Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		0.100 GeneticVariation phenotype CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.100 CausalMutation phenotype CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404 2006
Entrez Id: 5888
Gene Symbol: RAD51
RAD51 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		0.100 GeneticVariation phenotype CLINVAR First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy. 9452087 1998
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		0.100 GeneticVariation phenotype CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
Entrez Id: 254863
Gene Symbol: TMEM256
TMEM256 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 100529211
Gene Symbol: TMEM256-PLSCR3
TMEM256-PLSCR3 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.100 CausalMutation phenotype CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621 2006
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 867
Gene Symbol: CBL
CBL 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 23036
Gene Symbol: ZNF292
ZNF292 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1857
Gene Symbol: DVL3
DVL3 		0.100 Biomarker phenotype HPO
Entrez Id: 55764
Gene Symbol: IFT122
IFT122 		0.100 Biomarker phenotype HPO
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1 		0.100 Biomarker phenotype HPO
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C 		0.100 Biomarker phenotype HPO