Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857

2017
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. 28884889

2017
Entrez Id: 340533
Gene Symbol: NEXMIF
NEXMIF
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females. 27568816

2017
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR UniProt: the universal protein knowledgebase. 27899622

2017
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. 28941052

2017
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS). 27426476

2017
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Mapping Coaches' Views of Participation in CrossFit to the Integrated Theory of Health Behavior Change and Sense of Community. 27870750

2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant. 27861786

2017
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Mapping Coaches' Views of Participation in CrossFit to the Integrated Theory of Health Behavior Change and Sense of Community. 27870750

2017
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention. 28384794

2017
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. 28600779

2017
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. 28371282

2017
Entrez Id: 55750
Gene Symbol: AGK
AGK
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Mutation in the AGK gene in two siblings with unusual Sengers syndrome. 28868593

2017
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327

2017
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes. 28588821

2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR A Case of KCNQ2-Associated Movement Disorder Triggered by Fever. 29129156

2017
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Clinical and molecular characterization of de novo loss of function variants in HNRNPU. 28815871

2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671

2017
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy. 28817236

2017
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2. 28811059

2017
Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome. 28371199

2017
Entrez Id: 26137
Gene Symbol: ZBTB20
ZBTB20
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome. 28462983

2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094

2017
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR De novo mutations in HNRNPU result in a neurodevelopmental syndrome. 28944577

2017
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847

2017