×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
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
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
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
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
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
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
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
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
Overgrowth
0.100
CausalMutation
CLINVAR
×
Entrez Id:
627
Gene Symbol:
BDNF
BDNF
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
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
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
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
Overgrowth
0.100
CausalMutation
CLINVAR
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.
20120035
2010
PAFAH1B1
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
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
Overgrowth
0.100
CausalMutation
CLINVAR
Bardet-Biedl syndrome.
22713813
2013
×
Entrez Id:
1106
Gene Symbol:
CHD2
CHD2
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
Overgrowth
0.100
CausalMutation
CLINVAR
Seizure characteristics in chromosome 20 benign familial neonatal convulsions.
8327138
1993
SCN1A-AS1
Overgrowth
0.100
CausalMutation
CLINVAR
The spectrum of SCN1A-related infantile epileptic encephalopathies.
17347258
2007
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
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
Overgrowth
0.100
CausalMutation
CLINVAR
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
23849776
2013
SCN1A-AS1
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
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
Overgrowth
0.100
CausalMutation
CLINVAR
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.
10802661
2000