Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 116931
Gene Symbol: MED12L
MED12L
0.300 Biomarker disease 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: 9969
Gene Symbol: MED13
MED13
0.300 Biomarker disease GENOMICS_ENGLAND De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. 29740699 2018
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
0.110 Biomarker disease BEFREE MEF2C-related epilepsy has been poorly described in the literature, despite a consistent MEF2C haploinsufficiency phenotype characterized by severe language impairment and motor delay (MIM# 613443). 30922778 2019
Entrez Id: 203068
Gene Symbol: TUBB
TUBB
0.110 GeneticVariation disease BEFREE We have previously reported that mutations in TUBB5 cause microcephaly that is accompanied by severe intellectual impairment and motor delay. 28130172 2017
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
0.110 GeneticVariation disease BEFREE We have previously reported that mutations in TUBB5 cause microcephaly that is accompanied by severe intellectual impairment and motor delay. 28130172 2017
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.110 Biomarker disease BEFREE This is a case of global motor delay and erythromelalgia associated with SCN9A. 23893323 2014
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.110 GeneticVariation disease BEFREE ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia. 22924536 2012
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
0.110 Biomarker disease HPO
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.110 Biomarker disease HPO
Entrez Id: 203068
Gene Symbol: TUBB
TUBB
0.110 Biomarker disease HPO
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
0.110 Biomarker disease HPO
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.110 Biomarker disease HPO
Entrez Id: 10367
Gene Symbol: MICU1
MICU1
0.100 Biomarker disease HPO
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.100 Biomarker disease HPO
Entrez Id: 55750
Gene Symbol: AGK
AGK
0.100 Biomarker disease HPO
Entrez Id: 3070
Gene Symbol: HELLS
HELLS
0.100 Biomarker disease HPO
Entrez Id: 10290
Gene Symbol: SPEG
SPEG
0.100 Biomarker disease HPO
Entrez Id: 8898
Gene Symbol: MTMR2
MTMR2
0.100 Biomarker disease HPO
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12
0.100 Biomarker disease HPO
Entrez Id: 131377
Gene Symbol: KLHL40
KLHL40
0.100 Biomarker disease HPO
Entrez Id: 4570
Gene Symbol: TRNN
TRNN
0.100 Biomarker disease HPO
Entrez Id: 9581
Gene Symbol: PREPL
PREPL
0.100 Biomarker disease HPO
Entrez Id: 191
Gene Symbol: AHCY
AHCY
0.100 Biomarker disease HPO
Entrez Id: 54862
Gene Symbol: CC2D1A
CC2D1A
0.100 Biomarker disease HPO
Entrez Id: 3653
Gene Symbol: IPW
IPW
0.100 Biomarker disease HPO