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: 79648
Gene Symbol: MCPH1
MCPH1 		microcephalin 1 0.540 0.846 7.8E-30
CUI: C1855081
Disease: MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 		disease 0.760 strong 1.000 1 0 2002 2014
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		microcephalin 1 0.540 0.846 7.8E-30
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		disease 0.400 strong 1.000 0 0 2002 2018