Details of Disease

General Information of Disease (ID: DISLMQNF)

Disease Name Pregnancy loss, recurrent, susceptibility to, 3
Synonyms
RPRGL3; pregnancy loss, recurrent, susceptibility to, type 3; pregnancy loss, recurrent, susceptibility caused by mutation in ANXA5; pregnancy loss, recurrent, susceptibility to, 3; ANXA5 pregnancy loss, recurrent, susceptibility
Definition Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the ANXA5 gene.
Disease Hierarchy
DISHILEF: Pregnancy loss, recurrent, susceptibility
DISLMQNF: Pregnancy loss, recurrent, susceptibility to, 3
Disease Identifiers
MONDO ID
MONDO_0013729
UMLS CUI
C3280674
OMIM ID
614391
MedGen ID
482304

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ANXA5 TT2Z83I Disputed Unknown [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ANXA5 OTZS877V Disputed Unknown [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.