FZD2, frizzled class receptor 2, 2535

N. diseases: 139; N. variants: 6
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: C2750355
Disease: Omodysplasia 2
Omodysplasia 2
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 2 0.710 strong 1.000 4 2 2015 2018
CUI: C1968607
Disease: Hypoplastic distal humeri
Hypoplastic distal humeri
phenotype Finding 2 0.100 None 0
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
disease Disease or Syndrome 2 6 0.100 None 0 1
CUI: C4510897
Disease: Omodysplasia
Omodysplasia
disease Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C1968605
Disease: Limited elbow flexion/extension
Limited elbow flexion/extension
phenotype Finding 3 0.100 None 0
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
disease Disease or Syndrome 3 18 0.100 None 0 4
CUI: C4022477
Disease: Onychogryposis of fingernail
Onychogryposis of fingernail
phenotype Finding 4 0.100 None 0
CUI: C0559483
Disease: Pentalogy of Cantrell
Pentalogy of Cantrell
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2011 2011
CUI: C1854409
Disease: Naevus flammeus of the eyelid
Naevus flammeus of the eyelid
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Finding 6 0.100 None 0
CUI: C1969532
Disease: Rhizomelic arm shortening
Rhizomelic arm shortening
phenotype Finding 7 1 0.100 None 0
CUI: C1303001
Disease: Congenital euryblepharon
Congenital euryblepharon
disease Congenital Abnormality 9 0.100 None 0
CUI: C1849392
Disease: Ridged fingernail
Ridged fingernail
phenotype Finding 9 0.100 None 0
CUI: C0426428
Disease: Bifid nasal tip
Bifid nasal tip
phenotype Finding 10 0.100 None 0
CUI: C4020952
Disease: Fingernail dysplasia
Fingernail dysplasia
disease Disease or Syndrome 11 0.100 None 0
CUI: C2673670
Disease: Curly eyelashes
Curly eyelashes
phenotype Finding 15 0.100 None 0
CUI: C2750604
Disease: Median cleft lip and palate
Median cleft lip and palate
disease Congenital Abnormality 15 0.100 None 0
CUI: C0019288
Disease: Hernia, Femoral
Hernia, Femoral
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 18 0.100 None 0
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal
phenotype Finding 18 1 0.100 None 0
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 20 3 0.500 strong 1.000 2 2015 2018
Avascular necrosis of the capital femoral epiphysis
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 23 0.100 None 0
CUI: C0266111
Disease: Bifid tongue
Bifid tongue
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 24 1 0.100 None 0
CUI: C1832117
Disease: Short humerus
Short humerus
phenotype Congenital Abnormality 24 0.100 None 0
Congenital dislocation of radial head
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 27 2 0.100 None 0
CUI: C0014588
Disease: Epispadias
Epispadias
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 30 0.100 None 0
CUI: C0341787
Disease: Bifid scrotum
Bifid scrotum
disease Congenital Abnormality 30 2 0.100 None 0