Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		1.000 GeneticVariation CLINVAR Waardenburg syndrome: Novel mutations in a large Brazilian sample. 29407415

2018
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		1.000 Biomarker HPO

Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		1.000 CausalMutation CLINVAR

Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 CausalMutation CLINVAR Molecular Etiology of Hereditary Single-Side Deafness: Its Association With Pigmentary Disorders and Waardenburg Syndrome. 26512583

2015
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 CausalMutation CLINVAR Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. 9654197

1998
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 CausalMutation CLINVAR Three mutations in the paired homeodomain of PAX3 that cause Waardenburg syndrome type 1. 9017978

1997
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 CausalMutation CLINVAR The mutational spectrum in Waardenburg syndrome. 8589691

1995
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 CausalMutation CLINVAR Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. 8533800

1995
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 CausalMutation CLINVAR Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium. 1349198

1992
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		0.750 CausalMutation CLINVAR

Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C1852510
Disease: Craniofacial deafness hand syndrome
Craniofacial deafness hand syndrome 		0.710 CausalMutation CLINVAR

Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.480 Biomarker HPO

Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.170 Biomarker HPO

Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C0080024
Disease: Piebaldism
Piebaldism 		0.120 Biomarker HPO

Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.110 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117

2018
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.110 Biomarker HPO

Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.110 GeneticVariation CLINVAR

Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.110 Biomarker HPO

Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C0038379
Disease: Strabismus
Strabismus 		0.110 Biomarker HPO

Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.110 Biomarker HPO

Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.110 GeneticVariation CLINVAR

Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		0.110 Biomarker HPO

Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker HPO

Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C0018498
Disease: Hair Color
Hair Color 		0.100 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825

2018
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.100 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117

2018