TFAP2B, transcription factor AP-2 beta, 7021

N. diseases: 128; N. variants: 23
Source: ALL
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: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 2 9 0.990 None 1.000 14 9 1995 2019