Prostatic Neoplasms
|
0.320 |
GeneticVariation
|
group |
LHGDN |
Podocalyxin variants and risk of prostate cancer and tumor aggressiveness.
|
16434482 |
2006 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Discovery of a frameshift mutation in podocalyxin-like (PODXL) gene, coding for a neural adhesion molecule, as causal for autosomal-recessive juvenile Parkinsonism.
|
26864383 |
2016 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
Discovery of a frameshift mutation in podocalyxin-like (PODXL) gene, coding for a neural adhesion molecule, as causal for autosomal-recessive juvenile Parkinsonism.
|
26864383 |
2016 |
Systolic Pressure
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.
|
30578418 |
2019 |
Tumor Cell Invasion
|
0.070 |
GeneticVariation
|
phenotype |
BEFREE |
It is reported that oncogenic exosomes contain factors known to regulate the pre-metastatic niche (S100A4, F3, ITGβ5, ANXA1), clinically-relevant proteins which correlate with poor prognosis (CLDN1, MUC1) as well as protein networks involved in various cancer hallmarks including proliferation (CLU, CAV1), invasion (PODXL, ITGA3), metastasis (LAMP1, ST14) and immune surveillance escape (B2M).
|
30893511 |
2019 |
Focal glomerulosclerosis
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
This is the first study to date that demonstrates, mechanistically, how autosomal dominant mutations in podocalyxin can lead to FSGS and renal insufficiency.
|
30737302 |
2019 |
Focal glomerulosclerosis
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Thus, a variant form of PODXL remains the most likely candidate causing FSGS in one family with autosomal dominant inheritance, but its full effect on protein function remains unknown.
|
24048372 |
2014 |
Kidney Diseases
|
0.030 |
GeneticVariation
|
group |
BEFREE |
Gene expression studies highlighted the differential expression of several genes involved in prostaglandin metabolism (AKR1C18), heme and iron metabolism (HbA-A2, HMOX1, SCL25A37), electrolyte balance (SLC4A1, AQP6), immunity (RSAD2, C3, UBE2O), fatty acid metabolism (FASN), hypoxia hall-mark genes (GCK, SDC3, VEGFA, ETS1, CP, BCL2), as well as genes implicated in other forms of kidney disease (PODXL, ELMO1, FRMD3, MYH9, APOA1).
|
29476712 |
2018 |
Kidney Failure
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
However, the data do suggest that Wt1 R394W-induced glomerulosclerosis may be independent of downregulation of the genes for NPHS1, NPHS2, CD2AP, and podocalyxin and may involve other genes yet to be implicated in renal failure.
|
15509792 |
2004 |
Kidney Failure
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
This is the first study to date that demonstrates, mechanistically, how autosomal dominant mutations in podocalyxin can lead to FSGS and renal insufficiency.
|
30737302 |
2019 |
Parkinson Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the podocalyxin-like gene (PODXL) have been recently identified in a consanguineous Indian family with juvenile-onset Parkinson's disease (PD) and 3 unrelated patients with PD.
|
31564376 |
2019 |
Glomerulosclerosis (disorder)
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
However, the data do suggest that Wt1 R394W-induced glomerulosclerosis may be independent of downregulation of the genes for NPHS1, NPHS2, CD2AP, and podocalyxin and may involve other genes yet to be implicated in renal failure.
|
15509792 |
2004 |
Renal Insufficiency
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
This is the first study to date that demonstrates, mechanistically, how autosomal dominant mutations in podocalyxin can lead to FSGS and renal insufficiency.
|
30737302 |
2019 |
Autosomal dominant focal segmental glomerulosclerosis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Recently, a novel heterozygous missense mutation c.T1421G (p. L474R) in the <i>PODXL</i> gene encoding podocalyxin was identified in an autosomal dominant focal segmental glomerulosclerosis (AD-FSGS) pedigree.
|
30523047 |
2019 |
Young onset Parkinson disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis of PODXL gene in patients with familial and young-onset Parkinson's disease in a Taiwanese population.
|
31564376 |
2019 |
Malignant neoplasm of prostate
|
0.330 |
Biomarker
|
disease |
BEFREE |
Podocalyxin (Podxl) is a CD34 orthologue and cell surface sialomucin reported to have roles in renal podocyte diaphragm slit development; vascular cell integrity; and the progression of blood, breast, and prostate cancers.
|
28408238 |
2017 |
Malignant neoplasm of prostate
|
0.330 |
Biomarker
|
disease |
CTD_human |
These results implicate PODXL as a candidate prostate cancer tumor aggressiveness gene mapping to chromosome 7q32-q33.
|
16434482 |
2006 |
Malignant neoplasm of prostate
|
0.330 |
Biomarker
|
disease |
BEFREE |
These results implicate PODXL as a candidate prostate cancer tumor aggressiveness gene mapping to chromosome 7q32-q33.
|
16434482 |
2006 |
Prostatic Neoplasms
|
0.320 |
Biomarker
|
group |
CTD_human |
Podocalyxin variants and risk of prostate cancer and tumor aggressiveness.
|
16434482 |
2006 |
Nephrosis, congenital
|
0.310 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Exome sequencing and in vitro studies identified podocalyxin as a candidate gene for focal and segmental glomerulosclerosis.
|
24048372 |
2014 |
Nephrosis, congenital
|
0.310 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
|
28117080 |
2017 |
Nephrosis, congenital
|
0.310 |
Biomarker
|
disease |
BEFREE |
Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome.
|
29244787 |
2017 |
Carotid Artery Diseases
|
0.300 |
Biomarker
|
group |
CTD_human |
Diminished thrombogenic responses by deletion of the Podocalyxin Gene in mouse megakaryocytes.
|
22016802 |
2011 |
Hemorrhage
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Diminished thrombogenic responses by deletion of the Podocalyxin Gene in mouse megakaryocytes.
|
22016802 |
2011 |
Nephrotic Syndrome
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
First identification of PODXL nonsense mutations in autosomal dominant focal segmental glomerulosclerosis.
|
30523047 |
2019 |