PAX4, paired box 4, 5078

N. diseases: 63; N. variants: 8
Disease: Diabetes ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2233580
rs2233580
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011847
Disease:
Diabetes 		0.030 GeneticVariation BEFREE Minor allele (T) of PAX4 R192H is associated with younger onset diabetes among Chinese in Singapore. 30528630 2019
dbSNP: rs2233580
rs2233580
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011847
Disease:
Diabetes 		0.030 GeneticVariation BEFREE The risk allele (T) of PAX4 rs2233580 was associated with a younger age at diabetes diagnosis. 27744525 2017
dbSNP: rs2233580
rs2233580
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011847
Disease:
Diabetes 		0.030 GeneticVariation BEFREE Single-nucleotide polymorphism R192H might influence the age at onset of diabetes. 17426099 2007
dbSNP: rs121917718
rs121917718
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011847
Disease:
Diabetes 		0.010 GeneticVariation BEFREE R164W segregated with diabetes in the family of the proband and in vitro studies showed that it impairs the repressor activity of PAX4 on the insulin and glucagon promoters. 17426099 2007
dbSNP: rs114202595
rs114202595
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011847
Disease:
Diabetes 		0.010 GeneticVariation BEFREE The odds ratio of diabetes in the R121W variants was 5.98 with 95% confidence interval from 1.50 to 23.9. 12604352 2003