CDKN2C, cyclin dependent kinase inhibitor 2C, 1031

N. diseases: 149; N. variants: 4
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: C1295677
Disease: Increased glucagon level
Increased glucagon level 		phenotype Finding 6 0.100 None 0
CUI: C1851705
Disease: Confetti-like hypopigmented macules
Confetti-like hypopigmented macules 		phenotype Finding 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: C4023068
Disease: Increased urinary cortisol level
Increased urinary cortisol level 		phenotype Nutritional and Metabolic Diseases Finding 8 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: C1864954
Disease: Fasting hyperinsulinemia
Fasting hyperinsulinemia 		phenotype Nutritional and Metabolic Diseases Finding 10 0.100 None 0
CUI: C4025651
Disease: Increased circulating cortisol level
Increased circulating cortisol level 		phenotype Finding 11 0.100 None 0
CUI: C0085395
Disease: Ureaplasma Infections
Ureaplasma Infections 		group Infections Disease or Syndrome 12 0.010 None 1.000 1 2017 2017
CUI: C0153653
Disease: Malignant tumor of parathyroid gland
Malignant tumor of parathyroid gland 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 13 1 0.010 None 1.000 1 2013 2013
CUI: C0857973
Disease: Elevated circulating parathyroid hormone level
Elevated circulating parathyroid hormone level 		phenotype Finding 18 1 0.100 None 0
CUI: C0332447
Disease: Morphologically abnormal structure (morphologic abnormality)
Morphologically abnormal structure (morphologic abnormality) 		group Anatomical Abnormality 20 0.010 None 1.000 1 2005 2005
CUI: C0043515
Disease: Zollinger-Ellison syndrome
Zollinger-Ellison syndrome 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 20 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: C1833929
Disease: THYROID CARCINOMA, SPORADIC MEDULLARY
THYROID CARCINOMA, SPORADIC MEDULLARY 		disease Neoplastic Process 22 11 0.030 None 1.000 3 2014 2020
CUI: C0023092
Disease: Lassa Fever
Lassa Fever 		disease Infections Disease or Syndrome 22 0.010 None 1.000 1 2012 2012
CUI: C0919909
Disease: Tonic clonic movements
Tonic clonic movements 		disease Disease or Syndrome 22 0.010 None 1.000 1 2016 2016
CUI: C0017689
Disease: Glucagonoma
Glucagonoma 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 23 1 0.100 None 0
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 24 13 0.010 None 1.000 1 2019 2019
CUI: C1859726
Disease: ARTERIAL TORTUOSITY SYNDROME
ARTERIAL TORTUOSITY SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 37 23 0.010 None 1.000 1 2018 2018
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: C0206717
Disease: Olfactory Neuroblastoma
Olfactory Neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 38 0.010 None 1.000 1 2016 2016
CUI: C3808022
Disease: Episodic abdominal pain
Episodic abdominal pain 		phenotype Pathological Conditions, Signs and Symptoms Finding 39 3 0.100 None 0
CUI: C1531608
Disease: Smoldering myeloma
Smoldering myeloma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 41 1 0.010 None 1.000 1 2008 2008
CUI: C0206731
Disease: Angiofibroma
Angiofibroma 		disease Neoplasms Neoplastic Process 45 1 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