Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Atrioventricular Septal Defect |
GATA6 |
disease |
C1389018 |
Biomarker |
0.4 |
orphanet , disgenet |
Atrioventricular Septal Defect |
GATA4 |
disease |
C1389018 |
GeneticVariation |
0.32 |
orphanet , disgenet |
Atrioventricular Septal Defect |
GATA4 |
disease |
C1389018 |
Biomarker |
0.32 |
orphanet , disgenet |
Atrioventricular Septal Defect |
GJA1 |
disease |
C1389018 |
Biomarker |
0.3 |
disgenet |
Atrioventricular Septal Defect |
GDF1 |
disease |
C1389018 |
GeneticVariation |
0.11 |
disgenet |
Atrioventricular Septal Defect |
TBX1 |
disease |
C1389018 |
GeneticVariation |
0.11 |
disgenet |
Atrioventricular Septal Defect |
TBX5 |
disease |
C1389018 |
GeneticVariation |
0.11 |
disgenet |
Atrioventricular Septal Defect |
TBX1 |
disease |
C1389018 |
Biomarker |
0.11 |
disgenet |
Atrioventricular Septal Defect |
GDF1 |
disease |
C1389018 |
Biomarker |
0.11 |
disgenet |
Atrioventricular Septal Defect |
PTPN11 |
disease |
C1389018 |
CausalMutation |
0.1 |
disgenet |
Atrioventricular Septal Defect |
GATA1 |
disease |
C1389018 |
Biomarker |
0.1 |
disgenet |
Atrioventricular Septal Defect |
NKX2-6 |
disease |
C1389018 |
Biomarker |
0.1 |
disgenet |
Atrioventricular Septal Defect |
HDAC8 |
disease |
C1389018 |
CausalMutation |
0.1 |
disgenet |
Atrioventricular Septal Defect |
CDC45 |
disease |
C1389018 |
Biomarker |
0.1 |
disgenet |
Atrioventricular Septal Defect |
NKX2-5 |
disease |
C1389018 |
Biomarker |
0.1 |
orphanet , disgenet |
Atrioventricular Septal Defect |
INTU |
disease |
C1389018 |
Biomarker |
0.1 |
disgenet |
Atrioventricular Septal Defect |
SMARCA4 |
disease |
C1389018 |
GeneticVariation |
0.1 |
disgenet |
Atrioventricular Septal Defect |
WDPCP |
disease |
C1389018 |
Biomarker |
0.1 |
disgenet |
Atrioventricular Septal Defect |
SMARCAL1 |
disease |
C1389018 |
CausalMutation |
0.1 |
disgenet |
Atrioventricular Septal Defect |
ANKRD11 |
disease |
C1389018 |
GeneticVariation |
0.1 |
disgenet |
Atrioventricular Septal Defect |
TRIO |
disease |
C1389018 |
Biomarker |
0.1 |
disgenet |
Atrioventricular Septal Defect |
HYLS1 |
disease |
C1389018 |
Biomarker |
0.1 |
disgenet |
Atrioventricular Septal Defect |
PUF60 |
disease |
C1389018 |
Biomarker |
0.1 |
disgenet |
Atrioventricular Septal Defect |
CRELD1 |
disease |
C1389018 |
GeneticVariation |
0.05 |
orphanet , disgenet |
Atrioventricular Septal Defect |
CRELD1 |
disease |
C1389018 |
Biomarker |
0.05 |
orphanet , disgenet |
Atrioventricular Septal Defect |
BMP4 |
disease |
C1389018 |
Biomarker |
0.02 |
disgenet |
Atrioventricular Septal Defect |
HEY2 |
disease |
C1389018 |
AlteredExpression |
0.02 |
disgenet |
Atrioventricular Septal Defect |
HEY2 |
disease |
C1389018 |
Biomarker |
0.02 |
disgenet |
Atrioventricular Septal Defect |
BMP2 |
disease |
C1389018 |
AlteredExpression |
0.02 |
disgenet |
Atrioventricular Septal Defect |
TBX2 |
disease |
C1389018 |
AlteredExpression |
0.02 |
disgenet |
Atrioventricular Septal Defect |
PITX2 |
disease |
C1389018 |
AlteredExpression |
0.02 |
disgenet |
Atrioventricular Septal Defect |
PITX2 |
disease |
C1389018 |
Biomarker |
0.02 |
disgenet |
Atrioventricular Septal Defect |
BMP4 |
disease |
C1389018 |
AlteredExpression |
0.02 |
disgenet |
Atrioventricular Septal Defect |
MYL7 |
disease |
C1389018 |
Biomarker |
0.01 |
disgenet |
Atrioventricular Septal Defect |
BAZ2B |
disease |
C1389018 |
Biomarker |
0.01 |
disgenet |
Atrioventricular Septal Defect |
FOXP1 |
disease |
C1389018 |
Biomarker |
0.01 |
disgenet |
Atrioventricular Septal Defect |
NPNT |
disease |
C1389018 |
Biomarker |
0.01 |
disgenet |
Atrioventricular Septal Defect |
ACVR1 |
disease |
C1389018 |
GeneticVariation |
0.01 |
disgenet |
Atrioventricular Septal Defect |
HAND2 |
disease |
C1389018 |
Biomarker |
0.01 |
disgenet |
Atrioventricular Septal Defect |
MED12 |
disease |
C1389018 |
AlteredExpression |
0.01 |
disgenet |
Atrioventricular Septal Defect |
MDM4 |
disease |
C1389018 |
GeneticVariation |
0.01 |
disgenet |
Atrioventricular Septal Defect |
HTC2 |
disease |
C1389018 |
Biomarker |
0.01 |
disgenet |
Atrioventricular Septal Defect |
ACE |
disease |
C1389018 |
GeneticVariation |
0.01 |
disgenet |
Atrioventricular Septal Defect |
TFAP2B |
disease |
C1389018 |
GeneticVariation |
0.01 |
disgenet |
Atrioventricular Septal Defect |
CEMIP2 |
disease |
C1389018 |
Biomarker |
0.01 |
disgenet |
Atrioventricular Septal Defect |
SLC19A1 |
disease |
C1389018 |
GeneticVariation |
0.01 |
disgenet |
Atrioventricular Septal Defect |
AUTS2 |
disease |
C1389018 |
Biomarker |
0.01 |
disgenet |
Atrioventricular Septal Defect |
RUNX2 |
disease |
C1389018 |
AlteredExpression |
0.01 |
disgenet |
Atrioventricular Septal Defect |
CHDH |
disease |
C1389018 |
Biomarker |
0.01 |
disgenet |
Atrioventricular Septal Defect |
IFT172 |
disease |
C1389018 |
GeneticVariation |
0.01 |
disgenet |
Atrioventricular Septal Defect |
SNAI1 |
disease |
C1389018 |
AlteredExpression |
0.01 |
disgenet |
Atrioventricular Septal Defect |
SALL4 |
disease |
C1389018 |
Biomarker |
0.01 |
disgenet |
Atrioventricular Septal Defect |
CASP3 |
disease |
C1389018 |
Biomarker |
0.01 |
disgenet |
Atrioventricular Septal Defect |
ETV5 |
disease |
C1389018 |
Biomarker |
0.01 |
disgenet |
Atrioventricular Septal Defect |
SOX9 |
disease |
C1389018 |
AlteredExpression |
0.01 |
disgenet |
Atrioventricular Septal Defect |
IFT27 |
disease |
C1389018 |
GeneticVariation |
0.01 |
disgenet |
Atrioventricular Septal Defect |
CHD7 |
disease |
C1389018 |
GeneticVariation |
0.01 |
disgenet |
Atrioventricular Septal Defect |
ZIC3 |
disease |
C1389018 |
GeneticVariation |
0.01 |
disgenet |
Atrioventricular Septal Defect |
NEXMIF |
disease |
C1389018 |
Biomarker |
0.01 |
disgenet |
Atrioventricular Septal Defect |
IL1B |
disease |
C1389018 |
Biomarker |
0.01 |
disgenet |
Atrioventricular Septal Defect |
AVSD1 |
disease |
C1389018 |
Biomarker |
0.01 |
disgenet |
Atrioventricular Septal Defect |
TAMM41 |
disease |
C1389018 |
Biomarker |
0.01 |
disgenet |
Atrioventricular Septal Defect |
MTR |
disease |
C1389018 |
GeneticVariation |
0.01 |
disgenet |
Atrioventricular Septal Defect |
RBM24 |
disease |
C1389018 |
Biomarker |
0.01 |
disgenet |
Atrioventricular Septal Defect |
NFATC1 |
disease |
C1389018 |
Biomarker |
0.01 |
disgenet |
Atrioventricular Septal Defect |
NR2F2 |
NA |
C1389018 |
NA |
NA |
orphanet |
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