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: 55750
Gene Symbol: AGK
AGK
acylglycerol kinase 0.650 0.654 6.0E-09
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 6 2 2012 2017
Entrez Id: 191
Gene Symbol: AHCY
AHCY
adenosylhomocysteinase 0.582 0.692 3.6E-02
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 5 1 2006 2016
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
aldehyde dehydrogenase 5 family member A1 0.619 0.462 3.1E-07
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 6 1 1994 2016
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
aldehyde dehydrogenase 7 family member A1 0.551 0.769 1.4E-22
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 9 1 1996 2013
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 7 1 1992 2017
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: 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
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 8 1 1999 2013
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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