Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.100 GeneticVariation phenotype CLINVAR Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. 28575650 2017
Entrez Id: 64919
Gene Symbol: BCL11B
BCL11B 		0.100 GeneticVariation phenotype 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 		0.100 GeneticVariation phenotype CLINVAR Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity. 23044507 2012
Entrez Id: 64919
Gene Symbol: BCL11B
BCL11B 		0.100 GeneticVariation phenotype 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 		0.100 GeneticVariation phenotype CLINVAR Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant. 28960266 2017
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A 		0.100 GeneticVariation phenotype 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 		0.100 GeneticVariation phenotype 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 		0.100 GeneticVariation phenotype 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 		0.100 GeneticVariation phenotype CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899 2014
Entrez Id: 4214
Gene Symbol: MAP3K1
MAP3K1 		0.100 GeneticVariation phenotype CLINVAR Rapidly screening variants of uncertain significance in the MAP3K1 gene for phenotypic effects. 22171599 2012
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.100 GeneticVariation phenotype 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 		0.100 GeneticVariation phenotype 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 		0.100 GeneticVariation phenotype CLINVAR Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency. 26095522 2016
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.100 GeneticVariation phenotype CLINVAR A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. 24668549 2014
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		0.100 GeneticVariation phenotype 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 		0.100 GeneticVariation phenotype CLINVAR ATP1A2 mutations in 11 families with familial hemiplegic migraine. 16088919 2005
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A 		0.100 GeneticVariation phenotype CLINVAR UniProt: a hub for protein information. 25348405 2015
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.100 GeneticVariation phenotype CLINVAR BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. 16582908 2006
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.100 GeneticVariation phenotype CLINVAR The evolution of phosphatidylinositol 3-kinases as regulators of growth and metabolism. 16847462 2006
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU 		0.100 GeneticVariation phenotype CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899 2014
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A 		0.100 GeneticVariation phenotype CLINVAR X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity. 24053514 2013
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		0.100 GeneticVariation phenotype 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 		0.100 GeneticVariation phenotype 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 		0.100 GeneticVariation phenotype 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 		0.100 GeneticVariation phenotype CLINVAR Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency. 26527160 2015