Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8195
Gene Symbol: MKKS
MKKS 		0.100 CausalMutation phenotype CLINVAR Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. 10802661 2000
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		0.100 CausalMutation phenotype CLINVAR Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy. 16829045 2006
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 CausalMutation phenotype CLINVAR Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief. 21463290 2011
Entrez Id: 11152
Gene Symbol: WDR45
WDR45 		0.100 CausalMutation phenotype CLINVAR Early manifestations of BPAN in a pediatric patient. 25263061 2014
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: 22941
Gene Symbol: SHANK2
SHANK2 		0.100 CausalMutation phenotype CLINVAR Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. 22346768 2012
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 CausalMutation phenotype CLINVAR FBN1 contributing to familial congenital diaphragmatic hernia. 25736269 2015
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: 64919
Gene Symbol: BCL11B
BCL11B 		0.100 GeneticVariation phenotype CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899 2014
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: 3845
Gene Symbol: KRAS
KRAS 		0.100 Biomarker phenotype HPO
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: 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: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.100 CausalMutation phenotype CLINVAR KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. 27602407 2016