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: 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: 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: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 0 1
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: 2719
Gene Symbol: GPC3
GPC3
glypican 3 0.466 0.808 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 0 1
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
G protein subunit alpha q 0.516 0.808 0.98
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 0 1
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: 339400
Gene Symbol: FLG-AS1
FLG-AS1
FLG antisense RNA 1 0.700 0.538
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 1 1 2006 2006
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 1 1 2007 2007
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
myosin VIIA 0.585 0.423 1.6E-38
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 13 2 1995 2011
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 11 1 1986 2011
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: 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: 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: 4607
Gene Symbol: MYBPC3
MYBPC3
myosin binding protein C3 0.593 0.385 8.0E-11
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 7 1 1995 2013
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: 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: 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: 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: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 19 1 1997 2014
Entrez Id: 4810
Gene Symbol: NHS
NHS
NHS actin remodeling regulator 0.466 0.846 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 7 1 2002 2014
Entrez Id: 91461
Gene Symbol: PKDCC
PKDCC
protein kinase domain containing, cytoplasmic 0.821 0.154 2.1E-05
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 5 1 2009 2014
Entrez Id: 54499
Gene Symbol: TMCO1
TMCO1
transmembrane and coiled-coil domains 1 0.588 0.654 9.4E-10
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 4 2 2010 2014
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
neuroligin 3 0.653 0.462 0.98
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 4 1 2003 2014
Entrez Id: 5053
Gene Symbol: PAH
PAH
phenylalanine hydroxylase 0.516 0.769 6.4E-23
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 17 2 1993 2015