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: 57082
Gene Symbol: KNL1
KNL1 		kinetochore scaffold 1 0.644 0.615 0.78
CUI: C1858516
Disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE 		disease 0.700 None 1.000 2 0 2012 2016
Entrez Id: 57082
Gene Symbol: KNL1
KNL1 		kinetochore scaffold 1 0.644 0.615 0.78
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		disease 0.320 strong 1.000 1 0 2012 2019