LRP5, LDL receptor related protein 5, 4041

N. diseases: 283; N. variants: 99
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: C0432252
Disease: Osteoporosis with pseudoglioma
Osteoporosis with pseudoglioma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 12 37 1.000 None 1.000 30 37 2001 2017
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.900 strong 0.976 41 9 2004 2019
CUI: C1866176
Disease: EXUDATIVE VITREORETINOPATHY 4 (disorder)
EXUDATIVE VITREORETINOPATHY 4 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 22 0.700 None 1.000 10 22 2001 2017
CUI: C1843330
Disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 1
OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 		disease Musculoskeletal Diseases Disease or Syndrome 1 4 0.700 strong 1.000 4 4 2001 2017
CUI: C1843323
Disease: Van Buchem disease type 2
Van Buchem disease type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 1 0.700 strong 1.000 2 1 2003 2017
CUI: C0432273
Disease: Worth disease
Worth disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 3 0.700 strong 1.000 2 3 2001 2003
CUI: C1866079
Disease: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1 		phenotype Finding 1 2 0.600 strong 1.000 8 2 2001 2007
CUI: C4693479
Disease: POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS
POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS 		disease Disease or Syndrome 1 7 0.600 strong 1.000 3 7 2014 2017
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 6 28 0.520 None 1.000 3 4 2004 2016
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		disease Congenital Abnormality 19 18 0.500 None 1.000 28 3 2000 2019
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Disease or Syndrome 38 17 0.400 None 1.000 1 1 2014 2014
CUI: C0432272
Disease: Van Buchem disease
Van Buchem disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 24 2 0.330 None 1.000 4 2003 2018
CUI: C0029459
Disease: Osteoporosis, Senile
Osteoporosis, Senile 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 73 3 0.310 None 1.000 1 1996 1996
CUI: C0035344
Disease: Retinopathy of Prematurity
Retinopathy of Prematurity 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 202 16 0.310 None < 0.001 1 2013 2013
CUI: C0151879
Disease: Shortened QT interval
Shortened QT interval 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 13 0.300 limited 1.000 1 2019 2019
CUI: C0242852
Disease: Proliferative vitreoretinopathy
Proliferative vitreoretinopathy 		disease Eye Diseases Disease or Syndrome 142 14 0.300 None 1.000 1 2008 2008
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.300 strong 1.000 1 2017 2017
CUI: C0001787
Disease: Osteoporosis, Age-Related
Osteoporosis, Age-Related 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 89 0.300 None 0
CUI: C0751406
Disease: Post-Traumatic Osteoporosis
Post-Traumatic Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 61 0.300 None 0
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 276 54 0.210 None 1.000 2 2016 2019
CUI: C0015814
Disease: Femur Head Necrosis
Femur Head Necrosis 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 8 0.200 None 1.000 1 2014 2014
CUI: C0039503
Disease: Tendinitis
Tendinitis 		disease Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome 18 0.200 None 1.000 1 2013 2013
CUI: C0004608
Disease: Retinopathy background
Retinopathy background 		disease Eye Diseases Disease or Syndrome 4 0.200 None 0
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.140 None 1.000 4 4 2008 2019
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis 		disease Musculoskeletal Diseases Disease or Syndrome 74 5 0.130 None 0.667 3 2002 2013