Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		0.100 CausalMutation phenotype CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.100 CausalMutation phenotype CLINVAR Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome. 25132236 2015
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 CausalMutation phenotype CLINVAR Identification of PN1, a predominant voltage-dependent sodium channel expressed principally in peripheral neurons. 9037087 1997
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1 		0.100 CausalMutation phenotype CLINVAR Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). 20554659 2010
Entrez Id: 7204
Gene Symbol: TRIO
TRIO 		0.100 CausalMutation phenotype CLINVAR TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function. 26721934 2016
Entrez Id: 5053
Gene Symbol: PAH
PAH 		0.100 CausalMutation phenotype CLINVAR Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations. 9399896 1997
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 CausalMutation phenotype CLINVAR Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients. 21269283 2011
Entrez Id: 340533
Gene Symbol: NEXMIF
NEXMIF 		0.100 CausalMutation phenotype CLINVAR X-linked intellectual disability related genes disrupted by balanced X-autosome translocations. 26290131 2015
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		0.100 CausalMutation phenotype CLINVAR ACOG committee opinion. Number 318, October 2005. Screening for Tay-Sachs disease. 16199656 2005
Entrez Id: 340533
Gene Symbol: NEXMIF
NEXMIF 		0.100 CausalMutation phenotype CLINVAR Transient expression of Xpn, an XLMR protein related to neurite extension, during brain development and participation in neurite outgrowth. 22531377 2012
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B 		0.100 CausalMutation phenotype CLINVAR Variants in CUL4B are associated with cerebral malformations. 25385192 2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.100 CausalMutation phenotype CLINVAR KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. 27602407 2016
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		0.100 CausalMutation phenotype CLINVAR Diagnostic criteria of familial Mediterranean fever. 24424166 2014
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.100 CausalMutation phenotype CLINVAR Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. 16414944 2005
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.100 CausalMutation phenotype CLINVAR Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. 20129935 2010
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C 		0.100 CausalMutation phenotype CLINVAR Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations. 23999528 2014
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.100 CausalMutation phenotype CLINVAR Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures. 17675531 2007
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		0.100 CausalMutation phenotype CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		0.100 CausalMutation phenotype CLINVAR Clinical Review: Familial Mediterranean Fever-An Overview of Pathogenesis, Symptoms, Ocular Manifestations, and Treatment. 25760918 2016
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A 		0.100 CausalMutation phenotype CLINVAR Sodium-calcium exchanger and multiple sodium channel isoforms in intra-epidermal nerve terminals. 21118538 2010
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.100 CausalMutation phenotype CLINVAR BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540 2011
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		0.100 CausalMutation phenotype CLINVAR Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis. 27939639 2017
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 CausalMutation phenotype CLINVAR A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. 19763161 2009
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		0.100 CausalMutation phenotype CLINVAR The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. 11468188 2001
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.100 CausalMutation phenotype CLINVAR A novel mutation in the KCNH2 gene associated with short QT syndrome. 21130771 2011