DVL3, dishevelled segment polarity protein 3, 1857

N. diseases: 167; 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: C0265856
Disease: Hypoplasia of right heart
Hypoplasia of right heart
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 1 0.100 None 0
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
disease Disease or Syndrome 2 6 0.400 strong 1.000 2 5 2016 2018
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
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 3 11 0.100 None 1.000 1 5 2016 2016
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
disease Disease or Syndrome 3 18 0.100 None 0 1
Robinow Syndrome, Autosomal Dominant
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 4 0.320 None 1.000 2 2016 2018
Duplication of the distal phalanx of hand
phenotype Finding 4 0.100 None 0
CUI: C4021772
Disease: Bifid distal phalanx of toe
Bifid distal phalanx of toe
disease Anatomical Abnormality 4 0.100 None 0
CUI: C4022477
Disease: Onychogryposis of fingernail
Onychogryposis of fingernail
phenotype Finding 4 0.100 None 0
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: C4023918
Disease: Short hard palate
Short hard palate
disease Anatomical Abnormality 7 4 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: C1865038
Disease: Broad toe
Broad toe
phenotype Finding 11 2 0.100 None 0
CUI: C4020952
Disease: Fingernail dysplasia
Fingernail dysplasia
disease Disease or Syndrome 11 0.100 None 0
CUI: C1849341
Disease: Triangular mouth
Triangular mouth
phenotype Finding 14 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
Short middle phalanx of the 5th finger
phenotype Finding 17 0.100 None 0
CUI: C0019288
Disease: Hernia, Femoral
Hernia, Femoral
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 18 0.100 None 0
Congenital atresia of pulmonary artery
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 19 5 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 0.540 None 1.000 4 2016 2018
CUI: C0266298
Disease: Accessory kidney
Accessory kidney
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 20 1 0.100 None 0
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: C0549306
Disease: Mesomelia
Mesomelia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 27 4 0.100 None 0