Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 7273
Gene Symbol: TTN
TTN 		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: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		0.100 GeneticVariation phenotype CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 56052
Gene Symbol: ALG1
ALG1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		0.100 Biomarker phenotype HPO
Entrez Id: 6628
Gene Symbol: SNRPB
SNRPB 		0.100 Biomarker phenotype HPO
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.100 Biomarker phenotype HPO
Entrez Id: 55906
Gene Symbol: ZC4H2
ZC4H2 		0.100 Biomarker phenotype HPO
Entrez Id: 8292
Gene Symbol: COLQ
COLQ 		0.100 Biomarker phenotype HPO
Entrez Id: 8818
Gene Symbol: DPM2
DPM2 		0.100 Biomarker phenotype HPO
Entrez Id: 5339
Gene Symbol: PLEC
PLEC 		0.100 Biomarker phenotype HPO
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2 		0.100 Biomarker phenotype HPO
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		0.100 Biomarker phenotype HPO