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: 10464
Gene Symbol: PIBF1
PIBF1
progesterone immunomodulatory binding factor 1 0.670 0.462 1.9E-11
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
phenotype 0.300 limited 1.000 1 0 2015 2015
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: 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: 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: 6712
Gene Symbol: SPTBN2
SPTBN2
spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
phenotype 0.300 moderate 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: 8560
Gene Symbol: DEGS1
DEGS1
delta 4-desaturase, sphingolipid 1 0.621 0.731 0.14
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
phenotype 0.300 strong 1.000 1 0 2019 2019
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: 87178
Gene Symbol: PNPT1
PNPT1
polyribonucleotide nucleotidyltransferase 1 0.653 0.462 4.0E-04
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
phenotype 0.300 moderate 1.000 1 0 2019 2019
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 2741
Gene Symbol: GLRA1
GLRA1
glycine receptor alpha 1 0.628 0.500 1.6E-04
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
phenotype 0.310 moderate 1.000 2 0 1992 2017