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PKD1 and polycystic kidney disease are reported together in 8 articles.
Gene
PKD1
- HGNC
- HGNC:9008
10articles
10mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Polycystic kidney disease
66articles
66mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
8 records shown · first 60Cilia-to-basement membrane signaling is a biomechanical driver in models of autosomal dominant polycystic kidney disease.
PMID 42378035 | PMCID PMC13574157 | DOI 10.1172/JCI196814 · The Journal of clinical investigation · 2026 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PKD1 | “Autosomal dominant polycystic kidney disease (ADPKD), the leading genetic cause of kidney failure, results from loss-of-function mutations in PKD1, encoding polycystin-1 (PC1).” | 0.98 | hgnc_dict_v1 |
| phenotype | polycystic kidney disease | “Cilia-to-basement membrane signaling is a biomechanical driver in models of autosomal dominant polycystic kidney disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | GLIS2 | “These changes were driven by a cilia-dependent transcriptional program, with GLIS2 - a key CDCA effector - participating as a downstream mediator.” | 0.98 | hgnc_dict_v1 |
| phenotype | renal failure | “Autosomal dominant polycystic kidney disease (ADPKD), the leading genetic cause of kidney failure, results from loss-of-function mutations in PKD1, encoding polycystin-1 (PC1).” | 0.93 | phenotype_alias_lexicon_v2 |
Discovery of putative inhibitors of human Pkd1 enzyme: Molecular docking, dynamics and simulation, QSAR, and MM/GBSA.
PMID 38838751 | DOI 10.1016/j.envres.2024.119336 · Environmental research · 2024 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PKD1 | “Polycystic kidney disease is the most prevalent hereditary kidney disease globally and is mainly linked to the overexpression of a gene called PKD1.” | 0.98 | hgnc_dict_v1 |
| phenotype | polycystic kidney disease | “Polycystic kidney disease is the most prevalent hereditary kidney disease globally and is mainly linked to the overexpression of a gene called PKD1.” | 0.98 | phenotype_alias_lexicon_v2 |
Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing.
PMID 36422197 | PMCID PMC9692281 | DOI 10.3390/medicina58111657 · Medicina (Kaunas, Lithuania) · 2022 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PKD1 | “Approximately 89% of ADPKD patients had either PKD1 or PKD2 gene mutations.” | 0.98 | hgnc_dict_v1 |
| phenotype | polycystic kidney disease | “Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | PKD2 | “Approximately 89% of ADPKD patients had either PKD1 or PKD2 gene mutations.” | 0.98 | hgnc_dict_v1 |
| gene | PKD2L2 | “Three detected variants were novel, identified at PKD1 (c.1758A > C), PKD2L2 (c.1364A > T), and TSC2 (deletion of a’a at the 3’UTR, R1680C) genes.” | 0.98 | hgnc_dict_v1 |
Exome sequencing of Saudi Arabian patients with ADPKD.
PMID 31488014 | PMCID PMC6735335 | DOI 10.1080/0886022X.2019.1655453 · Renal failure · 2019 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PKD1 | “The Consortium of Radiologic Imaging Studies of the Polycystic Kidney Disease (CRISP) cohort revealed that 89.1% had either a PKD1 or PKD2 mutation.” | 0.98 | hgnc_dict_v1 |
| phenotype | polycystic kidney disease | “Exome sequencing of Saudi Arabian patients with ADPKD.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | PKD2 | “The Consortium of Radiologic Imaging Studies of the Polycystic Kidney Disease (CRISP) cohort revealed that 89.1% had either a PKD1 or PKD2 mutation.” | 0.98 | hgnc_dict_v1 |
| gene | PKHD1 | “In seven clinically diagnosed ADPKD cases but with atypical features, no PKD1 or PKD2 mutations were identified, but rare predicted pathogenic heterozygous variants were found in cystogenic candidate genes including PKHD1, PKD1L3, EGF, CFTR, and TSC2.” | 0.98 | hgnc_dict_v1 |
Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.
PMID 31079206 | DOI 10.1007/s00467-019-04267-x · Pediatric nephrology (Berlin, Germany) · 2019 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PKD1 | “Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.” | 0.98 | hgnc_dict_v1 |
| phenotype | polycystic kidney disease | “Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | PKD2 | “Pathogenic variants in two major genes, PKD1 and PKD2, and two rarer genes, GANAB and DNAJB11, cause autosomal dominant PKD (ADPKD).” | 0.98 | hgnc_dict_v1 |
| gene | GANAB | “Pathogenic variants in two major genes, PKD1 and PKD2, and two rarer genes, GANAB and DNAJB11, cause autosomal dominant PKD (ADPKD).” | 0.98 | hgnc_dict_v1 |
Next-generation sequencing for molecular diagnosis of autosomal recessive polycystic kidney disease.
PMID 27401137 | DOI 10.1016/j.gene.2016.07.021 · Gene · 2016 · 16 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PKD1 | “The rest of the patient samples also showed few variants in ADPKD (Autosomal Dominant Polycystic Kidney Disease) disease causing genes PKD1 and PKD2 i.e. [c.12433G>A, p.(Val4145Ile)] and [c.1445T>G, p.(Phe482Cys)], respectively.” | 0.98 | hgnc_dict_v1 |
| phenotype | polycystic kidney disease | “Next-generation sequencing for molecular diagnosis of autosomal recessive polycystic kidney disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | PKHD1 | “Four potential pathogenic variants [c.4870C>T, p.(Arg1624Trp)], [c.5725C>T, p.(Arg1909Trp)], c.1736C>T, p.(Thr579Met)] and [(c.10628T>G), p.(Leu3543Trp)] were observed in PKHD1 gene among 12 out of 18 samples.” | 0.98 | hgnc_dict_v1 |
| gene | PKD2 | “The rest of the patient samples also showed few variants in ADPKD (Autosomal Dominant Polycystic Kidney Disease) disease causing genes PKD1 and PKD2 i.e. [c.12433G>A, p.(Val4145Ile)] and [c.1445T>G, p.(Phe482Cys)], respectively.” | 0.98 | hgnc_dict_v1 |
Functional alterations due to amino acid changes and evolutionary comparative analysis of ARPKD and ADPKD genes.
PMID 27843768 | PMCID PMC5099264 | DOI 10.1016/j.gdata.2016.10.009 · Genomics data · 2016 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PKD1 | “Some patient samples also showed few variants in autosomal dominant polycystic kidney disease (ADPKD) disease causing genes PKD1 and PKD2 such as c.12433G > A, p.(Val4145Ile) and c.1445T > G, p.(Phe482Cys), respectively.” | 0.98 | hgnc_dict_v1 |
| phenotype | polycystic kidney disease | “Functional alterations due to amino acid changes and evolutionary comparative analysis of ARPKD and ADPKD genes.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | PKHD1 | “The results identified four potential pathogenic variants in PKHD1 gene [c.4870C > T, p.(Arg1624Trp), c.5725C > T, p.(Arg1909Trp), c.1736C > T, p.(Thr579Met) and c.10628T > G, p.(Leu3543Trp)] among 12 out of 18 samples.” | 0.98 | hgnc_dict_v1 |
| gene | PKD2 | “Some patient samples also showed few variants in autosomal dominant polycystic kidney disease (ADPKD) disease causing genes PKD1 and PKD2 such as c.12433G > A, p.(Val4145Ile) and c.1445T > G, p.(Phe482Cys), respectively.” | 0.98 | hgnc_dict_v1 |
Molecular basis of autosomal dominant polycystic kidney disease.
PMID 15900113 | DOI 10.1097/01.pap.0000163959.29032.1f · Advances in anatomic pathology · 2005 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PKD1 | “In a majority of cases (80-85%), the gene involved is PKD1, which is located on chromosome 16 (16q13.3) and encodes polycystin-1, a large receptor-like integral membrane protein that contains several extracellular motifs indicative of cell-cell and cell-matrix interaction.” | 0.98 | hgnc_dict_v1 |
| phenotype | polycystic kidney disease | “Molecular basis of autosomal dominant polycystic kidney disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | PKD2 | “In the remaining (10-15%) cases, the disease is milder and is caused by mutational changes in another gene (PKD2), which is located at chromosome 4 (4q21-23) and encodes polcystin-2, a transmembrane protein, which acts as a nonspecific calcium-permeable channel.” | 0.98 | hgnc_dict_v1 |
| phenotype | renal failure | “As the cysts enlarge over many decades, the normal renal parenchyma is progressively destroyed, leading to renal failure.” | 0.98 | phenotype_alias_lexicon_v2 |