Details of Disease

General Information of Disease (ID: DISDO6AW)

Disease Name Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8
Disease Hierarchy
DISMNLD8: Pulmonary fibrosis and/or bone marrow failure, telomere-related
DISDO6AW: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8
Disease Identifiers
MONDO ID
MONDO_0957263
UMLS CUI
C5830496
OMIM ID
620367
MedGen ID
1841132

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
POT1 OTNBXJCQ Strong Autosomal dominant [1]
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References

1 POT1 recruits and regulates CST-Pol/Primase at human telomeres. bioRxiv [Preprint]. 2023 Oct 26:2023.05.08.539880. doi: 10.1101/2023.05.08.539880.