Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6659
Gene Symbol: SOX4
SOX4 		0.400 GeneticVariation disease CLINVAR De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772 2019
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1 		0.100 GeneticVariation disease CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Entrez Id: 5888
Gene Symbol: RAD51
RAD51 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 9990
Gene Symbol: SLC12A6
SLC12A6 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.100 GeneticVariation disease CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Entrez Id: 22880
Gene Symbol: MORC2
MORC2 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 GeneticVariation disease CLINVAR
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: 26137
Gene Symbol: ZBTB20
ZBTB20 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 6659
Gene Symbol: SOX4
SOX4 		0.400 Biomarker disease GENOMICS_ENGLAND De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772 2019
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1 		0.100 Biomarker disease HPO
Entrez Id: 54476
Gene Symbol: RNF216
RNF216 		0.100 Biomarker disease HPO
Entrez Id: 7474
Gene Symbol: WNT5A
WNT5A 		0.100 Biomarker disease HPO
Entrez Id: 22808
Gene Symbol: MRAS
MRAS 		0.100 Biomarker disease HPO
Entrez Id: 4920
Gene Symbol: ROR2
ROR2 		0.100 Biomarker disease HPO
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.100 Biomarker disease HPO
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		0.100 Biomarker disease HPO
Entrez Id: 10733
Gene Symbol: PLK4
PLK4 		0.100 Biomarker disease HPO