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: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 187 23 0.100 None 0
CUI: C2673776
Disease: Vascular tortuosity
Vascular tortuosity
phenotype Finding 2 1 0.100 None 0
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases
group Cardiovascular Diseases Disease or Syndrome 688 40 0.300 None 1.000 1 2002 2002
CUI: C0042140
Disease: Uterine Prolapse
Uterine Prolapse
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Anatomical Abnormality 12 0.010 None 1.000 1 2010 2010
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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
disease Digestive System Diseases Disease or Syndrome 1458 827 0.010 None 1.000 1 2009 2009
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.080 None 1.000 8 2009 2019
CUI: C1519670
Disease: Tumor Angiogenesis
Tumor Angiogenesis
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 822 5 0.020 None 1.000 2 2006 2008
CUI: C0039273
Disease: Talipes cavus
Talipes cavus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 213 2 0.100 None 0
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis
disease Cardiovascular Diseases Disease or Syndrome 23 38 0.100 None 0
CUI: C0038449
Disease: Stricture of artery
Stricture of artery
phenotype Cardiovascular Diseases Pathologic Function 16 0.100 None 0
CUI: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax
disease Respiratory Tract Diseases Disease or Syndrome 30 6 0.010 None 1.000 1 2012 2012
CUI: C0037301
Disease: Skin Wrinkling
Skin Wrinkling
phenotype Finding 12 1 0.100 None 0
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm
group Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2492 85 0.010 None 1.000 1 2013 2013
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0
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: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
phenotype Respiratory Tract Diseases Pathologic Function 315 15 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
Respiratory Distress Syndrome, Adult
disease Respiratory Tract Diseases Disease or Syndrome 434 60 0.300 None 1.000 1 2014 2014
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 259 16 0.100 None 0
CUI: C0235063
Disease: Respiratory Depression
Respiratory Depression
phenotype Respiratory Tract Diseases Pathologic Function 24 5 0.300 None 1.000 1 2002 2002
CUI: C0581342
Disease: Redundant skin
Redundant skin
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Pathologic Function 48 2 0.100 None 0
CUI: C0262655
Disease: Recurrent urinary tract infection
Recurrent urinary tract infection
disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 237 21 0.100 None 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections
phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
CUI: C0034888
Disease: Rectal Prolapse
Rectal Prolapse
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 46 1 0.010 None 1.000 1 2015 2015