKHD1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of PKHD1 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 PKHD1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with PKHD1 gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with PKHD1 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 PKHD1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of PKHD1 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 PKHD1 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 PKHD1 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with PKHD1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of PKHD1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing PKHD1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing PKHD1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with PKHD1 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 PKHD1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing PKHD1 protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of PKHD1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with PKHD1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with PKHD1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with PKHD1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of PKHD1 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 PKHD1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving PKHD1 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving PKHD1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with PKHD1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with PKHD1 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 PKHD1 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 PKHD1 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 PKHD1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with PKHD1 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 PKHD1 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 PKHD1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of PKHD1 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 PKHD1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with PKHD1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.