Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9969
Gene Symbol: MED13
MED13 		0.400 Biomarker phenotype GENOMICS_ENGLAND De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. 29740699 2018
Entrez Id: 9969
Gene Symbol: MED13
MED13 		0.400 CausalMutation phenotype CLINVAR
Entrez Id: 29081
Gene Symbol: METTL5
METTL5 		0.300 Biomarker phenotype GENOMICS_ENGLAND Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly. 31564433 2019
Entrez Id: 55074
Gene Symbol: OXR1
OXR1 		0.300 Biomarker phenotype GENOMICS_ENGLAND
Entrez Id: 5455
Gene Symbol: POU3F3
POU3F3 		0.300 Biomarker phenotype GENOMICS_ENGLAND A de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features. 24550763 2014
Entrez Id: 116931
Gene Symbol: MED12L
MED12L 		0.300 Biomarker phenotype GENOMICS_ENGLAND Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. 31155615 2019
Entrez Id: 103
Gene Symbol: ADAR
ADAR 		0.100 Biomarker phenotype HPO
Entrez Id: 10157
Gene Symbol: AASS
AASS 		0.100 Biomarker phenotype HPO
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		0.100 Biomarker phenotype HPO
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		0.100 Biomarker phenotype HPO
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A 		0.100 Biomarker phenotype HPO
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6942
Gene Symbol: TCF20
TCF20 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 54768
Gene Symbol: HYDIN
HYDIN 		0.100 Biomarker phenotype HPO
Entrez Id: 2314
Gene Symbol: FLII
FLII 		0.100 Biomarker phenotype HPO
Entrez Id: 7430
Gene Symbol: EZR
EZR 		0.100 Biomarker phenotype HPO
Entrez Id: 9496
Gene Symbol: TBX4
TBX4 		0.100 Biomarker phenotype HPO
Entrez Id: 10978
Gene Symbol: CLP1
CLP1 		0.100 Biomarker phenotype HPO
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1 		0.100 Biomarker phenotype HPO
Entrez Id: 1748
Gene Symbol: DLX4
DLX4 		0.100 Biomarker phenotype HPO
Entrez Id: 56776
Gene Symbol: FMN2
FMN2 		0.100 Biomarker phenotype HPO
Entrez Id: 132
Gene Symbol: ADK
ADK 		0.100 Biomarker phenotype HPO