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: 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: 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: 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: 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: 84628
Gene Symbol: NTNG2
NTNG2 		netrin G2 0.700 0.423 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.300 strong 1.000 1 0 2019 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: 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: 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: 10735
Gene Symbol: STAG2
STAG2 		stromal antigen 2 0.568 0.731 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.400 strong 1.000 1 0 2015 2015
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: 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: 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: 7468
Gene Symbol: NSD2
NSD2 		nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.410 strong 1.000 1 0 2018 2018