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: 55835
Gene Symbol: CENPJ
CENPJ 		centromere protein J 0.546 0.846 2.1E-27
CUI: C1842109
Disease: Microcephaly, Primary Autosomal Recessive, 6
Microcephaly, Primary Autosomal Recessive, 6 		disease 0.710 strong 1.000 2 0 2005 2011
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ 		centromere protein J 0.546 0.846 2.1E-27
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		disease 0.710 None 1.000 1 0 2010 2010
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ 		centromere protein J 0.546 0.846 2.1E-27
CUI: C3888212
Disease: SECKEL SYNDROME 4
SECKEL SYNDROME 4 		disease 0.600 None 1.000 2 0 2006 2010
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ 		centromere protein J 0.546 0.846 2.1E-27
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.420 strong 1.000 1 0 2005 2010
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ 		centromere protein J 0.546 0.846 2.1E-27
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		disease 0.310 strong 1.000 1 0 2006 2011