Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5515
Gene Symbol: PPP2CA
PPP2CA 		0.400 Biomarker phenotype GENOMICS_ENGLAND De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders. 30595372 2019
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1 		0.400 GeneticVariation phenotype CLINVAR ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. 30639322 2019
Entrez Id: 51227
Gene Symbol: PIGP
PIGP 		0.400 Biomarker phenotype GENOMICS_ENGLAND Biallelic mutations in PIGP cause developmental and epileptic encephalopathy. 31139695 2019
Entrez Id: 197258
Gene Symbol: FCSK
FCSK 		0.400 Biomarker phenotype GENOMICS_ENGLAND Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. 30503518 2018
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1 		0.400 Biomarker phenotype GENOMICS_ENGLAND Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. 27479843 2016
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1 		0.400 Biomarker phenotype 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: 197258
Gene Symbol: FCSK
FCSK 		0.400 Biomarker phenotype HPO
Entrez Id: 51227
Gene Symbol: PIGP
PIGP 		0.400 Biomarker phenotype HPO
Entrez Id: 5515
Gene Symbol: PPP2CA
PPP2CA 		0.400 Biomarker phenotype HPO
Entrez Id: 7360
Gene Symbol: UGP2
UGP2 		0.300 Biomarker phenotype GENOMICS_ENGLAND Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. 31820119 2020
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4 		0.300 Biomarker phenotype GENOMICS_ENGLAND Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. 31794024 2020
Entrez Id: 84148
Gene Symbol: KAT8
KAT8 		0.300 Biomarker phenotype GENOMICS_ENGLAND Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability. 31794431 2020
Entrez Id: 2806
Gene Symbol: GOT2
GOT2 		0.300 Biomarker phenotype GENOMICS_ENGLAND Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy. 31422819 2019
Entrez Id: 1024
Gene Symbol: CDK8
CDK8 		0.300 Biomarker phenotype GENOMICS_ENGLAND De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. 30905399 2019
Entrez Id: 5430
Gene Symbol: POLR2A
POLR2A 		0.300 Biomarker phenotype GENOMICS_ENGLAND De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. 31353023 2019
Entrez Id: 11342
Gene Symbol: RNF13
RNF13 		0.300 Biomarker phenotype GENOMICS_ENGLAND Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive. 30595371 2019
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		0.300 Biomarker phenotype GENOMICS_ENGLAND De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome. 30827498 2019
Entrez Id: 6602
Gene Symbol: SMARCD1
SMARCD1 		0.300 Biomarker phenotype GENOMICS_ENGLAND A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies. 30879640 2019
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6 		0.300 Biomarker phenotype GENOMICS_ENGLAND Biotin and pantothenic acid oversupplementation to conditional SLC5A6 KO mice prevents the development of intestinal mucosal abnormalities and growth defects. 29669219 2018
Entrez Id: 23036
Gene Symbol: ZNF292
ZNF292 		0.300 Biomarker phenotype GENOMICS_ENGLAND The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports. 29904178 2018
Entrez Id: 10943
Gene Symbol: MSL3
MSL3 		0.300 Biomarker phenotype GENOMICS_ENGLAND De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. 30224647 2018
Entrez Id: 5917
Gene Symbol: RARS1
RARS1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Mutations in RARS cause hypomyelination. 24777941 2014
Entrez Id: 4330
Gene Symbol: MN1
MN1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Targeted disruption of the Mn1 oncogene results in severe defects in development of membranous bones of the cranial skeleton. 15870292 2005
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D 		0.100 CausalMutation phenotype CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781 2018
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		0.100 CausalMutation phenotype CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017