PRRX1, paired related homeobox 1, 5396

N. diseases: 134; N. variants: 11
Disease: Dysgnathia complex ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1876185
Disease: Dysgnathia complex
Dysgnathia complex 		0.500 Biomarker disease CTD_human Recurrent agnathia-otocephaly caused by DNA replication slippage in PRRX1. 23444262 2013
CUI: C1876185
Disease: Dysgnathia complex
Dysgnathia complex 		0.500 GermlineCausalMutation disease ORPHANET PRRX1 is mutated in a fetus with agnathia-otocephaly. 21294718 2011