Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		0.420 GeneticVariation disease BEFREE Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans. 28087732 2017
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		0.420 GeneticVariation disease BEFREE COL4A1 mutations disrupt the integrity of vascular basement membranes, so predisposing to a broad spectrum of disorders including periventricular leucomalacia, haemorrhagic stroke, aneurysm formation, epilepsy and developmental delay. 24864020 2014
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		0.420 Biomarker disease HPO
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		0.420 Biomarker disease GENOMICS_ENGLAND Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans. 28087732 2017
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		0.420 CausalMutation disease CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799 2016
Entrez Id: 10735
Gene Symbol: STAG2
STAG2 		0.420 Biomarker disease GENOMICS_ENGLAND Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability. 25450604 2015
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		0.420 GeneticVariation disease CLINVAR
Entrez Id: 10735
Gene Symbol: STAG2
STAG2 		0.420 GeneticVariation disease BEFREE De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies. 28296084 2017
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		0.420 GeneticVariation disease BEFREE A 4-year-old girl was COL4A1 mutation-positive and suffered from drug-resistant epilepsy, hemiplegia, and developmental delay. 27916450 2017
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		0.420 GeneticVariation disease CLINVAR
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		0.420 Biomarker disease HPO
Entrez Id: 10735
Gene Symbol: STAG2
STAG2 		0.420 GeneticVariation disease BEFREE To date, only 10 STAG2 pathogenic variants (four nonsense, four missense, and two frameshift) have been reported in patients with multiple congenital anomalies, ID, and DD. 30765867 2019
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		0.420 GeneticVariation disease BEFREE Mutations in SZT2 have been reported in very few patients and features range from mild to moderate intellectual disability without seizures to severe intellectual disability with epileptic encephalopathies with severe developmental delay. 30359774 2019
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		0.410 Biomarker disease GENOMICS_ENGLAND To distinguish this subset of affected individuals from the DRPLA diagnosis, we suggest using the term CHEDDA (congenital hypotonia, epilepsy, developmental delay, digit abnormalities) to classify the condition. 30827498 2019
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2 		0.410 Biomarker disease HPO
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		0.410 GeneticVariation disease BEFREE Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2 		0.410 GeneticVariation disease BEFREE Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. 30580808 2019
Entrez Id: 6659
Gene Symbol: SOX4
SOX4 		0.410 GeneticVariation disease BEFREE Using trio-based exome sequencing, we here identify de novo SOX4 heterozygous missense variants in four children who share developmental delay, intellectual disability, and mild facial and digital morphological abnormalities. 30661772 2019
Entrez Id: 23028
Gene Symbol: KDM1A
KDM1A 		0.410 Biomarker disease HPO
Entrez Id: 10297
Gene Symbol: APC2
APC2 		0.410 Biomarker disease GENOMICS_ENGLAND Directional neuronal migration is impaired in mice lacking adenomatous polyposis coli 2. 22573669 2012
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E 		0.410 GeneticVariation disease CLINVAR
Entrez Id: 5515
Gene Symbol: PPP2CA
PPP2CA 		0.410 Biomarker disease HPO
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		0.410 Biomarker disease HPO
Entrez Id: 5515
Gene Symbol: PPP2CA
PPP2CA 		0.410 Biomarker disease GENOMICS_ENGLAND We now report 16 individuals with mild to profound ID and DD and a de novo mutation in PPP2CA, encoding the catalytic Cα subunit. 30595372 2019
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C 		0.410 Biomarker disease GENOMICS_ENGLAND Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. 18697827 2008