Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress |
NKX2-1 |
disease |
C1970269 |
Biomarker |
0.77 |
orphanet , disgenet |
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress |
NKX2-1 |
disease |
C1970269 |
GermlineCausalMutation |
0.77 |
orphanet , disgenet |
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress |
NKX2-1 |
disease |
C1970269 |
CausalMutation |
0.77 |
orphanet , disgenet |
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress |
NKX2-1 |
disease |
C1970269 |
GeneticVariation |
0.77 |
orphanet , disgenet |
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress |
NFKBIA |
disease |
C1970269 |
Biomarker |
0.01 |
disgenet |
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress |
MBIP |
disease |
C1970269 |
Biomarker |
0.01 |
disgenet |
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress |
WWTR1 |
disease |
C1970269 |
AlteredExpression |
0.01 |
disgenet |
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress |
TTF1 |
disease |
C1970269 |
GeneticVariation |
0.01 |
disgenet |
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress |
PAX9 |
disease |
C1970269 |
GeneticVariation |
0.01 |
disgenet |
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress |
PAX8 |
disease |
C1970269 |
GeneticVariation |
0.01 |
disgenet |
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