CDKN1C, cyclin dependent kinase inhibitor 1C, 1028

N. diseases: 298; N. variants: 32
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: C0265294
Disease: Pyle metaphyseal dysplasia
Pyle metaphyseal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 25 5 0.100 None 0
CUI: C1859977
Disease: Adrenal Hypoplasia, Cytomegalic Type
Adrenal Hypoplasia, Cytomegalic Type 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1 0.300 None 0
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease Disease or Syndrome 168 27 0.100 None 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
CUI: C1969144
Disease: Renal cortical cysts
Renal cortical cysts 		phenotype Finding 14 1 0.100 None 0
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 267 11 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C1851733
Disease: Pancreatic hyperplasia
Pancreatic hyperplasia 		phenotype Finding 6 0.100 None 0
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 27 0.100 None 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		phenotype Finding 228 0.100 None 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		disease Eye Diseases Disease or Syndrome 225 12 0.100 None 0
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 242 99 0.100 None 0
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		phenotype Finding 77 3 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 187 23 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 0
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 157 9 0.100 None 0
CUI: C0020438
Disease: Hypercalciuria
Hypercalciuria 		phenotype Pathological Conditions, Signs and Symptoms Finding 60 5 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.100 None 0
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		group Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 221 7 0.300 limited 0
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 154 14 0.100 None 0
CUI: C0025995
Disease: Micromelia
Micromelia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 104 1 0.100 None 0
CUI: C1846223
Disease: Adrenal hypoplasia
Adrenal hypoplasia 		phenotype Finding 23 1 0.100 None 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype Pathological Conditions, Signs and Symptoms Finding 194 33 0.100 None 0