PAX1, paired box 1, 5075

N. diseases: 2; N. variants: 3
Source: CURATED ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1833691
Disease: Otofaciocervical Syndrome
Otofaciocervical Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 2 0.530 None 1.000 1 2013 2018
CUI: C3714942
Disease: OTOFACIOCERVICAL SYNDROME 2
OTOFACIOCERVICAL SYNDROME 2 		disease Disease or Syndrome 1 2 0.410 None 1.000 1 2 2013 2018