CDKN2B, cyclin dependent kinase inhibitor 2B, 1030

N. diseases: 440; N. variants: 13
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: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 820 55 0.100 None 0
CUI: C4023068
Disease: Increased urinary cortisol level
Increased urinary cortisol level
phenotype Nutritional and Metabolic Diseases Finding 8 0.100 None 0
Increased circulating cortisol level
phenotype Finding 11 0.100 None 0
Pituitary growth hormone cell adenoma
disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 8 0.100 None 0
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
group Eye Diseases Disease or Syndrome 714 56 0.100 None 0
CUI: C0033375
Disease: Prolactinoma
Prolactinoma
disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 187 6 0.100 None 0
CUI: C0040100
Disease: Thymoma
Thymoma
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 291 20 0.100 None 0
CUI: C0007095
Disease: Carcinoid Tumor
Carcinoid Tumor
phenotype Neoplasms Neoplastic Process 267 3 0.100 None 0
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE
phenotype Finding 108 0.100 None 0
CUI: C0041834
Disease: Erythema
Erythema
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 227 8 0.100 None 0
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE
phenotype Finding 137 0.100 None 0
Familial Atypical Mole Melanoma Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 30 3 0.300 None 0
CUI: C0005398
Disease: Cholestasis, Extrahepatic
Cholestasis, Extrahepatic
disease Digestive System Diseases Disease or Syndrome 87 0.100 None 0
CUI: C3808022
Disease: Episodic abdominal pain
Episodic abdominal pain
phenotype Pathological Conditions, Signs and Symptoms Finding 39 3 0.100 None 0
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 62 27 0.100 None 0
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome
group Infections; Immune System Diseases Disease or Syndrome 243 42 0.010 None 1.000 1 1988 1988
CUI: C0278721
Disease: Adult Lymphoblastic Lymphoma
Adult Lymphoblastic Lymphoma
disease Neoplastic Process 85 4 0.010 None 1.000 1 1995 1995
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 1995 1995
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 363 9 0.010 None 1.000 1 1995 1995
Precursor cell lymphoblastic lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 88 4 0.010 None 1.000 1 1995 1995
CUI: C0279525
Disease: Childhood Lymphoblastic Lymphoma
Childhood Lymphoblastic Lymphoma
disease Neoplastic Process 85 4 0.010 None 1.000 1 1995 1995
CUI: C1519346
Disease: Skin Carcinogenesis
Skin Carcinogenesis
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 194 7 0.010 None 1.000 1 1995 1995
CUI: C0750952
Disease: Biliary Tract Cancer
Biliary Tract Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 167 11 0.010 None 1.000 1 1995 1995
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
disease Neoplasms Neoplastic Process 385 8 0.020 None 1.000 2 1996 1996
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 145 21 0.020 None 1.000 2 1995 1996