PODXL, podocalyxin like, 5420

N. diseases: 156; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.320 GeneticVariation group LHGDN Podocalyxin variants and risk of prostate cancer and tumor aggressiveness. 16434482 2006
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
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
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
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
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
CUI: C1269955
Disease: Tumor Cell Invasion
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
CUI: C0017668
Disease: Focal glomerulosclerosis
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
CUI: C0017668
Disease: Focal glomerulosclerosis
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
CUI: C0022658
Disease: Kidney Diseases
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
CUI: C0035078
Disease: Kidney Failure
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
CUI: C0035078
Disease: Kidney Failure
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
CUI: C0030567
Disease: Parkinson Disease
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
CUI: C0178664
Disease: Glomerulosclerosis (disorder)
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
CUI: C1565489
Disease: Renal Insufficiency
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
CUI: C2919166
Disease: Autosomal dominant focal segmental glomerulosclerosis
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
CUI: C4275179
Disease: Young onset Parkinson disease
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
CUI: C0376358
Disease: Malignant neoplasm of prostate
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
CUI: C0376358
Disease: Malignant neoplasm of prostate
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
CUI: C0376358
Disease: Malignant neoplasm of prostate
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
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.320 Biomarker group CTD_human Podocalyxin variants and risk of prostate cancer and tumor aggressiveness. 16434482 2006
CUI: C3501848
Disease: Nephrosis, congenital
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
CUI: C3501848
Disease: Nephrosis, congenital
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
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		0.310 Biomarker disease BEFREE Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome. 29244787 2017
CUI: C0007273
Disease: Carotid Artery Diseases
Carotid Artery Diseases 		0.300 Biomarker group CTD_human Diminished thrombogenic responses by deletion of the Podocalyxin Gene in mouse megakaryocytes. 22016802 2011
CUI: C0019080
Disease: Hemorrhage
Hemorrhage 		0.300 Biomarker phenotype CTD_human Diminished thrombogenic responses by deletion of the Podocalyxin Gene in mouse megakaryocytes. 22016802 2011
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.300 Biomarker group GENOMICS_ENGLAND First identification of PODXL nonsense mutations in autosomal dominant focal segmental glomerulosclerosis. 30523047 2019