Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		0.100 GeneticVariation phenotype CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
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: 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: 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: 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
Entrez Id: 55697
Gene Symbol: VAC14
VAC14 		0.100 Biomarker phenotype HPO
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 Biomarker phenotype HPO
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 Biomarker phenotype HPO
Entrez Id: 7476
Gene Symbol: WNT7A
WNT7A 		0.100 Biomarker phenotype HPO
Entrez Id: 6611
Gene Symbol: SMS
SMS 		0.100 Biomarker phenotype HPO
Entrez Id: 51053
Gene Symbol: GMNN
GMNN 		0.100 Biomarker phenotype HPO
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.100 Biomarker phenotype HPO
Entrez Id: 10020
Gene Symbol: GNE
GNE 		0.100 Biomarker phenotype HPO
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		0.100 Biomarker phenotype HPO
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3 		0.100 Biomarker phenotype HPO
Entrez Id: 2719
Gene Symbol: GPC3
GPC3 		0.100 Biomarker phenotype HPO
Entrez Id: 136647
Gene Symbol: MPLKIP
MPLKIP 		0.100 Biomarker phenotype HPO
Entrez Id: 129563
Gene Symbol: DIS3L2
DIS3L2 		0.100 Biomarker phenotype HPO
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		0.100 GeneticVariation phenotype CLINVAR