Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Telomeric 22q13 Monosomy Syndrome |
SHANK3 |
disease |
C1853490 |
GeneticVariation |
1 |
orphanet , disgenet |
Telomeric 22q13 Monosomy Syndrome |
SHANK3 |
disease |
C1853490 |
Biomarker |
1 |
orphanet , disgenet |
Telomeric 22q13 Monosomy Syndrome |
SHANK3 |
disease |
C1853490 |
CausalMutation |
1 |
orphanet , disgenet |
Telomeric 22q13 Monosomy Syndrome |
SHANK3 |
disease |
C1853490 |
AlteredExpression |
1 |
orphanet , disgenet |
Telomeric 22q13 Monosomy Syndrome |
SHANK3 |
disease |
C1853490 |
ChromosomalRearrangement |
1 |
orphanet , disgenet |
Telomeric 22q13 Monosomy Syndrome |
INS |
disease |
C1853490 |
Therapeutic |
0.3 |
disgenet |
Telomeric 22q13 Monosomy Syndrome |
HTC2 |
disease |
C1853490 |
Biomarker |
0.02 |
disgenet |
Telomeric 22q13 Monosomy Syndrome |
ARSA |
disease |
C1853490 |
GeneticVariation |
0.02 |
disgenet |
Telomeric 22q13 Monosomy Syndrome |
HTC2 |
disease |
C1853490 |
GeneticVariation |
0.02 |
disgenet |
Telomeric 22q13 Monosomy Syndrome |
PSD |
disease |
C1853490 |
GeneticVariation |
0.01 |
disgenet |
Telomeric 22q13 Monosomy Syndrome |
CACNA1C |
disease |
C1853490 |
GeneticVariation |
0.01 |
disgenet |
Telomeric 22q13 Monosomy Syndrome |
KANSL1 |
disease |
C1853490 |
GeneticVariation |
0.01 |
disgenet |
Telomeric 22q13 Monosomy Syndrome |
PNPLA3 |
disease |
C1853490 |
GeneticVariation |
0.01 |
disgenet |
Telomeric 22q13 Monosomy Syndrome |
IGF1 |
disease |
C1853490 |
Biomarker |
0.01 |
disgenet |
Telomeric 22q13 Monosomy Syndrome |
NOTCH1 |
disease |
C1853490 |
AlteredExpression |
0.01 |
disgenet |
Telomeric 22q13 Monosomy Syndrome |
SHANK1 |
disease |
C1853490 |
GeneticVariation |
0.01 |
disgenet |
Telomeric 22q13 Monosomy Syndrome |
MAPK8IP2 |
disease |
C1853490 |
GeneticVariation |
0.01 |
disgenet |
Telomeric 22q13 Monosomy Syndrome |
SHANK2 |
disease |
C1853490 |
Biomarker |
0.01 |
disgenet |
Telomeric 22q13 Monosomy Syndrome |
CLK2 |
disease |
C1853490 |
Biomarker |
0.01 |
disgenet |
Telomeric 22q13 Monosomy Syndrome |
MBD5 |
disease |
C1853490 |
GeneticVariation |
0.01 |
disgenet |
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