Details of Disease | DrugMAP

General Information of Disease (ID: DISV6KRJ)

Disease Name	Nephrolithiasis susceptibility caused by SLC26A1
Synonyms	CAON; nephrolithiasis, calcium oxalate; urolithiasis, calcium oxalate
Disease Hierarchy	DIS98MYE: Inherited disease susceptibility DIS5J79C: Nephrolithiasis, calcium oxalate DISV6KRJ: Nephrolithiasis susceptibility caused by SLC26A1
Disease Identifiers	MONDO ID MONDO_0020722 UMLS CUI C5779632 OMIM ID 167030 MedGen ID 1830325

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
SLC26A1	DTJ785O	Moderate	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
SLC26A1	OTBJVDTD	Moderate	Autosomal recessive	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.