SH2D1A, SH2 domain containing 1A, 4068

N. diseases: 98; 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.
X-Linked Lymphoproliferative Disorder
disease Hemic and Lymphatic Diseases; Immune System Diseases Neoplastic Process 39 7 1.000 0.958 128 5 1998 2017
CUI: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders
group Hemic and Lymphatic Diseases; Immune System Diseases Neoplastic Process 214 6 0.320 1.000 3 1999 2010
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
group Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 556 37 0.300 strong 0
Immunodeficiency following hereditary defective response to Epstein-Barr virus
disease Disease or Syndrome 1 0.200 6 2001 2012
CUI: C0024299
Disease: Lymphoma
Lymphoma
group Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 1306 61 0.180 0.750 8 1998 2017
CUI: C0086438
Disease: Hypogammaglobulinemia
Hypogammaglobulinemia
disease Hemic and Lymphatic Diseases; Immune System Diseases Disease or Syndrome 84 1 0.150 1.000 5 2005 2017
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
group Immune System Diseases Disease or Syndrome 640 10 0.120 1.000 2 2003 2015
CUI: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections
group Virus Diseases Disease or Syndrome 233 11 0.100 0.955 22 1999 2015
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1059 141 0.100 1.000 11 2004 2014
CUI: C0392386
Disease: Decreased platelet count
Decreased platelet count
phenotype Finding 151 0.100 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype Pathological Conditions, Signs and Symptoms Finding 246 3 0.100 0
CUI: C0019151
Disease: Hepatic Encephalopathy
Hepatic Encephalopathy
disease Digestive System Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 35 3 0.100 0
CUI: C0302809
Disease: Fulminant hepatitis
Fulminant hepatitis
disease Disease or Syndrome 32 0.100 0
CUI: C0025289
Disease: Meningitis
Meningitis
disease Nervous System Diseases Disease or Syndrome 90 6 0.100 0
CUI: C0162119
Disease: Hemoglobin low
Hemoglobin low
phenotype Finding 176 1 0.100 0
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 115 2 0.100 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 340 34 0.100 0
CUI: C0014038
Disease: Encephalitis
Encephalitis
disease Nervous System Diseases Disease or Syndrome 143 5 0.100 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype Digestive System Diseases; Pathological Conditions, Signs and Symptoms Finding 372 0.100 0
CUI: C1839972
Disease: Increased IgM level
Increased IgM level
phenotype Finding 17 0.100 0
CUI: C1855204
Disease: Cellular immunodeficiency
Cellular immunodeficiency
phenotype Finding 23 0.100 0
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 489 44 0.100 0
CUI: C0747556
Disease: Recurrent pharyngitis
Recurrent pharyngitis
phenotype Sign or Symptom 4 0.100 0
Reduced natural killer cell activity
phenotype Finding 3 0.100 0
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy
group Hemic and Lymphatic Diseases Disease or Syndrome 90 0.100 0