Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23512
Gene Symbol: SUZ12
SUZ12 		0.300 Biomarker phenotype GENOMICS_ENGLAND PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes. 31724824 2019
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.100 GeneticVariation phenotype CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987 2018
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.100 CausalMutation phenotype CLINVAR Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth. 28941273 2018
Entrez Id: 894
Gene Symbol: CCND2
CCND2 		0.100 GeneticVariation phenotype CLINVAR Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth. 28941273 2018
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.100 GeneticVariation phenotype CLINVAR Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth. 28941273 2018
Entrez Id: 627
Gene Symbol: BDNF
BDNF 		0.100 GeneticVariation phenotype 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 		0.100 GeneticVariation phenotype 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 		0.100 CausalMutation phenotype 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 		0.100 GeneticVariation phenotype CLINVAR Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. 28575650 2017
Entrez Id: 1106
Gene Symbol: CHD2
CHD2 		0.100 GeneticVariation phenotype CLINVAR Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant. 28960266 2017
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		0.100 CausalMutation phenotype CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		0.100 CausalMutation phenotype 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 		0.100 GeneticVariation phenotype 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 		0.100 CausalMutation phenotype CLINVAR A critical role of spinal Shank2 proteins in NMDA-induced pain hypersensitivity. 28326932 2017
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A 		0.100 GeneticVariation phenotype CLINVAR A novel UBE2A mutation causes X-linked intellectual disability type Nascimento. 28611923 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		0.100 CausalMutation phenotype 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 		0.100 CausalMutation phenotype CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909 2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.100 CausalMutation phenotype 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 		0.100 CausalMutation phenotype CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930 2017
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU 		0.100 GeneticVariation phenotype CLINVAR Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. 28393272 2017
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		0.100 CausalMutation phenotype CLINVAR DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. 28371085 2017
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		0.100 CausalMutation phenotype 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 		0.100 GeneticVariation phenotype CLINVAR CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS). 27426476 2017
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.100 GeneticVariation phenotype 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 		0.100 CausalMutation phenotype CLINVAR Pilomatricoma Associated with Kabuki Syndrome. 27778401 2017