Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		0.440 Biomarker disease GENOMICS_ENGLAND Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain. 28636205 2017
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.440 Biomarker disease GENOMICS_ENGLAND A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia. 27725288 2016
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R 		0.420 Biomarker disease GENOMICS_ENGLAND Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations. 23045302 2013
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		0.420 Biomarker disease GENOMICS_ENGLAND An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability. 24324832 2013
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		0.420 Biomarker disease GENOMICS_ENGLAND Clinical and brain MRI follow-up study of a family with COL4A1 mutation. 17938367 2007
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: 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: 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: 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: 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
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C 		0.410 Biomarker disease GENOMICS_ENGLAND Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 2016
Entrez Id: 23028
Gene Symbol: KDM1A
KDM1A 		0.410 Biomarker disease GENOMICS_ENGLAND De novo variants in KDM1A underlie a new syndrome characterized by developmental delay and distinctive facial features. 26656649 2016
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E 		0.410 Biomarker disease GENOMICS_ENGLAND The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. 31079897 2019
Entrez Id: 84231
Gene Symbol: TRAF7
TRAF7 		0.410 Biomarker disease GENOMICS_ENGLAND Excess of rare, inherited truncating mutations in autism. 25961944 2015
Entrez Id: 6942
Gene Symbol: TCF20
TCF20 		0.410 Biomarker disease GENOMICS_ENGLAND Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability. 30525188 2019
Entrez Id: 6659
Gene Symbol: SOX4
SOX4 		0.410 Biomarker disease GENOMICS_ENGLAND 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: 51412
Gene Symbol: ACTL6B
ACTL6B 		0.410 Biomarker disease GENOMICS_ENGLAND Autozygome and high throughput confirmation of disease genes candidacy. 30237576 2019
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2 		0.410 Biomarker disease GENOMICS_ENGLAND 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: 57178
Gene Symbol: ZMIZ1
ZMIZ1 		0.410 Biomarker disease GENOMICS_ENGLAND A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations. 26163108 2015
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1 		0.410 Biomarker disease GENOMICS_ENGLAND Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. 27479843 2016
Entrez Id: 5879
Gene Symbol: RAC1
RAC1 		0.410 Biomarker disease GENOMICS_ENGLAND We report seven individuals with distinct de novo missense RAC1 mutations and varying degrees of developmental delay, brain malformations, and additional phenotypes. 28886345 2017
Entrez Id: 7701
Gene Symbol: ZNF142
ZNF142 		0.400 Biomarker disease GENOMICS_ENGLAND Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. 31036918 2019
Entrez Id: 8560
Gene Symbol: DEGS1
DEGS1 		0.400 Biomarker disease GENOMICS_ENGLAND DEGS1 variant causes neurological disorder. 31186544 2019
Entrez Id: 55621
Gene Symbol: TRMT1
TRMT1 		0.400 Biomarker disease GENOMICS_ENGLAND TRMT1-Catalyzed tRNA Modifications Are Required for Redox Homeostasis To Ensure Proper Cellular Proliferation and Oxidative Stress Survival. 28784718 2017