FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Disease: FRAXA Syndrome ×
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: C0751156
Disease: FRAXA Syndrome
FRAXA Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 1 0.350 None 1.000 13 1995 2017