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: 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: 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: 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: 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: 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: 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: 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: 3020
Gene Symbol: H3-3A
H3-3A
H3.3 histone A 0.559 0.692 0.12
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 12 1 1997 2015
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: 3756
Gene Symbol: KCNH1
KCNH1
potassium voltage-gated channel subfamily H member 1 0.542 0.731 0.55
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 8 1 1998 2016
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: 2645
Gene Symbol: GCK
GCK
glucokinase 0.523 0.808 0.63
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 5 1 2004 2016
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: 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: 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
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: 2554
Gene Symbol: GABRA1
GABRA1
gamma-aminobutyric acid type A receptor subunit alpha1 0.563 0.577 0.91
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 11 1 1997 2016
Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
paired like homeobox 2B 0.565 0.731 0.94
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 4 1 2003 2017
Entrez Id: 26137
Gene Symbol: ZBTB20
ZBTB20
zinc finger and BTB domain containing 20 0.566 0.731 0.97
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 7 1 2009 2017
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: 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: 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: 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: 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: 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