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: 1063
Gene Symbol: CENPF
CENPF 		centromere protein F 0.601 0.654 1.9E-36
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.410 strong 1.000 1 0 2015 2015
Entrez Id: 3376
Gene Symbol: IARS1
IARS1 		isoleucyl-tRNA synthetase 1 0.606 0.692 1.7E-21
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.400 strong 1.000 1 0 2016 2016
Entrez Id: 3981
Gene Symbol: LIG4
LIG4 		DNA ligase 4 0.478 0.846 4.2E-06
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.470 strong 1.000 1 0 2001 2016
Entrez Id: 10293
Gene Symbol: TRAIP
TRAIP 		TRAF interacting protein 0.644 0.654 1.6E-05
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.610 strong 1.000 1 0 2016 2016
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.500 strong 1.000 1 0 1999 2019
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6 		solute carrier family 9 member A6 0.516 0.846 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.440 strong 1.000 0 0 2011 2020
Entrez Id: 1781
Gene Symbol: DYNC1I2
DYNC1I2 		dynein cytoplasmic 1 intermediate chain 2 0.760 0.385 1.1E-08
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.400 moderate 1.000 1 0 2019 2019
Entrez Id: 23036
Gene Symbol: ZNF292
ZNF292 		zinc finger protein 292 0.695 0.423 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.300 moderate 1.000 1 0 2018 2018
Entrez Id: 29081
Gene Symbol: METTL5
METTL5 		methyltransferase like 5 1.000 0.115 5.2E-05
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.310 moderate 1.000 1 0 2019 2019
Entrez Id: 55704
Gene Symbol: CCDC88A
CCDC88A 		coiled-coil domain containing 88A 0.610 0.615 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.300 moderate 1.000 1 0 2019 2019
Entrez Id: 4047
Gene Symbol: LSS
LSS 		lanosterol synthase 0.606 0.654 1.8E-07
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.300 moderate 1.000 1 0 2017 2017
Entrez Id: 23397
Gene Symbol: NCAPH
NCAPH 		non-SMC condensin I complex subunit H 0.760 0.385 8.0E-05
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.400 limited 1.000 1 0 2016 2016
Entrez Id: 9928
Gene Symbol: KIF14
KIF14 		kinesin family member 14 0.578 0.654 4.1E-05
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.420 limited 1.000 1 0 2014 2019