<gh_stars>0
{"target":"http://pubannotation.org/docs/sourcedb/OMIM@xiajingbo/sourceid/300473-8-NR0B1","sourcedb":"OMIM@xiajingbo","sourceid":"300473-8-NR0B1","text":"Mantovani et al. (2002)\u00a0reported AHC (300200) in a patient who presented with hypogonadotropic hypogonadism at 28 years of age. Although the patient had no clinical evidence of adrenal dysfunction, compensated primary adrenal failure was diagnosed by biochemical testing. Semen analysis showed azoospermia, and the patient did not achieve fertility after 8 months of treatment with gonadotropins. A novel tyr380-to-asp (Y380D) missense mutation in the\u00a0DAX1\u00a0gene, which caused partial loss of function in transient gene expression assays, was found. The authors concluded that partial loss-of-function mutations in\u00a0DAX1\u00a0can present with HHG and covert adrenal failure in adulthood","project":"HZAU_Active_Gene_Corpus","denotations":[{"id":"T1","span":{"begin":436,"end":444},"obj":"Variation"},{"id":"T5","span":{"begin":448,"end":461},"obj":"Gene"},{"id":"T3","span":{"begin":484,"end":488},"obj":"Negative_Regulation"},{"id":"T7","span":{"begin":492,"end":500},"obj":"Molecular_Physiological_Activity"},{"id":"T6","span":{"begin":584,"end":600},"obj":"Negative_Regulation"},{"id":"T4","span":{"begin":601,"end":610},"obj":"Variation"},{"id":"T8","span":{"begin":614,"end":618},"obj":"Gene"}],"relations":[{"id":"R1","pred":"ThemeOf","subj":"T5","obj":"T1"},{"id":"R2","pred":"ThemeOf","subj":"T3","obj":"T7"},{"id":"R3","pred":"CauseOf","subj":"T1","obj":"T3"},{"id":"R4","pred":"CauseOf","subj":"T4","obj":"T6"},{"id":"R5","pred":"ThemeOf","subj":"T8","obj":"T4"}]}