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: 63035
Gene Symbol: BCORL1
BCORL1
BCL6 corepressor like 1 0.682 0.500 1.00
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.310 moderate 1.000 1 0 2019 2019
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.310 limited 1.000 1 0 2012 2018
Entrez Id: 4929
Gene Symbol: NR4A2
NR4A2
nuclear receptor subfamily 4 group A member 2 0.529 0.846 1.00
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.310 moderate 1.000 1 0 1979 2000
Entrez Id: 1024
Gene Symbol: CDK8
CDK8
cyclin dependent kinase 8 0.597 0.654 0.41
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2
BR serine/threonine kinase 2 0.700 0.500 0.95
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 8665
Gene Symbol: EIF3F
EIF3F
eukaryotic translation initiation factor 3 subunit F 0.736 0.385 0.97
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 84628
Gene Symbol: NTNG2
NTNG2
netrin G2 0.700 0.423 1.00
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 57479
Gene Symbol: PRR12
PRR12
proline rich 12 0.716 0.385 1.00
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 54517
Gene Symbol: PUS7
PUS7
pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 51780
Gene Symbol: KDM3B
KDM3B
lysine demethylase 3B 0.686 0.500 1.00
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.300 moderate 1.000 1 0 2019 2019
Entrez Id: 29081
Gene Symbol: METTL5
METTL5
methyltransferase like 5 1.000 0.115 5.2E-05
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.300 moderate 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: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.300 None 1.000 1 0 2019 2019
Entrez Id: 192683
Gene Symbol: SCAMP5
SCAMP5
secretory carrier membrane protein 5 0.839 0.192 0.65
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.300 moderate 1.000 1 0 2010 2010
Entrez Id: 1725
Gene Symbol: DHPS
DHPS
deoxyhypusine synthase 0.670 0.538 1.6E-04
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.300 strong 1.000 1 0 2012 2012
Entrez Id: 116931
Gene Symbol: MED12L
MED12L
mediator complex subunit 12L 0.839 0.269 1.00
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.300 moderate 1.000 1 0 2019 2019
Entrez Id: 9922
Gene Symbol: IQSEC1
IQSEC1
IQ motif and Sec7 domain ArfGEF 1 0.736 0.346 1.00
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.300 moderate 1.000 1 0 2019 2019