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: C0156181
Disease: Peritoneal adhesion
Peritoneal adhesion 		disease Digestive System Diseases; Skin and Connective Tissue Diseases Acquired Abnormality 32 0.010 None 1.000 1 1996 1996
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		disease Anatomical Abnormality 83 20 0.010 None < 0.001 1 2013 2013
CUI: C4025758
Disease: Abnormal myocardium morphology
Abnormal myocardium morphology 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 19 0.100 None 0
CUI: C4025875
Disease: Abnormality of the anterior fontanelle
Abnormality of the anterior fontanelle 		phenotype Anatomical Abnormality 2 3 0.100 None 0 1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 12 1 1967 2017
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: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		disease Cardiovascular Diseases Congenital Abnormality 154 23 0.010 None 1.000 1 2019 2019
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: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.100 None 0 1
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.100 None 0 1
CUI: C0431447
Disease: Synophrys
Synophrys 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 111 23 0.100 None 0 1
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype Diagnostic Procedure 84 0.100 None 0
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