Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 GeneticVariation 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
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 GeneticVariation 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
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 CausalMutation CLINVAR MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review. 27255693

2016
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
Entrez Id: 8417
Gene Symbol: STX7
STX7
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 GeneticVariation CLINVAR Mosaic parental germline mutations causing recurrent forms of malformations of cortical development. 26395554

2016
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 GeneticVariation CLINVAR NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. 25220016

2015
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 CausalMutation 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
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 GeneticVariation 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
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 CausalMutation CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777

2015
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 CausalMutation CLINVAR Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report. 25606425

2014
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 GeneticVariation CLINVAR Disruptive CHD8 mutations define a subtype of autism early in development. 24998929

2014
Entrez Id: 3832
Gene Symbol: KIF11
KIF11
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 CausalMutation 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
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 CausalMutation 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
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 CausalMutation CLINVAR Disruptive CHD8 mutations define a subtype of autism early in development. 24998929

2014
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 GeneticVariation 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
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
Entrez Id: 3832
Gene Symbol: KIF11
KIF11
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 CausalMutation 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
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 CausalMutation CLINVAR Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. 23647072

2013
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 GeneticVariation 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
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 GeneticVariation 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
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 GeneticVariation 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
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 CausalMutation CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937

2012