PLCG2, phospholipase C gamma 2, 5336

N. diseases: 18; N. variants: 10
Source: CURATED ×
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.
AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED
disease Immune System Diseases Disease or Syndrome 1 1 0.710 None 1.000 3 1 2012 2018
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 55 183 0.700 None 0.929 1 2 2007 2020
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3
disease Disease or Syndrome 1 0.500 None 1.000 3 2012 2018
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
group Digestive System Diseases Disease or Syndrome 35 357 0.400 None 1.000 1 1 2017 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 101 952 0.360 None 1.000 1 2017 2019
PLCG2-associated antibody deficiency and immune dysregulation
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.320 None 1.000 2 2012 2020
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 99 0.310 None 1.000 1 2017 2019
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 99 0.300 None 1.000 1 2017 2017
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 100 0.300 None 1.000 1 2017 2017
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 99 0.300 None 1.000 1 2017 2017
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 99 2 0.300 None 1.000 1 2017 2017
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease Disease or Syndrome 35 0.300 strong 1.000 1 2018 2018
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 99 0.300 None 1.000 1 2017 2017
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: C0268390
Disease: Muckle-Wells Syndrome
Muckle-Wells Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 5 9 0.300 None 0
Cryopyrin-Associated Periodic Syndromes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 4 5 0.300 None 0
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 4 19 0.300 None 0
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 4 0.300 None 0