FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
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: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.300 None 0.971 34 1980 2013
CUI: C1855520
Disease: Hyperglycemia, Postprandial
Hyperglycemia, Postprandial 		phenotype Nutritional and Metabolic Diseases Finding 37 0.300 None 1.000 1 2010 2010
CUI: C0741160
Disease: Aortic Aneurysm, Ruptured
Aortic Aneurysm, Ruptured 		disease Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 13 1 0.300 None 1.000 1 2008 2008
CUI: C0014175
Disease: Endometriosis
Endometriosis 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1188 274 0.300 None 1.000 1 2011 2011
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.300 None 1.000 1 2010 2010
CUI: C1257963
Disease: Endogenous Hyperinsulinism
Endogenous Hyperinsulinism 		disease Nutritional and Metabolic Diseases Disease or Syndrome 26 0.300 None 1.000 1 2010 2010
CUI: C1257965
Disease: Compensatory Hyperinsulinemia
Compensatory Hyperinsulinemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 30 2 0.300 None 1.000 1 2010 2010
CUI: C1257964
Disease: Exogenous Hyperinsulinism
Exogenous Hyperinsulinism 		disease Nutritional and Metabolic Diseases Disease or Syndrome 26 0.300 None 1.000 1 2010 2010
CUI: C0269102
Disease: Endometrioma
Endometrioma 		disease Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 279 4 0.300 None 1.000 1 2011 2011
CUI: C0340630
Disease: Aortic Aneurysm, Thoracoabdominal
Aortic Aneurysm, Thoracoabdominal 		disease Cardiovascular Diseases Disease or Syndrome 11 0.300 None 1.000 1 2011 2011
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.300 None 1.000 1 2014 2014
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.300 None 1.000 1 2016 2016
CUI: C2931588
Disease: GEMSS syndrome
GEMSS syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 1 0.300 None 0
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 86 6 0.300 None 0
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		group Skin and Connective Tissue Diseases Disease or Syndrome 188 24 0.200 None 1.000 38 2 1993 2020
CUI: C0029607
Disease: Other emphysema
Other emphysema 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 20 0.200 None 1.000 20 1980 2001
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		disease Cardiovascular Diseases Disease or Syndrome 278 19 0.200 None 1.000 12 8 1997 2020
CUI: C0265004
Disease: Dilatation of aorta
Dilatation of aorta 		phenotype Cardiovascular Diseases Disease or Syndrome 39 2 0.200 None 0.909 11 1 2008 2018
CUI: C0017658
Disease: Glomerulonephritis
Glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 391 7 0.200 None 1.000 2 2006 2006
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis 		disease Disease or Syndrome 297 3 0.200 None 1.000 1 2005 2005
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 522 0.200 None 1.000 1 2006 2006
CUI: C0221238
Disease: Mesangial proliferative glomerulonephritis
Mesangial proliferative glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 37 0.200 None 1.000 1 2014 2014
CUI: C0160390
Disease: Injury of liver
Injury of liver 		disease Digestive System Diseases; Wounds and Injuries Injury or Poisoning 36 0.200 None 1.000 1 2013 2013
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		group Cardiovascular Diseases Disease or Syndrome 537 45 0.200 None 0
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		disease Cardiovascular Diseases Disease or Syndrome 152 16 0.190 None 1.000 9 10 2009 2020