BRD2, bromodomain containing 2, 6046

N. diseases: 303; N. variants: 20
Disease: Primary physiologic amenorrhea ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		0.040 Biomarker disease BEFREE The index patient presented with a female phenotype, primary amenorrhoea (low oestradiol and testosterone and high FSH and LH). 28708305 2017
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		0.040 Biomarker disease BEFREE A new FSHbeta mutation in a 29-year-old woman with primary amenorrhea and isolated FSH deficiency: functional characterization and ovarian response to human recombinant FSH. 19966036 2010
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		0.040 AlteredExpression disease BEFREE Our findings suggest that increased serum FSH levels in subjects with primary amenorrhea correlated to FSHR genotype at position -29. 20237833 2010
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		0.040 Biomarker disease BEFREE We report on an Indian patient who has premature ovarian failure with primary amenorrhea as well as a hormone level increased for LH and FSH but decreased for TSH. 17482166 2007