Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease 0.200 None 1.000 0 1 1996 2017
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease 0.130 None 1.000 0 1 2000 2012
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.410 None 1.000 0 1 2009 2009
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
Alpha-Thalassemia Myelodysplasia Syndrome
disease 0.710 moderate 1.000 0 3 2003 2006