NCF4, neutrophil cytosolic factor 4, 4689

N. diseases: 58; N. variants: 5
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: C3151409
Disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III 		disease Disease or Syndrome 3 2 0.600 None 1.000 3 1 2007 2018
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		disease Digestive System Diseases Disease or Syndrome 1382 1147 0.450 None 0.714 7 1 2007 2017
CUI: C0156147
Disease: Crohn's disease of large bowel
Crohn's disease of large bowel 		disease Digestive System Diseases Disease or Syndrome 96 1 0.320 None 1.000 3 2007 2019
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		group Cardiovascular Diseases Disease or Syndrome 537 45 0.300 None 1.000 1 2005 2005
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 2007 2007
CUI: C0678202
Disease: Regional enteritis
Regional enteritis 		disease Digestive System Diseases Disease or Syndrome 46 15 0.300 None 1.000 1 2007 2007
CUI: C0949272
Disease: IIeocolitis
IIeocolitis 		disease Digestive System Diseases Disease or Syndrome 53 3 0.300 None 1.000 1 2007 2007
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 105 23 0.200 None 1.000 12 2 1993 2019
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		phenotype Laboratory Procedure 610 1144 0.100 None 1.000 2 2 2016 2019
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		phenotype Immune System Diseases Pathologic Function 197 1019 0.100 None 1.000 1 1 2019 2019
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		phenotype Laboratory Procedure 272 452 0.100 None 1.000 1 1 2016 2016
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		phenotype Finding 59 2 0.100 None 0
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		phenotype Digestive System Diseases Pathologic Function 121 4 0.100 None 0
CUI: C0243026
Disease: Sepsis
Sepsis 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.100 None 0
CUI: C0037199
Disease: Sinusitis
Sinusitis 		disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 97 0.100 None 0
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer 		phenotype Skin and Connective Tissue Diseases Disease or Syndrome 151 1 0.100 None 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		phenotype Finding 175 0.100 None 0
CUI: C1396126
Disease: Perioral eczema
Perioral eczema 		disease Skin and Connective Tissue Diseases Disease or Syndrome 3 0.100 None 0
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality 		phenotype Finding 74 1 0.100 None 0
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer 		disease Stomatognathic Diseases Disease or Syndrome 80 22 0.100 None 0
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		phenotype Skin and Connective Tissue Diseases Pathologic Function 91 3 0.100 None 0
CUI: C0520743
Disease: Mediastinal lymphadenopathy
Mediastinal lymphadenopathy 		disease Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 19 0.100 None 0
CUI: C0581354
Disease: Recurrent sinusitis
Recurrent sinusitis 		disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 41 3 0.100 None 0
CUI: C0025289
Disease: Meningitis
Meningitis 		disease Nervous System Diseases Disease or Syndrome 191 13 0.100 None 0