Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Pitt Hopkins syndrome TCF4 disease C1970431 PosttranslationalModification 1 orphanet , disgenet
Pitt Hopkins syndrome TCF4 disease C1970431 CausalMutation 1 orphanet , disgenet
Pitt Hopkins syndrome TCF4 disease C1970431 Biomarker 1 orphanet , disgenet
Pitt Hopkins syndrome TCF4 disease C1970431 ChromosomalRearrangement 1 orphanet , disgenet
Pitt Hopkins syndrome TCF4 disease C1970431 AlteredExpression 1 orphanet , disgenet
Pitt Hopkins syndrome TCF4 disease C1970431 GeneticVariation 1 orphanet , disgenet
Pitt Hopkins syndrome NRXN1 disease C1970431 GeneticVariation 0.35 disgenet
Pitt Hopkins syndrome NRXN1 disease C1970431 Biomarker 0.35 disgenet
Pitt Hopkins syndrome NRXN1 disease C1970431 AlteredExpression 0.35 disgenet
Pitt Hopkins syndrome CNTNAP2 disease C1970431 Biomarker 0.34 disgenet
Pitt Hopkins syndrome CNTNAP2 disease C1970431 GeneticVariation 0.34 disgenet
Pitt Hopkins syndrome CNTNAP2 disease C1970431 AlteredExpression 0.34 disgenet
Pitt Hopkins syndrome NEUROD1 disease C1970431 GeneticVariation 0.02 disgenet
Pitt Hopkins syndrome NEUROD1 disease C1970431 Biomarker 0.02 disgenet
Pitt Hopkins syndrome MECP2 disease C1970431 GeneticVariation 0.01 disgenet
Pitt Hopkins syndrome FOXG1 disease C1970431 GeneticVariation 0.01 disgenet
Pitt Hopkins syndrome PTEN disease C1970431 GeneticVariation 0.01 disgenet
Pitt Hopkins syndrome HTC2 disease C1970431 GeneticVariation 0.01 disgenet
Pitt Hopkins syndrome ATR disease C1970431 GeneticVariation 0.01 disgenet
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