Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57680
Gene Symbol: CHD8
CHD8 		0.100 GeneticVariation phenotype CLINVAR A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review. 26789910 2016
Entrez Id: 8925
Gene Symbol: HERC1
HERC1 		0.100 GeneticVariation phenotype CLINVAR A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum. 27108999 2016
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C 		0.100 CausalMutation phenotype CLINVAR MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review. 27255693 2016
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		0.100 CausalMutation phenotype CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799 2016
Entrez Id: 8417
Gene Symbol: STX7
STX7 		0.100 GeneticVariation phenotype CLINVAR Mosaic parental germline mutations causing recurrent forms of malformations of cortical development. 26395554 2016
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.100 CausalMutation phenotype CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478 2015
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1 		0.100 GeneticVariation phenotype CLINVAR NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. 25220016 2015
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		0.100 CausalMutation phenotype CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381 2015
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		0.100 GeneticVariation phenotype CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381 2015
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A 		0.100 CausalMutation phenotype CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777 2015
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.100 CausalMutation phenotype CLINVAR Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report. 25606425 2014
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24 		0.100 CausalMutation phenotype CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
Entrez Id: 57680
Gene Symbol: CHD8
CHD8 		0.100 GeneticVariation phenotype CLINVAR Disruptive CHD8 mutations define a subtype of autism early in development. 24998929 2014
Entrez Id: 3832
Gene Symbol: KIF11
KIF11 		0.100 CausalMutation phenotype CLINVAR Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations. 25124931 2014
Entrez Id: 27245
Gene Symbol: AHDC1
AHDC1 		0.100 CausalMutation phenotype CLINVAR De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. 24791903 2014
Entrez Id: 57680
Gene Symbol: CHD8
CHD8 		0.100 CausalMutation phenotype CLINVAR Disruptive CHD8 mutations define a subtype of autism early in development. 24998929 2014
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B 		0.100 GeneticVariation phenotype CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811 2014
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24 		0.100 CausalMutation phenotype CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
Entrez Id: 3832
Gene Symbol: KIF11
KIF11 		0.100 CausalMutation phenotype CLINVAR Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature. 25115524 2014
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		0.100 CausalMutation phenotype CLINVAR Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. 23647072 2013
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B 		0.100 GeneticVariation phenotype CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942 2013
Entrez Id: 3786
Gene Symbol: KCNQ3
KCNQ3 		0.100 CausalMutation phenotype CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013
Entrez Id: 11152
Gene Symbol: WDR45
WDR45 		0.100 GeneticVariation phenotype CLINVAR β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. 23687123 2013
Entrez Id: 11152
Gene Symbol: WDR45
WDR45 		0.100 GeneticVariation phenotype CLINVAR De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. 23435086 2013
Entrez Id: 3786
Gene Symbol: KCNQ3
KCNQ3 		0.100 CausalMutation phenotype CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937 2012