SMAD2, SMAD family member 2, 4087

N. diseases: 289; N. variants: 8
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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.100 None 1.000 27 1999 2020
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.100 None 1.000 10 1999 2019
Familial thoracic aortic aneurysm and aortic dissection
disease Disease or Syndrome 59 442 0.500 moderate 1.000 6 1996 2015
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis
disease Disease or Syndrome 297 3 0.050 None 1.000 5 2006 2020
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis
phenotype Disease or Syndrome 328 0.030 None 1.000 3 2018 2018
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
disease Disease or Syndrome 49 13 0.020 None 1.000 2 2009 2019
CUI: C4020848
Disease: Aneurysmal disease
Aneurysmal disease
disease Disease or Syndrome 14 0.020 None 1.000 2 2013 2019
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
disease Neoplastic Process 573 14 0.010 None 1.000 1 2014 2014
CUI: C0744669
Disease: Complex congenital heart disease
Complex congenital heart disease
disease Disease or Syndrome 7 1 0.010 None 1.000 1 2018 2018
CUI: C0857516
Disease: Floppy
Floppy
phenotype Sign or Symptom 7 0.010 None 1.000 1 2016 2016
Familial pulmonary arterial hypertension
disease Disease or Syndrome 12 1 0.010 None 1.000 1 2008 2008
CUI: C1704376
Disease: Uterine Corpus Carcinosarcoma
Uterine Corpus Carcinosarcoma
disease Neoplastic Process 33 0.010 None 1.000 1 2012 2012
CUI: C1840264
Disease: IMMUNE SUPPRESSION
IMMUNE SUPPRESSION
phenotype Disease or Syndrome 222 3 0.010 None 1.000 1 2018 2018
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
PNEUMOTHORAX, PRIMARY SPONTANEOUS
disease Disease or Syndrome 46 15 0.010 None 1.000 1 2018 2018
Oestrogen receptor positive breast cancer
disease Neoplastic Process 510 58 0.010 None 1.000 1 2019 2019
CUI: C3669246
Disease: Mammary adenocarcinoma
Mammary adenocarcinoma
disease Neoplastic Process 29 0.010 None 1.000 1 2013 2013
Nonnuclear polymorphic congenital cataract
disease Congenital Abnormality 71 0.010 None 1.000 1 2014 2014
Wet age-related macular degeneration
disease Disease or Syndrome 20 2 0.010 None 1.000 1 2017 2017
CUI: C4048329
Disease: Immunosuppression
Immunosuppression
disease Disease or Syndrome 632 9 0.010 None 1.000 1 2018 2018
CUI: C0344315
Disease: Depressed mood
Depressed mood
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2019 2019
CUI: C1314691
Disease: Age at menarche
Age at menarche
phenotype Behavior and Behavior Mechanisms Finding 267 591 0.100 None 1.000 1 1 2019 2019
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm
disease Cardiovascular Diseases Disease or Syndrome 278 19 0.020 None 1.000 2 2011 2017
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.020 None 1.000 2 2018 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.020 None 1.000 2 2018 2020
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases
group Cardiovascular Diseases Disease or Syndrome 688 40 0.020 None 1.000 2 2007 2018