SCYL1, SCY1 like pseudokinase 1, 57410

N. diseases: 104; N. variants: 13
Disease: Cholestasis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.020 GeneticVariation disease BEFREE Variants in SCYL1 can cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). 30959346 2019
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.020 GeneticVariation disease BEFREE We aimed to identify patients with SCYL1 variants within an exome-sequencing study of individuals with infantile cholestasis or acute liver failure of unknown etiology. 29419818 2018