rs104894118, NR5A1

N. diseases: 4
Disease: PREMATURE OVARIAN FAILURE 7 (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PREMATURE OVARIAN FAILURE 7 (disorder)
CUI: C2751825
Disease: PREMATURE OVARIAN FAILURE 7 (disorder)
0.700 GeneticVariation UNIPROT Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort. 26523528 2016
PREMATURE OVARIAN FAILURE 7 (disorder)
CUI: C2751825
Disease: PREMATURE OVARIAN FAILURE 7 (disorder)
0.700 GeneticVariation UNIPROT Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency. 11038323 2000