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: C0020437
Disease: Hypercalcemia
Hypercalcemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 157 9 0.100 None 0
CUI: C0017689
Disease: Glucagonoma
Glucagonoma 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 23 1 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: C4021976
Disease: Abnormality of the lymphatic system
Abnormality of the lymphatic system 		disease Anatomical Abnormality 16 0.100 None 0
CUI: C1306214
Disease: ACTH-Secreting Pituitary Adenoma
ACTH-Secreting Pituitary Adenoma 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 67 5 0.100 None 0
CUI: C0043515
Disease: Zollinger-Ellison syndrome
Zollinger-Ellison syndrome 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 20 0.100 None 0
CUI: C0007095
Disease: Carcinoid Tumor
Carcinoid Tumor 		phenotype Neoplasms Neoplastic Process 267 3 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: 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: 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: C0011991
Disease: Diarrhea
Diarrhea 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 632 63 0.100 None 0
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		phenotype Sign or Symptom 116 7 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: C1403035
Disease: Subcutaneous lipoma
Subcutaneous lipoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 10 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: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 156 9 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: C0014868
Disease: Esophagitis
Esophagitis 		disease Digestive System Diseases Disease or Syndrome 105 7 0.100 None 0
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 111 14 0.100 None 0
CUI: C2314896
Disease: Familial Atypical Mole Melanoma Syndrome
Familial Atypical Mole Melanoma Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 30 3 0.300 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: C1864903
Disease: Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 52 6 0.100 None 0
CUI: C0857973
Disease: Elevated circulating parathyroid hormone level
Elevated circulating parathyroid hormone level 		phenotype Finding 18 1 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