NUP107, nucleoporin 107, 57122

N. diseases: 98; N. variants: 8
Disease: Premature Menopause ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.120 GeneticVariation disease BEFREE Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency. 29363275 2018
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.120 Biomarker disease BEFREE These results indicate a pivotal role for NUP107 in ovarian development and suggest that nucleoporin defects may play a role in milder and more common conditions such as premature ovarian failure. 26485283 2015
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.120 Biomarker disease HPO