SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 Biomarker disease CTD_human
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH 		0.800 Biomarker disease CTD_human
CUI: C1868081
Disease: Juvenile Polyposis Coli
Juvenile Polyposis Coli 		0.800 Biomarker disease CTD_human
CUI: C1832942
Disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) 		0.760 CausalMutation disease CLINVAR
CUI: C1832942
Disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) 		0.760 Biomarker disease CTD_human
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 GeneticVariation disease UNIPROT
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.700 CausalMutation disease CGI
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.700 Biomarker disease CTD_human
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.700 GenomicAlterations disease CGI
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.700 Biomarker disease HPO
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.700 GeneticVariation disease UNIPROT
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.700 GenomicAlterations disease CGI
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.700 CausalMutation disease CGI
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.700 CausalMutation disease CLINVAR
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.600 GenomicAlterations disease CGI
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.600 CausalMutation disease CGI
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.600 Biomarker disease CTD_human
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.420 Biomarker disease HPO
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.400 Biomarker disease HPO
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.400 Biomarker disease HPO
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		0.320 Biomarker group HPO
CUI: C3714239
Disease: Bmpr1a-Related Juvenile Polyposis
Bmpr1a-Related Juvenile Polyposis 		0.310 Biomarker disease CTD_human
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.300 Biomarker group GENOMICS_ENGLAND