Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79090
Gene Symbol: TRAPPC6A
TRAPPC6A 		0.310 GeneticVariation disease BEFREE A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features. 29391579 2018
Entrez Id: 9968
Gene Symbol: MED12
MED12 		0.120 GeneticVariation disease CLINVAR Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. 24039113 2013
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 GeneticVariation disease BEFREE Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease. 29096607 2017
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 GeneticVariation disease BEFREE A homozygous mutation in PIGN, a member of genes involved in the GPI anchor-synthesis pathway, was previously reported to cause dysmorphic features, multiple congenital anomalies, severe neurological impairment, and seizure in a consanguineous family. 24253414 2014
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 GeneticVariation disease CLINVAR A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency. 26419326 2016
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		0.120 GeneticVariation disease CLINVAR Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. 18627065 2008
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR Mutations in HECW2 are associated with intellectual disability and epilepsy. 27334371 2016
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression. 27375234 2016
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance. 28881385 2018
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 GeneticVariation disease CLINVAR The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review. 25920937 2015
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR The SET-domain protein superfamily: protein lysine methyltransferases. 16086857 2005
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937 2012
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR The control of histone lysine methylation in epigenetic regulation. 16919862 2007
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		0.120 GeneticVariation disease CLINVAR Development, cognition, and behaviour in Pitt-Hopkins syndrome. 22712893 2012
Entrez Id: 1457
Gene Symbol: CSNK2A1
CSNK2A1 		0.120 GeneticVariation disease CLINVAR Presynaptic CK2 promotes synapse organization and stability by targeting Ankyrin2. 24395637 2014
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR Genome-wide atlas of gene expression in the adult mouse brain. 17151600 2007
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3-p26.1. 21082655 2010
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR Deletion of 3p25.3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region. 23613140 2013
Entrez Id: 1457
Gene Symbol: CSNK2A1
CSNK2A1 		0.120 GeneticVariation disease BEFREE We have performed WES for 4102 (1847 female; 2255 male) intellectual disability/developmental delay cases and we report five patients with a neurodevelopmental disorder associated with developmental delay, intellectual disability, behavioral problems, hypotonia, speech problems, microcephaly, pachygyria and dysmorphic features in whom we have identified de novo missense and canonical splice site mutations in CSNK2A1, the gene encoding CK2α, the catalytic subunit of protein kinase CK2, a ubiquitous serine/threonine kinase composed of two regulatory (β) and two catalytic (α and/or α') subunits. 27048600 2016
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		0.120 GeneticVariation disease CLINVAR Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. 19235238 2009
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR Like a rolling histone: epigenetic regulation of neural stem cells and brain development by factors controlling histone acetylation and methylation. 22986149 2013
Entrez Id: 1457
Gene Symbol: CSNK2A1
CSNK2A1 		0.120 GeneticVariation disease CLINVAR Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion. 29240241 2018
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		0.120 GeneticVariation disease CLINVAR Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. 22335494 2013
Entrez Id: 9968
Gene Symbol: MED12
MED12 		0.120 GeneticVariation disease CLINVAR Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)]. 26273451 2015
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		0.120 GeneticVariation disease CLINVAR Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations. 19938247 2009