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: 157680
Gene Symbol: VPS13B
VPS13B
vacuolar protein sorting 13 homolog B 0.579 0.769 2.5E-45
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 1 2020 2020
Entrez Id: 29072
Gene Symbol: SETD2
SETD2
SET domain containing 2, histone lysine methyltransferase 0.424 0.846 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 0 2020 2020
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 3 2019 2019
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
RAD21 cohesin complex component 0.528 0.846 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
solute carrier family 35 member A2 0.525 0.808 0.72
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 1 1 2019 2019
Entrez Id: 7701
Gene Symbol: ZNF142
ZNF142
zinc finger protein 142 0.861 0.192 4.8E-16
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 1 3 2019 2019
Entrez Id: 84294
Gene Symbol: UTP23
UTP23
UTP23 small subunit processome component 0.711 0.385 8.6E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L
dynamin 1 like 0.475 0.808 5.7E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 1107
Gene Symbol: CHD3
CHD3
chromodomain helicase DNA binding protein 3 0.670 0.577 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 0 0 2019 2019
Entrez Id: 132
Gene Symbol: ADK
ADK
adenosine kinase 0.584 0.769 3.1E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 1457
Gene Symbol: CSNK2A1
CSNK2A1
casein kinase 2 alpha 1 0.597 0.731 0.99
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 23019
Gene Symbol: CNOT1
CNOT1
CCR4-NOT transcription complex subunit 1 0.674 0.577 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 0 0 2019 2019
Entrez Id: 23135
Gene Symbol: KDM6B
KDM6B
lysine demethylase 6B 0.514 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 23512
Gene Symbol: SUZ12
SUZ12
SUZ12 polycomb repressive complex 2 subunit 0.529 0.577 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 None 1.000 0 0 2019 2019
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 2615
Gene Symbol: LRRC32
LRRC32
leucine rich repeat containing 32 0.619 0.577 1.1E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 1 2019 2019
Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3
F-box and leucine rich repeat protein 3 0.736 0.462 0.98
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 2744
Gene Symbol: GLS
GLS
glutaminase 0.489 0.808 0.96
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
glutamate ionotropic receptor NMDA type subunit 1 0.561 0.692 0.98
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 1 2019 2019
Entrez Id: 4099
Gene Symbol: MAG
MAG
myelin associated glycoprotein 0.579 0.692 0.49
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 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 0 0 2019 2019
Entrez Id: 51574
Gene Symbol: LARP7
LARP7
La ribonucleoprotein 7, transcriptional regulator 0.674 0.615 9.3E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 51733
Gene Symbol: UPB1
UPB1
beta-ureidopropionase 1 0.722 0.346 7.4E-12
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
BCL6 corepressor 0.471 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 0 2019 2019