LRP6, LDL receptor related protein 6, 4040

N. diseases: 134; N. variants: 23
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: C1970440
Disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (disorder)
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 2 4 0.600 None 1.000 2 4 2007 2013
CUI: C4083050
Disease: Tooth agenesis
Tooth agenesis 		phenotype Finding 2 7 0.400 limited 1.000 1 7 2016 2016
CUI: C4225231
Disease: TOOTH AGENESIS, SELECTIVE, 7
TOOTH AGENESIS, SELECTIVE, 7 		disease Disease or Syndrome 2 3 0.600 None 1.000 1 3 2015 2015
CUI: C2750331
Disease: Enamel defects
Enamel defects 		phenotype Finding 2 1 0.100 None 0 1
CUI: C0342885
Disease: Secondary hypercholesterolemia
Secondary hypercholesterolemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C1845027
Disease: Spina Bifida, X-Linked
Spina Bifida, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 0.200 None 1.000 3 1965 2005
CUI: C1866559
Disease: Spina Bifida, Folate-Sensitive
Spina Bifida, Folate-Sensitive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 0.200 None 1.000 3 1965 2005
CUI: C1845026
Disease: Neural tube defects X-linked
Neural tube defects X-linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 0.200 None 1.000 3 1965 2005
CUI: C1866558
Disease: Neural tube defect, folate-sensitive
Neural tube defect, folate-sensitive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 2 0.200 None 1.000 3 1965 2005
CUI: C4755308
Disease: Familial cervical artery dissection
Familial cervical artery dissection 		disease Disease or Syndrome 9 2 0.010 None 1.000 1 1 2016 2016
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 0.020 None 1.000 2 2002 2017
CUI: C1290511
Disease: Anodontia of Permanent Dentition
Anodontia of Permanent Dentition 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 12 0.100 None 0
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 27 29 0.010 None 1.000 1 2018 2018
CUI: C0239337
Disease: Deformity of limb
Deformity of limb 		group Anatomical Abnormality 37 3 0.010 None 1.000 1 2004 2004
CUI: C0020492
Disease: Hyperostosis
Hyperostosis 		disease Musculoskeletal Diseases Disease or Syndrome 50 3 0.010 None 1.000 1 2019 2019
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 50 6 0.010 None 1.000 1 2019 2019
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 55 3 0.010 None 1.000 1 2019 2019
CUI: C4082304
Disease: Oligodontia
Oligodontia 		disease Congenital Abnormality 62 34 0.430 None 1.000 3 2015 2019
CUI: C0003175
Disease: Anthrax disease
Anthrax disease 		disease Infections Disease or Syndrome 66 3 0.010 None 1.000 1 2007 2007
CUI: C0740404
Disease: Limb defects
Limb defects 		group Congenital Abnormality 67 2 0.010 None 1.000 1 2004 2004
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth 		phenotype Finding 67 11 0.100 None 0 7
CUI: C4023106
Disease: Obstructive azoospermia
Obstructive azoospermia 		disease Male Urogenital Diseases Disease or Syndrome 74 9 0.010 None 1.000 1 2019 2019
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis 		disease Musculoskeletal Diseases Disease or Syndrome 82 1 0.010 None 1.000 1 2019 2019
CUI: C1384583
Disease: Congenital absence of germinal epithelium of testes
Congenital absence of germinal epithelium of testes 		disease Male Urogenital Diseases Congenital Abnormality 82 6 0.010 None 1.000 1 2019 2019
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality 90 91 0.010 None 1.000 1 2019 2019