CDKN1B, cyclin dependent kinase inhibitor 1B, 1027

N. diseases: 454; N. variants: 20
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.
Malignant neoplasm of pituitary gland
disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 2 0.010 None 1.000 1 1998 1998
Small Intestinal Neuroendocrine Neoplasm
disease Neoplastic Process 2 1 0.300 None 0
CUI: C4274947
Disease: Multiple endocrine neoplasia type 4
Multiple endocrine neoplasia type 4
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 3 0.330 definitive 1.000 12 1996 2019
CUI: C0854792
Disease: Bile duct cancer resectable
Bile duct cancer resectable
disease Neoplastic Process 3 0.010 None 1.000 1 1999 1999
CUI: C1295677
Disease: Increased glucagon level
Increased glucagon level
phenotype Finding 6 0.100 None 0
CUI: C0271846
Disease: Familial hyperparathyroidism
Familial hyperparathyroidism
disease Endocrine System Diseases Disease or Syndrome 7 1 0.010 None 1.000 1 2015 2015
CUI: C0334317
Disease: Cystadenofibroma
Cystadenofibroma
disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2009 2009
CUI: C1851705
Disease: Confetti-like hypopigmented macules
Confetti-like hypopigmented macules
phenotype Finding 8 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: C4023068
Disease: Increased urinary cortisol level
Increased urinary cortisol level
phenotype Nutritional and Metabolic Diseases Finding 8 0.100 None 0
CUI: C4744712
Disease: Advanced Prostate Carcinoma
Advanced Prostate Carcinoma
disease Neoplastic Process 9 0.010 None 1.000 1 2003 2003
Familial Isolated Hyperparathyroidism
disease Endocrine System Diseases Disease or Syndrome 10 4 0.020 None 1.000 2 2013 2017
CUI: C1403035
Disease: Subcutaneous lipoma
Subcutaneous lipoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 10 0.100 None 0
CUI: C1864954
Disease: Fasting hyperinsulinemia
Fasting hyperinsulinemia
phenotype Nutritional and Metabolic Diseases Finding 10 0.100 None 0
CUI: C0002690
Disease: Amputation Stumps
Amputation Stumps
disease Acquired Abnormality 11 0.010 None 1.000 1 2015 2015
CUI: C3272399
Disease: Gastric Neuroendocrine Tumor
Gastric Neuroendocrine Tumor
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 11 0.010 None 1.000 1 2018 2018
Increased circulating cortisol level
phenotype Finding 11 0.100 None 0
Hyperparathyroidism-Jaw Tumor Syndrome
disease Neoplasms; Musculoskeletal Diseases; Endocrine System Diseases; Stomatognathic Diseases Neoplastic Process 12 7 0.030 None 1.000 3 2015 2017
CUI: C0581377
Disease: Decompensated cardiac failure
Decompensated cardiac failure
disease Cardiovascular Diseases Disease or Syndrome 12 0.010 None 1.000 1 2018 2018
Adult Systemic Anaplastic Large Cell Lymphoma
disease Neoplastic Process 12 0.010 None 1.000 1 2003 2003
Multiple Endocrine Neoplasia, Type IV
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 13 23 0.790 definitive 1.000 17 9 1996 2019
Multiple Endocrine Neoplasia Type 2b
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 13 21 0.010 None 1.000 1 2014 2014
CUI: C0346300
Disease: Pituitary carcinoma
Pituitary carcinoma
disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 13 1 0.300 None 1.000 1 2006 2006
CUI: C4520841
Disease: Pure Erythroid Leukemia
Pure Erythroid Leukemia
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 13 0.010 None 1.000 1 2006 2006
CUI: C0280089
Disease: Carcinoid tumor of lung
Carcinoid tumor of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 14 0.100 None 0