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: 55209
Gene Symbol: SETD5
SETD5 		SET domain containing 5 0.560 0.731 1.00
CUI: C3810406
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 		disease 0.700 None 1.000 0 16 2014 2018
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		SET domain containing 5 0.560 0.731 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.120 None 1.000 26 1 1995 2018
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		SET domain containing 5 0.560 0.731 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 26 1 1995 2018
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		SET domain containing 5 0.560 0.731 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 26 1 1995 2018
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		SET domain containing 5 0.560 0.731 1.00
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 0 2