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: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 133 82 1.000 None 0.993 444 60 1993 2020
Familial Mediterranean Fever, Autosomal Dominant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 1 9 0.700 None 1.000 7 9 1997 2017
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome 502 243 0.500 None 1.000 21 9 2000 2019
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease Disease or Syndrome 60 4 0.400 strong 1.000 19 1 1997 2019
CUI: C0702166
Disease: Acne
Acne
disease Skin and Connective Tissue Diseases Disease or Syndrome 167 11 0.400 None 1.000 1 2016 2016
Hereditary Autoinflammatory Diseases
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 16 1 0.360 strong 1.000 7 1 2004 2018
CUI: C0085652
Disease: Pyoderma Gangrenosum
Pyoderma Gangrenosum
disease Skin and Connective Tissue Diseases Disease or Syndrome 47 2 0.320 None 1.000 3 2006 2017
CUI: C0162836
Disease: Hidradenitis Suppurativa
Hidradenitis Suppurativa
disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 82 2 0.310 None 1.000 2 2016 2019
CUI: C0149910
Disease: Intermittent joint effusion
Intermittent joint effusion
disease Musculoskeletal Diseases Disease or Syndrome 2 0.310 None 1.000 2 2006 2007
CUI: C0585274
Disease: Periodic syndrome
Periodic syndrome
disease Disease or Syndrome 6 0.310 None 1.000 1 2004 2004
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 450 89 0.310 None 1.000 1 2007 2007
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris
disease Skin and Connective Tissue Diseases Disease or Syndrome 94 37 0.300 None 1.000 1 2016 2016
CUI: C0015967
Disease: Fever
Fever
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.200 None 1.000 24 3 2000 2019
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
disease Musculoskeletal Diseases Disease or Syndrome 710 609 0.200 None 1.000 12 5 2008 2019
CUI: C0003864
Disease: Arthritis
Arthritis
disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.200 None 1.000 10 5 2005 2019
CUI: C0268382
Disease: Amyloid nephropathy
Amyloid nephropathy
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 20 7 0.190 None 1.000 9 3 2000 2013
CUI: C0042384
Disease: Vasculitis
Vasculitis
disease Cardiovascular Diseases Disease or Syndrome 294 24 0.140 None 1.000 4 2 2007 2019
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 302 18 0.140 None 1.000 4 5 2005 2019
CUI: C3714772
Disease: Recurrent fevers
Recurrent fevers
phenotype Sign or Symptom 48 4 0.140 None 1.000 4 2002 2014
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.130 None 1.000 3 2 2005 2019
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.130 None 1.000 3 2016 2019
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 384 45 0.120 None 1.000 3 2 2005 2018
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 277 5 0.120 None 1.000 2 2011 2011
CUI: C0035021
Disease: Relapsing Fever
Relapsing Fever
disease Infections Disease or Syndrome 48 2 0.120 None 1.000 2 2002 2014
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.120 None 1.000 2 2006 2020