WNT1, Wnt family member 1, 7471

N. diseases: 216; N. variants: 12
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: C3808844
Disease: OSTEOGENESIS IMPERFECTA, TYPE XV
OSTEOGENESIS IMPERFECTA, TYPE XV
disease Disease or Syndrome 1 7 0.700 None 1.000 6 7 1990 2017
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16
phenotype Finding 1 3 0.400 None 1.000 1 3 1990 1990
CUI: C3824901
Disease: Osteoporosis in children
Osteoporosis in children
disease Disease or Syndrome 2 0.010 None 1.000 1 2016 2016
CUI: C0158663
Disease: Tongue absent
Tongue absent
disease Stomatognathic Diseases Congenital Abnormality 3 0.010 None 1.000 1 2017 2017
CUI: C0264080
Disease: Juvenile osteoporosis
Juvenile osteoporosis
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 4 0.300 None 1.000 1 2013 2013
Bowing of limbs due to multiple fractures
phenotype Finding 4 1 0.100 None 0
CUI: C0012746
Disease: Dissociative disorder
Dissociative disorder
group Mental Disorders Mental or Behavioral Dysfunction 6 1 0.010 None 1.000 1 2008 2008
CUI: C3666003
Disease: Transfusion dependent anaemia
Transfusion dependent anaemia
disease Disease or Syndrome 6 0.010 None 1.000 1 2008 2008
CUI: C0426824
Disease: Beading of ribs
Beading of ribs
disease Finding 7 1 0.100 None 0 1
CUI: C0266484
Disease: Schizencephaly
Schizencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 10 6 0.100 None 0
Osteogenesis imperfecta type IV (disorder)
disease Disease or Syndrome; Congenital Abnormality 12 65 0.310 None 1.000 2 2013 2015
CUI: C1704273
Disease: Endometrial Polyp
Endometrial Polyp
disease Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 16 0.010 None 1.000 1 2019 2019
Prieto X-linked mental retardation syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 0.010 None 1.000 1 2019 2019
CUI: C4551511
Disease: X-linked sideroblastic anemia
X-linked sideroblastic anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 16 23 0.010 None 1.000 1 2017 2017
Osteogenesis imperfecta type III (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 18 67 0.320 None 1.000 3 2013 2017
CUI: C0079487
Disease: Helicobacter Infections
Helicobacter Infections
group Infections Disease or Syndrome 18 0.010 None 1.000 1 2008 2008
Cleft palate and bilateral cleft lip
disease Congenital Abnormality 18 10 0.010 None 1.000 1 2017 2017
CUI: C0023321
Disease: Lentigo
Lentigo
disease Skin and Connective Tissue Diseases Disease or Syndrome 19 0.020 None 1.000 2 2014 2019
CUI: C0206674
Disease: Adenoma, Villous
Adenoma, Villous
disease Neoplasms Neoplastic Process 20 2 0.010 None 1.000 1 2010 2010
CUI: C0752355
Disease: Myotonia Fluctuans (disorder)
Myotonia Fluctuans (disorder)
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 21 1 0.010 None 1.000 1 2019 2019
CUI: C4087397
Disease: Mammary gland tumor
Mammary gland tumor
disease Neoplastic Process 22 2 0.010 None 1.000 1 2003 2003
CUI: C0025218
Disease: Chloasma
Chloasma
disease Skin and Connective Tissue Diseases Disease or Syndrome 25 0.010 None 1.000 1 2018 2018
CUI: C0267111
Disease: Gastric dysplasia
Gastric dysplasia
disease Digestive System Diseases; Neoplasms Disease or Syndrome 25 0.010 None 1.000 1 2013 2013
Compression fracture of vertebral column
phenotype Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Wounds and Injuries Pathologic Function 25 1 0.100 None 0
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons
phenotype Finding 30 3 0.100 None 0