ETV6, ETS variant transcription factor 6, 2120

N. diseases: 241; N. variants: 18
Disease: Isodicentric Chromosome 15 Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711376
Disease: Isodicentric Chromosome 15 Syndrome
Isodicentric Chromosome 15 Syndrome 		0.010 Biomarker disease BEFREE This case describes for the first time a de novo chromosomal abnormality (46, XX, inv dup del(12)(qter-p13.3::p13.3-p12.3:)dn.ish inv dup del(12)(TEL-ETV6++) which produced the phenotype of a female with primary ovarian failure and subsequent osteopenia in early adult life. 22715224 2011