Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987

2018

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth. 28941273

2018

Entrez Id: 894
Gene Symbol: CCND2
CCND2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth. 28941273

2018

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth. 28941273

2018

Entrez Id: 627
Gene Symbol: BDNF
BDNF
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. 28397838

2018

Entrez Id: 497258
Gene Symbol: BDNF-AS
BDNF-AS
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. 28397838

2018

Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing. 28386848

2018

Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. 28575650

2017

Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant. 28960266

2017

Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017

Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis. 27939639

2017

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. 27431290

2017

Entrez Id: 22941
Gene Symbol: SHANK2
SHANK2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR A critical role of spinal Shank2 proteins in NMDA-induced pain hypersensitivity. 28326932

2017

Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR A novel UBE2A mutation causes X-linked intellectual disability type Nascimento. 28611923

2017

Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017

Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909

2017

Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures. 28602030

2017

Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930

2017

Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. 28393272

2017

Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. 28371085

2017

Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection. 27991736

2017

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

2017

Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. 28645799

2017

Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Pilomatricoma Associated with Kabuki Syndrome. 27778401

2017

Entrez Id: 7204
Gene Symbol: TRIO
TRIO
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio. 28928363

2017