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: C0024115
Disease: Lung diseases
Lung diseases
group Respiratory Tract Diseases Disease or Syndrome 700 50 0.300 limited 0
CUI: C0033377
Disease: Ptosis
Ptosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 607 12 0.120 None 1.000 2 2010 2015
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm
disease Cardiovascular Diseases Disease or Syndrome 278 19 0.110 None 1.000 1 2020 2020
CUI: C1260959
Disease: Drusen
Drusen
disease Disease or Syndrome 57 18 0.110 None 1.000 1 2016 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 10 2008 2019
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
phenotype Clinical Attribute 507 1037 0.100 None 1.000 1 1 2019 2019
CUI: C1258215
Disease: Ileus
Ileus
disease Digestive System Diseases Disease or Syndrome 20 0.100 None 0
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease Cardiovascular Diseases Disease or Syndrome 106 40 0.100 None 0
CUI: C2673776
Disease: Vascular tortuosity
Vascular tortuosity
phenotype Finding 2 1 0.100 None 0
CUI: C3277184
Disease: Decreased patellar reflex
Decreased patellar reflex
phenotype Finding 8 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: C0277828
Disease: Late fontanel closure
Late fontanel closure
phenotype Finding 41 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: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype Finding 181 12 0.100 None 0
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate
phenotype Finding 123 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: C4025871
Disease: Abnormality of the face
Abnormality of the face
phenotype Anatomical Abnormality 31 24 0.100 None 0
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0
CUI: C1866231
Disease: Full cheeks
Full cheeks
phenotype Finding 103 4 0.100 None 0
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype Finding 103 93 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: 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