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.
Increased susceptibility to malignancy
phenotype Neoplasms Finding 1 0.300 moderate 1.000 1 2014 2014
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
disease Hemic and Lymphatic Diseases Disease or Syndrome 2 20 0.860 strong 1.000 28 20 2003 2019
CUI: C4288080
Disease: UNC13D Deficiency
UNC13D Deficiency
disease Immune System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2012 2012
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
Reduced natural killer cell activity
phenotype Finding 4 2 0.100 None 0 2
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
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
disease Hemic and Lymphatic Diseases Disease or Syndrome 9 25 0.010 None 1.000 1 2017 2017
CUI: C1844662
Disease: Unexplained fevers
Unexplained fevers
phenotype Pathological Conditions, Signs and Symptoms Finding 14 4 0.100 None 0 2
CUI: C4316899
Disease: Cystinosis
Cystinosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 32 27 0.010 None 1.000 1 2019 2019
Familial Hemophagocytic Lymphocytosis
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 35 6 0.400 None 1.000 40 1 2001 2019
CUI: C0876991
Disease: Histiocytosis haematophagic
Histiocytosis haematophagic
disease Disease or Syndrome 36 2 0.100 None 0 2
Neutrophil extracellular trap formation
disease Disease or Syndrome 55 0.010 None 1.000 1 2012 2012
CUI: C0001824
Disease: Agranulocytosis
Agranulocytosis
disease Hemic and Lymphatic Diseases Disease or Syndrome 55 8 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: C1096155
Disease: Macrophage Activation Syndrome
Macrophage Activation Syndrome
disease Immune System Diseases Disease or Syndrome 57 6 0.040 None 1.000 4 2008 2018
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia
disease Disease or Syndrome 60 14 0.100 None 0
Autoimmune Lymphoproliferative Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 65 22 0.030 None 1.000 3 2013 2018
Systemic onset juvenile chronic arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 90 53 0.040 None 1.000 4 2008 2018
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: 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: C0024291
Disease: Lymphohistiocytosis, Hemophagocytic
Lymphohistiocytosis, Hemophagocytic
disease Hemic and Lymphatic Diseases Disease or Syndrome 117 13 0.100 None 1.000 23 2003 2019
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
disease Skin and Connective Tissue Diseases Disease or Syndrome 126 15 0.010 None < 0.001 1 2015 2015
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: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 8 0.010 None 1.000 1 2019 2019
CUI: C0023290
Disease: Leishmaniasis, Visceral
Leishmaniasis, Visceral
disease Infections Disease or Syndrome 197 22 0.010 None 1.000 1 2014 2014