PRRX1, paired related homeobox 1, 5396

N. diseases: 134; N. variants: 11
Disease: Congenital Abnormality ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 GeneticVariation group BEFREE Agnathia-otocephaly is a rare craniofacial malformation complex that is caused by de novo heterozygous and biallelic mutations in PRRX1 in two unrelated babies, respectively. 23444262 2013
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 GeneticVariation group BEFREE This localization, along with the recently described phenotypes of the gene-targeted Prrx1, Prrx2 and double mutant mice, enabled us to search the human disease databases for similar malformations. 11063257 2000