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: C0600518
Disease: Choroidal Neovascularization
Choroidal Neovascularization
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Pathologic Function 31 3 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
MACULAR DEGENERATION, AGE-RELATED, 3
disease Eye Diseases Disease or Syndrome 1 0.300 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: C1847584
Disease: Distal sensory impairment
Distal sensory impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.100 None 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease Disease or Syndrome 106 7 0.100 None 0
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype Finding 103 93 0.100 None 0
CUI: C1866231
Disease: Full cheeks
Full cheeks
phenotype Finding 103 4 0.100 None 0
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease Cardiovascular Diseases Disease or Syndrome 106 40 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: C0086437
Disease: Joint laxity
Joint laxity
phenotype Musculoskeletal Diseases Pathologic Function 224 15 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: 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: 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: 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: 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: C0427065
Disease: Distal muscle weakness
Distal muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 117 16 0.100 None 0
CUI: C1258215
Disease: Ileus
Ileus
disease Digestive System Diseases Disease or Syndrome 20 0.100 None 0
CUI: C0277828
Disease: Late fontanel closure
Late fontanel closure
phenotype Finding 41 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