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: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta 		phenotype Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 34 16 0.100 None 0
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 106 40 0.100 None 0
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Finding 42 1 0.100 None 0
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 239 31 0.100 None 0
CUI: C2673776
Disease: Vascular tortuosity
Vascular tortuosity 		phenotype Finding 2 1 0.100 None 0
CUI: C0156273
Disease: Bladder Diverticulum
Bladder Diverticulum 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Acquired Abnormality 18 0.100 None 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		phenotype Musculoskeletal Diseases Pathologic Function 224 15 0.100 None 0
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 129 21 0.100 None 0
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: 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: C0038449
Disease: Stricture of artery
Stricture of artery 		phenotype Cardiovascular Diseases Pathologic Function 16 0.100 None 0
CUI: C0037301
Disease: Skin Wrinkling
Skin Wrinkling 		phenotype Finding 12 1 0.100 None 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.100 None 0
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		phenotype Cardiovascular Diseases Pathologic Function 94 11 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: C1866231
Disease: Full cheeks
Full cheeks 		phenotype Finding 103 4 0.100 None 0
CUI: C0277828
Disease: Late fontanel closure
Late fontanel closure 		phenotype Finding 41 0.100 None 0
CUI: C1258215
Disease: Ileus
Ileus 		disease Digestive System Diseases Disease or Syndrome 20 0.100 None 0
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		disease Nervous System Diseases Disease or Syndrome 94 12 0.100 None 0
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality 19 15 0.100 None 0 1
CUI: C2315541
Disease: Diverticulum of renal calyx
Diverticulum of renal calyx 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 2 0.100 None 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 235 0.100 None 0
CUI: C1395674
Disease: Bowel diverticulosis
Bowel diverticulosis 		disease Disease or Syndrome 5 0.100 None 0
CUI: C0600518
Disease: Choroidal Neovascularization
Choroidal Neovascularization 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Pathologic Function 31 3 0.100 None 0