Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
COL4A1 |
disease |
C2673195 |
CausalMutation |
0.77 |
orphanet , disgenet |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
COL4A1 |
disease |
C2673195 |
Biomarker |
0.77 |
orphanet , disgenet |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
COL4A1 |
disease |
C2673195 |
GeneticVariation |
0.77 |
orphanet , disgenet |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
COL4A1 |
disease |
C2673195 |
GermlineCausalMutation |
0.77 |
orphanet , disgenet |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
COL4A2 |
disease |
C2673195 |
CausalMutation |
0.1 |
disgenet |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
PKD2 |
disease |
C2673195 |
GeneticVariation |
0.01 |
disgenet |
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