CD40, CD40 molecule, 958

N. diseases: 528; N. variants: 21
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: C1842528
Disease: Impaired Ig class switch recombination
Impaired Ig class switch recombination 		phenotype Finding 4 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: C1847383
Disease: Absence of lymph node germinal center
Absence of lymph node germinal center 		phenotype Finding 4 0.100 None 0
CUI: C1844383
Disease: Recurrent bacterial infection
Recurrent bacterial infection 		phenotype Infections Finding 69 0.100 None 0
CUI: C1720958
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 5
Hyper-IgM Immunodeficiency Syndrome, Type 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 3 2 0.300 None 0
CUI: C1720956
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 2
Hyper-IgM Immunodeficiency Syndrome, Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 3 14 0.300 None 0
CUI: C0027947
Disease: Neutropenia
Neutropenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 389 97 0.100 None 0
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 143 4 0.010 None 1.000 1 1990 1990
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		disease Neoplasms Neoplastic Process 1740 140 0.020 None 1.000 2 1990 1993
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.010 None 1.000 1 1993 1993
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.010 None 1.000 1 1993 1993
CUI: C0745242
Disease: Immunoglobulin deficiency
Immunoglobulin deficiency 		disease Immune System Diseases Disease or Syndrome 8 0.010 None 1.000 1 1993 1993
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.010 None 1.000 1 1993 1993
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 158 1 0.020 None 1.000 2 1994 1994
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 38 42 0.020 None 1.000 2 1994 1994
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 160 10 0.010 None 1.000 1 1994 1994
CUI: C0024419
Disease: Waldenstrom Macroglobulinemia
Waldenstrom Macroglobulinemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 162 15 0.010 None 1.000 1 1994 1994
CUI: C0026470
Disease: Monoclonal Gammopathy of Undetermined Significance
Monoclonal Gammopathy of Undetermined Significance 		disease Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 227 20 0.010 None 1.000 1 1994 1994
CUI: C1959632
Disease: Plasma Cell Neoplasm
Plasma Cell Neoplasm 		disease Neoplasms Neoplastic Process 46 2 0.010 None 1.000 1 1994 1994
CUI: C1859308
Disease: PREMATURE CENTROMERE DIVISION
PREMATURE CENTROMERE DIVISION 		disease Disease or Syndrome 66 2 0.010 None 1.000 1 1994 1994
CUI: C1136084
Disease: Plasma cell dyscrasia
Plasma cell dyscrasia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 36 0.010 None 1.000 1 1994 1994
CUI: C0023484
Disease: Leukemia, Plasma Cell
Leukemia, Plasma Cell 		disease Neoplasms; Immune System Diseases Neoplastic Process 47 0.020 None 1.000 2 1994 1995
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 284 46 0.020 None 1.000 2 1994 1995
CUI: C0086438
Disease: Hypogammaglobulinemia
Hypogammaglobulinemia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 76 2 0.010 None < 0.001 1 1996 1996
CUI: C3875321
Disease: Inflammatory dermatosis
Inflammatory dermatosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 382 6 0.010 None 1.000 1 1996 1996