Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Syndrome, Barth TAZ disease C0574083 GermlineCausalMutation 0.8 disgenet
Syndrome, Barth TAZ disease C0574083 Biomarker 0.8 disgenet
Syndrome, Barth TAZ disease C0574083 CausalMutation 0.8 disgenet
Syndrome, Barth TAZ disease C0574083 GeneticVariation 0.8 disgenet
Syndrome, Barth FKBP1A disease C0574083 GeneticVariation 0.21 disgenet
Syndrome, Barth FKBP1A disease C0574083 Biomarker 0.21 disgenet
Syndrome, Barth MEST disease C0574083 Biomarker 0.2 disgenet
Syndrome, Barth ZBTB18 disease C0574083 GeneticVariation 0.06 disgenet
Syndrome, Barth ZBTB18 disease C0574083 Biomarker 0.06 disgenet
Syndrome, Barth CSF3 disease C0574083 Biomarker 0.02 disgenet
Syndrome, Barth CASP3 disease C0574083 AlteredExpression 0.02 disgenet
Syndrome, Barth TBX1 disease C0574083 GeneticVariation 0.01 disgenet
Syndrome, Barth OPA3 disease C0574083 GeneticVariation 0.01 disgenet
Syndrome, Barth MGA disease C0574083 GeneticVariation 0.01 disgenet
Syndrome, Barth FKBP1AP3 disease C0574083 GeneticVariation 0.01 disgenet
Syndrome, Barth DMD disease C0574083 GeneticVariation 0.01 disgenet
Syndrome, Barth CLDN1 disease C0574083 Biomarker 0.01 disgenet
Syndrome, Barth FKBP1AP1 disease C0574083 GeneticVariation 0.01 disgenet
Syndrome, Barth FKBP1AP4 disease C0574083 GeneticVariation 0.01 disgenet
Syndrome, Barth SLC6A8 disease C0574083 Biomarker 0.01 disgenet
Syndrome, Barth FXN disease C0574083 GeneticVariation 0.01 disgenet
Syndrome, Barth HADHA disease C0574083 AlteredExpression 0.01 disgenet
Syndrome, Barth PNPLA2 disease C0574083 Biomarker 0.01 disgenet
Syndrome, Barth SLC25A21 disease C0574083 PosttranslationalModification 0.01 disgenet
Syndrome, Barth TMEM70 disease C0574083 GeneticVariation 0.01 disgenet
Syndrome, Barth DTNA disease C0574083 GeneticVariation 0.01 disgenet
Syndrome, Barth ATRN disease C0574083 Biomarker 0.01 disgenet
Syndrome, Barth CAT disease C0574083 AlteredExpression 0.01 disgenet
Syndrome, Barth PPARA disease C0574083 Biomarker 0.01 disgenet
Syndrome, Barth FKBP1AP2 disease C0574083 GeneticVariation 0.01 disgenet
Syndrome, Barth LDB3 disease C0574083 GeneticVariation 0.01 disgenet
Syndrome, Barth PLA2G6 disease C0574083 Biomarker 0.01 disgenet
Syndrome, Barth DES disease C0574083 Biomarker 0.01 disgenet
Syndrome, Barth PGC disease C0574083 Biomarker 0.01 disgenet
Syndrome, Barth CASP8 disease C0574083 Biomarker 0.01 disgenet
Syndrome, Barth TAFAZZIN NA C0574083 NA NA orphanet
click here to return to the previous page