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: 23334
Gene Symbol: SZT2
SZT2 		SZT2 subunit of KICSTOR complex 0.670 0.423 2.3E-14
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.320 limited 1.000 1 0 2013 2019
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: 11154
Gene Symbol: AP4S1
AP4S1 		adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 None 1.000 1 0 2015 2015
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6 		solute carrier family 5 member 6 0.674 0.577 6.1E-03
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 None 1.000 1 0 2017 2017
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A 		actin like 6A 0.678 0.346 1.00
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 7343
Gene Symbol: UBTF
UBTF 		upstream binding transcription factor 0.705 0.462 1.00
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 limited 1.000 1 0 2017 2017
Entrez Id: 63925
Gene Symbol: ZNF335
ZNF335 		zinc finger protein 335 0.711 0.462 6.9E-07
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 limited 1.000 1 0 2012 2012
Entrez Id: 91801
Gene Symbol: ALKBH8
ALKBH8 		alkB homolog 8, tRNA methyltransferase 0.716 0.423 2.0E-04
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 moderate 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: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 strong 1.000 1 0 2017 2017
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: 57551
Gene Symbol: TAOK1
TAOK1 		TAO kinase 1 0.792 0.269 1.00
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 strong 1.000 1 0 2019 2019
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