Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 46, XY Disorders of Sex Development | | ISO | NR5A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: 46 and XY disorder of sex development | ClinVar | PMID:17694559 more ... | 46,XX sex reversal 4 | | ISO | NR5A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: 46 and XX sex reversal 4 | ClinVar | PMID:11932325 more ... | 46,XY sex reversal 3 | | ISO | NR5A1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11932325 more ... | disorder of sexual development | | ISO | NR5A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Disorder of sexual differentiation | ClinVar | PMID:28492532 | genetic disease | | ISO | NR5A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | hereditary breast ovarian cancer syndrome | | ISO | NR5A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar | PMID:25741868 and PMID:28492532 | hereditary breast ovarian cancer syndrome | | ISO | NR5A1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:22028768 more ... | hereditary breast ovarian cancer syndrome | | ISO | NR5A1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:22028768 more ... | hypospadias | | ISO | NR5A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypospadias | ClinVar | PMID:25741868 | male infertility | | ISO | NR5A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Male infertility | ClinVar | PMID:17940071 more ... | primary ovarian insufficiency 16 | | ISO | NR5A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar | PMID:22028768 more ... | primary ovarian insufficiency 7 | | ISO | NR5A1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11038323 more ... | spermatogenic failure 1 | | ISO | NR5A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Oligosynaptic infertility | ClinVar | PMID:10369247 more ... | spermatogenic failure 3 | | ISO | NR5A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Non-obstructive azoospermia | ClinVar | PMID:18414213 more ... | spermatogenic failure 8 | | ISO | NR5A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spermatogenic failure 8 | ClinVar | PMID:20887963 more ... | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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Imported Disease Annotations - OMIM
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