MEFV, MEFV innate immuity regulator, pyrin, 4210

N. diseases: 410; N. variants: 72
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: C3267073
Disease: Autoinflammatory disease
Autoinflammatory disease 		disease Disease or Syndrome 81 10 0.100 None 1.000 24 2002 2020
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		disease Disease or Syndrome 60 4 0.400 strong 1.000 19 1 1997 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 12 1 1967 2017
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.100 None 1.000 12 1 1967 2017
CUI: C0015974
Disease: Periodic fever
Periodic fever 		disease Disease or Syndrome 19 5 0.040 None 1.000 4 2 2000 2017
CUI: C3714772
Disease: Recurrent fevers
Recurrent fevers 		phenotype Sign or Symptom 48 4 0.140 None 1.000 4 2002 2014
CUI: C3889136
Disease: Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome 		disease Disease or Syndrome 25 8 0.030 None 1.000 3 2008 2014
CUI: C1142272
Disease: Neutrophilic dermatosis
Neutrophilic dermatosis 		disease Disease or Syndrome 12 0.020 None 1.000 2 2016 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2015 2015
CUI: C1411966
Disease: Clostridium; difficile (disorder)
Clostridium; difficile (disorder) 		disease Disease or Syndrome 106 0.020 None 1.000 2 2016 2016
CUI: C2062441
Disease: Influenza A
Influenza A 		disease Disease or Syndrome 563 19 0.020 None 1.000 2 2017 2018
CUI: C3463897
Disease: HYDATIDIFORM MOLE, RECURRENT, 1
HYDATIDIFORM MOLE, RECURRENT, 1 		disease Disease or Syndrome 66 14 0.020 None 1.000 2 2011 2014
CUI: C4268691
Disease: Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
Tumor necrosis factor receptor associated periodic syndrome [TRAPS] 		disease Disease or Syndrome 6 2 0.020 None 1.000 2 2001 2010
CUI: C0023222
Disease: Pain in lower limb
Pain in lower limb 		phenotype Sign or Symptom 31 2 0.010 None 1.000 1 2019 2019
CUI: C0374997
Disease: Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 593 24 0.010 None 1.000 1 2018 2018
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 2012 2012
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		phenotype Laboratory Procedure 283 679 0.100 None 1.000 1 1 2012 2012
CUI: C0585274
Disease: Periodic syndrome
Periodic syndrome 		disease Disease or Syndrome 6 0.310 None 1.000 1 2004 2004
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		phenotype Neoplastic Process 384 40 0.010 None 1.000 1 2010 2010
CUI: C1112734
Disease: Gastric infection
Gastric infection 		disease Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C1405301
Disease: Poliomyelitis, paralytic
Poliomyelitis, paralytic 		disease Disease or Syndrome 4 1 0.010 None 1.000 1 2003 2003
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2010 2010
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2018 2018
CUI: C1698626
Disease: Small Intestinal Mucositis
Small Intestinal Mucositis 		disease Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C1861502
Disease: COLCHICINE RESISTANCE
COLCHICINE RESISTANCE 		phenotype Disease or Syndrome 13 3 0.010 None 1.000 1 1 2004 2004