NLRP2, NLR family pyrin domain containing 2, 55655

N. diseases: 155; 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: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
group Immune System Diseases Disease or Syndrome 973 31 0.010 None 1.000 1 2005 2005
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.010 None 1.000 1 2005 2005
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
disease Neoplasms; Eye Diseases Neoplastic Process 376 22 0.010 None 1.000 1 2005 2005
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.030 None 1.000 3 4 2006 2014
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 2111 144 0.030 None 1.000 3 2006 2011
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.030 None 1.000 3 2006 2013
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 184 46 0.020 None 1.000 2 2006 2006
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
disease Neoplastic Process 860 154 0.020 None 1.000 2 1 2006 2011
CUI: C0220644
Disease: Childhood Hodgkin Lymphoma
Childhood Hodgkin Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 399 29 0.010 None 1.000 1 2006 2006
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
disease Neoplasms Neoplastic Process 557 91 0.010 None 1.000 1 2006 2006
CUI: C0740372
Disease: Gastrointestinal lymphoma
Gastrointestinal lymphoma
disease Digestive System Diseases; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 8 0.010 None 1.000 1 2006 2006
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 51 29 0.010 None 1.000 1 2006 2006
Xeroderma Pigmentosum, Complementation Group D
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 70 111 0.010 None 1.000 1 4 2006 2006
CUI: C0007104
Disease: Female Breast Carcinoma
Female Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 71 15 0.010 None 1.000 1 2006 2006
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 31 17 0.010 None 1.000 1 2006 2006
CUI: C1368404
Disease: Hypopharyngeal Carcinoma
Hypopharyngeal Carcinoma
disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 103 1 0.010 None 1.000 1 2006 2006
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.010 None 1.000 1 2006 2006
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.010 None 1.000 1 2006 2006
CUI: C0677898
Disease: invasive cancer
invasive cancer
phenotype Neoplasms Neoplastic Process 146 15 0.010 None 1.000 1 2006 2006
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 71 15 0.010 None 1.000 1 2006 2006
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 399 27 0.010 None 1.000 1 2006 2006
CUI: C0153398
Disease: Hypopharyngeal Cancer
Hypopharyngeal Cancer
disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 50 1 0.010 None 1.000 1 2006 2006
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 900 148 0.010 None 1.000 1 2006 2006
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2841 327 0.030 None 0.667 3 1 2007 2017
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2563 315 0.020 None 0.500 2 2007 2017