Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25
Gene Symbol: ABL1
ABL1 		0.100 CausalMutation disease CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		0.100 GeneticVariation disease CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Entrez Id: 51053
Gene Symbol: GMNN
GMNN 		0.100 CausalMutation disease CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
Entrez Id: 51132
Gene Symbol: RLIM
RLIM 		0.100 Biomarker disease HPO
Entrez Id: 340419
Gene Symbol: RSPO2
RSPO2 		0.100 Biomarker disease HPO
Entrez Id: 7703
Gene Symbol: PCGF2
PCGF2 		0.100 Biomarker disease HPO
Entrez Id: 9723
Gene Symbol: SEMA3E
SEMA3E 		0.100 Biomarker disease HPO
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A 		0.100 Biomarker disease HPO
Entrez Id: 1906
Gene Symbol: EDN1
EDN1 		0.100 Biomarker disease HPO
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		0.100 Biomarker disease HPO
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		0.100 Biomarker disease HPO
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.100 Biomarker disease HPO
Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3 		0.100 Biomarker disease HPO
Entrez Id: 4054
Gene Symbol: LTBP3
LTBP3 		0.100 Biomarker disease HPO
Entrez Id: 29957
Gene Symbol: SLC25A24
SLC25A24 		0.100 Biomarker disease HPO
Entrez Id: 4841
Gene Symbol: NONO
NONO 		0.100 Biomarker disease HPO
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1 		0.100 Biomarker disease HPO
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		0.100 Biomarker disease HPO
Entrez Id: 54928
Gene Symbol: IMPAD1
IMPAD1 		0.100 Biomarker disease HPO
Entrez Id: 5424
Gene Symbol: POLD1
POLD1 		0.100 Biomarker disease HPO
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1 		0.100 Biomarker disease HPO
Entrez Id: 3097
Gene Symbol: HIVEP2
HIVEP2 		0.100 Biomarker disease HPO
Entrez Id: 55644
Gene Symbol: OSGEP
OSGEP 		0.100 Biomarker disease HPO
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.100 Biomarker disease HPO
Entrez Id: 11285
Gene Symbol: B4GALT7
B4GALT7 		0.100 Biomarker disease HPO