OTUD4, OTU deubiquitinase 4, 54726

N. diseases: 48; N. variants: 3
Disease: Cerebellar Ataxia and Hypogonadotropic Hypogonadism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1859305
Disease: Cerebellar Ataxia and Hypogonadotropic Hypogonadism
Cerebellar Ataxia and Hypogonadotropic Hypogonadism 		0.010 GeneticVariation disease BEFREE Recently, it was suggested that disordered ubiquitination underlies GHS though the discovery of exome mutations in the E3 ligase RNF216 and deubiquitinase OTUD4. 24113144 2014