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: 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: C4021976
Disease: Abnormality of the lymphatic system
Abnormality of the lymphatic system 		disease Anatomical Abnormality 16 0.100 None 0
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		phenotype Sign or Symptom 116 7 0.100 None 0
CUI: C0005398
Disease: Cholestasis, Extrahepatic
Cholestasis, Extrahepatic 		disease Digestive System Diseases Disease or Syndrome 87 0.100 None 0
CUI: C0271844
Disease: Parathyroid hyperplasia
Parathyroid hyperplasia 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 37 1 0.100 None 0
CUI: C0151468
Disease: Thyroid Gland Follicular Adenoma
Thyroid Gland Follicular Adenoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 202 14 0.100 None 0
CUI: C0206731
Disease: Angiofibroma
Angiofibroma 		disease Neoplasms Neoplastic Process 45 1 0.100 None 0
CUI: C0151908
Disease: Dry skin
Dry skin 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 159 12 0.100 None 0
CUI: C4025651
Disease: Increased circulating cortisol level
Increased circulating cortisol level 		phenotype Finding 11 0.100 None 0
CUI: C0016689
Disease: Freckles
Freckles 		phenotype Skin and Connective Tissue Diseases Finding 45 10 0.100 None 0
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 156 9 0.100 None 0
CUI: C4018860
Disease: Pituitary growth hormone cell adenoma
Pituitary growth hormone cell adenoma 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 8 0.100 None 0
CUI: C0235986
Disease: Growth hormone excess
Growth hormone excess 		phenotype Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Finding 20 0.100 None 0
CUI: C0040100
Disease: Thymoma
Thymoma 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 291 20 0.100 None 0
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 281 46 0.100 None 0
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		disease Disease or Syndrome 985 56 0.020 None 1.000 2 1988 2009
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 473 21 0.020 None 1.000 2 1988 2008
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: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.970 197 1 1994 2020
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 3111 6892 0.100 None 0.949 39 1994 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.100 None 0.971 35 1994 2018
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.100 None 0.968 31 1994 2017
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.200 None 0.964 28 1 1994 2019
CUI: C0023418
Disease: leukemia
leukemia 		disease Neoplasms Neoplastic Process 2111 144 0.100 None 0.923 26 1994 2018
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1096 261 0.100 None 0.960 25 1 1994 2017