Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR

Entrez Id: 8726
Gene Symbol: EED
EED
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR

Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR

Entrez Id: 9158
Gene Symbol: FIBP
FIBP
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR

Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR

Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR "Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in ""lost"" descendants of the original kindred." 11343323

2001
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR "Hypertrichosis ""cubiti"" with facial asymmetry." 7802037

1994
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR "Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""." 26593112

2016
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR "Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""." 26593112

2016
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR β-Tubulin mutations that cause severe neuropathies disrupt axonal transport. 23503589

2013
Entrez Id: 3756
Gene Symbol: KCNH1
KCNH1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR 'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes. 26264464

2015
Entrez Id: 497258
Gene Symbol: BDNF-AS
BDNF-AS
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR 11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity. 21567907

2011
Entrez Id: 627
Gene Symbol: BDNF
BDNF
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR 11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity. 21567907

2011
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR 4-Hydroxybutyric aciduria. 7726383

1994
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. 27631024

2016
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. 27631024

2016
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR A Case of KCNQ2-Associated Movement Disorder Triggered by Fever. 29129156

2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. 21194675

2011
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. 17574030

2007
Entrez Id: 22941
Gene Symbol: SHANK2
SHANK2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR A critical role of spinal Shank2 proteins in NMDA-induced pain hypersensitivity. 28326932

2017
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review. 26789910

2016
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. 25929198

2015
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR A de novo paradigm for mental retardation. 21076407

2010