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: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.100 CausalMutation phenotype CLINVAR A Case of KCNQ2-Associated Movement Disorder Triggered by Fever. 29129156 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: 3192
Gene Symbol: HNRNPU
HNRNPU 		0.100 GeneticVariation phenotype CLINVAR De novo mutations in HNRNPU result in a neurodevelopmental syndrome. 28944577 2017
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: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype CLINVAR The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. 28941052 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: 11152
Gene Symbol: WDR45
WDR45 		0.100 CausalMutation phenotype CLINVAR Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report. 28932395 2017
Entrez Id: 7204
Gene Symbol: TRIO
TRIO 		0.100 CausalMutation phenotype CLINVAR An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio. 28928363 2017
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.100 CausalMutation phenotype CLINVAR FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome. 28901406 2017
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		0.100 CausalMutation phenotype CLINVAR Congenital heart defects in molecularly proven Kabuki syndrome patients. 28884922 2017
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		0.100 CausalMutation phenotype CLINVAR Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. 28884889 2017
Entrez Id: 55750
Gene Symbol: AGK
AGK 		0.100 CausalMutation phenotype CLINVAR Mutation in the AGK gene in two siblings with unusual Sengers syndrome. 28868593 2017
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B 		0.100 CausalMutation phenotype CLINVAR A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy. 28817236 2017
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU 		0.100 GeneticVariation phenotype CLINVAR Clinical and molecular characterization of de novo loss of function variants in HNRNPU. 28815871 2017
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2 		0.100 GeneticVariation phenotype CLINVAR An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2. 28811059 2017
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype CLINVAR Exome sequencing reveals DNMT3A and ASXL1 variants associate with progression of chronic myeloid leukemia after tyrosine kinase inhibitor therapy. 28667884 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: 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: 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: 57680
Gene Symbol: CHD8
CHD8 		0.100 CausalMutation phenotype 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 		0.100 GeneticVariation phenotype CLINVAR Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes. 28588821 2017