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
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: C4025846
Disease: Abnormality of vision
Abnormality of vision
disease 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C0345397
Disease: Accessory rib
Accessory rib
disease 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis
phenotype 0.100 None 0 0
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: 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: 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: 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
Aplasia/Hypoplasia involving the nose
phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C0004144
Disease: Atelectasis
Atelectasis
phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C0344511
Disease: Atresia of nasolacrimal duct
Atresia of nasolacrimal duct
disease 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
group 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
Autosomal dominant contiguous gene syndrome
disease 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding)
phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C0431863
Disease: Carpal synostosis
Carpal synostosis
disease 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion
disease 0.100 None 0 0
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: C0008924
Disease: Cleft upper lip
Cleft upper lip
disease 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers
disease 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C1261470
Disease: Congenital meningocele
Congenital meningocele
disease 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
Congenital sensorineural hearing loss
disease 0.110 None 1.000 0 0 1999 1999