Source: GENOMICS_ENGLAND

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: 10236
Gene Symbol: HNRNPR
HNRNPR 		heterogeneous nuclear ribonucleoprotein R 0.722 0.308 1.00
CUI: C4225275
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 		disease 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 28514
Gene Symbol: DLL1
DLL1 		delta like canonical Notch ligand 1 0.492 0.808 1.00
CUI: C4225275
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 		disease 0.300 limited 1.000 1 0 2019 2019
Entrez Id: 5455
Gene Symbol: POU3F3
POU3F3 		POU class 3 homeobox 3 0.682 0.615 0.88
CUI: C4225275
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 		disease 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E 		lysine methyltransferase 2E 0.682 0.423 1.00
CUI: C4225275
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 		disease 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 57551
Gene Symbol: TAOK1
TAOK1 		TAO kinase 1 0.792 0.269 1.00
CUI: C4225275
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 		disease 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C4225275
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 		disease 0.300 strong 1.000 1 0 2003 2003
Entrez Id: 6844
Gene Symbol: VAMP2
VAMP2 		vesicle associated membrane protein 2 0.650 0.462 0.89
CUI: C4225275
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 		disease 0.300 moderate 1.000 1 0 2019 2019
Entrez Id: 9704
Gene Symbol: DHX34
DHX34 		DExH-box helicase 34 1.000 6.6E-13
CUI: C4225275
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 		disease 0.300 limited 1.000 1 0 2019 2019