UNC13D, unc-13 homolog D, 201294

N. diseases: 48; N. variants: 26
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: C0001824
Disease: Agranulocytosis
Agranulocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 55 8 0.100 None 0
CUI: C0876991
Disease: Histiocytosis haematophagic
Histiocytosis haematophagic 		disease Disease or Syndrome 36 2 0.100 None 0 2
CUI: C1839969
Disease: Reduced natural killer cell activity
Reduced natural killer cell activity 		phenotype Finding 4 2 0.100 None 0 2
CUI: C1844662
Disease: Unexplained fevers
Unexplained fevers 		phenotype Pathological Conditions, Signs and Symptoms Finding 14 4 0.100 None 0 2
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia 		disease Disease or Syndrome 60 14 0.100 None 0
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 340 169 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
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0 2
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.100 None 0
CUI: C0015967
Disease: Fever
Fever 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.100 None 0
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 56 4 0.100 None 0
CUI: C0003864
Disease: Arthritis
Arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.010 None 1.000 1 2008 2008
CUI: C1868679
Disease: GRISCELLI SYNDROME, TYPE 2
GRISCELLI SYNDROME, TYPE 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 4 11 0.010 None 1.000 1 2009 2009
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		disease Neoplasms Neoplastic Process 1740 140 0.010 None 1.000 1 2011 2011
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 92 14 0.010 None 1.000 1 2011 2011
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 639 50 0.010 None 1.000 1 2011 2011
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		group Immune System Diseases Disease or Syndrome 451 116 0.010 None 1.000 1 2011 2011
CUI: C4288080
Disease: UNC13D Deficiency
UNC13D Deficiency 		disease Immune System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2012 2012
CUI: C4324563
Disease: Neutrophil extracellular trap formation
Neutrophil extracellular trap formation 		disease Disease or Syndrome 55 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 2013 2013
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.010 None 1.000 1 2013 2013
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		group Immune System Diseases Disease or Syndrome 93 23 0.010 None 1.000 1 2014 2014
CUI: C4228779
Disease: Increased susceptibility to malignancy
Increased susceptibility to malignancy 		phenotype Neoplasms Finding 1 0.300 moderate 1.000 1 2014 2014
CUI: C0023290
Disease: Leishmaniasis, Visceral
Leishmaniasis, Visceral 		disease Infections Disease or Syndrome 197 22 0.010 None 1.000 1 2014 2014
CUI: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections 		group Infections Disease or Syndrome 384 72 0.020 None 1.000 2 2014 2015