PLCG1, phospholipase C gamma 1, 5335

N. diseases: 116; N. variants: 7
Disease: Sezary Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036920
Disease: Sezary Syndrome
Sezary Syndrome 		0.320 GeneticVariation disease BEFREE This study functionally interrogated nine PLCG1 mutations (p.R48W, p.S312L, p.D342N, p.S345F, p.S520F, p.R1158H, p.E1163K, p.D1165H, and the in-frame indel p.VYEEDM1161V) identified in Sézary Syndrome, the leukemic variant of CTCL. 31376383 2020
CUI: C0036920
Disease: Sezary Syndrome
Sezary Syndrome 		0.320 GeneticVariation disease BEFREE Mutations in PLCG1 were detected in 11% of tumors including novel variants not previously described in SS. 27121473 2016
CUI: C0036920
Disease: Sezary Syndrome
Sezary Syndrome 		0.320 Biomarker disease CTD_human Genomic profiling of Sézary syndrome identifies alterations of key T cell signaling and differentiation genes. 26551670 2015