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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