Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Adrenal hyperplasia, congenital, type 5 |
CYP17A1 |
disease |
C0268285 |
AlteredExpression |
0.8 |
orphanet , disgenet |
Adrenal hyperplasia, congenital, type 5 |
CYP17A1 |
disease |
C0268285 |
CausalMutation |
0.8 |
orphanet , disgenet |
Adrenal hyperplasia, congenital, type 5 |
CYP17A1 |
disease |
C0268285 |
GeneticVariation |
0.8 |
orphanet , disgenet |
Adrenal hyperplasia, congenital, type 5 |
CYP17A1 |
disease |
C0268285 |
GermlineCausalMutation |
0.8 |
orphanet , disgenet |
Adrenal hyperplasia, congenital, type 5 |
CYP17A1 |
disease |
C0268285 |
Biomarker |
0.8 |
orphanet , disgenet |
Adrenal hyperplasia, congenital, type 5 |
CYB5A |
disease |
C0268285 |
GermlineCausalMutation |
0.3 |
disgenet |
Adrenal hyperplasia, congenital, type 5 |
WBP1L |
disease |
C0268285 |
CausalMutation |
0.1 |
disgenet |
Adrenal hyperplasia, congenital, type 5 |
WBP1L |
disease |
C0268285 |
GeneticVariation |
0.1 |
disgenet |
Adrenal hyperplasia, congenital, type 5 |
CYP2B6 |
disease |
C0268285 |
AlteredExpression |
0.01 |
disgenet |
Adrenal hyperplasia, congenital, type 5 |
AMH |
disease |
C0268285 |
Biomarker |
0.01 |
disgenet |
Adrenal hyperplasia, congenital, type 5 |
PPIG |
disease |
C0268285 |
GeneticVariation |
0.01 |
disgenet |
Adrenal hyperplasia, congenital, type 5 |
POMC |
disease |
C0268285 |
GeneticVariation |
0.01 |
disgenet |
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