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: 55755
Gene Symbol: CDK5RAP2
CDK5RAP2 		CDK5 regulatory subunit associated protein 2 0.682 0.577 4.6E-23
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		disease 0.690 None 0.889 0 0 2007 2017
Entrez Id: 55755
Gene Symbol: CDK5RAP2
CDK5RAP2 		CDK5 regulatory subunit associated protein 2 0.682 0.577 4.6E-23
CUI: C1858108
Disease: Microcephaly, Primary Autosomal Recessive, 3
Microcephaly, Primary Autosomal Recessive, 3 		disease 0.600 strong 1.000 0 0 2005 2017
Entrez Id: 55755
Gene Symbol: CDK5RAP2
CDK5RAP2 		CDK5 regulatory subunit associated protein 2 0.682 0.577 4.6E-23
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		disease 0.370 strong 1.000 0 0 2012 2018