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: 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: C1851347
Disease: Familial Mediterranean Fever, Autosomal Dominant
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: C0006309
Disease: Brucellosis
Brucellosis 		disease Infections Disease or Syndrome 92 30 0.100 None 1.000 31 7 2001 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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		disease Digestive System Diseases Disease or Syndrome 1458 827 0.050 None 1.000 5 6 2006 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: 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: 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: 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: 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: 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: C0085253
Disease: Adult-Onset Still Disease
Adult-Onset Still Disease 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 76 5 0.060 None 0.833 6 4 2013 2018
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: 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: 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: 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: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.070 None 1.000 7 3 2002 2018
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.060 None 0.833 6 3 2011 2019
CUI: C1384600
Disease: Systemic onset juvenile chronic arthritis
Systemic onset juvenile chronic arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 90 53 0.030 None 1.000 3 3 2009 2014
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 503 64 0.020 None 0.500 2 3 2015 2019
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 766 118 0.010 None 1.000 1 3 2006 2006
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: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 450 128 0.050 None 1.000 5 2 2004 2018