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THSD1 - thrombospondin type 1 domain containing 1

Synonym(s) : TMTSP
Previous symbols and names : thrombospondin, type I, domain 1
Type : gene with protein product
Chromosomal location : 13q14.3
OMIM: 616821
HGNC: 17754
UniProtKB: Q9NS62
Genatlas: -
Ensembl: ENSG00000136114
IUPHAR-DB: -
Reactome: Q9NS62
LOVD: THSD1

Diseases list

Disease-causing germline mutation(s) in Familial cerebral saccular aneurysm ORPHA:231160
Disease-causing germline mutation(s) in Non-immune hydrops fetalis ORPHA:363999

: Assessed

Gene included in a panel of genes performed as part of a diagnostic test

Additional information

Patient-centred resources for this gene

Diagnostic tests (1)

Research activities on this gene

Specialised Social Services

Eurordis directory

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