PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
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: C0152438
Disease: Sprengel deformity
Sprengel deformity
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 29 4 0.100 None 0
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 25 5 0.100 None 0
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease Anatomical Abnormality 190 12 0.100 None 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.100 None 0
CUI: C0231678
Disease: Ulnar deviation of the wrist
Ulnar deviation of the wrist
phenotype Sign or Symptom 14 9 0.100 None 0
CUI: C1860344
Disease: Hypoplastic iris stroma
Hypoplastic iris stroma
phenotype Finding 7 0.100 None 0
CUI: C0231679
Disease: Ulnar deviation of the fingers
Ulnar deviation of the fingers
phenotype Finding 31 0.100 None 0
CUI: C0026034
Disease: Microstomia
Microstomia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 172 9 0.100 None 0
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype Congenital Abnormality 79 8 0.100 None 0
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0
CUI: C0239804
Disease: White hair
White hair
phenotype Finding 18 0.100 None 0
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla
disease Congenital Abnormality 113 5 0.100 None 0
CUI: C0240953
Disease: Winged scapula
Winged scapula
phenotype Finding 73 3 0.100 None 0
CUI: C0241521
Disease: Ulnar deviation of hand
Ulnar deviation of hand
phenotype Musculoskeletal Diseases Finding 12 2 0.100 None 0
CUI: C0263498
Disease: Premature canities
Premature canities
phenotype Finding 33 4 0.100 None 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 590 77 0.100 None 0
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 160 7 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose
phenotype Finding 265 23 0.100 None 0
CUI: C1836193
Disease: Synostosis of carpal bones
Synostosis of carpal bones
phenotype Finding 23 0.100 None 0
CUI: C1841990
Disease: Aplasia of the vagina
Aplasia of the vagina
phenotype Finding 2 0.100 None 0
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand
disease Musculoskeletal Diseases Anatomical Abnormality 55 5 0.100 None 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge
phenotype Finding 117 1 0.100 None 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype Musculoskeletal Diseases Sign or Symptom 163 14 0.100 None 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion
phenotype Finding 79 8 0.100 None 0
CUI: C1837463
Disease: Narrow face
Narrow face
phenotype Finding 87 6 0.100 None 0