PRRX1, paired related homeobox 1, 5396

N. diseases: 134; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3494425
Disease: Mandibular Retroposition
Mandibular Retroposition
0.300 Biomarker phenotype CTD_human Recurrent agnathia-otocephaly caused by DNA replication slippage in PRRX1. 23444262 2013