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: 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: 833
Gene Symbol: CARS1
CARS1 		cysteinyl-tRNA synthetase 1 0.722 0.538 4.0E-04
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.300 strong 1.000 1 0 2019 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: 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: 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: 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: 8295
Gene Symbol: TRRAP
TRRAP 		transformation/transcription domain associated protein 0.572 0.692 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.400 None 1.000 2 0 2017 2018
Entrez Id: 392636
Gene Symbol: AGMO
AGMO 		alkylglycerol monooxygenase 0.780 0.423 6.8E-26
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.310 None 1.000 2 0 2016 2019
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1 		zinc finger MIZ-type containing 1 0.588 0.615 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.300 None 1.000 2 0 2015 2016
Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12 		protocadherin 12 0.722 0.346 2.9E-13
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.310 None 1.000 4 0 2008 2019