C1QBP, complement C1q binding protein, 708

N. diseases: 111; N. variants: 9
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.
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
disease Disease or Syndrome 1 6 0.600 strong 1.000 1 6 2017 2017
CUI: C0206602
Disease: Circovirus Infections
Circovirus Infections
disease Infections Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C0949056
Disease: Infection caused by Coxiella
Infection caused by Coxiella
disease Infections Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
CUI: C4068858
Disease: Avascular retina
Avascular retina
disease Disease or Syndrome 19 0.010 None 1.000 1 2017 2017
CUI: C0005686
Disease: Urinary Bladder Diseases
Urinary Bladder Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 24 0.010 None 1.000 1 2013 2013
CUI: C0040963
Disease: Tricuspid Valve Stenosis
Tricuspid Valve Stenosis
disease Cardiovascular Diseases Disease or Syndrome 26 1 0.010 None 1.000 1 2017 2017
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome 32 9 0.010 None 1.000 1 2017 2017
Intestinal metaplasia of gastric mucosa
disease Digestive System Diseases; Neoplasms Neoplastic Process 35 1 0.010 None 1.000 1 2005 2005
Chronic progressive external ophthalmoplegia
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 50 13 0.110 None 1.000 1 2017 2017
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance
phenotype Finding 76 7 0.100 None 0
CUI: C0038826
Disease: Superinfection
Superinfection
group Infections Disease or Syndrome 85 0.010 None 1.000 1 2017 2017
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 85 29 0.100 None 0
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis
phenotype Nutritional and Metabolic Diseases Pathologic Function 85 0.100 None 0
CUI: C0040053
Disease: Thrombosis
Thrombosis
phenotype Cardiovascular Diseases Pathologic Function 98 0.010 None 1.000 1 2003 2003
CUI: C0346990
Disease: Carcinomatosis of peritoneal cavity
Carcinomatosis of peritoneal cavity
disease Digestive System Diseases; Neoplasms Neoplastic Process 107 3 0.010 None 1.000 1 2017 2017
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 129 21 0.100 None 0
Muscular Dystrophy, Facioscapulohumeral
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 143 3 0.010 None 1.000 1 2019 2019
CUI: C0004106
Disease: Astigmatism
Astigmatism
disease Eye Diseases Disease or Syndrome 148 45 0.100 None 0
CUI: C0206650
Disease: Fibroadenoma
Fibroadenoma
disease Neoplasms Neoplastic Process 151 1 0.010 None 1.000 1 2004 2004
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
disease Hemic and Lymphatic Diseases Disease or Syndrome 161 43 0.010 None 1.000 1 2014 2014
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
phenotype Nutritional and Metabolic Diseases Finding 169 2 0.100 None 0
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 177 63 0.010 None 1.000 1 2017 2017
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
group Nervous System Diseases Disease or Syndrome 189 17 0.010 None 1.000 1 2017 2017
Creatine phosphokinase serum increased
phenotype Finding 228 43 0.100 None 0
Respiratory Syncytial Virus Infections
group Infections Disease or Syndrome 244 5 0.010 None 1.000 1 2017 2017