PRRX1, paired related homeobox 1, 5396

N. diseases: 134; N. variants: 11
Disease: Otocephaly ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906667
rs387906667
Entrez Id: 5396
Gene Symbol: PRRX1
PRRX1
CUI: C0265242
Disease:
Otocephaly 		0.800 GeneticVariation UNIPROT PRRX1 is mutated in a fetus with agnathia-otocephaly. 21294718 2011
dbSNP: rs387906667
rs387906667
Entrez Id: 5396
Gene Symbol: PRRX1
PRRX1
CUI: C0265242
Disease:
Otocephaly 		C 0.800 CausalMutation CLINVAR