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: 2312
Gene Symbol: FLG
FLG
filaggrin 0.525 0.846 2.9E-04
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 1 1 2006 2006
Entrez Id: 9158
Gene Symbol: FIBP
FIBP
FGF1 intracellular binding protein 0.674 0.538 4.4E-06
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 0 1
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: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 29 2 1986 2016
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 5 1 1998 2013
Entrez Id: 8726
Gene Symbol: EED
EED
embryonic ectoderm development 0.588 0.615 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 0 1
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: 1767
Gene Symbol: DNAH5
DNAH5
dynein axonemal heavy chain 5 0.590 0.692 4.9E-64
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 6 1 2002 2013
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: 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: 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: 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: 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: 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: 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: 7862
Gene Symbol: BRPF1
BRPF1
bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 2 1 2017 2017
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 6 1 2005 2013
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: 64919
Gene Symbol: BCL11B
BCL11B
BAF chromatin remodeling complex subunit BCL11B 0.568 0.731 0.99
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 19 1 2003 2016
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 3 1 2007 2013
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
Bardet-Biedl syndrome 10 0.644 0.538 1.7E-12
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 17 4 1999 2013
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
arginine vasopressin receptor 2 0.568 0.769 0.56
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 9 1 1999 2015
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: 55252
Gene Symbol: ASXL2
ASXL2
ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 0 1