Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Hypophosphatasia, Infantile |
ALPL |
disease |
C0268412 |
GermlineCausalMutation |
1 |
orphanet , disgenet |
Hypophosphatasia, Infantile |
ALPL |
disease |
C0268412 |
CausalMutation |
1 |
orphanet , disgenet |
Hypophosphatasia, Infantile |
ALPL |
disease |
C0268412 |
GeneticVariation |
1 |
orphanet , disgenet |
Hypophosphatasia, Infantile |
ALPL |
disease |
C0268412 |
Biomarker |
1 |
orphanet , disgenet |
Hypophosphatasia, Infantile |
PDLIM3 |
disease |
C0268412 |
GeneticVariation |
0.02 |
disgenet |
Hypophosphatasia, Infantile |
NAT10 |
disease |
C0268412 |
GeneticVariation |
0.02 |
disgenet |
Hypophosphatasia, Infantile |
ATRNL1 |
disease |
C0268412 |
GeneticVariation |
0.02 |
disgenet |
Hypophosphatasia, Infantile |
ASRGL1 |
disease |
C0268412 |
GeneticVariation |
0.02 |
disgenet |
Hypophosphatasia, Infantile |
TMUB1 |
disease |
C0268412 |
GeneticVariation |
0.02 |
disgenet |
Hypophosphatasia, Infantile |
ATHS |
disease |
C0268412 |
GeneticVariation |
0.02 |
disgenet |
Hypophosphatasia, Infantile |
ALPP |
disease |
C0268412 |
GeneticVariation |
0.02 |
disgenet |
Hypophosphatasia, Infantile |
TMUB1 |
disease |
C0268412 |
Biomarker |
0.02 |
disgenet |
Hypophosphatasia, Infantile |
CCL27 |
disease |
C0268412 |
GeneticVariation |
0.02 |
disgenet |
Hypophosphatasia, Infantile |
SLPI |
disease |
C0268412 |
GeneticVariation |
0.02 |
disgenet |
Hypophosphatasia, Infantile |
ATAD1 |
disease |
C0268412 |
Biomarker |
0.01 |
disgenet |
Hypophosphatasia, Infantile |
CACNA1F |
disease |
C0268412 |
Biomarker |
0.01 |
disgenet |
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