PODXL, podocalyxin like, 5420

N. diseases: 156; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3800684
rs3800684
Entrez Id: 5420
Gene Symbol: PODXL
PODXL
CUI: C0871470
Disease:
Systolic Pressure
C 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
dbSNP: rs1554391082
rs1554391082
Entrez Id: 5420
Gene Symbol: PODXL
PODXL
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
GGGGGCGAC 0.700 GeneticVariation 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
dbSNP: rs367825197
rs367825197
Entrez Id: 5420
Gene Symbol: PODXL
PODXL
CUI: C1565489
Disease:
Renal Insufficiency
0.010 GeneticVariation BEFREE In the present study, we report the identification of a heterozygous nonsense <i>PODXL</i> mutation (c.C976T; p. Arg326X) in a Chinese pedigree featured by proteinuria and renal insufficiency with AD inheritance by whole exome sequencing (WES). 30523047 2019
dbSNP: rs367825197
rs367825197
Entrez Id: 5420
Gene Symbol: PODXL
PODXL
CUI: C0035078
Disease:
Kidney Failure
0.010 GeneticVariation BEFREE In the present study, we report the identification of a heterozygous nonsense <i>PODXL</i> mutation (c.C976T; p. Arg326X) in a Chinese pedigree featured by proteinuria and renal insufficiency with AD inheritance by whole exome sequencing (WES). 30523047 2019
dbSNP: rs786204840
rs786204840
Entrez Id: 5420
Gene Symbol: PODXL
PODXL
CUI: C2919166
Disease:
Autosomal dominant focal segmental glomerulosclerosis
0.010 GeneticVariation 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
dbSNP: rs760336723
rs760336723
Entrez Id: 5420
Gene Symbol: PODXL
PODXL
CUI: C0950121
Disease:
Denys-Drash Syndrome
0.010 GeneticVariation BEFREE The Wt1+/R394W mouse displays glomerulosclerosis and early-onset renal failure characteristic of human Denys-Drash syndrome. 15509792 2004
dbSNP: rs760336723
rs760336723
Entrez Id: 5420
Gene Symbol: PODXL
PODXL
CUI: C0178664
Disease:
Glomerulosclerosis (disorder)
0.010 GeneticVariation 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
dbSNP: rs760336723
rs760336723
Entrez Id: 5420
Gene Symbol: PODXL
PODXL
CUI: C0035078
Disease:
Kidney Failure
0.010 GeneticVariation 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