Details of Disease | DrugMAP

General Information of Disease (ID: DIS36J1K)

Disease Name	Spondyloepimetaphyseal dysplasia, Krakow type
Synonyms	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE; SEMDK; Immunoosseous Dysplasia, Krakow Type
Disease Hierarchy	DISO4L5A: Spondyloepimetaphyseal dysplasia DIS36J1K: Spondyloepimetaphyseal dysplasia, Krakow type
Disease Identifiers	MONDO ID MONDO_0032571 UMLS CUI C4748455 OMIM ID 618162 MedGen ID 1648323

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SIK3	TTW6L4V	Limited	Unknown	[1]
SIK3	TTW6L4V	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SIK3	OTH0V1L5	Limited	Unknown	[1]
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References

1	The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling. Sci Transl Med. 2018 Sep 19;10(459):eaat9356. doi: 10.1126/scitranslmed.aat9356.