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: C1836736
Disease: White eyelashes
White eyelashes
phenotype 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: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch
phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C1836193
Disease: Synostosis of carpal bones
Synostosis of carpal bones
phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C4551564
Disease: Narrow nasal bridge
Narrow nasal bridge
phenotype 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
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum
phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge
phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
Ulnar deviation of the hand or of fingers of the hand
phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C4021801
Disease: Lacrimation abnormality
Lacrimation abnormality
disease 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C4021813
Disease: Oral cleft
Oral cleft
disease 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: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 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: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 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: C1860344
Disease: Hypoplastic iris stroma
Hypoplastic iris stroma
phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow
phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C1853241
Disease: Flat face
Flat face
phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype 0.100 None 0 0