Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2627
Gene Symbol: GATA6
GATA6 		0.100 CausalMutation phenotype CLINVAR
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: 339400
Gene Symbol: FLG-AS1
FLG-AS1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		0.100 GeneticVariation phenotype CLINVAR
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: 2312
Gene Symbol: FLG
FLG 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		0.100 GeneticVariation phenotype CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 55670
Gene Symbol: PEX26
PEX26 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 153241
Gene Symbol: CEP120
CEP120 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		0.100 CausalMutation phenotype CLINVAR
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: 9394
Gene Symbol: HS6ST1
HS6ST1 		0.100 Biomarker phenotype HPO
Entrez Id: 2796
Gene Symbol: GNRH1
GNRH1 		0.100 Biomarker phenotype HPO
Entrez Id: 10087
Gene Symbol: CERT1
CERT1 		0.100 Biomarker phenotype HPO
Entrez Id: 128674
Gene Symbol: PROKR2
PROKR2 		0.100 Biomarker phenotype HPO
Entrez Id: 81848
Gene Symbol: SPRY4
SPRY4 		0.100 Biomarker phenotype HPO