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: C1852510
Disease: Craniofacial deafness hand syndrome
Craniofacial deafness hand syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 1 0.710 None 1.000 5 1 1983 2018
CUI: C0265681
Disease: Supernumerary vertebra
Supernumerary vertebra 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 0.100 None 0
CUI: C1841990
Disease: Aplasia of the vagina
Aplasia of the vagina 		phenotype Finding 2 0.100 None 0
CUI: C4025777
Disease: Autosomal dominant contiguous gene syndrome
Autosomal dominant contiguous gene syndrome 		disease Disease or Syndrome 2 0.100 None 0
CUI: C4316813
Disease: Dystopia canthorum
Dystopia canthorum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 0.040 None 1.000 4 1996 2015
CUI: C0334616
Disease: Malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation
Malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation 		disease Neoplasms; Nervous System Diseases Neoplastic Process 3 0.010 None 1.000 1 2016 2016
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 4 5 0.750 definitive 1.000 18 5 1993 2018
CUI: C1845027
Disease: Spina Bifida, X-Linked
Spina Bifida, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 0.200 None 1.000 1 2010 2010
CUI: C1866559
Disease: Spina Bifida, Folate-Sensitive
Spina Bifida, Folate-Sensitive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 0.200 None 1.000 1 2010 2010
CUI: C0344511
Disease: Atresia of nasolacrimal duct
Atresia of nasolacrimal duct 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 5 1 0.100 None 0
CUI: C1845026
Disease: Neural tube defects X-linked
Neural tube defects X-linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 0.200 None 1.000 1 2010 2010
CUI: C0582591
Disease: Processing speed
Processing speed 		phenotype Mental Process 7 15 0.100 None 1.000 1 1 2016 2016
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 7 26 0.010 None 1.000 1 2013 2013
CUI: C4054912
Disease: Fusion-Positive Alveolar Rhabdomyosarcoma
Fusion-Positive Alveolar Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2018 2018
CUI: C1836737
Disease: White eyebrow
White eyebrow 		phenotype Finding 7 0.100 None 0
CUI: C1860344
Disease: Hypoplastic iris stroma
Hypoplastic iris stroma 		phenotype Finding 7 0.100 None 0
CUI: C0599973
Disease: Waardenburg Anophthalmia Syndrome
Waardenburg Anophthalmia Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 8 10 0.300 None 1.000 3 1993 2003
CUI: C0684743
Disease: Malignant neoplasm of muscle
Malignant neoplasm of muscle 		disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 8 0.010 None 1.000 1 2005 2005
CUI: C1866558
Disease: Neural tube defect, folate-sensitive
Neural tube defect, folate-sensitive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 2 0.200 None 1.000 1 2010 2010
CUI: C1836736
Disease: White eyelashes
White eyelashes 		phenotype Finding 8 0.100 None 0
CUI: C4024159
Disease: Aplasia/Hypoplasia involving the nose
Aplasia/Hypoplasia involving the nose 		phenotype Finding 8 0.100 None 0
CUI: C2700265
Disease: Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 9 2 0.030 None 1.000 3 1 1998 2013
CUI: C4048700
Disease: Sclerosing rhabdomyosarcoma
Sclerosing rhabdomyosarcoma 		disease Neoplastic Process 9 0.010 None < 0.001 1 2005 2005
CUI: C1710096
Disease: Sinonasal undifferentiated carcinoma
Sinonasal undifferentiated carcinoma 		disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 11 8 0.300 None 1.000 1 2014 2014
CUI: C4048199
Disease: Ulnar deviation of the hand or of fingers of the hand
Ulnar deviation of the hand or of fingers of the hand 		phenotype Finding 11 0.100 None 0