CD40LG, CD40 ligand, 959

N. diseases: 453; N. variants: 25
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: 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: C0017574
Disease: Gingivitis
Gingivitis 		disease Infections; Stomatognathic Diseases Disease or Syndrome 152 3 0.100 None 0
CUI: C0011991
Disease: Diarrhea
Diarrhea 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 632 63 0.100 None 0
CUI: C1842528
Disease: Impaired Ig class switch recombination
Impaired Ig class switch recombination 		phenotype Finding 4 0.100 None 0
CUI: C0038362
Disease: Stomatitis
Stomatitis 		disease Stomatognathic Diseases Disease or Syndrome 109 22 0.100 None 0
CUI: C1844383
Disease: Recurrent bacterial infection
Recurrent bacterial infection 		phenotype Infections Finding 69 0.100 None 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype Finding 172 1 0.100 None 0
CUI: C0272386
Disease: Hypertrophy of tonsils
Hypertrophy of tonsils 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 15 5 0.100 None 0
CUI: C4025672
Disease: Impaired memory B cell generation
Impaired memory B cell generation 		phenotype Cell or Molecular Dysfunction 3 0.100 None 0
CUI: C0019189
Disease: Hepatitis, Chronic
Hepatitis, Chronic 		disease Digestive System Diseases Disease or Syndrome 224 10 0.100 None 0
CUI: C1847383
Disease: Absence of lymph node germinal center
Absence of lymph node germinal center 		phenotype Finding 4 0.100 None 0
CUI: C1846550
Disease: Decreased T cell activation
Decreased T cell activation 		phenotype Finding 6 0.100 None 0
CUI: C0549123
Disease: Large tonsils (finding)
Large tonsils (finding) 		phenotype Pathological Conditions, Signs and Symptoms Finding 3 0.100 None 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.100 None 0
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1447 291 0.100 None 0.980 49 1975 2019
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 120 122 0.020 None 1.000 2 1975 1995
CUI: C0024303
Disease: Small Cell Lymphoma
Small Cell Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 8 0.010 None 1.000 1 1975 1975
CUI: C0398689
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 1
Hyper-IgM Immunodeficiency Syndrome, Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 33 22 0.800 None 0.983 118 21 1992 2020
CUI: C0543697
Disease: Mixed cryoglobulinemia
Mixed cryoglobulinemia 		disease Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 56 5 0.010 None 1.000 1 1992 1992
CUI: C0272236
Disease: Hyperimmunoglobulin M syndrome
Hyperimmunoglobulin M syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 12 1 0.200 strong 1.000 32 1 1993 2018
CUI: C0023418
Disease: leukemia
leukemia 		disease Neoplasms Neoplastic Process 2111 144 0.100 None 1.000 10 1993 2019
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		disease Neoplasms Neoplastic Process 1740 140 0.090 None 1.000 9 1993 2019
CUI: C1863767
Disease: Light Fixation Seizure Syndrome
Light Fixation Seizure Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 3 0.040 None 1.000 4 1993 2016
CUI: C0745242
Disease: Immunoglobulin deficiency
Immunoglobulin deficiency 		disease Immune System Diseases Disease or Syndrome 8 0.020 None 1.000 2 1993 2018