Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia
0.610 GermlineCausalMutation disease ORPHANET Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. 27426733 2016
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia
0.610 GeneticVariation disease BEFREE Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. 27426733 2016
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia
0.610 Biomarker disease CTD_human
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia
0.610 Biomarker disease GENOMICS_ENGLAND