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: 128637
Gene Symbol: TBC1D20
TBC1D20 		TBC1 domain family member 20 0.621 0.500 0.93
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 strong 1.000 1 0 2015 2015
Entrez Id: 1644
Gene Symbol: DDC
DDC 		dopa decarboxylase 0.535 0.769 3.8E-08
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 None 1.000 1 0 2009 2009
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1 		diaphanous related formin 1 0.623 0.654 0.92
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 moderate 1.000 1 0 2016 2016
Entrez Id: 201595
Gene Symbol: STT3B
STT3B 		STT3 oligosaccharyltransferase complex catalytic subunit B 0.760 0.385 1.00
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 limited 1.000 1 0 2013 2013
Entrez Id: 23111
Gene Symbol: SPART
SPART 		spartin 0.588 0.654 3.0E-07
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 moderate 1.000 1 0 2017 2017
Entrez Id: 26007
Gene Symbol: TKFC
TKFC 		triokinase and FMN cyclase 0.839 0.192 3.2E-12
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 3703
Gene Symbol: STT3A
STT3A 		STT3 oligosaccharyltransferase complex catalytic subunit A 0.670 0.577 2.0E-03
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 limited 1.000 1 0 2013 2013
Entrez Id: 51112
Gene Symbol: TRAPPC12
TRAPPC12 		trafficking protein particle complex 12 0.751 0.385 5.4E-16
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 54802
Gene Symbol: TRIT1
TRIT1 		tRNA isopentenyltransferase 1 0.621 0.692 4.1E-11
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 strong 1.000 1 0 2014 2014
Entrez Id: 55275
Gene Symbol: VPS53
VPS53 		VPS53 subunit of GARP complex 0.659 0.654 1.4E-07
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 strong 1.000 1 0 1989 1989
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2 		calcium voltage-gated channel auxiliary subunit alpha2delta 2 0.626 0.615 1.00
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 strong 1.000 1 0 2004 2004