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: 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: 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: 25942
Gene Symbol: SIN3A
SIN3A
0.100 CausalMutation disease CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900 2019
Entrez Id: 5898
Gene Symbol: RALA
RALA
0.100 CausalMutation disease CLINVAR De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. 30500825 2018
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
0.100 CausalMutation disease CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
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: 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: 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: 7994
Gene Symbol: KAT6A
KAT6A
0.100 CausalMutation disease CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777 2015
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
Entrez Id: 9568
Gene Symbol: GABBR2
GABBR2
0.100 Biomarker disease HPO
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
0.100 CausalMutation disease CLINVAR
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
0.100 Biomarker disease HPO
Entrez Id: 2239
Gene Symbol: GPC4
GPC4
0.100 Biomarker disease HPO
Entrez Id: 124583
Gene Symbol: CANT1
CANT1
0.100 Biomarker disease HPO
Entrez Id: 8260
Gene Symbol: NAA10
NAA10
0.100 Biomarker disease HPO
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
0.100 Biomarker disease HPO