Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 344018
Gene Symbol: FIGLA
FIGLA
0.140 GeneticVariation disease BEFREE Bi-allelic recessive loss-of-function mutations in FIGLA cause premature ovarian insufficiency with short stature. 30474133 2019
Entrez Id: 344018
Gene Symbol: FIGLA
FIGLA
0.140 GeneticVariation disease BEFREE Consanguineous familial study revealed biallelic FIGLA mutation associated with premature ovarian insufficiency. 29914564 2018
Entrez Id: 344018
Gene Symbol: FIGLA
FIGLA
0.140 GeneticVariation disease BEFREE Seven different FIGLA variants were detected among women with POF. 25314148 2015
Entrez Id: 344018
Gene Symbol: FIGLA
FIGLA
0.140 GeneticVariation disease BEFREE We screened 100 Chinese women with POF for mutations in the oocyte-specific gene FIGLA and identified three variants in four women: missense mutation c.11C --> A (p.A4E) was found in two women; deletion c. 15-36 del (p.G6fsX66), resulting in a frameshift that leads to haploinsufficiency, was found in one woman; and deletion c.419-421 delACA (p.140 delN) was found in one. 18499083 2008
Entrez Id: 344018
Gene Symbol: FIGLA
FIGLA
0.140 Biomarker disease HPO