Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 25644381

2016
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families. 27038415

2016
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review. 25920937

2015
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2. 26488408

2015
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review. 25920937

2015
Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis. 26087656

2015
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis. 26087656

2015
Entrez Id: 6942
Gene Symbol: TCF20
TCF20
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum. 26338144

2015
Entrez Id: 1457
Gene Symbol: CSNK2A1
CSNK2A1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Presynaptic CK2 promotes synapse organization and stability by targeting Ankyrin2. 24395637

2014
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy. 24253414

2014
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy. 24253414

2014
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia. 24852103

2014
Entrez Id: 6942
Gene Symbol: TCF20
TCF20
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder. 25228304

2014
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. 24680889

2014
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia. 24852103

2014
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation 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: 9968
Gene Symbol: MED12
MED12
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. 24039113

2013
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. 22335494

2013
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation 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: 55209
Gene Symbol: SETD5
SETD5
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Like a rolling histone: epigenetic regulation of neural stem cells and brain development by factors controlling histone acetylation and methylation. 22986149

2013