SPTBN1, spectrin beta, non-erythrocytic 1, 6711

N. diseases: 76; N. variants: 31
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.030 Biomarker disease BEFREE Appraising diagnostic performance of ELF test by pathological staging and digital quantification of liver fibrosis. 31558418 2020
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.030 AlteredExpression disease BEFREE <b>Abbreviations</b> PSC: Primary sclerosing cholangitis; IBD: inflammatory bowel disease; CCA: cholangiocarcinoma; SAP: serum alkaline phosphatase; ULN: upper limit of normal; UDCA: ursodeoxycholic acid; CRP: c-reactive protein; AST: aspartate aminotransferase; ALT: alanine aminotransferase; INR: international normalized ratio; FIS: fatigue impact scale; AE: adverse events; PREsTo: PSC risk estimate tool; IQR: interquartile range; ELF: enhanced liver fibrosis. 31131678 2019
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.030 Biomarker disease BEFREE The ELF test (Enhanced Liver Fibrosis test; Siemens Diagnostics, NY, USA) has been assessed for its capacity to detect fibrosis in patients with NAFLD, but its capacity for diagnosing NASH has not been checked. 28229316 2017