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
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 694 93 0.100 None 0.941 34 6 1998 2019
CUI: C0006309
Disease: Brucellosis
Brucellosis
disease Infections Disease or Syndrome 92 30 0.100 None 1.000 31 7 2001 2020
CUI: C3267073
Disease: Autoinflammatory disease
Autoinflammatory disease
disease Disease or Syndrome 81 10 0.100 None 1.000 24 2002 2020
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: C0221014
Disease: Reactive systemic amyloidosis
Reactive systemic amyloidosis
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 41 11 0.100 None 1.000 16 4 1998 2020
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 38 10 0.100 None 1.000 16 4 1998 2020
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.100 None 0.929 14 2 2004 2019
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.100 None 1.000 12 2006 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.100 None 1.000 12 2006 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.100 None 0.917 12 4 2003 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: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 12 1 1967 2017
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura
disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 198 59 0.100 None 0.909 11 4 2003 2019
CUI: C0003864
Disease: Arthritis
Arthritis
disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.200 None 1.000 10 5 2005 2019
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 25 7 0.100 None 1.000 10 1 2012 2020
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
TNF receptor-associated periodic fever syndrome (TRAPS)
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 90 33 0.090 None 1.000 9 1 2003 2014
Cryopyrin-Associated Periodic Syndromes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 39 12 0.090 None 1.000 9 2004 2020
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
disease Digestive System Diseases Disease or Syndrome 1382 1147 0.080 None 1.000 8 3 2005 2019
CUI: C0035435
Disease: Rheumatism
Rheumatism
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 197 19 0.070 None 1.000 7 2010 2016
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: C3889979
Disease: Periodic Fever Syndrome
Periodic Fever Syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 16 6 0.070 None 1.000 7 3 2004 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.060 None 1.000 6 1 2007 2019