Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
0.130 GeneticVariation disease BEFREE Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic. 30258207 2018
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
0.130 GeneticVariation disease BEFREE Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes. 27785568 2017
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
0.130 GeneticVariation disease BEFREE Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy. 25971455 2015
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
0.130 Biomarker disease HPO