MEFV, MEFV innate immuity regulator, pyrin, 4210

N. diseases: 298; N. variants: 32
Source: BEFREE ×
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: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 942 39 0.010 None 1.000 1 2020 2020
CUI: C0263680
Disease: Chronic arthritis
Chronic arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 30 1 0.010 None 1.000 1 1 2020 2020
CUI: C0014356
Disease: Enterocolitis
Enterocolitis 		disease Digestive System Diseases Disease or Syndrome 35 2 0.010 None 1.000 1 2019 2019
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		disease Digestive System Diseases; Infections Disease or Syndrome 1736 316 0.010 None 1.000 1 2019 2019
CUI: C0033377
Disease: Ptosis
Ptosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 77 12 0.010 None 1.000 1 2019 2019
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 231 56 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
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 225 45 0.010 None 1.000 1 2019 2019
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		disease Cardiovascular Diseases Congenital Abnormality 103 14 0.010 None 1.000 1 2019 2019
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		disease Cardiovascular Diseases Disease or Syndrome 375 47 0.010 None 1.000 1 2019 2019
CUI: C0178664
Disease: Glomerulosclerosis (disorder)
Glomerulosclerosis (disorder) 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 188 2 0.010 None 1.000 1 2019 2019
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 830 162 0.010 None 1.000 1 2019 2019
CUI: C0018681
Disease: Headache
Headache 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 158 24 0.010 None 1.000 1 1 2019 2019
CUI: C0858762
Disease: Neuro-Behcet disease
Neuro-Behcet disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome 15 0.010 None 1.000 1 2019 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 758 125 0.010 None 1.000 1 2019 2019
CUI: C0917813
Disease: Spina Bifida, Open
Spina Bifida, Open 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 3 0.010 None 1.000 1 2019 2019
CUI: C0238694
Disease: Peripheral arthritis
Peripheral arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 22 15 0.010 None 1.000 1 1 2019 2019
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2459 900 0.010 None 1.000 1 2019 2019
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease Eye Diseases Disease or Syndrome 50 8 0.010 None 1.000 1 2019 2019
CUI: C0021933
Disease: Intussusception
Intussusception 		disease Digestive System Diseases Disease or Syndrome 19 0.010 None 1.000 1 2019 2019
CUI: C0023222
Disease: Pain in lower limb
Pain in lower limb 		phenotype Sign or Symptom 22 0.010 None 1.000 1 2019 2019
CUI: C0003862
Disease: Arthralgia
Arthralgia 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 104 16 0.110 None 1.000 1 2 2019 2019
CUI: C0026636
Disease: Mouth Diseases
Mouth Diseases 		group Stomatognathic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 937 50 0.010 None 1.000 1 2019 2019
CUI: C3805083
Disease: Portal fibrosis
Portal fibrosis 		phenotype Digestive System Diseases Disease or Syndrome 12 0.010 None 1.000 1 2019 2019