NLRC4, NLR family CARD domain containing 4, 58484

N. diseases: 145; N. variants: 10
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: C4015276
Disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4 		disease Disease or Syndrome 1 1 0.800 None 1.000 2 1 2014 2017
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 0.720 None 1.000 2 2 2014 2019
CUI: C4015067
Disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS
AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS 		disease Disease or Syndrome 2 3 0.700 None 1.000 4 3 2014 2017
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
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 0.510 None 1.000 1 2017 2017
CUI: C0014356
Disease: Enterocolitis
Enterocolitis 		disease Digestive System Diseases Disease or Syndrome 40 2 0.420 None 1.000 2 2014 2018
CUI: C1096155
Disease: Macrophage Activation Syndrome
Macrophage Activation Syndrome 		disease Immune System Diseases Disease or Syndrome 57 6 0.340 None 1.000 4 1 2014 2018
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		disease Disease or Syndrome 60 4 0.320 strong 1.000 3 2017 2020
CUI: C0751422
Disease: Hereditary Autoinflammatory Diseases
Hereditary Autoinflammatory Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 16 1 0.310 None 1.000 3 2014 2014
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 0.300 None 0
CUI: C2316212
Disease: Cryopyrin-Associated Periodic Syndromes
Cryopyrin-Associated Periodic Syndromes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 39 12 0.300 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 0.300 None 0
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: C0003864
Disease: Arthritis
Arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.110 None 1.000 1 2014 2014
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		phenotype Laboratory Procedure 135 624 0.100 None 1.000 1 2 2014 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.100 None 1.000 1 1 2019 2019
CUI: C2697766
Disease: Interleukin 18 Measurement
Interleukin 18 Measurement 		phenotype Laboratory Procedure 16 25 0.100 None 1.000 1 1 2017 2017
CUI: C0033774
Disease: Pruritus
Pruritus 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 107 2 0.100 None 0
CUI: C0151740
Disease: Intracranial Hypertension
Intracranial Hypertension 		disease Nervous System Diseases Finding 72 1 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: C0042109
Disease: Urticaria
Urticaria 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 168 11 0.100 None 0
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: C0267557
Disease: Secretory diarrhea
Secretory diarrhea 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 19 2 0.100 None 0
CUI: C0151632
Disease: ESR raised
ESR raised 		phenotype Finding 36 0.100 None 0
CUI: C0034150
Disease: Purpura
Purpura 		disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 68 1 0.100 None 0
CUI: C0042164
Disease: Uveitis
Uveitis 		disease Eye Diseases Disease or Syndrome 247 43 0.100 None 0