Details of Disease | DrugMAP

General Information of Disease (ID: DIS3SAPB)

Disease Name	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
Synonyms	SSASKS; SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS
Disease Hierarchy	DISYKSRF: Genetic disease DIS5PU87: Skeletal system disorder DIS3SAPB: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
Disease Identifiers	MONDO ID MONDO_0032703 UMLS CUI C5193055 OMIM ID 618363 MedGen ID 1676818

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC10A7	DTG1RJO	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC10A7	OTYLAWNV	Strong	Autosomal recessive	[1]
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References

1	Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation. Hum Mol Genet. 2018 Sep 1;27(17):3029-3045. doi: 10.1093/hmg/ddy213.