Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9968
Gene Symbol: MED12
MED12 		0.120 Biomarker disease BEFREE He has mild to moderate intellectual disability and some dysmorphic features seen in MED12-related syndromes. 27286923 2016
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: 1457
Gene Symbol: CSNK2A1
CSNK2A1 		0.120 GeneticVariation disease CLINVAR De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. 27048600 2016
Entrez Id: 6942
Gene Symbol: TCF20
TCF20 		0.120 CausalMutation disease CLINVAR Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. 27479843 2016
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		0.120 CausalMutation disease CLINVAR Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system. 27072915 2016
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 CausalMutation disease CLINVAR Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. 26394714 2016
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		0.120 AlteredExpression disease BEFREE Although validation in additional patients is required, our findings suggest that the dysmorphic features and severe intellectual disability characteristic of PTHS are partially rescued by overexpression of those short TCF4 transcripts encoding a nuclear localization signal, a transcription activation domain, and the basic helix-loop-helix domain. 27179618 2016
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 GeneticVariation disease CLINVAR Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes. 26879448 2016
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.120 CausalMutation disease CLINVAR Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. 26805780 2016
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders. 26482601 2016
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 GeneticVariation disease CLINVAR Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. 26394714 2016
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 GeneticVariation disease CLINVAR Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families. 27038415 2016
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 GeneticVariation disease CLINVAR A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family. 26364997 2016
Entrez Id: 9968
Gene Symbol: MED12
MED12 		0.120 GeneticVariation disease CLINVAR X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 25644381 2016
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease BEFREE We present the first familial case of a SETD5 mutation contributing to a phenotype of congenital heart defects and dysmorphic features, with variable expression, in two siblings and their father. 27375234 2016
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		0.120 GeneticVariation disease CLINVAR Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system. 27072915 2016
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 CausalMutation disease CLINVAR Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families. 27038415 2016
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: 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: 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: 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 CausalMutation disease CLINVAR Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis. 26087656 2015
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.120 CausalMutation disease CLINVAR The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein. 26014514 2015
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		0.120 GeneticVariation disease CLINVAR Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis. 26087656 2015
Entrez Id: 6942
Gene Symbol: TCF20
TCF20 		0.120 CausalMutation disease CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015