Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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: 2627
Gene Symbol: GATA6
GATA6 		0.100 CausalMutation phenotype CLINVAR
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
Entrez Id: 1848
Gene Symbol: DUSP6
DUSP6 		0.100 Biomarker phenotype HPO
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		0.100 Biomarker phenotype HPO
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.100 Biomarker phenotype HPO
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		0.100 Biomarker phenotype HPO
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		0.100 Biomarker phenotype HPO
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT 		0.100 Biomarker phenotype HPO
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1 		0.100 Biomarker phenotype HPO
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		0.100 Biomarker phenotype HPO
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		0.100 Biomarker phenotype HPO
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.100 Biomarker phenotype HPO
Entrez Id: 200205
Gene Symbol: IBA57
IBA57 		0.100 Biomarker phenotype HPO
Entrez Id: 339400
Gene Symbol: FLG-AS1
FLG-AS1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		0.100 Biomarker phenotype HPO
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 9759
Gene Symbol: HDAC4
HDAC4 		0.100 Biomarker phenotype HPO