Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2
0.100 GeneticVariation disease CLINVAR
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
0.100 GeneticVariation disease CLINVAR
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.100 GeneticVariation disease CLINVAR
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.100 GeneticVariation disease CLINVAR
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
0.100 GeneticVariation disease CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
0.100 GeneticVariation disease CLINVAR
Entrez Id: 79770
Gene Symbol: TXNDC15
TXNDC15
0.100 GeneticVariation disease CLINVAR
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
0.100 GeneticVariation disease CLINVAR
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
0.100 GeneticVariation disease CLINVAR
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.100 GeneticVariation disease CLINVAR
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
0.100 GeneticVariation disease CLINVAR
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
0.100 GeneticVariation disease CLINVAR
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
0.100 GeneticVariation disease CLINVAR
Entrez Id: 9990
Gene Symbol: SLC12A6
SLC12A6
0.100 GeneticVariation disease CLINVAR
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.100 GeneticVariation disease CLINVAR
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
0.100 GeneticVariation disease CLINVAR
Entrez Id: 7703
Gene Symbol: PCGF2
PCGF2
0.100 GeneticVariation disease CLINVAR
Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1
0.100 GeneticVariation disease CLINVAR
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
0.100 GeneticVariation disease CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
0.100 GeneticVariation disease CLINVAR
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
0.100 GeneticVariation disease CLINVAR
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.100 GeneticVariation disease CLINVAR
Entrez Id: 2121
Gene Symbol: EVC
EVC
0.100 GeneticVariation disease CLINVAR
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
0.100 GeneticVariation disease CLINVAR
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
0.100 GeneticVariation disease CLINVAR