MCID: GNT162
MIFTS: 5

Genetic Non-Acquired Premature Ovarian Failure

Categories: Rare diseases

Aliases & Classifications for Genetic Non-Acquired Premature Ovarian Failure

MalaCards integrated aliases for Genetic Non-Acquired Premature Ovarian Failure:

Name: Genetic Non-Acquired Premature Ovarian Failure 59 6

Classifications:



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Orphanet 59 ORPHA485382

Summaries for Genetic Non-Acquired Premature Ovarian Failure

MalaCards based summary : Genetic Non-Acquired Premature Ovarian Failure An important gene associated with Genetic Non-Acquired Premature Ovarian Failure is BRCA2 (BRCA2 DNA Repair Associated).

Related Diseases for Genetic Non-Acquired Premature Ovarian Failure

Symptoms & Phenotypes for Genetic Non-Acquired Premature Ovarian Failure

Drugs & Therapeutics for Genetic Non-Acquired Premature Ovarian Failure

Search Clinical Trials , NIH Clinical Center for Genetic Non-Acquired Premature Ovarian Failure

Genetic Tests for Genetic Non-Acquired Premature Ovarian Failure

Anatomical Context for Genetic Non-Acquired Premature Ovarian Failure

Publications for Genetic Non-Acquired Premature Ovarian Failure

Variations for Genetic Non-Acquired Premature Ovarian Failure

ClinVar genetic disease variations for Genetic Non-Acquired Premature Ovarian Failure:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BRCA2 NM_000059.3(BRCA2): c.9699_9702del (p.Cys3233fs) deletion Pathogenic rs80359775 13:32972349-32972352 13:32398212-32398215
2 BRCA2 NM_000059.3(BRCA2): c.4440T> G (p.Tyr1480Ter) single nucleotide variant Pathogenic rs397507719 13:32912932-32912932 13:32338795-32338795
3 BRCA2 NM_000059.3(BRCA2): c.68-1G> C single nucleotide variant Pathogenic 13:32893213-32893213 13:32319076-32319076
4 BRCA2 NM_000059.3(BRCA2): c.8168A> T (p.Asp2723Val) single nucleotide variant Conflicting interpretations of pathogenicity rs41293513 13:32937507-32937507 13:32363370-32363370

Expression for Genetic Non-Acquired Premature Ovarian Failure

Search GEO for disease gene expression data for Genetic Non-Acquired Premature Ovarian Failure.

Pathways for Genetic Non-Acquired Premature Ovarian Failure

GO Terms for Genetic Non-Acquired Premature Ovarian Failure

Sources for Genetic Non-Acquired Premature Ovarian Failure

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69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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