BFSP1, beaded filament structural protein 1, 631

N. diseases: 16; N. variants: 1
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: C3808107
Disease: CATARACT 33, MULTIPLE TYPES
CATARACT 33, MULTIPLE TYPES
disease Disease or Syndrome 1 1 0.500 strong 1.000 3 1 2007 2017
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract
disease Eye Diseases Disease or Syndrome 69 11 0.400 None 1.000 1 2013 2013
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
disease Eye Diseases Disease or Syndrome 39 11 0.400 None 1.000 1 2013 2013
CUI: C1969644
Disease: Cataract, Cortical, Juvenile-Onset
Cataract, Cortical, Juvenile-Onset
disease Eye Diseases Disease or Syndrome 1 0.300 None 0
CUI: C1861821
Disease: CATARACT, MARNER TYPE
CATARACT, MARNER TYPE
disease Eye Diseases Disease or Syndrome 63 5 0.100 None 0
CUI: C0271160
Disease: Cortical cataract
Cortical cataract
disease Eye Diseases Disease or Syndrome 69 15 0.100 None 0
CUI: C0266537
Disease: Congenital lamellar cataract
Congenital lamellar cataract
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 18 6 0.100 None 0
Embryonal nuclear cataract (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 16 1 0.100 None 0
Cortical, lamellar, or zonular nonsenile cataract
disease Disease or Syndrome 2 0.100 None 0
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.020 None 1.000 2 2007 2007
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder)
disease Eye Diseases Disease or Syndrome 166 37 0.010 None 1.000 1 2007 2007
CUI: C0036646
Disease: Age-related cataract
Age-related cataract
disease Eye Diseases Acquired Abnormality 92 15 0.010 None 1.000 1 2005 2005
CUI: C1854311
Disease: Cataract, posterior polar, 3
Cataract, posterior polar, 3
disease Eye Diseases Disease or Syndrome 2 2 0.010 None 1.000 1 2000 2000
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2019 2019
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases Congenital Abnormality 105 104 0.010 None 1.000 1 1 2013 2013
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 2507 257 0.010 None 1.000 1 2018 2018