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 		0.020 GeneticVariation disease BEFREE Biallelic variants in HARS2 have been associated with Perrault syndrome, characterized by sensorineural hearing impairment and premature ovarian insufficiency. 31449985 2020
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.020 GeneticVariation disease BEFREE Biallelic variants in HARS2 are associated with Perrault syndrome, a rare recessive condition characterized by sensorineural hearing loss in both sexes and primary ovarian insufficiency in 46,XX females. 31827252 2020