MEFV, MEFV innate immuity regulator, pyrin, 4210

N. diseases: 410; N. variants: 72
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: C0031048
Disease: Pericarditis, Constrictive
Pericarditis, Constrictive
disease Cardiovascular Diseases Disease or Syndrome 8 1 0.010 None 1.000 1 1 2011 2011
CUI: C0027341
Disease: Nail-Patella Syndrome
Nail-Patella Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 38 18 0.010 None 1.000 1 2007 2007
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.010 None 1.000 1 2000 2000
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 827 60 0.010 None 1.000 1 2012 2012
CUI: C0027059
Disease: Myocarditis
Myocarditis
disease Cardiovascular Diseases Disease or Syndrome 285 2 0.010 None 1.000 1 2017 2017
Nasal Type Extranodal NK/T-Cell Lymphoma
disease Neoplasms Neoplastic Process 53 0.010 None 1.000 1 2011 2011
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome 336 93 0.010 None 1.000 1 2016 2016
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 320 25 0.010 None 1.000 1 2005 2005
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder
group Immune System Diseases Disease or Syndrome 93 23 0.010 None 1.000 1 2016 2016
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
disease Digestive System Diseases Disease or Syndrome 1058 222 0.010 None 1.000 1 2017 2017
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 593 24 0.010 None 1.000 1 2018 2018
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 179 70 0.010 None 1.000 1 2018 2018
CUI: C0267809
Disease: Cirrhosis, Cryptogenic
Cirrhosis, Cryptogenic
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 15 5 0.010 None 1.000 1 2007 2007
CUI: C0275518
Disease: Acute infectious disease
Acute infectious disease
group Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 198 5 0.010 None 1.000 1 2017 2017
CUI: C0276447
Disease: Rhinovirus infection
Rhinovirus infection
disease Infections Disease or Syndrome 202 4 0.010 None 1.000 1 2019 2019
CUI: C0276680
Disease: Infection by Candida albicans
Infection by Candida albicans
disease Infections Disease or Syndrome 30 0.010 None 1.000 1 2014 2014
CUI: C0029882
Disease: Otitis Media
Otitis Media
disease Otorhinolaryngologic Diseases Disease or Syndrome 175 8 0.010 None 1.000 1 2018 2018
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.010 None 1.000 1 2019 2019
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process 127 49 0.010 None 1.000 1 2018 2018
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
group Nervous System Diseases Disease or Syndrome 977 39 0.010 None 1.000 1 2020 2020
CUI: C0341332
Disease: Indeterminate colitis
Indeterminate colitis
disease Digestive System Diseases Disease or Syndrome 13 1 0.010 None 1.000 1 2016 2016
CUI: C0409952
Disease: Idiopathic osteoarthritis
Idiopathic osteoarthritis
disease Musculoskeletal Diseases Disease or Syndrome 63 12 0.010 None 1.000 1 2013 2013
CUI: C0026636
Disease: Mouth Diseases
Mouth Diseases
group Stomatognathic Diseases Disease or Syndrome 17 0.010 None 1.000 1 2019 2019
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 945 50 0.010 None 1.000 1 2019 2019
CUI: C0694549
Disease: Community acquired pneumonia
Community acquired pneumonia
disease Infections; Respiratory Tract Diseases Disease or Syndrome 75 13 0.010 None 1.000 1 2019 2019