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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.060 None 1.000 6 2011 2019
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group Anatomical Abnormality 37 3 0.020 None 0.500 2 2001 2017
CUI: C0018498
Disease: Hair Color
Hair Color
phenotype Organism Attribute 130 312 0.100 None 1.000 1 3 2018 2018
CUI: C0220645
Disease: Childhood Soft Tissue Sarcoma
Childhood Soft Tissue Sarcoma
disease Neoplastic Process 166 3 0.010 None 1.000 1 2015 2015
CUI: C0220810
Disease: Congenital defects
Congenital defects
group Congenital Abnormality 126 6 0.010 None 1.000 1 2004 2004
CUI: C0312414
Disease: Menstrual spotting
Menstrual spotting
phenotype Sign or Symptom 27 2 0.010 None 1.000 1 2017 2017
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2017 2017
CUI: C0582591
Disease: Processing speed
Processing speed
phenotype Mental Process 7 15 0.100 None 1.000 1 1 2016 2016
CUI: C1402291
Disease: Pigmented lesions
Pigmented lesions
disease Disease or Syndrome 18 3 0.010 None 1.000 1 2008 2008
CUI: C1511789
Disease: Desmoplastic
Desmoplastic
disease Disease or Syndrome 117 4 0.010 None 1.000 1 2019 2019
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2005 2005
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.010 None 1.000 1 1996 1996
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma
disease Neoplastic Process 87 9 0.010 None 1.000 1 2016 2016
CUI: C4048700
Disease: Sclerosing rhabdomyosarcoma
Sclerosing rhabdomyosarcoma
disease Neoplastic Process 9 0.010 None < 0.001 1 2005 2005
CUI: C0231678
Disease: Ulnar deviation of the wrist
Ulnar deviation of the wrist
phenotype Sign or Symptom 14 9 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: 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: C0263498
Disease: Premature canities
Premature canities
phenotype Finding 33 4 0.100 None 0
Flexion contracture of proximal interphalangeal joint
phenotype Finding 168 7 0.100 None 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 391 49 0.100 None 0
CUI: C0431863
Disease: Carpal synostosis
Carpal synostosis
disease Congenital Abnormality 15 0.100 None 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation
phenotype Cell or Molecular Dysfunction 151 0.100 None 0