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: C0853602
Disease: Immunodeficiency congenital
Immunodeficiency congenital 		disease Disease or Syndrome; Congenital Abnormality 8 0.020 None 1.000 2 2010 2014
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2007 2013
CUI: C0586407
Disease: Skin symptom
Skin symptom 		phenotype Sign or Symptom 19 0.010 None 1.000 1 2012 2012
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: C0876991
Disease: Histiocytosis haematophagic
Histiocytosis haematophagic 		disease Disease or Syndrome 36 2 0.010 None 1.000 1 2001 2001
CUI: C1536222
Disease: Non STEMI
Non STEMI 		disease Disease or Syndrome 13 0.010 None 1.000 1 2017 2017
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2014 2014
CUI: C1959635
Disease: Parvovirus B19 (disease)
Parvovirus B19 (disease) 		disease Disease or Syndrome 59 0.010 None 1.000 1 2010 2010
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: 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: C4324563
Disease: Neutrophil extracellular trap formation
Neutrophil extracellular trap formation 		disease Disease or Syndrome 55 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: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype Finding 172 1 0.100 None 0
CUI: C1854885
Disease: Cerebral dysmyelination
Cerebral dysmyelination 		phenotype Finding 17 6 0.100 None 0 1
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.040 None 0.750 4 2009 2014
CUI: C0042384
Disease: Vasculitis
Vasculitis 		disease Cardiovascular Diseases Disease or Syndrome 294 24 0.020 None 1.000 2 2001 2019
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		disease Cardiovascular Diseases Disease or Syndrome 440 139 0.020 None 1.000 2 2012 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.010 None 1.000 1 2007 2007
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: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 65 22 0.010 None 1.000 1 2012 2012
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: C3887645
Disease: Job Syndrome
Job Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 35 12 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: C0017205
Disease: Gaucher Disease
Gaucher Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 143 82 0.010 None 1.000 1 2005 2005
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