ATRX, ATRX chromatin remodeler, 546

N. diseases: 412; N. variants: 38
Disease: Juberg-Marsidi 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: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 14 0.720 definitive 1.000 20 10 1995 2020