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: 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: 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: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 14 3 2001 2015
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: 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: 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: 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: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 21 1 1991 2016
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 13 2 1996 2016
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: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 19 1 1993 2016
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 10381
Gene Symbol: TUBB3
TUBB3
tubulin beta 3 class III 0.486 0.808 2.6E-10
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 10 1 2010 2016
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
platelet activating factor acetylhydrolase 1b regulatory subunit 1 0.504 0.769 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 6 1 1997 2017
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: 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