Details of Disease

General Information of Disease (ID: DISNZ1SL)

Disease Name Treacher Collins syndrome 4
Synonyms TCS4; Treacher-Collins syndrome 4; TREACHER COLLINS SYNDROME 4; treacher collins syndrome 4
Disease Hierarchy
DIS2GXZ1: Treacher-Collins syndrome
DISNZ1SL: Treacher Collins syndrome 4
Disease Identifiers
MONDO ID
MONDO_0030067
UMLS CUI
C5394546
OMIM ID
618939
MedGen ID
1712280

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
POLR1B OTKREU8M Strong Autosomal dominant [1]
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References

1 POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4. Genet Med. 2020 Mar;22(3):547-556. doi: 10.1038/s41436-019-0669-9. Epub 2019 Oct 24.