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: 5515
Gene Symbol: PPP2CA
PPP2CA
protein phosphatase 2 catalytic subunit alpha 0.608 0.769 0.99
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.410 strong 1.000 1 0 2019 2019
Entrez Id: 55163
Gene Symbol: PNPO
PNPO
pyridoxamine 5'-phosphate oxidase 0.659 0.500 1.1E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 moderate 1.000 1 0 2005 2005
Entrez Id: 55275
Gene Symbol: VPS53
VPS53
VPS53 subunit of GARP complex 0.659 0.654 1.4E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 1 0 1989 1989
Entrez Id: 55621
Gene Symbol: TRMT1
TRMT1
tRNA methyltransferase 1 0.821 0.269 1.9E-12
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 1 0 2017 2017
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E
lysine methyltransferase 2E 0.682 0.423 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.410 strong 1.000 1 0 2019 2019
Entrez Id: 57003
Gene Symbol: CCDC47
CCDC47
coiled-coil domain containing 47 0.678 0.462 6.1E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 57479
Gene Symbol: PRR12
PRR12
proline rich 12 0.716 0.385 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 57551
Gene Symbol: TAOK1
TAOK1
TAO kinase 1 0.792 0.269 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 57700
Gene Symbol: FAM160B1
FAM160B1
family with sequence similarity 160 member B1 0.861 0.192 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 limited 1.000 1 0 2019 2019
Entrez Id: 58499
Gene Symbol: ZNF462
ZNF462
zinc finger protein 462 0.711 0.462 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.320 strong 1.000 1 0 2003 2017
Entrez Id: 6872
Gene Symbol: TAF1
TAF1
TATA-box binding protein associated factor 1 0.581 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 limited 1.000 1 0 2015 2015
Entrez Id: 6942
Gene Symbol: TCF20
TCF20
transcription factor 20 0.644 0.423 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.410 strong 1.000 1 0 2016 2019
Entrez Id: 7343
Gene Symbol: UBTF
UBTF
upstream binding transcription factor 0.705 0.462 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 limited 1.000 1 0 2017 2018
Entrez Id: 8604
Gene Symbol: SLC25A12
SLC25A12
solute carrier family 25 member 12 0.711 0.462 0.22
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 1 0 2016 2016
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
polyribonucleotide nucleotidyltransferase 1 0.653 0.462 4.0E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 moderate 1.000 1 0 2019 2019
Entrez Id: 8733
Gene Symbol: GPAA1
GPAA1
glycosylphosphatidylinositol anchor attachment 1 0.647 0.538 5.5E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 1 0 2014 2014
Entrez Id: 8766
Gene Symbol: RAB11A
RAB11A
RAB11A, member RAS oncogene family 0.601 0.692 0.99
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 moderate 1.000 1 0 2017 2017
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2
BR serine/threonine kinase 2 0.700 0.500 0.95
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 1 0 2017 2019
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
phosphatidylinositol glycan anchor biosynthesis class Q 0.610 0.577 1.4E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 1 0 2019 2019
Entrez Id: 91801
Gene Symbol: ALKBH8
ALKBH8
alkB homolog 8, tRNA methyltransferase 0.716 0.423 2.0E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 None 1.000 1 0 2019 2019
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2
calcium voltage-gated channel auxiliary subunit alpha2delta 2 0.626 0.615 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 1 0 2004 2004
Entrez Id: 9330
Gene Symbol: GTF3C3
GTF3C3
general transcription factor IIIC subunit 3 1.000 7.0E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 moderate 1.000 1 0 2019 2019
Entrez Id: 9488
Gene Symbol: PIGB
PIGB
phosphatidylinositol glycan anchor biosynthesis class B 0.839 0.038 3.9E-11
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 9698
Gene Symbol: PUM1
PUM1
pumilio RNA binding family member 1 0.653 0.654 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 9758
Gene Symbol: FRMPD4
FRMPD4
FERM and PDZ domain containing 4 0.674 0.423 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 1 0 2018 2018