PAX4, paired box 4, 5078

N. diseases: 63; N. variants: 8
Disease: Maturity onset diabetes mellitus in young ×
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: C0342276
Disease:
Maturity onset diabetes mellitus in young 		0.010 GeneticVariation BEFREE These results suggested that PAX4 R192H polymorphism generated a protein with defect in transcriptional repressor activities on its target genes, which may lead to β-cell dysfunction associated with MODY and early onset-age of T2D as reported in our previous study. 22521316 2013