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: 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: C0002726
Disease: Amyloidosis
Amyloidosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 694 93 0.100 None 0.941 34 6 1998 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: C0003123
Disease: Anorexia
Anorexia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 242 10 0.100 None 0
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 377 8 0.100 None 0
CUI: C0038363
Disease: Aphthous Stomatitis
Aphthous Stomatitis 		disease Stomatognathic Diseases Disease or Syndrome 15 2 0.010 None 1.000 1 2011 2011
CUI: C0003615
Disease: Appendicitis
Appendicitis 		disease Digestive System Diseases; Infections Disease or Syndrome 83 10 0.010 None 1.000 1 2012 2012
CUI: C0151942
Disease: Arterial thrombosis
Arterial thrombosis 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 33 1 0.100 None 0
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.100 None 1.000 12 2006 2019
CUI: C0003862
Disease: Arthralgia
Arthralgia 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 248 27 0.110 None 1.000 1 2 2019 2019
CUI: C0003864
Disease: Arthritis
Arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.200 None 1.000 10 5 2005 2019
CUI: C1692886
Disease: Arthritis, Bacterial
Arthritis, Bacterial 		group Infections; Musculoskeletal Diseases Disease or Syndrome 34 0.010 None 1.000 1 2006 2006
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 206 2356 0.020 None 1.000 2 1 2014 2016
CUI: C0003869
Disease: Arthritis, Infectious
Arthritis, Infectious 		group Infections; Musculoskeletal Diseases Disease or Syndrome 33 0.010 None 1.000 1 2006 2006
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: C3891815
Disease: Arthritis, Suppurative
Arthritis, Suppurative 		disease Infections; Musculoskeletal Diseases Disease or Syndrome 7 0.010 None 1.000 1 2006 2006
CUI: C0003962
Disease: Ascites
Ascites 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 198 7 0.100 None 0
CUI: C0085660
Disease: Aseptic necrosis
Aseptic necrosis 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Pathologic Function 41 0.100 None 0
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.020 None 1.000 2 1 1994 2007
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.100 None 1.000 12 2006 2019
CUI: C1862389
Disease: ATRIAL SEPTAL DEFECT 1
ATRIAL SEPTAL DEFECT 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 91 16 0.010 None 1.000 1 2013 2013
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.010 None 1.000 1 2013 2013
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.010 None 1.000 1 2013 2013
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 261 78 0.100 None 0 1