Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25
Gene Symbol: ABL1
ABL1
0.100 CausalMutation phenotype CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
0.100 Biomarker phenotype HPO
Entrez Id: 715
Gene Symbol: C1R
C1R
0.100 Biomarker phenotype HPO
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
0.100 Biomarker phenotype HPO
Entrez Id: 5624
Gene Symbol: PROC
PROC
0.100 Biomarker phenotype HPO
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
0.100 Biomarker phenotype HPO
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
0.100 Biomarker phenotype HPO
Entrez Id: 160418
Gene Symbol: TMTC3
TMTC3
0.100 Biomarker phenotype HPO
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
0.100 Biomarker phenotype HPO
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
0.100 Biomarker phenotype HPO
Entrez Id: 9049
Gene Symbol: AIP
AIP
0.100 Biomarker phenotype HPO
Entrez Id: 91252
Gene Symbol: SLC39A13
SLC39A13
0.100 Biomarker phenotype HPO
Entrez Id: 1896
Gene Symbol: EDA
EDA
0.100 Biomarker phenotype HPO
Entrez Id: 5498
Gene Symbol: PPOX
PPOX
0.100 Biomarker phenotype HPO
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
0.100 Biomarker phenotype HPO
Entrez Id: 5468
Gene Symbol: PPARG
PPARG
0.100 Biomarker phenotype HPO
Entrez Id: 80169
Gene Symbol: CTC1
CTC1
0.100 Biomarker phenotype HPO
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB
0.100 Biomarker phenotype HPO
Entrez Id: 3977
Gene Symbol: LIFR
LIFR
0.100 Biomarker phenotype HPO
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
0.100 Biomarker phenotype HPO
Entrez Id: 7148
Gene Symbol: TNXB
TNXB
0.100 Biomarker phenotype HPO
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10
0.100 Biomarker phenotype HPO
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
0.100 Biomarker phenotype HPO
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2
0.100 Biomarker phenotype HPO
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1
0.100 Biomarker phenotype HPO