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 58 6

Classifications:



External Ids:

Orphanet 58 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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BRCA2 NM_000059.3(BRCA2):c.9699_9702del (p.Cys3233fs)deletion Pathogenic 38260 rs80359775 13:32972347-32972350 13:32398210-32398213
2 BRCA2 NM_000059.3(BRCA2):c.4440T>G (p.Tyr1480Ter)SNV Pathogenic 51649 rs397507719 13:32912932-32912932 13:32338795-32338795
3 BRCA2 NM_000059.3(BRCA2):c.68-1G>CSNV Pathogenic 627535 rs1060502376 13:32893213-32893213 13:32319076-32319076
4 BRCA2 NM_000059.3(BRCA2):c.8168A>T (p.Asp2723Val)SNV Conflicting interpretations of pathogenicity 140975 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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