LBR, lamin B receptor, 3930

N. diseases: 307; N. variants: 17
Disease: Congenital chromosomal disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.020 Biomarker group BEFREE In this patient, the frequencies of spontaneous chromosome aberrations and micronuclei in PHA stimulated peripheral blood lymphocytes are elevated when compared to those in normal individuals. 7203468 1980
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.020 Biomarker group BEFREE The chromosome abnormalities were detected in B- as well as T-lymphocytes (as evidenced by using both PHA- and PWM-stimulated cultures) in all probands, but one was mosaic in PHA culture, although all his PWM-stimulated cells were abnormal. 314782 1979