BCL6, BCL6 transcription repressor, 604

N. diseases: 309; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4317091
Disease: Trisomy 18 Syndrome
Trisomy 18 Syndrome
0.020 Biomarker disease BEFREE The results of an examination of a paraffin block histopathology specimen by fluorescence in-situ hybridization (FISH) showed no mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1) (18q21.1), B-cell lymphoma 2 (BCL2) (18q21.3), or BCL6 (3q27) split signals in either the uterus or the greater omentum, however, trisomy 18 was detected in approximately 50%-70% of the tumor cells in both the uterus and the greater omentum. 24294388 2013
CUI: C4317091
Disease: Trisomy 18 Syndrome
Trisomy 18 Syndrome
0.020 GeneticVariation disease BEFREE Among them, only one showed a break-apart of the IgH gene and all others showed numerical abnormalities, including trisomy 18 in 7 cases (25%), 3 copies of BCL6 gene in 12 cases (43%), and 3 copies of C-MYC gene in 2 cases (7%). 20807089 2010