Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5881
Gene Symbol: RAC3
RAC3 		0.400 GeneticVariation phenotype CLINVAR
Entrez Id: 5881
Gene Symbol: RAC3
RAC3 		0.400 Biomarker phenotype GENOMICS_ENGLAND De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome. 30293988 2019
Entrez Id: 23236
Gene Symbol: PLCB1
PLCB1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2975
Gene Symbol: GTF3C1
GTF3C1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		0.100 CausalMutation phenotype CLINVAR Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 17878207 2007
Entrez Id: 64852
Gene Symbol: TUT1
TUT1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 7436
Gene Symbol: VLDLR
VLDLR 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5917
Gene Symbol: RARS1
RARS1 		0.100 CausalMutation phenotype CLINVAR Mutations in RARS cause hypomyelination. 24777941 2014
Entrez Id: 2581
Gene Symbol: GALC
GALC 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 8558
Gene Symbol: CDK10
CDK10 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24 		0.100 CausalMutation phenotype CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
Entrez Id: 54880
Gene Symbol: BCOR
BCOR 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 84915
Gene Symbol: FAM222A
FAM222A 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4 		0.100 GeneticVariation phenotype CLINVAR Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. 25868664 2015
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23426
Gene Symbol: GRIP1
GRIP1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 54982
Gene Symbol: CLN6
CLN6 		0.100 CausalMutation phenotype CLINVAR CLN6 disease caused by the same mutation originating in Pakistan has varying pathology. 23735787 2013
Entrez Id: 26050
Gene Symbol: SLITRK5
SLITRK5 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 50937
Gene Symbol: CDON
CDON 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 8481
Gene Symbol: OFD1
OFD1 		0.100 CausalMutation phenotype CLINVAR Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. 18546297 2008