CDKN2B, cyclin dependent kinase inhibitor 2B, 1030

N. diseases: 440; N. variants: 13
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: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		disease Anatomical Abnormality 83 20 0.010 None 1.000 1 2018 2018
CUI: C4020848
Disease: Aneurysmal disease
Aneurysmal disease 		disease Disease or Syndrome 14 0.010 None 1.000 1 2013 2013
CUI: C4285890
Disease: Carotid artery calcification
Carotid artery calcification 		disease Disease or Syndrome 5 3 0.010 None 1.000 1 2016 2016
CUI: C4288891
Disease: Infant T Acute Lymphoblastic Leukemia
Infant T Acute Lymphoblastic Leukemia 		disease Neoplastic Process 75 1 0.010 None 1.000 1 2019 2019
CUI: C4331269
Disease: Sacral Chordoma
Sacral Chordoma 		disease Neoplastic Process 10 0.010 None 1.000 1 2012 2012
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		phenotype Sign or Symptom 116 7 0.100 None 0
CUI: C0857973
Disease: Elevated circulating parathyroid hormone level
Elevated circulating parathyroid hormone level 		phenotype Finding 18 1 0.100 None 0
CUI: C1295677
Disease: Increased glucagon level
Increased glucagon level 		phenotype Finding 6 0.100 None 0
CUI: C1851705
Disease: Confetti-like hypopigmented macules
Confetti-like hypopigmented macules 		phenotype Finding 8 0.100 None 0
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE 		phenotype Finding 108 0.100 None 0
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		phenotype Finding 137 0.100 None 0
CUI: C4021976
Disease: Abnormality of the lymphatic system
Abnormality of the lymphatic system 		disease Anatomical Abnormality 16 0.100 None 0
CUI: C4025651
Disease: Increased circulating cortisol level
Increased circulating cortisol level 		phenotype Finding 11 0.100 None 0
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.500 None 1.000 17 3 2008 2019
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.100 None 0.900 10 1 2007 2019
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.360 None 1.000 7 2008 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.050 None 1.000 5 2010 2016
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.050 None 1.000 5 1 2012 2019
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.040 None 1.000 4 2014 2016
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		disease Cardiovascular Diseases Disease or Syndrome 278 19 0.020 None 1.000 2 2009 2013
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		disease Cardiovascular Diseases Disease or Syndrome 586 90 0.020 None 1.000 2 2011 2017
CUI: C0002949
Disease: Aneurysm, Dissecting
Aneurysm, Dissecting 		disease Cardiovascular Diseases Disease or Syndrome 33 4 0.010 None 1.000 1 2010 2010
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases 		group Cardiovascular Diseases Disease or Syndrome 43 2 0.010 None 1.000 1 2013 2013
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 2009 2009
CUI: C0340629
Disease: Aortic aneurysm without mention of rupture NOS
Aortic aneurysm without mention of rupture NOS 		disease Cardiovascular Diseases Disease or Syndrome 100 4 0.010 None 1.000 1 2009 2009