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: 8884
Gene Symbol: SLC5A6
SLC5A6
solute carrier family 5 member 6 0.674 0.577 6.1E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 None 1.000 2 0 2017 2018
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: 5455
Gene Symbol: POU3F3
POU3F3
POU class 3 homeobox 3 0.682 0.615 0.88
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 strong 1.000 1 0 2014 2014
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: 51112
Gene Symbol: TRAPPC12
TRAPPC12
trafficking protein particle complex 12 0.751 0.385 5.4E-16
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 strong 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: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 4905
Gene Symbol: NSF
NSF
N-ethylmaleimide sensitive factor, vesicle fusing ATPase 0.659 0.577 1.8E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 limited 1.000 1 0 2019 2019
Entrez Id: 4781
Gene Symbol: NFIB
NFIB
nuclear factor I B 0.573 0.654 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 moderate 1.000 1 0 2018 2018
Entrez Id: 4081
Gene Symbol: MAB21L1
MAB21L1
mab-21 like 1 0.736 0.192 0.29
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 4047
Gene Symbol: LSS
LSS
lanosterol synthase 0.606 0.654 1.8E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 moderate 1.000 1 0 2017 2017
Entrez Id: 318
Gene Symbol: NUDT2
NUDT2
nudix hydrolase 2 0.780 0.154 5.7E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 moderate 1.000 1 0 2018 2018
Entrez Id: 3098
Gene Symbol: HK1
HK1
hexokinase 1 0.542 0.731 0.91
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 2806
Gene Symbol: GOT2
GOT2
glutamic-oxaloacetic transaminase 2 0.529 0.731 1.4E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 None 1.000 1 0 2019 2019
Entrez Id: 26960
Gene Symbol: NBEA
NBEA
neurobeachin 0.760 0.538 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 strong 1.000 1 0 2013 2013
Entrez Id: 26173
Gene Symbol: INTS1
INTS1
integrator complex subunit 1 0.666 0.500 7.1E-11
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 strong 1.000 1 0 2007 2007
Entrez Id: 26007
Gene Symbol: TKFC
TKFC
triokinase and FMN cyclase 0.839 0.192 3.2E-12
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 None 1.000 1 0 2020 2020
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: 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: 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: 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: 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: 86
Gene Symbol: ACTL6A
ACTL6A
actin like 6A 0.678 0.346 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 84148
Gene Symbol: KAT8
KAT8
lysine acetyltransferase 8 0.592 0.654 0.22
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 79576
Gene Symbol: NKAP
NKAP
NFKB activating protein 0.760 0.269 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 strong 1.000 1 0 2019 2019