Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Stomatocytosis I RHAG disease C1861455 GermlineCausalMutation 0.71 orphanet , disgenet
Stomatocytosis I RHAG disease C1861455 Biomarker 0.71 orphanet , disgenet
Stomatocytosis I RHAG disease C1861455 CausalMutation 0.71 orphanet , disgenet
Stomatocytosis I RHAG disease C1861455 GeneticVariation 0.71 orphanet , disgenet
Stomatocytosis I CENPJ disease C1861455 GeneticVariation 0.04 disgenet
Stomatocytosis I CENPJ disease C1861455 Biomarker 0.04 disgenet
Stomatocytosis I COPD disease C1861455 Biomarker 0.02 disgenet
Stomatocytosis I STOM disease C1861455 AlteredExpression 0.02 disgenet
Stomatocytosis I STOM disease C1861455 Biomarker 0.02 disgenet
Stomatocytosis I MRPS30 disease C1861455 Biomarker 0.01 disgenet
Stomatocytosis I DESI1 disease C1861455 Biomarker 0.01 disgenet
Stomatocytosis I ATP7A disease C1861455 AlteredExpression 0.01 disgenet
Stomatocytosis I PDAP1 disease C1861455 Biomarker 0.01 disgenet
Stomatocytosis I PIEZO1 disease C1861455 GeneticVariation 0.01 disgenet
Stomatocytosis I NOS3 disease C1861455 AlteredExpression 0.01 disgenet
Stomatocytosis I ASAP2 disease C1861455 Biomarker 0.01 disgenet
Stomatocytosis I ACP3 disease C1861455 Biomarker 0.01 disgenet
Stomatocytosis I REG3A disease C1861455 Biomarker 0.01 disgenet
Stomatocytosis I TFRC disease C1861455 AlteredExpression 0.01 disgenet
Stomatocytosis I TUSC2 disease C1861455 Biomarker 0.01 disgenet
Stomatocytosis I PAPOLA disease C1861455 Biomarker 0.01 disgenet
Stomatocytosis I SLC35G1 disease C1861455 Biomarker 0.01 disgenet
Stomatocytosis I POMC disease C1861455 AlteredExpression 0.01 disgenet
Stomatocytosis I MTPAP disease C1861455 Biomarker 0.01 disgenet
Stomatocytosis I ASAP1 disease C1861455 Biomarker 0.01 disgenet
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