Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
0.110 CausalMutation disease CLINVAR
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1
0.110 Biomarker disease HPO
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.110 CausalMutation disease CLINVAR
Entrez Id: 51364
Gene Symbol: ZMYND10
ZMYND10
0.110 Biomarker disease HPO
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
0.110 GeneticVariation disease CLINVAR
Entrez Id: 4015
Gene Symbol: LOX
LOX
0.110 Biomarker disease HPO
Entrez Id: 116150
Gene Symbol: NUS1
NUS1
0.110 Biomarker disease HPO
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.110 CausalMutation disease CLINVAR
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.110 Biomarker disease HPO
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.110 Biomarker disease HPO
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
0.110 Biomarker disease HPO
Entrez Id: 5979
Gene Symbol: RET
RET
0.110 Biomarker disease HPO
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1
0.110 Biomarker disease HPO
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.110 Biomarker disease HPO
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.110 Biomarker disease HPO
Entrez Id: 4617
Gene Symbol: MYF5
MYF5
0.110 Biomarker disease HPO
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.110 Biomarker disease HPO
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1
0.110 Biomarker disease HPO
Entrez Id: 4617
Gene Symbol: MYF5
MYF5
0.110 CausalMutation disease CLINVAR
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
0.110 Biomarker disease HPO
Entrez Id: 54453
Gene Symbol: RIN2
RIN2
0.110 Biomarker disease HPO
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
0.110 Biomarker disease HPO
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
0.110 Biomarker disease HPO
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.110 Biomarker disease HPO
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
0.110 Biomarker disease HPO