FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Disease: Premature ovarian failure, familial ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2930861
Disease: Premature ovarian failure, familial
Premature ovarian failure, familial 		0.010 GeneticVariation disease BEFREE We studied five groups of women with ovarian dysfunction for the CGG expansion in FMR1 and a (TA)n polymorphism in the estrogen receptor gene: a) poor responders to ovarian stimulation as part of in vitro fertilization (n = 13); b) women with familial premature ovarian failure (POF) (n = 7); c) sporadic cases with POF (n = 16); d) FRAXA premutation carriers with POF (n = 7); and e) FRAXA premutation carriers without POF (n = 9). 10331614 1999