Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Dysostoses, Mandibulofacial |
TCOF1 |
disease |
C0242387 |
Biomarker |
1 |
orphanet , disgenet |
Dysostoses, Mandibulofacial |
TCOF1 |
disease |
C0242387 |
AlteredExpression |
1 |
orphanet , disgenet |
Dysostoses, Mandibulofacial |
TCOF1 |
disease |
C0242387 |
CausalMutation |
1 |
orphanet , disgenet |
Dysostoses, Mandibulofacial |
TCOF1 |
disease |
C0242387 |
GeneticVariation |
1 |
orphanet , disgenet |
Dysostoses, Mandibulofacial |
POLR1C |
disease |
C0242387 |
GeneticVariation |
0.5 |
orphanet , disgenet |
Dysostoses, Mandibulofacial |
POLR1C |
disease |
C0242387 |
Biomarker |
0.5 |
orphanet , disgenet |
Dysostoses, Mandibulofacial |
EDNRA |
disease |
C0242387 |
Biomarker |
0.4 |
orphanet , disgenet |
Dysostoses, Mandibulofacial |
POLR1D |
disease |
C0242387 |
GeneticVariation |
0.38 |
orphanet , disgenet |
Dysostoses, Mandibulofacial |
POLR1D |
disease |
C0242387 |
Biomarker |
0.38 |
orphanet , disgenet |
Dysostoses, Mandibulofacial |
EFTUD2 |
disease |
C0242387 |
GeneticVariation |
0.15 |
orphanet , disgenet |
Dysostoses, Mandibulofacial |
EFTUD2 |
disease |
C0242387 |
Biomarker |
0.15 |
orphanet , disgenet |
Dysostoses, Mandibulofacial |
TP53 |
disease |
C0242387 |
Biomarker |
0.06 |
disgenet |
Dysostoses, Mandibulofacial |
TP53 |
disease |
C0242387 |
AlteredExpression |
0.06 |
disgenet |
Dysostoses, Mandibulofacial |
SPARC |
disease |
C0242387 |
GeneticVariation |
0.05 |
disgenet |
Dysostoses, Mandibulofacial |
NDST1 |
disease |
C0242387 |
Biomarker |
0.02 |
disgenet |
Dysostoses, Mandibulofacial |
PITX1 |
disease |
C0242387 |
AlteredExpression |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
ERGIC2 |
disease |
C0242387 |
AlteredExpression |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
TCEA1 |
disease |
C0242387 |
GeneticVariation |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
RPS14 |
disease |
C0242387 |
GeneticVariation |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
ANXA6 |
disease |
C0242387 |
Biomarker |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
PCNA |
disease |
C0242387 |
AlteredExpression |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
HOXD@ |
disease |
C0242387 |
GeneticVariation |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
WDR43 |
disease |
C0242387 |
Biomarker |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
IL1B |
disease |
C0242387 |
Biomarker |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
SLC6A7 |
disease |
C0242387 |
Biomarker |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
POLR1B |
disease |
C0242387 |
Biomarker |
0.01 |
orphanet , disgenet |
Dysostoses, Mandibulofacial |
NOG |
disease |
C0242387 |
Biomarker |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
COL11A2 |
disease |
C0242387 |
Biomarker |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
CUL3 |
disease |
C0242387 |
GeneticVariation |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
HFM |
disease |
C0242387 |
Biomarker |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
POLR1A |
disease |
C0242387 |
Biomarker |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
QDPR |
disease |
C0242387 |
GeneticVariation |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
TNF |
disease |
C0242387 |
AlteredExpression |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
NOLC1 |
disease |
C0242387 |
GeneticVariation |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
IL1A |
disease |
C0242387 |
Biomarker |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
CAMK2A |
disease |
C0242387 |
GeneticVariation |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
PRDX2 |
disease |
C0242387 |
AlteredExpression |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
HIF1A |
disease |
C0242387 |
Biomarker |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
CSNK2A1 |
disease |
C0242387 |
PosttranslationalModification |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
CRP |
disease |
C0242387 |
AlteredExpression |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
FGFR4 |
disease |
C0242387 |
Biomarker |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
RPS19 |
disease |
C0242387 |
Biomarker |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
CNBP |
disease |
C0242387 |
AlteredExpression |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
CHD7 |
disease |
C0242387 |
Biomarker |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
DDX21 |
disease |
C0242387 |
Biomarker |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
NR3C1 |
disease |
C0242387 |
GeneticVariation |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
PARP1 |
disease |
C0242387 |
Biomarker |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
KBTBD8 |
disease |
C0242387 |
GeneticVariation |
0.01 |
disgenet |
Dysostoses, Mandibulofacial |
IL13 |
disease |
C0242387 |
Biomarker |
0.01 |
disgenet |
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