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: 7343
Gene Symbol: UBTF
UBTF
upstream binding transcription factor 0.705 0.462 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.400 limited 1.000 0 0 2017 2017
Entrez Id: 54936
Gene Symbol: ADPRS
ADPRS
ADP-ribosylserine hydrolase 0.743 0.308 5.8E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.400 moderate 1.000 0 0 2018 2018
Entrez Id: 8869
Gene Symbol: ST3GAL5
ST3GAL5
ST3 beta-galactoside alpha-2,3-sialyltransferase 5 0.650 0.654 1.3E-03
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.400 limited 1.000 0 0 2015 2015
Entrez Id: 774
Gene Symbol: CACNA1B
CACNA1B
calcium voltage-gated channel subunit alpha1 B 0.650 0.577 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.400 strong 1.000 0 0 2015 2019
Entrez Id: 8021
Gene Symbol: NUP214
NUP214
nucleoporin 214 0.638 0.385 5.5E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.400 None 1.000 0 0 2019 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.130 None 1.000 0 0 2007 2018
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.120 None 1.000 0 0 2008 2018
Entrez Id: 388962
Gene Symbol: BOLA3
BOLA3
bolA family member 3 0.760 0.231 0.15
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 410
Gene Symbol: ARSA
ARSA
arylsulfatase A 0.448 0.923 1.1E-11
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 23334
Gene Symbol: SZT2
SZT2
SZT2 subunit of KICSTOR complex 0.670 0.423 2.3E-14
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1
folate receptor alpha 0.522 0.885 0.13
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 57531
Gene Symbol: HACE1
HACE1
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 0.601 0.692 6.1E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
potassium sodium-activated channel subfamily T member 1 0.610 0.308 2.8E-05
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19
peroxisomal biogenesis factor 19 0.585 0.731 3.2E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
protocadherin 19 0.599 0.462 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
solute carrier family 12 member 5 0.570 0.654 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
decaprenyl diphosphate synthase subunit 2 0.626 0.577 4.4E-08
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
coenzyme Q8A 0.674 0.385 9.3E-11
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 5660
Gene Symbol: PSAP
PSAP
prosaposin 0.532 0.846 0.99
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 55788
Gene Symbol: LMBRD1
LMBRD1
LMBR1 domain containing 1 0.716 0.385 9.0E-11
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.582 0.654 2.6E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0