Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
0.110 GeneticVariation disease BEFREE Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive. 30078785 2018
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
0.110 Biomarker disease HPO