SH2D1A, SH2 domain containing 1A, 4068

N. diseases: 160; N. variants: 8
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 Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 49 10 1.000 strong 0.972 144 6 1998 2020
CUI: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders
group Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 300 14 0.520 strong 1.000 3 1999 2009
CUI: C0024299
Disease: Lymphoma
Lymphoma
group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1548 91 0.470 strong 0.857 7 1998 2019
Immunodeficiency following hereditary defective response to Epstein-Barr virus
phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1 0.200 None 1.000 6 2001 2012
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
group Immune System Diseases Disease or Syndrome 973 31 0.130 None 1.000 3 2003 2017
CUI: C0024282
Disease: Lymphocytosis
Lymphocytosis
disease Hemic and Lymphatic Diseases Disease or Syndrome 78 1 0.110 None 1.000 1 2009 2009
CUI: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections
group Infections Disease or Syndrome 384 72 0.100 None 1.000 32 1991 2020
CUI: C0024291
Disease: Lymphohistiocytosis, Hemophagocytic
Lymphohistiocytosis, Hemophagocytic
disease Hemic and Lymphatic Diseases Disease or Syndrome 117 13 0.100 None 1.000 14 1 2001 2020
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1758 428 0.100 None 1.000 14 2004 2014
CUI: C0021345
Disease: Infectious Mononucleosis
Infectious Mononucleosis
disease Infections; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 58 4 0.100 None 1.000 10 2000 2014
CUI: C0019151
Disease: Hepatic Encephalopathy
Hepatic Encephalopathy
disease Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 100 3 0.100 None 0
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases Sign or Symptom 127 21 0.100 None 0 1
CUI: C0014038
Disease: Encephalitis
Encephalitis
disease Nervous System Diseases Disease or Syndrome 324 18 0.100 None 0 1
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.100 None 0 1
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0 1
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 253 15 0.100 None 0
CUI: C0025289
Disease: Meningitis
Meningitis
disease Nervous System Diseases Disease or Syndrome 191 13 0.100 None 0 1
CUI: C0023530
Disease: Leukopenia
Leukopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 440 153 0.100 None 0 1
CUI: C0747556
Disease: Recurrent pharyngitis
Recurrent pharyngitis
phenotype Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Sign or Symptom 8 0.100 None 0
CUI: C1844662
Disease: Unexplained fevers
Unexplained fevers
phenotype Pathological Conditions, Signs and Symptoms Finding 14 4 0.100 None 0 1
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 277 5 0.100 None 0
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.100 None 0
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure
disease Respiratory Tract Diseases Disease or Syndrome 319 23 0.100 None 0 1