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: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.180 None 1.000 0 1 2006 2018
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B 0.510 0.692 1.00
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.180 None 1.000 0 2 2007 2019
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.110 None 1.000 2 1 2010 2016
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.110 None 1.000 0 1 2006 2006
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.110 None 1.000 0 1 2012 2012
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.100 None 1.000 6 1 2005 2013
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
succinate dehydrogenase complex flavoprotein subunit A 0.517 0.731 2.6E-10
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.100 None 1.000 4 1 2010 2017
Entrez Id: 80155
Gene Symbol: NAA15
NAA15
N-alpha-acetyltransferase 15, NatA auxiliary subunit 0.700 0.423 1.00
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.100 None 0 1
Entrez Id: 814
Gene Symbol: CAMK4
CAMK4
calcium/calmodulin dependent protein kinase IV 0.621 0.654 0.51
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.100 None 0 1
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.100 None 0 2
Entrez Id: 7874
Gene Symbol: USP7
USP7
ubiquitin specific peptidase 7 0.538 0.808 1.00
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.100 None 0 1
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
syntaxin binding protein 1 0.532 0.692 1.00
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.100 None 0 1
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
T-box brain transcription factor 1 0.666 0.385 1.00
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.100 None 0 1
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.100 None 0 1
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
heparan-alpha-glucosaminide N-acetyltransferase 0.628 0.577 6.3E-08
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.100 None 0 1
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
synaptic Ras GTPase activating protein 1 0.584 0.577 1.00
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.100 None 0 2