SMPX, small muscle protein X-linked, 23676

N. diseases: 37; N. variants: 8
Disease: Li-Fraumeni-Like Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome 		0.010 Biomarker disease BEFREE Among 13 early-onset BC, CSL and LFL patients, gene panel sequencing identified a potentially pathogenic variant in CHEK2 that affects a canonical RNA splicing signal. 28608266 2018