Source: CURATED ×
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