Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23512
Gene Symbol: SUZ12
SUZ12 		0.300 Biomarker phenotype GENOMICS_ENGLAND PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes. 31724824 2019
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 CausalMutation phenotype CLINVAR Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. 3536967 1986
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		0.100 CausalMutation phenotype CLINVAR Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. 21671394 2011
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: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype CLINVAR DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 19344873 2009
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.100 CausalMutation phenotype 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 		0.100 GeneticVariation phenotype 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 		0.100 CausalMutation phenotype 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 		0.100 CausalMutation phenotype CLINVAR Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. 20711175 2010
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		0.100 CausalMutation phenotype CLINVAR
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: 8085
Gene Symbol: KMT2D
KMT2D 		0.100 CausalMutation phenotype CLINVAR Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. 21658225 2011
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: 57680
Gene Symbol: CHD8
CHD8 		0.100 CausalMutation phenotype 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 		0.100 CausalMutation phenotype CLINVAR Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes. 20120035 2010
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1 		0.100 CausalMutation phenotype CLINVAR LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. 9817918 1998
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		0.100 CausalMutation phenotype CLINVAR Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. 25574841 2015
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.100 CausalMutation phenotype CLINVAR Bardet-Biedl syndrome. 22713813 2013
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: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.100 CausalMutation phenotype CLINVAR Seizure characteristics in chromosome 20 benign familial neonatal convulsions. 8327138 1993
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 CausalMutation phenotype CLINVAR The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258 2007
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C 		0.100 CausalMutation phenotype CLINVAR Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. 16541399 2006
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype 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 		0.100 CausalMutation phenotype CLINVAR Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7. 16392115 2006
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.100 CausalMutation phenotype 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