CFI, complement factor I, 3426

N. diseases: 133; N. variants: 25
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.
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
disease Finding 1 13 0.600 strong 1.000 8 13 2004 2016
MACULAR DEGENERATION, AGE-RELATED, 13
disease Disease or Syndrome 1 1 0.600 strong 1.000 2 1 2013 2013
CUI: C0860603
Disease: Anxiety symptoms
Anxiety symptoms
phenotype Sign or Symptom 110 10 0.010 None 1.000 1 2017 2017
CUI: C1112472
Disease: Aeromonas hydrophila infection
Aeromonas hydrophila infection
disease Disease or Syndrome 16 0.010 None 1.000 1 2018 2018
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy
disease Disease or Syndrome 56 67 0.010 None 1.000 1 1 2014 2014
CUI: C4087273
Disease: C3 glomerulopathy
C3 glomerulopathy
disease Disease or Syndrome 16 1 0.300 strong 1.000 1 2016 2016
CUI: C0427437
Disease: MCH - low
MCH - low
phenotype Finding 5 0.100 None 0
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia
disease Disease or Syndrome 60 14 0.100 None 0
CUI: C1260959
Disease: Drusen
Drusen
disease Disease or Syndrome 57 18 0.100 None 0
CUI: C1837512
Disease: Decreased serum complement C3
Decreased serum complement C3
phenotype Finding 12 0.100 None 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss
phenotype Finding 77 11 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase
phenotype Finding 212 9 0.100 None 0
CUI: C1851789
Disease: Poor wound healing
Poor wound healing
phenotype Finding 19 3 0.100 None 0
CUI: C1969222
Disease: Decreased serum complement factor H
Decreased serum complement factor H
phenotype Finding 4 0.100 None 0
CUI: C1970257
Disease: Decreased serum complement factor I
Decreased serum complement factor I
phenotype Finding 7 0.100 None 0
CUI: C1970263
Disease: Recurrent meningococcal disease
Recurrent meningococcal disease
phenotype Finding 5 0.100 None 0
Recurrent streptococcus pneumoniae infections
phenotype Finding 4 0.100 None 0
MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO
phenotype Finding 1 1 0.100 None 0 1
CUI: C4021636
Disease: Decreased serum complement factor B
Decreased serum complement factor B
phenotype Finding 5 0.100 None 0
Recurrent Haemophilus influenzae infections
phenotype Finding 7 0.100 None 0
Increased lactate dehydrogenase activity
phenotype Finding 27 0.100 None 0
CUI: C4554651
Disease: Generalized Edema, CTCAE
Generalized Edema, CTCAE
phenotype Finding 12 0.100 None 0
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.020 None 1.000 2 2017 2019
CUI: C0438696
Disease: Suicidal
Suicidal
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 93 29 0.010 None 1.000 1 2015 2015
CUI: C0042384
Disease: Vasculitis
Vasculitis
disease Cardiovascular Diseases Disease or Syndrome 294 24 0.110 None 1.000 1 2018 2018