Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance. 28881385

2018
Entrez Id: 1457
Gene Symbol: CSNK2A1
CSNK2A1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion. 29240241

2018
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability. 28866611

2018
Entrez Id: 6942
Gene Symbol: TCF20
TCF20
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4. 28807867

2017
Entrez Id: 1457
Gene Symbol: CSNK2A1
CSNK2A1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. 28373276

2017
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR Three families with mild PMM2-CDG and normal cognitive development. 28425223

2017
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4. 28807867

2017
Entrez Id: 6942
Gene Symbol: TCF20
TCF20
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth. 27436265

2016
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency. 26419326

2016
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Mutations in HECW2 are associated with intellectual disability and epilepsy. 27334371

2016
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression. 27375234

2016
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family. 26364997

2016
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency. 26419326

2016
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation 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: 1457
Gene Symbol: CSNK2A1
CSNK2A1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. 27048600

2016
Entrez Id: 6942
Gene Symbol: TCF20
TCF20
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation 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 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. 26805780

2016
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families. 27038415

2016