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: 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: C4268694
Disease: Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome [PFAPA]
Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome [PFAPA] 		disease Disease or Syndrome 1 0.010 None 1.000 1 2011 2011
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: C0000727
Disease: Abdomen, Acute
Abdomen, Acute 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 2 0.010 None 1.000 1 2005 2005
CUI: C3890176
Disease: Psoriatic Juvenile Idiopathic Arthritis
Psoriatic Juvenile Idiopathic Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2 2 0.010 None 1.000 1 1 2008 2008
CUI: C4707791
Disease: Inflammatory myopathy with abundant macrophages
Inflammatory myopathy with abundant macrophages 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2014 2014
CUI: C4025875
Disease: Abnormality of the anterior fontanelle
Abnormality of the anterior fontanelle 		phenotype Anatomical Abnormality 2 3 0.100 None 0 1
CUI: C0151859
Disease: Polyserositis
Polyserositis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 3 0.030 None 1.000 3 2008 2018
CUI: C0032805
Disease: Postpericardiotomy Syndrome
Postpericardiotomy Syndrome 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C1405301
Disease: Poliomyelitis, paralytic
Poliomyelitis, paralytic 		disease Disease or Syndrome 4 1 0.010 None 1.000 1 2003 2003
CUI: C1698626
Disease: Small Intestinal Mucositis
Small Intestinal Mucositis 		disease Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C3854373
Disease: Morvan syndrome
Morvan syndrome 		disease Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2016 2016
CUI: C0917813
Disease: Spina Bifida, Open
Spina Bifida, Open 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 5 0.010 None 1.000 1 2019 2019
CUI: C1112734
Disease: Gastric infection
Gastric infection 		disease Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C4310620
Disease: Yao syndrome
Yao syndrome 		disease Disease or Syndrome 5 3 0.010 None 1.000 1 2019 2019
CUI: C4268691
Disease: Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
Tumor necrosis factor receptor associated periodic syndrome [TRAPS] 		disease Disease or Syndrome 6 2 0.020 None 1.000 2 2001 2010
CUI: C0585213
Disease: Minor oral aphthous ulceration
Minor oral aphthous ulceration 		disease Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Disease or Syndrome 6 0.010 None 1.000 1 2011 2011
CUI: C0585274
Disease: Periodic syndrome
Periodic syndrome 		disease Disease or Syndrome 6 0.310 None 1.000 1 2004 2004
CUI: C0149642
Disease: Cervical lymphadenitis
Cervical lymphadenitis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 7 1 0.020 None 1.000 2 2016 2017
CUI: C3891815
Disease: Arthritis, Suppurative
Arthritis, Suppurative 		disease Infections; Musculoskeletal Diseases Disease or Syndrome 7 0.010 None 1.000 1 2006 2006
CUI: C4082167
Disease: Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome
Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome 		disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Immune System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 8 1 0.050 None 1.000 5 1 2011 2019
CUI: C0031048
Disease: Pericarditis, Constrictive
Pericarditis, Constrictive 		disease Cardiovascular Diseases Disease or Syndrome 8 1 0.010 None 1.000 1 1 2011 2011
CUI: C4021798
Disease: Impaired use of nonverbal behaviors
Impaired use of nonverbal behaviors 		phenotype Mental Disorders Mental or Behavioral Dysfunction 8 5 0.100 None 0 1
CUI: C0001416
Disease: Adenitis
Adenitis 		phenotype Hemic and Lymphatic Diseases Sign or Symptom 9 1 0.020 None 1.000 2 2018 2019
CUI: C3152231
Disease: Gastrointestinal infarctions
Gastrointestinal infarctions 		phenotype Finding 10 0.100 None 0