Gene: OTX2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs773157352
rs773157352
OTX2
A 0.700 CausalMutation CLINVAR Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2. 24167467

2013
dbSNP: rs773157352
rs773157352
OTX2
A 0.700 CausalMutation CLINVAR OTX2 mutations contribute to the otocephaly-dysgnathia complex. 22577225

2012
dbSNP: rs773157352
rs773157352
OTX2
A 0.700 CausalMutation CLINVAR A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. 18728160

2008