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: 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: 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: 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: 1968
Gene Symbol: EIF2S3
EIF2S3 		eukaryotic translation initiation factor 2 subunit gamma 0.604 0.731 0.96
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.430 strong 1.000 1 0 2012 2019
Entrez Id: 23476
Gene Symbol: BRD4
BRD4 		bromodomain containing 4 0.446 0.885 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 23761
Gene Symbol: PISD
PISD 		phosphatidylserine decarboxylase 0.821 0.308 0.22
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.300 None 1.000 1 0 2019 2019
Entrez Id: 2806
Gene Symbol: GOT2
GOT2 		glutamic-oxaloacetic transaminase 2 0.529 0.731 1.4E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.300 None 1.000 1 0 2019 2019
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: 51075
Gene Symbol: TMX2
TMX2 		thioredoxin related transmembrane protein 2 0.821 0.231 0.65
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.410 strong 1.000 1 0 2018 2019
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
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2 		ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.300 None 1.000 1 0 2020 2020
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