MEFV, MEFV innate immuity regulator, pyrin, 4210

N. diseases: 298; N. variants: 32
Source: BEFREE ×
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 129 41 1.000 None 0.993 358 20 1993 2020
CUI: C0004096
Disease: Asthma
Asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 1731 714 0.020 None 1.000 2 1 1994 2007
CUI: C0156181
Disease: Peritoneal adhesion
Peritoneal adhesion
disease Digestive System Diseases; Skin and Connective Tissue Diseases Acquired Abnormality 31 0.010 None 1.000 1 1996 1996
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease Disease or Syndrome 41 4 0.400 strong 1.000 18 1 1997 2019
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 685 93 0.100 None 0.941 32 6 1998 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: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 1674 118 0.020 None 1.000 2 1999 2010
CUI: C0015967
Disease: Fever
Fever
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 811 56 0.200 None 1.000 23 3 2000 2019
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 480 202 0.500 None 1.000 21 6 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 19 7 0.190 None 1.000 9 3 2000 2013
CUI: C0015974
Disease: Periodic fever
Periodic fever
disease Disease or Syndrome 19 5 0.040 None 1.000 4 2 2000 2017
CUI: C0268390
Disease: Muckle-Wells Syndrome
Muckle-Wells Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 31 11 0.030 None 1.000 3 1 2000 2017
CUI: C0398691
Disease: Hyperimmunoglobulinemia D
Hyperimmunoglobulinemia D
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 11 3 0.030 None 1.000 3 2000 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4264 861 0.010 None 1.000 1 2000 2000
CUI: C0006309
Disease: Brucellosis
Brucellosis
disease Infections Disease or Syndrome 90 30 0.100 None 1.000 31 7 2001 2020
CUI: C0268380
Disease: Systemic amyloidosis
Systemic amyloidosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 21 10 0.020 None 1.000 2 2 2001 2018
CUI: C0281479
Disease: Primary Systemic Amyloidosis
Primary Systemic Amyloidosis
disease Neoplasms; Nutritional and Metabolic Diseases; Immune System Diseases Neoplastic Process 27 10 0.020 None 1.000 2 2 2001 2018
Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
disease Disease or Syndrome 6 2 0.020 None 1.000 2 2001 2010
CUI: C0018021
Disease: Goiter
Goiter
phenotype Endocrine System Diseases Disease or Syndrome 103 19 0.010 None 1.000 1 2001 2001
CUI: C3267073
Disease: Autoinflammatory disease
Autoinflammatory disease
disease Disease or Syndrome 81 10 0.100 None 1.000 24 2002 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8577 1441 0.080 None 1.000 8 2002 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.070 None 1.000 7 2002 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10153 1571 0.070 None 1.000 7 3 2002 2018
CUI: C3714772
Disease: Recurrent fevers
Recurrent fevers
phenotype Sign or Symptom 19 3 0.140 None 1.000 4 2002 2014