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.
CUI: C4521680
Disease: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION
DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION 		disease Disease or Syndrome 1 2 0.600 strong 1.000 2 2 2017 2018
CUI: C0152008
Disease: Vulvovaginal disease
Vulvovaginal disease 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C0232495
Disease: Lower abdominal pain
Lower abdominal pain 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Sign or Symptom 1 1 0.010 None 1.000 1 2009 2009
CUI: C0864813
Disease: Sporothrix schenckii Infection
Sporothrix schenckii Infection 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
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: C0275550
Disease: Acute bacterial peritonitis
Acute bacterial peritonitis 		disease Infections Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C0276035
Disease: Glasser's disease
Glasser's disease 		disease Infections; Musculoskeletal Diseases Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C0342611
Disease: Familial non-neuropathic amyloidosis
Familial non-neuropathic amyloidosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 2 0.200 None 1.000 1 2012 2012
CUI: C1304249
Disease: Cutaneous xanthoma
Cutaneous xanthoma 		disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C1719313
Disease: Hereditary amyloid nephropathy
Hereditary amyloid nephropathy 		disease Disease or Syndrome 2 0.200 None 1.000 1 2012 2012
CUI: C3203622
Disease: Crystal nephropathy
Crystal nephropathy 		disease Disease or Syndrome 2 0.010 None 1.000 1 2016 2016
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: C0157742
Disease: Urticaria due to cold and heat
Urticaria due to cold and heat 		disease Skin and Connective Tissue Diseases; Immune System Diseases Injury or Poisoning 2 0.200 None 0
CUI: C1761613
Disease: Conjunctival hyperemia
Conjunctival hyperemia 		phenotype Eye Diseases Finding 3 0.100 None 0
CUI: C4551895
Disease: Familial Cold Autoinflammatory Syndrome 1
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: C2712871
Disease: Gout attack
Gout attack 		disease Disease or Syndrome 4 0.020 None 1.000 2 2009 2018
CUI: C0403683
Disease: Non-bacterial prostatitis
Non-bacterial prostatitis 		disease Male Urogenital Diseases Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C0694548
Disease: Cough variant asthma
Cough variant asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C1619733
Disease: Gout flare
Gout flare 		disease Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C1698626
Disease: Small Intestinal Mucositis
Small Intestinal Mucositis 		disease Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C1852222
Disease: Failure of Tooth Eruption, Primary
Failure of Tooth Eruption, Primary 		disease Stomatognathic Diseases Disease or Syndrome 4 2 0.010 None 1.000 1 2019 2019
CUI: C0155300
Disease: Pseudopapilledema
Pseudopapilledema 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 0.100 None 0
CUI: C1442978
Disease: Hernia of abdominal wall
Hernia of abdominal wall 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 4 0.100 None 0
CUI: C0276665
Disease: Pulmonary paracoccidioidomycosis
Pulmonary paracoccidioidomycosis 		disease Infections Disease or Syndrome 5 0.030 None 1.000 3 2017 2019
CUI: C0521626
Disease: Fibrosis of urinary bladder
Fibrosis of urinary bladder 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Acquired Abnormality 5 0.020 None 1.000 2 2017 2019