AICDA, activation induced cytidine deaminase, 57379

N. diseases: 265; N. variants: 16
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: C1275128
Disease: Autosomal recessive hyperimmunoglobulin M syndrome
Autosomal recessive hyperimmunoglobulin M syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.040 None 1.000 4 2004 2017
CUI: C0155833
Disease: Hyperplasia of adenoids
Hyperplasia of adenoids 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C1720956
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 2
Hyper-IgM Immunodeficiency Syndrome, Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 3 14 0.730 strong 1.000 7 14 2000 2017
CUI: C1863767
Disease: Light Fixation Seizure Syndrome
Light Fixation Seizure Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 3 0.020 None 1.000 2 2003 2012
CUI: C1720957
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 3
Hyper-IgM Immunodeficiency Syndrome, Type 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 3 3 0.300 None 0
CUI: C1720958
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 5
Hyper-IgM Immunodeficiency Syndrome, Type 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 3 2 0.300 None 0
CUI: C1842528
Disease: Impaired Ig class switch recombination
Impaired Ig class switch recombination 		phenotype Finding 4 0.100 None 0
CUI: C0036091
Disease: Sialolithiasis
Sialolithiasis 		disease Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Disease or Syndrome 5 0.010 None 1.000 1 2019 2019
CUI: C0854868
Disease: Non-Hodgkin's lymphoma transformed recurrent
Non-Hodgkin's lymphoma transformed recurrent 		disease Neoplastic Process 5 0.010 None 1.000 1 2004 2004
CUI: C1333172
Disease: Cutaneous Follicular Lymphoma
Cutaneous Follicular Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 5 0.010 None 1.000 1 2017 2017
CUI: C0238158
Disease: Secondary hemochromatosis
Secondary hemochromatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 6 1 0.010 None 1.000 1 2004 2004
CUI: C1536010
Disease: Lymphoma transformation
Lymphoma transformation 		disease Neoplastic Process 6 0.010 None 1.000 1 2003 2003
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 9 92 0.010 None 1.000 1 2019 2019
CUI: C0031157
Disease: Peritonsillar Abscess
Peritonsillar Abscess 		disease Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 10 0.010 None 1.000 1 2018 2018
CUI: C1842777
Disease: Recurrent upper and lower respiratory tract infections
Recurrent upper and lower respiratory tract infections 		phenotype Finding 10 2 0.100 None 0
CUI: C0563312
Disease: IgM monoclonal gammopathy of uncertain significance
IgM monoclonal gammopathy of uncertain significance 		disease Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 11 3 0.010 None 1.000 1 2006 2006
CUI: C1850674
Disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 11 20 0.010 None 1.000 1 2007 2007
CUI: C0272236
Disease: Hyperimmunoglobulin M syndrome
Hyperimmunoglobulin M syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 12 1 0.400 None 1.000 10 2000 2018
CUI: C1332051
Disease: AIDS-Related Non-Hodgkin Lymphoma
AIDS-Related Non-Hodgkin Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 15 0.010 None 1.000 1 2013 2013
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 16 0.010 None 1.000 1 2007 2007
CUI: C1854495
Disease: Recurrent infection of the gastrointestinal tract
Recurrent infection of the gastrointestinal tract 		phenotype Finding 16 0.100 None 0
CUI: C1332210
Disease: Adult Nodular Lymphocyte Predominant Hodgkin Lymphoma
Adult Nodular Lymphocyte Predominant Hodgkin Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 17 0.010 None 1.000 1 2005 2005
CUI: C1332985
Disease: Childhood Nodular Lymphocyte Predominant Hodgkin Lymphoma
Childhood Nodular Lymphocyte Predominant Hodgkin Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 17 0.010 None 1.000 1 2005 2005
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 19 16 0.010 None 1.000 1 1994 1994
CUI: C1334634
Disease: Mature B-Cell Non-Hodgkin Lymphoma
Mature B-Cell Non-Hodgkin Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 20 0.010 None 1.000 1 2011 2011