Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Chediak Higashi Syndrome LYST disease C0007965 GermlineCausalMutation 1 disgenet
Chediak Higashi Syndrome LYST disease C0007965 GeneticVariation 1 disgenet
Chediak Higashi Syndrome LYST disease C0007965 CausalMutation 1 disgenet
Chediak Higashi Syndrome LYST disease C0007965 Biomarker 1 disgenet
Chediak Higashi Syndrome VPS13B disease C0007965 GeneticVariation 0.05 disgenet
Chediak Higashi Syndrome VPS13B disease C0007965 Biomarker 0.05 disgenet
Chediak Higashi Syndrome AP3B1 disease C0007965 Biomarker 0.02 disgenet
Chediak Higashi Syndrome AP3B1 disease C0007965 GeneticVariation 0.02 disgenet
Chediak Higashi Syndrome PRKAB1 disease C0007965 Biomarker 0.01 disgenet
Chediak Higashi Syndrome RAB9A disease C0007965 Biomarker 0.01 disgenet
Chediak Higashi Syndrome NBEAL1 disease C0007965 GeneticVariation 0.01 disgenet
Chediak Higashi Syndrome IDH2 disease C0007965 GeneticVariation 0.01 disgenet
Chediak Higashi Syndrome TLR2 disease C0007965 Biomarker 0.01 disgenet
Chediak Higashi Syndrome BMP1 disease C0007965 Biomarker 0.01 disgenet
Chediak Higashi Syndrome MPO disease C0007965 Biomarker 0.01 disgenet
Chediak Higashi Syndrome CYCS disease C0007965 Biomarker 0.01 disgenet
Chediak Higashi Syndrome CHM disease C0007965 Biomarker 0.01 disgenet
Chediak Higashi Syndrome TRBV20OR9-2 disease C0007965 GeneticVariation 0.01 disgenet
Chediak Higashi Syndrome OCA2 disease C0007965 GeneticVariation 0.01 disgenet
Chediak Higashi Syndrome PRKAA1 disease C0007965 Biomarker 0.01 disgenet
Chediak Higashi Syndrome TYR disease C0007965 GeneticVariation 0.01 disgenet
Chediak Higashi Syndrome TYRP1 disease C0007965 GeneticVariation 0.01 disgenet
Chediak Higashi Syndrome HPS1 disease C0007965 GeneticVariation 0.01 disgenet
Chediak Higashi Syndrome HLCS disease C0007965 Biomarker 0.01 disgenet
Chediak Higashi Syndrome IDH1 disease C0007965 GeneticVariation 0.01 disgenet
Chediak Higashi Syndrome TFF1 disease C0007965 Biomarker 0.01 disgenet
Chediak Higashi Syndrome PIK3R4 disease C0007965 Biomarker 0.01 disgenet
Chediak Higashi Syndrome MIR525 disease C0007965 AlteredExpression 0.01 disgenet
Chediak Higashi Syndrome LAMP1 disease C0007965 Biomarker 0.01 disgenet
Chediak Higashi Syndrome PRKAA2 disease C0007965 Biomarker 0.01 disgenet
Chediak Higashi Syndrome SYTL3 disease C0007965 Biomarker 0.01 disgenet
Chediak Higashi Syndrome ADAM8 disease C0007965 Biomarker 0.01 disgenet
Chediak Higashi Syndrome FGL1 disease C0007965 GeneticVariation 0.01 disgenet
Chediak Higashi Syndrome ANXA5 disease C0007965 Biomarker 0.01 disgenet
Chediak Higashi Syndrome FSD1L disease C0007965 Biomarker 0.01 disgenet
Chediak Higashi Syndrome TLR4 disease C0007965 Biomarker 0.01 disgenet
Chediak Higashi Syndrome RAB7A disease C0007965 AlteredExpression 0.01 disgenet
Chediak Higashi Syndrome MIR25 disease C0007965 Biomarker 0.01 disgenet
Chediak Higashi Syndrome RAB7B disease C0007965 AlteredExpression 0.01 disgenet
Chediak Higashi Syndrome MIR96 disease C0007965 Biomarker 0.01 disgenet
Chediak Higashi Syndrome MIR622 disease C0007965 Biomarker 0.01 disgenet
Chediak Higashi Syndrome VPS39 disease C0007965 Biomarker 0.01 disgenet
Chediak Higashi Syndrome ACTB disease C0007965 Biomarker 0.01 disgenet
Chediak Higashi Syndrome CTLA4 disease C0007965 AlteredExpression 0.01 disgenet
Chediak Higashi Syndrome FSD1 disease C0007965 Biomarker 0.01 disgenet
Chediak Higashi Syndrome LTC4S disease C0007965 AlteredExpression 0.01 disgenet
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