C2, complement C2, 717

N. diseases: 71; N. variants: 39
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: C3150275
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY
COMPLEMENT COMPONENT 2 DEFICIENCY 		disease Disease or Syndrome 11 4 0.770 strong 0.900 10 4 1975 2010
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		disease Disease or Syndrome 56 67 0.030 None 1.000 3 3 2012 2015
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 2 4 2018 2018
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2018 2018
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 1 1 2019 2019
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 1 2018 2018
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		phenotype Laboratory Procedure 563 1418 0.100 None 1.000 1 1 2018 2018
CUI: C0424678
Disease: Lean body mass
Lean body mass 		phenotype Clinical Attribute 144 211 0.100 None 1.000 1 1 2019 2019
CUI: C0596887
Disease: mathematical ability
mathematical ability 		phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		phenotype Laboratory Procedure 486 1243 0.100 None 1.000 1 1 2018 2018
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		disease Finding 149 527 0.100 None 1.000 1 1 2010 2010
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		phenotype Finding 147 526 0.100 None 1.000 1 1 2010 2010
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		phenotype Finding 147 526 0.100 None 1.000 1 1 2010 2010
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		phenotype Finding 147 526 0.100 None 1.000 1 1 2010 2010
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		phenotype Laboratory Procedure 55 427 0.100 None 1.000 1 1 2019 2019
CUI: C2698399
Disease: Myeloperoxidase Measurement
Myeloperoxidase Measurement 		phenotype Laboratory Procedure 15 16 0.100 None 1.000 1 1 2013 2013
CUI: C3809653
Disease: MACULAR DEGENERATION, AGE-RELATED, 14
MACULAR DEGENERATION, AGE-RELATED, 14 		disease Disease or Syndrome 2 0.300 None 0
CUI: C0021704
Disease: Intelligence
Intelligence 		phenotype Behavior and Behavior Mechanisms Mental Process 645 2093 0.100 None 1.000 1 1 2018 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.100 None 1.000 3 3 2017 2018
CUI: C4554010
Disease: Isomerism (body)
Isomerism (body) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 9 0.010 None 1.000 1 2018 2018
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 54 7 0.020 None 0.500 2 1983 1985
CUI: C1291077
Disease: Abdominal bloating
Abdominal bloating 		phenotype Digestive System Diseases Sign or Symptom 10 0.010 None 1.000 1 2019 2019
CUI: C0524909
Disease: Hepatitis B, Chronic
Hepatitis B, Chronic 		disease Digestive System Diseases; Infections Disease or Syndrome 415 84 0.010 None 1.000 1 2018 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.110 None 1.000 2 2 1984 2013
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1424 7 0.010 None 1.000 1 1984 1984