Source: GENOMICS_ENGLAND

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: 58499
Gene Symbol: ZNF462
ZNF462 		zinc finger protein 462 0.711 0.462 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.400 strong 1.000 1 0 2003 2003
Entrez Id: 58499
Gene Symbol: ZNF462
ZNF462 		zinc finger protein 462 0.711 0.462 1.00
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease 0.400 strong 1.000 1 0 2003 2003
Entrez Id: 58499
Gene Symbol: ZNF462
ZNF462 		zinc finger protein 462 0.711 0.462 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.320 strong 1.000 1 0 2003 2017
Entrez Id: 58499
Gene Symbol: ZNF462
ZNF462 		zinc finger protein 462 0.711 0.462 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.310 strong 1.000 1 0 2003 2018
Entrez Id: 58499
Gene Symbol: ZNF462
ZNF462 		zinc finger protein 462 0.711 0.462 1.00
CUI: C0033377
Disease: Ptosis
Ptosis 		disease 0.300 strong 1.000 1 0 2003 2003
Entrez Id: 58499
Gene Symbol: ZNF462
ZNF462 		zinc finger protein 462 0.711 0.462 1.00
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		disease 0.300 strong 1.000 1 0 2003 2003
Entrez Id: 58499
Gene Symbol: ZNF462
ZNF462 		zinc finger protein 462 0.711 0.462 1.00
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge 		phenotype 0.300 strong 1.000 1 0 2003 2003