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: C1832942
Disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 1 23 0.760 strong 0.909 11 23 2004 2019
CUI: C0151463
Disease: Abscess of breast
Abscess of breast 		disease Pathological Conditions, Signs and Symptoms; Infections; Skin and Connective Tissue Diseases; Respiratory Tract Diseases Disease or Syndrome 1 0.010 None 1.000 1 2003 2003
CUI: C0865573
Disease: Mitral disease
Mitral disease 		disease Disease or Syndrome 1 0.010 None 1.000 1 2011 2011
CUI: C4025303
Disease: Enlarged vertebral pedicles
Enlarged vertebral pedicles 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C1302645
Disease: Polyp of small intestine
Polyp of small intestine 		disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality 2 0.010 None < 0.001 1 2009 2009
CUI: C3714239
Disease: Bmpr1a-Related Juvenile Polyposis
Bmpr1a-Related Juvenile Polyposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 2 0.310 None 1.000 1 2005 2005
CUI: C3714240
Disease: Smad4-Related Juvenile Polyposis
Smad4-Related Juvenile Polyposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 2 0.300 None 0
CUI: C4025294
Disease: Juvenile gastrointestinal polyposis
Juvenile gastrointestinal polyposis 		disease Disease or Syndrome 2 0.100 None 0
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 3 7 0.800 None 1.000 16 7 2010 2020
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 3 0.800 definitive 1.000 9 1998 2015
CUI: C1840321
Disease: HYPOPHOSPHATEMIC BONE DISEASE
HYPOPHOSPHATEMIC BONE DISEASE 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 3 0.010 None 1.000 1 2002 2002
CUI: C1856716
Disease: Follicle-stimulating hormone deficiency, isolated
Follicle-stimulating hormone deficiency, isolated 		disease Male Urogenital Diseases Disease or Syndrome 3 5 0.010 None 1.000 1 2018 2018
CUI: C0426489
Disease: Gingival cleft
Gingival cleft 		phenotype Stomatognathic Diseases Finding 3 0.100 None 0
CUI: C3805639
Disease: Generalized muscle hypertrophy
Generalized muscle hypertrophy 		phenotype Finding 3 0.100 None 0
CUI: C3806280
Disease: Laryngotracheal stenosis
Laryngotracheal stenosis 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Finding 3 0.100 None 0
CUI: C0221219
Disease: Ectopic pancreas
Ectopic pancreas 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 4 0.010 None 1.000 1 2017 2017
CUI: C0347266
Disease: Polyp of duodenum
Polyp of duodenum 		disease Digestive System Diseases Neoplastic Process 4 0.010 None 1.000 1 1999 1999
CUI: C1370800
Disease: Bile duct adenocarcinoma
Bile duct adenocarcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2003 2003
CUI: C2004491
Disease: Cicatrix
Cicatrix 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 4 2 0.200 None 1.000 1 2011 2011
CUI: C2931039
Disease: Pancreatic islet cell tumors
Pancreatic islet cell tumors 		disease Neoplasms Disease or Syndrome 4 0.010 None 1.000 1 1999 1999
CUI: C2987188
Disease: Pancreatic Intraductal Neoplasms
Pancreatic Intraductal Neoplasms 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 4 0.010 None 1.000 1 2011 2011
CUI: C3277418
Disease: Gastrointestinal hamartomatous polyps
Gastrointestinal hamartomatous polyps 		disease Neoplastic Process 4 0.010 None 1.000 1 2015 2015
CUI: C4748670
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		disease Disease or Syndrome 4 15 0.010 None 1.000 1 2019 2019
CUI: C0241790
Disease: Congenital pulmonary arteriovenous malformation
Congenital pulmonary arteriovenous malformation 		disease Respiratory Tract Diseases Congenital Abnormality 4 0.100 None 0
CUI: C1857690
Disease: Pulmonary arteriovenous malformation
Pulmonary arteriovenous malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 4 1 0.100 None 0