Source: INFERRED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		disease 1.000 definitive 0.987 1 41 1983 2019
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		disease 1.000 None 0.983 0 0 1993 2019
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		disease 0.800 definitive 1.000 6 2 1992 2018
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		disease 0.750 definitive 1.000 0 4 1993 2018
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C1852510
Disease: Craniofacial deafness hand syndrome
Craniofacial deafness hand syndrome 		disease 0.710 None 1.000 0 1 1983 2018
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		disease 0.480 None 0.909 0 0 1984 2017
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		disease 0.170 None 1.000 0 0 1994 2019
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C0080024
Disease: Piebaldism
Piebaldism 		disease 0.120 None 1.000 0 0 1991 1994
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		disease 0.110 None 1.000 1 1 2018 2020
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.110 None 1.000 0 0 2004 2004
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		disease 0.110 None 1.000 0 0 1999 1999
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C0038379
Disease: Strabismus
Strabismus 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.110 None 1.000 0 1 2015 2015
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.110 None 1.000 0 1 2016 2016
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C0582591
Disease: Processing speed
Processing speed 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C0002170
Disease: Alopecia
Alopecia 		disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C0018498
Disease: Hair Color
Hair Color 		phenotype 0.100 None 1.000 1 3 2018 2018
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		disease 0.100 None 1.000 1 1 2012 2012
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C4021254
Disease: Cutaneous finger syndactyly
Cutaneous finger syndactyly 		disease 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C1841990
Disease: Aplasia of the vagina
Aplasia of the vagina 		phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C1836737
Disease: White eyebrow
White eyebrow 		phenotype 0.100 None 0 0