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: 81609
Gene Symbol: SNX27
SNX27
sorting nexin 27 0.722 0.346 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.310 None 1.000 1 0 2013 2020
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: 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: 7360
Gene Symbol: UGP2
UGP2
UDP-glucose pyrophosphorylase 2 0.711 0.308 1.4E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 None 1.000 1 0 2020 2020
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: 54681
Gene Symbol: P4HTM
P4HTM
prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 2 0 2014 2019
Entrez Id: 774
Gene Symbol: CACNA1B
CACNA1B
calcium voltage-gated channel subunit alpha1 B 0.650 0.577 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 2 0 2015 2019
Entrez Id: 5833
Gene Symbol: PCYT2
PCYT2
phosphate cytidylyltransferase 2, ethanolamine 0.821 0.192 8.6E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.310 strong 1.000 2 0 2012 2019
Entrez Id: 80036
Gene Symbol: TRPM3
TRPM3
transient receptor potential cation channel subfamily M member 3 0.663 0.769 5.7E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 moderate 1.000 2 0 2017 2019
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1
zinc finger MIZ-type containing 1 0.588 0.615 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.410 None 1.000 2 0 2015 2019
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: 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: 6602
Gene Symbol: SMARCD1
SMARCD1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 0.695 0.385 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.310 strong 1.000 1 0 2019 2019
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: 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: 51780
Gene Symbol: KDM3B
KDM3B
lysine demethylase 3B 0.686 0.500 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.310 moderate 1.000 1 0 2019 2019
Entrez Id: 5430
Gene Symbol: POLR2A
POLR2A
RNA polymerase II subunit A 0.650 0.423 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.310 strong < 0.001 1 0 2019 2019
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
G protein subunit beta 1 0.617 0.731 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.420 strong 1.000 1 0 2016 2019
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: 51412
Gene Symbol: ACTL6B
ACTL6B
actin like 6B 0.656 0.462 2.8E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.410 strong 1.000 1 0 2019 2019
Entrez Id: 51227
Gene Symbol: PIGP
PIGP
phosphatidylinositol glycan anchor biosynthesis class P 0.633 0.462 1.9E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 moderate 1.000 1 0 2019 2019
Entrez Id: 28514
Gene Symbol: DLL1
DLL1
delta like canonical Notch ligand 1 0.492 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.310 None 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: 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: 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