FBLN5, fibulin 5, 10516

N. diseases: 150; N. variants: 20
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: C0010495
Disease: Cutis Laxa
Cutis Laxa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 70 21 0.700 limited 1.000 15 5 2002 2018
CUI: C0268351
Disease: Cutis Laxa, Autosomal Recessive, Type I
Cutis Laxa, Autosomal Recessive, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 2 5 0.700 strong 1.000 8 5 2002 2013
CUI: C0268350
Disease: Cutis Laxa, Autosomal Dominant
Cutis Laxa, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 3 0.500 None 1.000 1 2003 2003
CUI: C4225406
Disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION 		disease Disease or Syndrome 1 12 0.400 None 1.000 6 12 2004 2013
CUI: C0013990
Disease: Pathological accumulation of air in tissues
Pathological accumulation of air in tissues 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 69 6 0.400 None 1.000 1 2002 2002
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.400 None 1.000 1 2002 2002
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease Eye Diseases Disease or Syndrome 685 663 0.370 limited 0.857 7 5 2004 2016
CUI: C2931134
Disease: Cutis laxa, recessive
Cutis laxa, recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 1 0.320 None 1.000 3 2002 2009
CUI: C0432336
Disease: Cutis laxa, recessive, type I
Cutis laxa, recessive, type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 2 0.300 None 1.000 1 2013 2013
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 688 40 0.300 None 1.000 1 2002 2002
CUI: C0018801
Disease: Heart failure
Heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.300 None 1.000 1 2002 2002
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.300 None 1.000 1 2007 2007
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.300 None 1.000 1 2007 2007
CUI: C0023212
Disease: Left-Sided Heart Failure
Left-Sided Heart Failure 		disease Cardiovascular Diseases Disease or Syndrome 123 5 0.300 None 1.000 1 2002 2002
CUI: C1959583
Disease: Myocardial Failure
Myocardial Failure 		disease Cardiovascular Diseases Disease or Syndrome 119 0.300 None 1.000 1 2002 2002
CUI: C0235063
Disease: Respiratory Depression
Respiratory Depression 		phenotype Respiratory Tract Diseases Pathologic Function 24 5 0.300 None 1.000 1 2002 2002
CUI: C0235527
Disease: Heart Failure, Right-Sided
Heart Failure, Right-Sided 		disease Cardiovascular Diseases Disease or Syndrome 154 0.300 None 1.000 1 2002 2002
CUI: C0041912
Disease: Upper Respiratory Infections
Upper Respiratory Infections 		group Infections; Respiratory Tract Diseases Disease or Syndrome 64 6 0.300 None 1.000 1 2002 2002
CUI: C0035243
Disease: Respiratory Tract Infections
Respiratory Tract Infections 		group Infections; Respiratory Tract Diseases Disease or Syndrome 187 10 0.300 None 1.000 1 2002 2002
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease Respiratory Tract Diseases Disease or Syndrome 319 23 0.300 None 1.000 1 2002 2002
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype Respiratory Tract Diseases Pathologic Function 315 15 0.300 None 1.000 1 2002 2002
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		disease Respiratory Tract Diseases Disease or Syndrome 434 60 0.300 None 1.000 1 2014 2014
CUI: C1961112
Disease: Heart Decompensation
Heart Decompensation 		phenotype Cardiovascular Diseases Pathologic Function 113 0.300 None 1.000 1 2002 2002
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension 		phenotype Respiratory Tract Diseases Pathologic Function 156 0.300 None 1.000 1 2002 2002
CUI: C1837187
Disease: MACULAR DEGENERATION, AGE-RELATED, 3
MACULAR DEGENERATION, AGE-RELATED, 3 		disease Eye Diseases Disease or Syndrome 1 0.300 None 0