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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.100 Biomarker disease HPO
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		0.300 Biomarker phenotype GENOMICS_ENGLAND Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. 29650961 2018
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.100 Biomarker phenotype HPO
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.100 Biomarker phenotype HPO
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		0.100 Biomarker phenotype HPO
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		0.100 Biomarker disease HPO
CUI: C4021738
Disease: Abnormality of the pubic bone
Abnormality of the pubic bone 		0.100 Biomarker phenotype HPO
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		0.100 Biomarker disease HPO
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice 		0.100 Biomarker disease HPO
CUI: C0151463
Disease: Abscess of breast
Abscess of breast 		0.010 Biomarker disease BEFREE Squamous cell carcinoma and mammary abscess formation through squamous metaplasia in Smad4/Dpc4 conditional knockout mice. 14597578 2003
CUI: C0267756
Disease: Abscess of peritoneum
Abscess of peritoneum 		0.100 Biomarker phenotype HPO
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		0.100 Biomarker disease HPO
CUI: C0022602
Disease: Actinic keratosis
Actinic keratosis 		0.020 Biomarker disease BEFREE For Smad4, statistical difference was observed only in SCC samples (p=0.014), but not in BCC and AK samples (p=0.173 and 0.314, respectively). 22301403 2012
CUI: C0022602
Disease: Actinic keratosis
Actinic keratosis 		0.020 Biomarker disease BEFREE Further, immunostaining revealed that the presence of Smad4 protein is associated with the presence of Snail and Ercc1 proteins in human skin SCC and precancerous actinic keratoses. 23648546 2013
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.010 AlteredExpression disease BEFREE Three cases showed K-ras mutation and/or loss of SMAD4 expression in benign AIP-like areas. 24457081 2014
CUI: C1279945
Disease: Acute interstitial pneumonia
Acute interstitial pneumonia 		0.010 AlteredExpression disease BEFREE Three cases showed K-ras mutation and/or loss of SMAD4 expression in benign AIP-like areas. 24457081 2014
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		0.010 Biomarker disease BEFREE Proteolytic degradation of Smad4 in extracts of AML blasts. 12443883 2002
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		0.010 Biomarker disease BEFREE These findings indicated that miR-146a played an important role in the development of APL in part through the repression on Smad4 protein expression. miR-146a functioned as an oncogene and may be a novel prognostic biomarker in APL. 25161335 2014
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.100 Biomarker group BEFREE Inactivation of the tumor suppressor gene DPC4 and other components of the TGF-beta signal cascades may abolish one of the key negative controls of cell proliferation in pancreatic adenocarcinomas. 9307274 1997
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.100 GeneticVariation group BEFREE These results suggest that carcinogenesis in the biliary tract epithelium in APBDU is accompanied by multistep genetic mutational events; K-ras gene mutation occurs early in epithelial hyperplasia or metaplasia, whereas inactivation of the DPC-4 gene accumulates late in the progression of biliary tract adenocarcinoma. 12720172 2003
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.100 GeneticVariation group LHGDN Orthotopic transplantation models of pancreatic adenocarcinoma derived from cell lines and primary tumors and displaying varying metastatic activity. 15367885 2004
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.100 AlteredExpression group BEFREE Patients with pancreatic adenocarcinomas with SMAD4 protein expression had significantly longer survival (unadjusted median survival was 19.2 months as compared with 14.7 months in patients with pancreatic cancers lacking SMAD4 protein expression; P = 0.03). 11751510 2001
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.100 GeneticVariation group BEFREE Immunohistochemical labeling revealed that 17 (94%) of the 18 primary adenocarcinomas with wild-type DPC4 genes expressed the DPC4 gene product, whereas 21 (91%) of 23 primary adenocarcinomas with inactivated DPC4 genes did not. 10623651 2000
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.100 Biomarker group BEFREE Expression of a dominant-negative Smad4 construct in the adenocarcinoma cell line PANC-1 led to increased ubiquitination and proteasomal degradation of beta-catenin. 18310088 2008
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.100 AlteredExpression group BEFREE Mutations in KRAS, P16/CDKN2A, TP53, and SMAD4/DPC4 are commonly seen in ductal neoplasia but not in nonductal tumors; ductal adenocarcinomas with SMAD4/DPC4 loss are associated with widespread metastasis and poor prognosis. 24436263 2014