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: C0038219
Disease: Status Dysraphicus
Status Dysraphicus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 12 0.300 None 1.000 4 1984 2007
CUI: C0265541
Disease: Cranioschisis
Cranioschisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 12 0.300 None 1.000 1 1995 1995
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 12 11 0.010 None 1.000 1 1995 1995
CUI: C0241521
Disease: Ulnar deviation of hand
Ulnar deviation of hand 		phenotype Musculoskeletal Diseases Finding 12 2 0.100 None 0
CUI: C0344312
Disease: White forelock
White forelock 		phenotype Skin and Connective Tissue Diseases Finding 12 1 0.100 None 0
CUI: C0345397
Disease: Accessory rib
Accessory rib 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 12 0.100 None 0
CUI: C0151491
Disease: Congenital musculoskeletal anomalies
Congenital musculoskeletal anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 14 0.010 None 1.000 1 2001 2001
CUI: C0231678
Disease: Ulnar deviation of the wrist
Ulnar deviation of the wrist 		phenotype Sign or Symptom 14 9 0.100 None 0
CUI: C0266508
Disease: Rachischisis
Rachischisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 15 0.300 None 1.000 4 1984 2007
CUI: C0018566
Disease: Congenital Hand Deformities
Congenital Hand Deformities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 15 0.300 None 1.000 1 2003 2003
CUI: C0431863
Disease: Carpal synostosis
Carpal synostosis 		disease Congenital Abnormality 15 0.100 None 0
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 16 46 1.000 definitive 0.987 75 43 1983 2019
CUI: C0423318
Disease: Heterochromia iridis
Heterochromia iridis 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases Finding 17 10 0.100 None 0
CUI: C1402291
Disease: Pigmented lesions
Pigmented lesions 		disease Disease or Syndrome 18 3 0.010 None 1.000 1 2008 2008
CUI: C0239804
Disease: White hair
White hair 		phenotype Finding 18 0.100 None 0
CUI: C0151891
Disease: Retinal depigmentation
Retinal depigmentation 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 19 5 0.100 None 0
CUI: C0086395
Disease: Hearing Loss, Extreme
Hearing Loss, Extreme 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 20 0.300 None 1.000 1 2003 2003
CUI: C0581883
Disease: Complete Hearing Loss
Complete Hearing Loss 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 20 0.300 None 1.000 1 2003 2003
CUI: C0751068
Disease: Deafness, Acquired
Deafness, Acquired 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 20 0.300 None 1.000 1 2003 2003
CUI: C3665473
Disease: Bilateral Deafness
Bilateral Deafness 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 20 0.300 None 1.000 1 2003 2003
CUI: C4082305
Disease: Deaf Mutism
Deaf Mutism 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 20 0.300 None 1.000 1 2003 2003
CUI: C4021254
Disease: Cutaneous finger syndactyly
Cutaneous finger syndactyly 		disease Congenital Abnormality 20 1 0.100 None 0
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 21 8 0.800 definitive 1.000 59 2 1992 2018
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 22 2 0.300 None 1.000 1 2003 2003
CUI: C4551722
Disease: Encephalocele
Encephalocele 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Congenital Abnormality 23 7 0.010 None < 0.001 1 2017 2017