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: C3536715
Disease: AA amyloidosis
AA amyloidosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 38 10 0.020 None 1.000 2 2002 2004
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 302 18 0.110 None 1.000 1 2014 2014
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.040 None 1.000 4 2017 2019
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		disease Finding 40 2 0.100 None 0
CUI: C0151854
Disease: Abnormal platelets
Abnormal platelets 		phenotype Hemic and Lymphatic Diseases Cell or Molecular Dysfunction 11 0.100 None 0
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 36 4 0.100 None 0
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice 		disease Finding 64 0.100 None 0
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 46 21 0.010 None 1.000 1 1996 1996
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: 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: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		disease Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process 131 3 0.010 None 1.000 1 2019 2019
CUI: C0151332
Disease: Active tuberculosis
Active tuberculosis 		disease Infections Disease or Syndrome 116 25 0.020 None 1.000 2 2012 2019
CUI: C0001306
Disease: Acute alcoholic liver disease
Acute alcoholic liver disease 		disease Digestive System Diseases; Chemically-Induced Disorders; Mental Disorders Disease or Syndrome 35 0.200 None 1.000 1 2017 2017
CUI: C0263678
Disease: Acute arthritis
Acute arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 9 0.010 None 1.000 1 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: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 405 135 0.020 None 1.000 2 1 2017 2017
CUI: C2118460
Disease: Acute colitis
Acute colitis 		disease Digestive System Diseases Disease or Syndrome 83 0.060 None 1.000 6 2017 2019
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		disease Cardiovascular Diseases Disease or Syndrome 440 139 0.020 None 1.000 2 2015 2017
CUI: C3266959
Disease: Acute focal bacterial nephritis
Acute focal bacterial nephritis 		disease Disease or Syndrome 7 5 0.010 None 1.000 1 1 2015 2015
CUI: C0281773
Disease: Acute glaucoma
Acute glaucoma 		disease Disease or Syndrome 11 0.020 None 1.000 2 2014 2019
CUI: C0856825
Disease: Acute GVH disease
Acute GVH disease 		disease Immune System Diseases Disease or Syndrome 294 49 0.020 None 1.000 2 2013 2017
CUI: C0267797
Disease: Acute hepatitis
Acute hepatitis 		disease Digestive System Diseases Disease or Syndrome 62 2 0.010 None 1.000 1 2020 2020
CUI: C0275518
Disease: Acute infectious disease
Acute infectious disease 		group Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 198 5 0.020 None 1.000 2 2018 2018
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.010 None 1.000 1 2019 2019
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 766 118 0.100 None 1.000 10 2015 2019