Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5881
Gene Symbol: RAC3
RAC3 		0.300 Biomarker phenotype GENOMICS_ENGLAND De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome. 30293988 2019
Entrez Id: 833
Gene Symbol: CARS1
CARS1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails. 30824121 2019
Entrez Id: 10943
Gene Symbol: MSL3
MSL3 		0.300 Biomarker phenotype GENOMICS_ENGLAND De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. 30224647 2018
Entrez Id: 50801
Gene Symbol: KCNK4
KCNK4 		0.300 Biomarker phenotype GENOMICS_ENGLAND Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome. 30290154 2018
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		0.300 Biomarker phenotype GENOMICS_ENGLAND Small 4p16.3 deletions: Three additional patients and review of the literature. 30244530 2018
Entrez Id: 7067
Gene Symbol: THRA
THRA 		0.300 Biomarker phenotype GENOMICS_ENGLAND Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations. 27144938 2016
Entrez Id: 114803
Gene Symbol: MYSM1
MYSM1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Deubiquitinase MYSM1 Regulates Innate Immunity through Inactivation of TRAF3 and TRAF6 Complexes. 26474655 2015
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		0.100 GeneticVariation phenotype CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.100 Biomarker phenotype HPO
Entrez Id: 10166
Gene Symbol: SLC25A15
SLC25A15 		0.100 Biomarker phenotype HPO
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		0.100 Biomarker phenotype HPO
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A 		0.100 Biomarker phenotype HPO
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		0.100 Biomarker phenotype HPO
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1 		0.100 Biomarker phenotype HPO
Entrez Id: 55628
Gene Symbol: ZNF407
ZNF407 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 57647
Gene Symbol: DHX37
DHX37 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A 		0.100 Biomarker phenotype HPO
Entrez Id: 1738
Gene Symbol: DLD
DLD 		0.100 Biomarker phenotype HPO
Entrez Id: 6657
Gene Symbol: SOX2
SOX2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 51010
Gene Symbol: EXOSC3
EXOSC3 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 84153
Gene Symbol: RNASEH2C
RNASEH2C 		0.100 GeneticVariation phenotype CLINVAR