Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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: 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: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients. 21108393

2010
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: 2200
Gene Symbol: FBN1
FBN1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. 23897642

2013
Entrez Id: 64919
Gene Symbol: BCL11B
BCL11B
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899

2014
Entrez Id: 4214
Gene Symbol: MAP3K1
MAP3K1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Rapidly screening variants of uncertain significance in the MAP3K1 gene for phenotypic effects. 22171599

2012
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Establishment of the dorso-ventral axis in Xenopus embryos is presaged by early asymmetries in beta-catenin that are modulated by the Wnt signaling pathway. 9060476

1997
Entrez Id: 64919
Gene Symbol: BCL11B
BCL11B
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion. 24458984

2014
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency. 26095522

2016
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. 24668549

2014
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene. 8776602

1996
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR ATP1A2 mutations in 11 families with familial hemiplegic migraine. 16088919

2005
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405

2015
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. 16582908

2006
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR The evolution of phosphatidylinositol 3-kinases as regulators of growth and metabolism. 16847462

2006
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899

2014
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity. 24053514

2013
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. 18181211

2008
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. 27431290

2017
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome. 23754335

2013
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency. 26527160

2015