Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Hypophosphatemic Rickets with Hypercalciuria, Hereditary |
SLC34A3 |
disease |
C1853271 |
GermlineCausalMutation |
0.8 |
orphanet , disgenet |
Hypophosphatemic Rickets with Hypercalciuria, Hereditary |
SLC34A3 |
disease |
C1853271 |
GeneticVariation |
0.8 |
orphanet , disgenet |
Hypophosphatemic Rickets with Hypercalciuria, Hereditary |
SLC34A3 |
disease |
C1853271 |
CausalMutation |
0.8 |
orphanet , disgenet |
Hypophosphatemic Rickets with Hypercalciuria, Hereditary |
SLC34A3 |
disease |
C1853271 |
Biomarker |
0.8 |
orphanet , disgenet |
Hypophosphatemic Rickets with Hypercalciuria, Hereditary |
SLC34A1 |
disease |
C1853271 |
Biomarker |
0.2 |
orphanet , disgenet |
Hypophosphatemic Rickets with Hypercalciuria, Hereditary |
BGLAP |
disease |
C1853271 |
Biomarker |
0.01 |
disgenet |
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