Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Hypocalciuric hypercalcemia, familial, type 1 |
CASR |
disease |
C0342637 |
GeneticVariation |
1 |
orphanet , disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
CASR |
disease |
C0342637 |
AlteredExpression |
1 |
orphanet , disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
CASR |
disease |
C0342637 |
GermlineCausalMutation |
1 |
orphanet , disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
CASR |
disease |
C0342637 |
CausalMutation |
1 |
orphanet , disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
CASR |
disease |
C0342637 |
Biomarker |
1 |
orphanet , disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
AP2S1 |
disease |
C0342637 |
GeneticVariation |
0.4 |
orphanet , disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
AP2S1 |
disease |
C0342637 |
Biomarker |
0.4 |
orphanet , disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
PTH |
disease |
C0342637 |
GeneticVariation |
0.1 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
HFE |
disease |
C0342637 |
GeneticVariation |
0.1 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
PTH |
disease |
C0342637 |
AlteredExpression |
0.1 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
GNA11 |
disease |
C0342637 |
GeneticVariation |
0.1 |
orphanet , disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
GNA11 |
disease |
C0342637 |
Biomarker |
0.1 |
orphanet , disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
HFE |
disease |
C0342637 |
Biomarker |
0.1 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
PTH |
disease |
C0342637 |
Biomarker |
0.1 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
MEN1 |
disease |
C0342637 |
Biomarker |
0.04 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
MEN1 |
disease |
C0342637 |
GeneticVariation |
0.04 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
MTHFR |
disease |
C0342637 |
GeneticVariation |
0.03 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
SLPI |
disease |
C0342637 |
GeneticVariation |
0.02 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
CCL27 |
disease |
C0342637 |
AlteredExpression |
0.02 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
ATHS |
disease |
C0342637 |
GeneticVariation |
0.02 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
ALPP |
disease |
C0342637 |
GeneticVariation |
0.02 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
DMRT1 |
disease |
C0342637 |
AlteredExpression |
0.02 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
ATHS |
disease |
C0342637 |
AlteredExpression |
0.02 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
NAT10 |
disease |
C0342637 |
AlteredExpression |
0.02 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
CDC73 |
disease |
C0342637 |
Biomarker |
0.02 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
CHMP2B |
disease |
C0342637 |
Biomarker |
0.02 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
SLPI |
disease |
C0342637 |
AlteredExpression |
0.02 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
WNK4 |
disease |
C0342637 |
Biomarker |
0.02 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
NAT10 |
disease |
C0342637 |
GeneticVariation |
0.02 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
ATRNL1 |
disease |
C0342637 |
AlteredExpression |
0.02 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
CHMP2B |
disease |
C0342637 |
AlteredExpression |
0.02 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
WNK4 |
disease |
C0342637 |
GeneticVariation |
0.02 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
ATRNL1 |
disease |
C0342637 |
GeneticVariation |
0.02 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
SLC11A2 |
disease |
C0342637 |
AlteredExpression |
0.02 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
CCL27 |
disease |
C0342637 |
GeneticVariation |
0.02 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
ALPP |
disease |
C0342637 |
AlteredExpression |
0.02 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
DMRT1 |
disease |
C0342637 |
Biomarker |
0.02 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
PDLIM3 |
disease |
C0342637 |
AlteredExpression |
0.02 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
PDLIM3 |
disease |
C0342637 |
GeneticVariation |
0.02 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
SLC11A2 |
disease |
C0342637 |
Biomarker |
0.02 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
ASRGL1 |
disease |
C0342637 |
GeneticVariation |
0.02 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
ASRGL1 |
disease |
C0342637 |
AlteredExpression |
0.02 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
REN |
disease |
C0342637 |
Biomarker |
0.02 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
REN |
disease |
C0342637 |
AlteredExpression |
0.02 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
GSTP1 |
disease |
C0342637 |
GeneticVariation |
0.01 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
BGLAP |
disease |
C0342637 |
AlteredExpression |
0.01 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
AQP2 |
disease |
C0342637 |
AlteredExpression |
0.01 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
CRYGD |
disease |
C0342637 |
Biomarker |
0.01 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
TGFB1 |
disease |
C0342637 |
GeneticVariation |
0.01 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
RAPGEF5 |
disease |
C0342637 |
Biomarker |
0.01 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
HAMP |
disease |
C0342637 |
Biomarker |
0.01 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
MIR183 |
disease |
C0342637 |
AlteredExpression |
0.01 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
TRPV5 |
disease |
C0342637 |
Biomarker |
0.01 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
AGT |
disease |
C0342637 |
GeneticVariation |
0.01 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
TNF |
disease |
C0342637 |
GeneticVariation |
0.01 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
CEACAM1 |
disease |
C0342637 |
AlteredExpression |
0.01 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
MYH7 |
disease |
C0342637 |
Biomarker |
0.01 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
EMP1 |
disease |
C0342637 |
Biomarker |
0.01 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
RNASE1 |
disease |
C0342637 |
GeneticVariation |
0.01 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
MPO |
disease |
C0342637 |
GeneticVariation |
0.01 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
PTRH1 |
disease |
C0342637 |
Biomarker |
0.01 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
SPINK1 |
disease |
C0342637 |
GeneticVariation |
0.01 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
GCG |
disease |
C0342637 |
Biomarker |
0.01 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
HPT |
disease |
C0342637 |
Biomarker |
0.01 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
CDKN1B |
disease |
C0342637 |
Biomarker |
0.01 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
MTA1 |
disease |
C0342637 |
AlteredExpression |
0.01 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
PTGS2 |
disease |
C0342637 |
AlteredExpression |
0.01 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
SLC12A3 |
disease |
C0342637 |
Biomarker |
0.01 |
disgenet |
Hypocalciuric hypercalcemia, familial, type 1 |
SERPINA1 |
disease |
C0342637 |
GeneticVariation |
0.01 |
disgenet |
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