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: 3899
Gene Symbol: AFF3
AFF3
AF4/FMR2 family member 3 0.623 0.692 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 None 1.000 0 1 2008 2008
Entrez Id: 3899
Gene Symbol: AFF3
AFF3
AF4/FMR2 family member 3 0.623 0.692 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease 0.100 None 0 1
Entrez Id: 3899
Gene Symbol: AFF3
AFF3
AF4/FMR2 family member 3 0.623 0.692 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 3899
Gene Symbol: AFF3
AFF3
AF4/FMR2 family member 3 0.623 0.692 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 3899
Gene Symbol: AFF3
AFF3
AF4/FMR2 family member 3 0.623 0.692 1.00
Delayed speech and language development
phenotype 0.100 None 0 1
Entrez Id: 3899
Gene Symbol: AFF3
AFF3
AF4/FMR2 family member 3 0.623 0.692 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 1
Entrez Id: 3899
Gene Symbol: AFF3
AFF3
AF4/FMR2 family member 3 0.623 0.692 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 1
Entrez Id: 3899
Gene Symbol: AFF3
AFF3
AF4/FMR2 family member 3 0.623 0.692 1.00
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
disease 0.100 None 0 1