PRRX1, paired related homeobox 1, 5396

N. diseases: 134; N. variants: 11
Disease: Otocephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265242
Disease: Otocephaly
Otocephaly 		0.620 GeneticVariation disease 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: C0265242
Disease: Otocephaly
Otocephaly 		0.620 Biomarker disease BEFREE In this study we report a sporadic case of agnathia-otocephaly complex with associated features of maldevelopment and examine the roles of OTX2 and PRRX1. 22198066 2012
CUI: C0265242
Disease: Otocephaly
Otocephaly 		0.620 GermlineCausalMutation disease ORPHANET PRRX1 is mutated in a fetus with agnathia-otocephaly. 21294718 2011
CUI: C0265242
Disease: Otocephaly
Otocephaly 		0.620 GeneticVariation disease UNIPROT PRRX1 is mutated in a fetus with agnathia-otocephaly. 21294718 2011
CUI: C0265242
Disease: Otocephaly
Otocephaly 		0.620 CausalMutation disease CLINVAR