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SMAD4 - SMAD family member 4
- Synonym(s) : DPC4
- Previous symbols and names : MAD, mothers against decapentaplegic homolog 4 (Drosophila), MADH4, SMAD, mothers against DPP homolog 4 (Drosophila)
- Type : gene with protein product
- Chromosomal location : 18q21.2
- OMIM: 600993
- HGNC: 6770
- UniProtKB: Q13485
- Genatlas: SMAD4
- GenCC: SMAD4
- Ensembl: ENSG00000141646
- IUPHAR-DB: -
- Reactome: Q13485
- LOVD: SMAD4
Diseases list
- Disease-causing germline mutation(s) in Familial thoracic aortic aneurysm and aortic dissection
ORPHA:91387 
- Disease-causing germline mutation(s) in Generalized juvenile polyposis/juvenile polyposis coli
ORPHA:329971 - Disease-causing germline mutation(s) in Hereditary hemorrhagic telangiectasia
ORPHA:774 - Disease-causing germline mutation(s) in Myhre syndrome
ORPHA:2588 - Major susceptibility factor in Familial pancreatic carcinoma
ORPHA:1333
: AssessedAdditional information
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