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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.080 None 1.000 8 2009 2019
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: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0391861
Disease: Plasma cell inflammation
Plasma cell inflammation
disease Disease or Syndrome 16 0.010 None 1.000 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: C0578575
Disease: Dissection of proximal aorta
Dissection of proximal aorta
disease Disease or Syndrome 26 0.010 None 1.000 1 2005 2005
CUI: C1260959
Disease: Drusen
Drusen
disease Disease or Syndrome 57 18 0.110 None 1.000 1 2016 2016
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
PNEUMOTHORAX, PRIMARY SPONTANEOUS
disease Disease or Syndrome 46 15 0.010 None 1.000 1 2012 2012
CUI: C4025272
Disease: Peripheral arterial stenosis
Peripheral arterial stenosis
disease Disease or Syndrome 124 5 0.010 None 1.000 1 2018 2018
CUI: C0037301
Disease: Skin Wrinkling
Skin Wrinkling
phenotype Finding 12 1 0.100 None 0
CUI: C0277828
Disease: Late fontanel closure
Late fontanel closure
phenotype Finding 41 0.100 None 0
CUI: C1395674
Disease: Bowel diverticulosis
Bowel diverticulosis
disease Disease or Syndrome 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: 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: 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: C4025871
Disease: Abnormality of the face
Abnormality of the face
phenotype Anatomical Abnormality 31 24 0.100 None 0
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.020 None 1.000 2 2004 2015
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal
disease Cardiovascular Diseases Disease or Syndrome 586 90 0.020 None 0.500 2 2010 2016
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta
disease Cardiovascular Diseases Disease or Syndrome 152 16 0.020 None 1.000 2 2005 2019
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm
disease Cardiovascular Diseases Disease or Syndrome 278 19 0.110 None 1.000 1 2020 2020
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.300 None 1.000 1 2002 2002