Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 57680
Gene Symbol: CHD8
CHD8 		0.100 CausalMutation phenotype CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857 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: 340533
Gene Symbol: NEXMIF
NEXMIF 		0.100 CausalMutation phenotype 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 		0.100 GeneticVariation phenotype CLINVAR UniProt: the universal protein knowledgebase. 27899622 2017
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: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.100 CausalMutation phenotype CLINVAR CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS). 27426476 2017
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.100 CausalMutation phenotype 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 		0.100 CausalMutation phenotype 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 		0.100 GeneticVariation phenotype 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 		0.100 CausalMutation phenotype 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 		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 MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. 28371282 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: 4297
Gene Symbol: KMT2A
KMT2A 		0.100 CausalMutation phenotype CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327 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
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: 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: 10522
Gene Symbol: DEAF1
DEAF1 		0.100 CausalMutation phenotype CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671 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: 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: 8929
Gene Symbol: PHOX2B
PHOX2B 		0.100 GeneticVariation phenotype 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 		0.100 GeneticVariation phenotype 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 		0.100 GeneticVariation phenotype CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094 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