NLRP3, NLR family pyrin domain containing 3, 114548

N. diseases: 805; N. variants: 74
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.
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 30 22 1.000 None 1.000 45 22 2002 2019
Familial Cold Autoinflammatory Syndrome 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 4 8 0.900 strong 1.000 11 8 2001 2018
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 34 16 0.800 strong 0.977 43 12 2000 2019
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 20 6 0.800 None 1.000 31 2 2001 2017
DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION
disease Disease or Syndrome 1 2 0.600 strong 1.000 2 2 2017 2018
Cryopyrin-Associated Periodic Syndromes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 39 12 0.500 None 0.989 91 10 2001 2020
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
disease Digestive System Diseases Disease or Syndrome 1382 1147 0.400 None 1.000 20 4 2002 2018
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.400 None 1.000 18 1 2010 2019
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease Disease or Syndrome 60 4 0.400 strong 1.000 18 2004 2020
CUI: C1835697
Disease: Keratitis Fugax Hereditaria
Keratitis Fugax Hereditaria
disease Eye Diseases Disease or Syndrome 1 2 0.400 None 1.000 1 2 2018 2018
CUI: C0162836
Disease: Hidradenitis Suppurativa
Hidradenitis Suppurativa
disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 82 2 0.330 None 1.000 4 2016 2020
Hereditary Autoinflammatory Diseases
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 16 1 0.330 strong 1.000 3 2004 2009
CUI: C0021368
Disease: Inflammation
Inflammation
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 467 0.310 None 1.000 3 2002 2012
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris
disease Skin and Connective Tissue Diseases Disease or Syndrome 94 37 0.310 None 1.000 2 1 2016 2019
CUI: C0702166
Disease: Acne
Acne
disease Skin and Connective Tissue Diseases Disease or Syndrome 167 11 0.310 None 1.000 2 1 2016 2019
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
disease Digestive System Diseases Disease or Syndrome 46 15 0.300 None 1.000 1 2009 2009
Pulmonary Fibrosis - from Asbestos Exposure
disease Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome 14 0.300 None 1.000 1 2014 2014
CUI: C0267380
Disease: Crohn's disease of the ileum
Crohn's disease of the ileum
disease Digestive System Diseases Disease or Syndrome 55 0.300 None 1.000 1 2009 2009
CUI: C0003949
Disease: Asbestosis
Asbestosis
disease Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome 47 2 0.300 None 1.000 1 2014 2014
CUI: C0016470
Disease: Food Allergy
Food Allergy
phenotype Immune System Diseases Pathologic Function 9 0.300 None 1.000 1 2009 2009
CUI: C0085652
Disease: Pyoderma Gangrenosum
Pyoderma Gangrenosum
disease Skin and Connective Tissue Diseases Disease or Syndrome 47 2 0.300 None 1.000 1 2016 2016
CUI: C0013182
Disease: Drug Allergy
Drug Allergy
group Immune System Diseases; Chemically-Induced Disorders Pathologic Function 37 0.300 None 1.000 1 2009 2009
CUI: C0156147
Disease: Crohn's disease of large bowel
Crohn's disease of large bowel
disease Digestive System Diseases Disease or Syndrome 96 1 0.300 None 1.000 1 2009 2009
Multiple Sclerosis, Acute Fulminating
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 45 0.300 None 1.000 1 2015 2015
CUI: C0949272
Disease: IIeocolitis
IIeocolitis
disease Digestive System Diseases Disease or Syndrome 53 3 0.300 None 1.000 1 2009 2009