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: 2475
Gene Symbol: MTOR
MTOR
0.100 CausalMutation phenotype CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Entrez Id: 285175
Gene Symbol: UNC80
UNC80
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
0.100 Biomarker phenotype HPO
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
0.100 Biomarker phenotype HPO
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
0.100 Biomarker phenotype HPO
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.100 Biomarker phenotype HPO
Entrez Id: 6942
Gene Symbol: TCF20
TCF20
0.100 Biomarker phenotype HPO
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
0.100 Biomarker phenotype HPO
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
0.100 Biomarker phenotype HPO
Entrez Id: 7703
Gene Symbol: PCGF2
PCGF2
0.100 Biomarker phenotype HPO
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
0.100 Biomarker phenotype HPO
Entrez Id: 9326
Gene Symbol: ZNHIT3
ZNHIT3
0.100 Biomarker phenotype HPO
Entrez Id: 7025
Gene Symbol: NR2F1
NR2F1
0.100 Biomarker phenotype HPO
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
0.100 Biomarker phenotype HPO
Entrez Id: 27292
Gene Symbol: DIMT1
DIMT1
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 9244
Gene Symbol: CRLF1
CRLF1
0.100 Biomarker phenotype HPO
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.100 Biomarker phenotype HPO
Entrez Id: 170302
Gene Symbol: ARX
ARX
0.100 Biomarker phenotype HPO
Entrez Id: 7140
Gene Symbol: TNNT3
TNNT3
0.100 Biomarker phenotype HPO
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
0.100 Biomarker phenotype HPO
Entrez Id: 63035
Gene Symbol: BCORL1
BCORL1
0.100 Biomarker phenotype HPO
Entrez Id: 81887
Gene Symbol: LAS1L
LAS1L
0.100 Biomarker phenotype HPO
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11
0.100 Biomarker phenotype HPO
Entrez Id: 3636
Gene Symbol: INPPL1
INPPL1
0.100 Biomarker phenotype HPO