Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Phenylketonuria, Maternal |
PAH |
disease |
C0085547 |
AlteredExpression |
0.59 |
orphanet , disgenet |
Phenylketonuria, Maternal |
PAH |
disease |
C0085547 |
GeneticVariation |
0.59 |
orphanet , disgenet |
Phenylketonuria, Maternal |
PAH |
disease |
C0085547 |
Biomarker |
0.59 |
orphanet , disgenet |
Phenylketonuria, Maternal |
PAH |
disease |
C0085547 |
GermlineCausalMutation |
0.59 |
orphanet , disgenet |
Phenylketonuria, Maternal |
NEFH |
disease |
C0085547 |
Biomarker |
0.2 |
disgenet |
Phenylketonuria, Maternal |
HNF1A |
disease |
C0085547 |
Biomarker |
0.2 |
disgenet |
Phenylketonuria, Maternal |
PSPH |
disease |
C0085547 |
Biomarker |
0.2 |
disgenet |
Phenylketonuria, Maternal |
CAT |
disease |
C0085547 |
Biomarker |
0.2 |
disgenet |
Phenylketonuria, Maternal |
G6PD |
disease |
C0085547 |
Biomarker |
0.2 |
disgenet |
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