DAZ1, deleted in azoospermia 1, 1617

N. diseases: 23; N. variants: 0
Disease: Turner Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		0.020 Biomarker disease BEFREE Startling mosaicism of the Y-chromosome and tandem duplication of the SRY and DAZ genes in patients with Turner Syndrome. 19030103 2008
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		0.020 Biomarker disease BEFREE Two hundred and fifty patients with Turner syndrome stigmata were studied and 36 who had female genitalia and had been cytogenetically diagnosed as having "pure" 45,X karyotype were selected after 100 metaphases were analyzed in order to exclude mosaicism and the presence of genomic Y-specific sequences (SRY, TSPY, and DAZ) was excluded by PCR. 18545811 2008