Source: CLINVAR

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: 1911
Gene Symbol: PHC1
PHC1 		polyhomeotic homolog 1 0.644 0.692 1.00
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		disease 0.410 None 1.000 0 1 2013 2014
Entrez Id: 11284
Gene Symbol: PNKP
PNKP 		polynucleotide kinase 3'-phosphatase 0.553 0.692 3.7E-14
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		disease 0.110 None 1.000 0 1 2013 2013
Entrez Id: 100506658
Gene Symbol: OCLN
OCLN 		occludin 0.507 0.846 8.6E-07
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		disease 0.100 None 0 1
Entrez Id: 112714
Gene Symbol: TUBA3E
TUBA3E 		tubulin alpha 3e 0.861 0.115 2.0E-08
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		disease 0.100 None 0 1
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15 		tRNA splicing endonuclease subunit 15 0.769 0.115 0.28
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		disease 0.100 None 0 1
Entrez Id: 54617
Gene Symbol: INO80
INO80 		INO80 complex ATPase subunit 0.751 0.385 1.00
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		disease 0.100 None 0 2