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.
CUI: C0451697
Disease: Immunodeficiency following hereditary defective response to Epstein-Barr virus
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: C1264624
Disease: Fatal infectious mononucleosis
Fatal infectious mononucleosis 		disease Infections; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.040 None 1.000 4 1998 2015
CUI: C0267807
Disease: Lupus hepatitis
Lupus hepatitis 		disease Digestive System Diseases; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2010 2010
CUI: C4283841
Disease: ITK Deficiency
ITK Deficiency 		disease Immune System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C1839969
Disease: Reduced natural killer cell activity
Reduced natural killer cell activity 		phenotype Finding 4 2 0.100 None 0
CUI: C2931071
Disease: Dianzani autoimmune lymphoproliferative syndrome
Dianzani autoimmune lymphoproliferative syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 7 0.010 None 1.000 1 2012 2012
CUI: C0853602
Disease: Immunodeficiency congenital
Immunodeficiency congenital 		disease Disease or Syndrome; Congenital Abnormality 8 0.020 None 1.000 2 2010 2014
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: C0006846
Disease: Cutaneous Candidiasis
Cutaneous Candidiasis 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 9 2 0.010 None 1.000 1 2000 2000
CUI: C0685898
Disease: Food anaphylaxis
Food anaphylaxis 		disease Digestive System Diseases; Immune System Diseases Disease or Syndrome 9 2 0.010 None 1.000 1 2019 2019
CUI: C0542571
Disease: Facial edema
Facial edema 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases; Cardiovascular Diseases Pathologic Function 9 1 0.100 None 0 1
CUI: C0013374
Disease: Dysgammaglobulinemia
Dysgammaglobulinemia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 10 0.040 None 1.000 4 1999 2011
CUI: C0030299
Disease: Pancreatic Pseudocyst
Pancreatic Pseudocyst 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 11 0.010 None < 0.001 1 2017 2017
CUI: C0085679
Disease: Hyperchloremia
Hyperchloremia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 12 2 0.010 None 1.000 1 2019 2019
CUI: C3160886
Disease: Non ST segment elevation acute coronary syndrome
Non ST segment elevation acute coronary syndrome 		disease Disease or Syndrome 12 2 0.010 None 1.000 1 2019 2019
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 13 68 0.010 None 1.000 1 2012 2012
CUI: C1536222
Disease: Non STEMI
Non STEMI 		disease Disease or Syndrome 13 0.010 None 1.000 1 2017 2017
CUI: C1845076
Disease: Lymphoproliferative Syndrome, X-Linked, 2
Lymphoproliferative Syndrome, X-Linked, 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 14 13 0.070 None 1.000 7 2006 2020
CUI: C0863094
Disease: Recurrent respiratory tract infections
Recurrent respiratory tract infections 		disease Disease or Syndrome 14 0.010 None 1.000 1 2013 2013
CUI: C1844662
Disease: Unexplained fevers
Unexplained fevers 		phenotype Pathological Conditions, Signs and Symptoms Finding 14 4 0.100 None 0 1
CUI: C0020192
Disease: Hyaline Membrane Disease
Hyaline Membrane Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 15 0.010 None 1.000 1 1988 1988
CUI: C2242528
Disease: Non-erosive reflux disease
Non-erosive reflux disease 		disease Disease or Syndrome 17 0.010 None 1.000 1 2017 2017
CUI: C1854885
Disease: Cerebral dysmyelination
Cerebral dysmyelination 		phenotype Finding 17 6 0.100 None 0 1
CUI: C0586407
Disease: Skin symptom
Skin symptom 		phenotype Sign or Symptom 19 0.010 None 1.000 1 2012 2012
CUI: C0006852
Disease: Candidiasis of vagina
Candidiasis of vagina 		disease Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome 20 0.010 None 1.000 1 2003 2003