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: 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: 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: 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: 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: 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: 51569
Gene Symbol: UFM1
UFM1 		ubiquitin fold modifier 1 0.722 0.385 0.16
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.420 strong 1.000 1 0 2016 2018
Entrez Id: 8021
Gene Symbol: NUP214
NUP214 		nucleoporin 214 0.638 0.385 5.5E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.410 None 1.000 1 0 2019 2019
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
Entrez Id: 83480
Gene Symbol: PUS3
PUS3 		pseudouridine synthase 3 0.780 0.346 1.4E-08
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.400 strong 1.000 1 0 2016 2016
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: 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: 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: 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