Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis |
ACSL4 |
disease |
C1846242 |
ChromosomalRearrangement |
0.51 |
disgenet |
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis |
ACSL4 |
disease |
C1846242 |
Biomarker |
0.51 |
disgenet |
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis |
AMMECR1 |
disease |
C1846242 |
Biomarker |
0.33 |
disgenet |
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis |
AMMECR1 |
disease |
C1846242 |
GermlineCausalMutation |
0.33 |
disgenet |
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis |
AMMECR1 |
disease |
C1846242 |
ChromosomalRearrangement |
0.33 |
disgenet |
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis |
AMMECR1 |
disease |
C1846242 |
GeneticVariation |
0.33 |
disgenet |
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis |
KCNE5 |
disease |
C1846242 |
ChromosomalRearrangement |
0.3 |
disgenet |
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis |
AMMEC |
disease |
C1846242 |
Biomarker |
0.01 |
disgenet |
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