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: 1788
Gene Symbol: DNMT3A
DNMT3A
DNA methyltransferase 3 alpha 0.445 0.846 7.4E-39
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 36 1 1989 2018
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
mediator complex subunit 13L 0.617 0.538 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 16 1 1971 2018
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 14 3 2006 2018
Entrez Id: 894
Gene Symbol: CCND2
CCND2
cyclin D2 0.477 0.808 0.99
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 13 1 2004 2018
Entrez Id: 497258
Gene Symbol: BDNF-AS
BDNF-AS
BDNF antisense RNA 0.638 0.538
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 6 1 2001 2018
Entrez Id: 627
Gene Symbol: BDNF
BDNF
brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 6 1 2001 2018
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 29 1 1980 2017
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 26 1 1985 2017
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 25 1 1988 2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 22 1 1991 2017
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 22 1 1989 2017
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
DEAD-box helicase 3 X-linked 0.537 0.769 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 16 1 1989 2017
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
chromodomain helicase DNA binding protein 8 0.656 0.577 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 13 2 2008 2017
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU
heterogeneous nuclear ribonucleoprotein U 0.575 0.654 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 13 1 2010 2017
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
chromodomain helicase DNA binding protein 2 0.585 0.577 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 12 1 2007 2017
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 12 1 1992 2017
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
MEFV innate immuity regulator, pyrin 0.440 0.885 1.0E-14
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 12 1 1967 2017
Entrez Id: 22941
Gene Symbol: SHANK2
SHANK2
SH3 and multiple ankyrin repeat domains 2 0.663 0.385 8.4E-07
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 12 1 2010 2017
Entrez Id: 340533
Gene Symbol: NEXMIF
NEXMIF
neurite extension and migration factor 0.659 0.385 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 11 1 2004 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 10 1 2010 2017
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
cullin 4B 0.556 0.769 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 10 1 2000 2017
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
GNAS complex locus 0.420 0.885 0.68
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 10 1 1993 2017
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
WD repeat domain 45 0.647 0.423 0.99
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 10 1 2010 2017
Entrez Id: 7204
Gene Symbol: TRIO
TRIO
trio Rho guanine nucleotide exchange factor 0.556 0.731 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 9 1 1996 2017
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
ubiquitin conjugating enzyme E2 A 0.623 0.692 0.81
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 8 1 2006 2017