Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hypothalamic hamartomas GLI3 disease C0342418 Biomarker 0.63 disgenet
Hypothalamic hamartomas GLI3 disease C0342418 GeneticVariation 0.63 disgenet
Hypothalamic hamartomas SOX2 disease C0342418 Biomarker 0.11 disgenet
Hypothalamic hamartomas TCTN3 disease C0342418 Biomarker 0.1 disgenet
Hypothalamic hamartomas KIF7 disease C0342418 Biomarker 0.1 disgenet
Hypothalamic hamartomas TMEM216 disease C0342418 Biomarker 0.1 disgenet
Hypothalamic hamartomas PDE6D disease C0342418 Biomarker 0.1 disgenet
Hypothalamic hamartomas FAM149B1 disease C0342418 Biomarker 0.1 disgenet
Hypothalamic hamartomas SIX6 disease C0342418 Biomarker 0.1 disgenet
Hypothalamic hamartomas CPLANE1 disease C0342418 Biomarker 0.1 disgenet
Hypothalamic hamartomas OFD1 disease C0342418 Biomarker 0.1 disgenet
Hypothalamic hamartomas KIAA0753 disease C0342418 Biomarker 0.1 disgenet
Hypothalamic hamartomas MAPK3 disease C0342418 AlteredExpression 0.01 disgenet
Hypothalamic hamartomas MCF2L disease C0342418 Biomarker 0.01 disgenet
Hypothalamic hamartomas PRKACA disease C0342418 GeneticVariation 0.01 disgenet
Hypothalamic hamartomas GJA1 disease C0342418 AlteredExpression 0.01 disgenet
Hypothalamic hamartomas SLC25A6 disease C0342418 AlteredExpression 0.01 disgenet
Hypothalamic hamartomas PLCG1 disease C0342418 AlteredExpression 0.01 disgenet
Hypothalamic hamartomas LRP2 disease C0342418 Biomarker 0.01 disgenet
Hypothalamic hamartomas TGFA disease C0342418 Biomarker 0.01 disgenet
Hypothalamic hamartomas SMO disease C0342418 GeneticVariation 0.01 disgenet
Hypothalamic hamartomas POU3F4 disease C0342418 Biomarker 0.01 disgenet
Hypothalamic hamartomas SLC25A4 disease C0342418 AlteredExpression 0.01 disgenet
Hypothalamic hamartomas SLC12A5 disease C0342418 AlteredExpression 0.01 disgenet
Hypothalamic hamartomas SMUG1 disease C0342418 Biomarker 0.01 disgenet
Hypothalamic hamartomas GJD2 disease C0342418 AlteredExpression 0.01 disgenet
Hypothalamic hamartomas ADARB1 disease C0342418 Biomarker 0.01 disgenet
Hypothalamic hamartomas NUP98 disease C0342418 Biomarker 0.01 disgenet
Hypothalamic hamartomas MAPK8 disease C0342418 AlteredExpression 0.01 disgenet
Hypothalamic hamartomas BDNF disease C0342418 AlteredExpression 0.01 disgenet
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