Details of Disease | DrugMAP

General Information of Disease (ID: DISUA42K)

Disease Name	Silver-Russell syndrome 5
Synonyms	Silver-Russell syndrome 5; SRS5; SILVER-RUSSELL SYNDROME 5
Disease Hierarchy	DISSVJ1D: Silver-Russell syndrome DISUA42K: Silver-Russell syndrome 5
Disease Identifiers	MONDO ID MONDO_0020795 UMLS CUI C5394456 OMIM ID 618908 MedGen ID 1713787

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
HMGA2	TTSTVM0	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HMGA2	OTBMBHHL	Strong	Autosomal dominant	[1]
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References

1	Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience. Eur J Med Genet. 2009 Nov-Dec;52(6):398-403. doi: 10.1016/j.ejmg.2009.09.002. Epub 2009 Sep 16.