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: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.330 strong 1.000 1 0 2000 2019
Entrez Id: 2555
Gene Symbol: GABRA2
GABRA2 		gamma-aminobutyric acid type A receptor subunit alpha2 0.641 0.346 1.00
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.310 strong 1.000 1 0 1978 2018
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: 23028
Gene Symbol: KDM1A
KDM1A 		lysine demethylase 1A 0.512 0.808 1.00
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.310 strong 1.000 1 0 2016 2016
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: 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: 2782
Gene Symbol: GNB1
GNB1 		G protein subunit beta 1 0.617 0.731 1.00
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.310 strong 1.000 1 0 2017 2019
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
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C 		lysine demethylase 5C 0.581 0.538 1.00
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.310 None 1.000 2 0 2008 2016
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.320 strong 1.000 1 0 2007 2017
Entrez Id: 6942
Gene Symbol: TCF20
TCF20 		transcription factor 20 0.644 0.423 1.00
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.310 strong 1.000 1 0 2016 2019
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