VDR, vitamin D receptor, 7421

N. diseases: 852; N. variants: 81
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: C4302195
Disease: Hypocalcemic rickets
Hypocalcemic rickets
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1 0.020 None 1.000 2 1988 2015
CUI: C4510147
Disease: Graves' disease in remission
Graves' disease in remission
disease Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1 0.020 None 1.000 2 2000 2000
[X]Spinal osteochondrosis, unspecified
disease Musculoskeletal Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C0856247
Disease: Lumbar spine degeneration
Lumbar spine degeneration
disease Disease or Syndrome 1 0.010 None 1.000 1 2001 2001
CUI: C0948755
Disease: Pulmonary failure
Pulmonary failure
disease Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C1321580
Disease: Trichobezoar disorder
Trichobezoar disorder
disease Wounds and Injuries Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
Osteomalacia due to vitamin D deficiency
disease Disease or Syndrome 1 0.010 None 1.000 1 2009 2009
Vitamin D-Dependent Rickets, Type 2A
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 2 15 0.730 strong 1.000 16 15 1988 2020
CUI: C4330845
Disease: Nutritional Rickets
Nutritional Rickets
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 2 0.020 None 1.000 2 2000 2006
CUI: C0011330
Disease: Dental Calculus
Dental Calculus
phenotype Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Finding 2 0.010 None 1.000 1 2007 2007
Prostatic disorders (excl infections and inflammations)
disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C1262307
Disease: High turnover bone disease
High turnover bone disease
disease Disease or Syndrome 2 0.010 None 1.000 1 1998 1998
CUI: C1442839
Disease: Hypervitaminosis D
Hypervitaminosis D
disease Disease or Syndrome 2 0.010 None 1.000 1 2009 2009
CUI: C3160951
Disease: Hepatitis flare
Hepatitis flare
disease Disease or Syndrome 2 0.010 None 1.000 1 2010 2010
CUI: C0042018
Disease: Urinary Calculi
Urinary Calculi
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Body Substance 3 0.010 None 1.000 1 2005 2005
CUI: C0339941
Disease: Acute viral bronchiolitis
Acute viral bronchiolitis
disease Disease or Syndrome 3 0.010 None 1.000 1 2015 2015
Temporomandibular joint internal derangement
phenotype Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 3 0.010 None 1.000 1 2018 2018
CUI: C0524801
Disease: Retinal Neoplasms
Retinal Neoplasms
group Neoplasms; Eye Diseases Neoplastic Process 3 0.010 None 1.000 1 2003 2003
Increased serum 1,25-dihydroxyvitamin D3
phenotype Finding 3 0.100 None 0
CUI: C4476534
Disease: Subperiosteal bone resorption
Subperiosteal bone resorption
phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C0410445
Disease: Osteomalacia secondary to drug
Osteomalacia secondary to drug
disease Disease or Syndrome 4 0.010 None 1.000 1 2006 2006
CUI: C1336050
Disease: Spinal Degenerative Disorder
Spinal Degenerative Disorder
disease Disease or Syndrome 4 0.010 None 1.000 1 1998 1998
CUI: C1384641
Disease: Cervical spondylosis
Cervical spondylosis
disease Musculoskeletal Diseases Disease or Syndrome 4 1 0.010 None 1.000 1 2010 2010
Juvenile and adolescent idiopathic scoliosis
disease Musculoskeletal Diseases Anatomical Abnormality 4 0.010 None 1.000 1 2012 2012
CUI: C4552187
Disease: Cardiac iron overload
Cardiac iron overload
disease Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome 4 0.010 None 1.000 1 2018 2018