Details of Disease

General Information of Disease (ID: DISKXWH5)

Disease Name Thyroid hormone metabolism, abnormal
Disease Hierarchy
DISRGY2N: Endocrine disease
DISYKSRF: Genetic disease
DISKXWH5: Thyroid hormone metabolism, abnormal
Disease Identifiers
MONDO ID
MONDO_0031432
MESH ID
C566454
UMLS CUI
C1864761
MedGen ID
355288

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SECISBP2 OTBXUURJ Limited Genetic Variation [1]
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References

1 A Novel Homozygous Selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2, SBP2) Gene Mutation in a Turkish Boy.Thyroid. 2018 Sep;28(9):1221-1223. doi: 10.1089/thy.2018.0015. Epub 2018 Aug 2.