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: C0426421
Disease: Wide nose
Wide nose
phenotype Finding 87 1 0.100 None 0
CUI: C0426428
Disease: Bifid nasal tip
Bifid nasal tip
phenotype Finding 10 0.100 None 0
CUI: C0426848
Disease: Sacral dimple
Sacral dimple
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 69 11 0.100 None 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear
disease Congenital Abnormality 176 23 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck
phenotype Finding 288 29 0.100 None 0
CUI: C0542514
Disease: Blue sclera
Blue sclera
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding 70 13 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0566899
Disease: Small labia majora
Small labia majora
phenotype Finding 35 3 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0
CUI: C1843108
Disease: Short palm
Short palm
phenotype Finding 110 13 0.100 None 0
CUI: C1968605
Disease: Limited elbow flexion/extension
Limited elbow flexion/extension
phenotype Finding 3 0.100 None 0
CUI: C1968607
Disease: Hypoplastic distal humeri
Hypoplastic distal humeri
phenotype Finding 2 0.100 None 0
CUI: C1969532
Disease: Rhizomelic arm shortening
Rhizomelic arm shortening
phenotype Finding 7 1 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: C3494422
Disease: Retrognathia
Retrognathia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 191 11 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C4020952
Disease: Fingernail dysplasia
Fingernail dysplasia
disease Disease or Syndrome 11 0.100 None 0
CUI: C4022477
Disease: Onychogryposis of fingernail
Onychogryposis of fingernail
phenotype Finding 4 0.100 None 0
CUI: C4025790
Disease: Specific learning disability
Specific learning disability
disease Mental or Behavioral Dysfunction 165 13 0.100 None 0
CUI: C4082304
Disease: Oligodontia
Oligodontia
disease Congenital Abnormality 62 34 0.100 None 0
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
disease Disease or Syndrome 2 6 0.100 None 0 1
CUI: C1866730
Disease: Rhizomelia
Rhizomelia
disease Congenital Abnormality 57 6 0.100 None 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth
phenotype Anatomical Abnormality 122 14 0.100 None 0
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype Finding 282 16 0.100 None 0