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 Biomarker disease GENOMICS_ENGLAND 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: 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: 7703
Gene Symbol: PCGF2
PCGF2 		0.300 Biomarker disease GENOMICS_ENGLAND Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. 30343942 2018
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.120 CausalMutation disease CLINVAR Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation. 24498599 2013
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 CausalMutation disease CLINVAR The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review. 25920937 2015
Entrez Id: 6942
Gene Symbol: TCF20
TCF20 		0.120 CausalMutation disease CLINVAR De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth. 27436265 2016
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		0.120 CausalMutation disease CLINVAR Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. 18728071 2008
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: 5373
Gene Symbol: PMM2
PMM2 		0.120 CausalMutation disease CLINVAR Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia). 10854097 2000
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: 5373
Gene Symbol: PMM2
PMM2 		0.120 CausalMutation disease CLINVAR Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling. 11343337 2001
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.120 CausalMutation disease CLINVAR Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2. 26488408 2015
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: 6925
Gene Symbol: TCF4
TCF4 		0.120 CausalMutation disease CLINVAR Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. 17436254 2007
Entrez Id: 1457
Gene Symbol: CSNK2A1
CSNK2A1 		0.120 Biomarker disease BEFREE Taking into account that mutations in CSNK2A1, encoding the α subunit of CK2, were previously identified in patients with neurodevelopmental disorders and dysmorphic features, our study confirmed that the protein kinase CK2 plays a major role in brain, and showed that CSNK2, encoding the β subunit, is a novel ID gene. 28585349 2017
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: 6925
Gene Symbol: TCF4
TCF4 		0.120 CausalMutation disease CLINVAR Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. 22045651 2012
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: 23556
Gene Symbol: PIGN
PIGN 		0.120 CausalMutation disease CLINVAR Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress. 18635593 2008
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR The SET-domain protein superfamily: protein lysine methyltransferases. 16086857 2005
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.120 Biomarker disease BEFREE From gestalt to gene: early predictive dysmorphic features of PMM2-CDG. 30464053 2019