Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		0.110 CausalMutation phenotype CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689 2016
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2 		0.100 GeneticVariation phenotype CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		0.100 CausalMutation phenotype CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		0.100 GeneticVariation phenotype CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		0.100 GeneticVariation phenotype CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898 2017
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.100 CausalMutation phenotype CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Entrez Id: 2892
Gene Symbol: GRIA3
GRIA3 		0.100 GeneticVariation phenotype CLINVAR A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability. 29016847 2017
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		0.100 CausalMutation phenotype CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 134728
Gene Symbol: IRAK1BP1
IRAK1BP1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 63979
Gene Symbol: FIGNL1
FIGNL1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 22907
Gene Symbol: DHX30
DHX30 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6448
Gene Symbol: SGSH
SGSH 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 7874
Gene Symbol: USP7
USP7 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1644
Gene Symbol: DDC
DDC 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2 		0.100 CausalMutation phenotype CLINVAR