Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. 3536967

1986
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. 21671394

2011
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. 28575650

2017
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 19344873

2009
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome. 23754335

2013
Entrez Id: 64919
Gene Symbol: BCL11B
BCL11B
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Dual role of COUP-TF-interacting protein 2 in epidermal homeostasis and permeability barrier formation. 19092943

2009
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy. 10781098

2000
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. 20711175

2010
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR

Entrez Id: 627
Gene Symbol: BDNF
BDNF
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity. 23044507

2012
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. 21658225

2011
Entrez Id: 64919
Gene Symbol: BCL11B
BCL11B
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Genome-wide identification of Bcl11b gene targets reveals role in brain-derived neurotrophic factor signaling. 21912641

2011
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR CHD8 is an independent prognostic indicator that regulates Wnt/β-catenin signaling and the cell cycle in gastric cancer. 23835524

2013
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes. 20120035

2010
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. 9817918

1998
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. 25574841

2015
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Bardet-Biedl syndrome. 22713813

2013
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant. 28960266

2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Seizure characteristics in chromosome 20 benign familial neonatal convulsions. 8327138

1993
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258

2007
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. 16541399

2006
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776

2013
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7. 16392115

2006
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. 11179009

2001
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. 10802661

2000