SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 270 139 0.030 None 0.667 3 2000 2018
CUI: C0023418
Disease: leukemia
leukemia 		disease Neoplasms Neoplastic Process 2111 144 0.030 None 1.000 3 2001 2014
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.130 None 1.000 3 2013 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.030 None 1.000 3 1997 2016
CUI: C0151650
Disease: Renal fibrosis
Renal fibrosis 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 570 1 0.030 None 1.000 3 2011 2018
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 877 43 0.320 None 0.667 3 1 2006 2018
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.030 None 0.667 3 2014 2015
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		disease Neoplasms Neoplastic Process 767 118 0.030 None 1.000 3 2009 2017
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon 		disease Digestive System Diseases; Neoplasms Neoplastic Process 406 10 0.030 None 1.000 3 2004 2018
CUI: C0410000
Disease: Overlap syndrome
Overlap syndrome 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 57 2 0.030 None 1.000 3 2005 2012
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1286 214 0.030 None 1.000 3 1996 2015
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.030 None 1.000 3 1997 2016
CUI: C0878500
Disease: Intraepithelial Neoplasia
Intraepithelial Neoplasia 		disease Neoplasms Neoplastic Process 186 0.030 None 1.000 3 2000 2016
CUI: C0887833
Disease: Carcinoma, Pancreatic Ductal
Carcinoma, Pancreatic Ductal 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 82 0.030 None 1.000 3 2001 2004
CUI: C1176475
Disease: Ductal Carcinoma
Ductal Carcinoma 		disease Neoplasms Neoplastic Process 273 11 0.030 None 1.000 3 2000 2018
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		disease Neoplasms Neoplastic Process 1740 140 0.030 None 1.000 3 2001 2014
CUI: C1527349
Disease: Ductal Breast Carcinoma
Ductal Breast Carcinoma 		disease Neoplasms Neoplastic Process 196 10 0.030 None 1.000 3 2014 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.030 None 1.000 3 2004 2013
CUI: C2987145
Disease: Pancreatic Intraepithelial Neoplasia-3
Pancreatic Intraepithelial Neoplasia-3 		disease Neoplastic Process 19 0.030 None 0.667 3 2000 2004
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 776 24 0.420 None 1.000 3 2008 2018
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		disease Neoplasms Neoplastic Process 786 118 0.030 None 1.000 3 2009 2017
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.030 None 1.000 3 1997 2016
CUI: C4284013
Disease: Primary cholangiocarcinoma of intrahepatic biliary tract
Primary cholangiocarcinoma of intrahepatic biliary tract 		disease Neoplasms Neoplastic Process 274 10 0.030 None 1.000 3 2013 2019
CUI: C4511687
Disease: Pancreatic Intraductal Papillary Mucinous Neoplasm
Pancreatic Intraductal Papillary Mucinous Neoplasm 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 84 8 0.030 None 1.000 3 2000 2009
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2113 316 0.020 None 1.000 2 2012 2018