Source: HPO

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: 30813
Gene Symbol: VSX1
VSX1
visual system homeobox 1 0.579 0.692 3.6E-02
CUI: C0022578
Disease: Keratoconus
Keratoconus
disease 0.500 None 0.871 0 0 2002 2019
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
visual system homeobox 1 0.579 0.692 3.6E-02
CUI: C0004106
Disease: Astigmatism
Astigmatism
disease 0.100 None 0 0
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
visual system homeobox 1 0.579 0.692 3.6E-02
Abnormal corneal endothelium morphology
disease 0.100 None 0 0
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
visual system homeobox 1 0.579 0.692 3.6E-02
CUI: C3554568
Disease: Young adult onset
Young adult onset
phenotype 0.100 None 0 0
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
visual system homeobox 1 0.579 0.692 3.6E-02
CUI: C1857353
Disease: Posterior fossa cyst
Posterior fossa cyst
phenotype 0.100 None 0 0
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
visual system homeobox 1 0.579 0.692 3.6E-02
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear
disease 0.100 None 0 0
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
visual system homeobox 1 0.579 0.692 3.6E-02
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal
phenotype 0.100 None 0 0
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
visual system homeobox 1 0.579 0.692 3.6E-02
Congenital ear anomaly NOS (disorder)
group 0.100 None 0 0
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
visual system homeobox 1 0.579 0.692 3.6E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
visual system homeobox 1 0.579 0.692 3.6E-02
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.100 None 0 0
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
visual system homeobox 1 0.579 0.692 3.6E-02
CUI: C4024948
Disease: Anterior encephalocele
Anterior encephalocele
disease 0.100 None 0 0