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: 57572
Gene Symbol: DOCK6
DOCK6
dedicator of cytokinesis 6 0.610 0.577 1.3E-26
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1
disease 0.700 strong 1.000 0 0 2011 2019
Entrez Id: 57514
Gene Symbol: ARHGAP31
ARHGAP31
Rho GTPase activating protein 31 0.581 0.615 1.00
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1
disease 0.650 None 1.000 4 0 1979 2018
Entrez Id: 285203
Gene Symbol: EOGT
EOGT
EGF domain specific O-linked N-acetylglucosamine transferase 0.641 0.500 5.0E-09
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1
disease 0.560 strong 1.000 1 0 2013 2019
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
notch receptor 1 0.369 0.885 1.00
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1
disease 0.560 None 1.000 1 0 2014 2019
Entrez Id: 54567
Gene Symbol: DLL4
DLL4
delta like canonical Notch ligand 4 0.494 0.769 1.00
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1
disease 0.540 strong 1.000 0 0 2015 2020
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ
recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1
disease 0.510 None 1.000 2 0 2012 2018