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: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
succinate dehydrogenase complex subunit D 0.472 0.885 0.34
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
succinate dehydrogenase complex iron sulfur subunit B 0.474 0.846 2.4E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
succinate dehydrogenase complex flavoprotein subunit A 0.517 0.731 2.6E-10
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
sodium voltage-gated channel alpha subunit 9 0.543 0.615 4.8E-19
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
sodium voltage-gated channel alpha subunit 3 0.617 0.538 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
sodium voltage-gated channel beta subunit 1 0.575 0.538 0.10
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 6224
Gene Symbol: RPS20
RPS20
ribosomal protein S20 0.610 0.692 2.1E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 55670
Gene Symbol: PEX26
PEX26
peroxisomal biogenesis factor 26 0.584 0.615 0.93
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 55331
Gene Symbol: ACER3
ACER3
alkaline ceramidase 3 0.743 0.423 0.87
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
adenosine deaminase 2 0.545 0.846 8.1E-08
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 51752
Gene Symbol: ERAP1
ERAP1
endoplasmic reticulum aminopeptidase 1 0.556 0.692 2.1E-26
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 51741
Gene Symbol: WWOX
WWOX
WW domain containing oxidoreductase 0.453 0.808 1.2E-15
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 51693
Gene Symbol: TRAPPC2L
TRAPPC2L
trafficking protein particle complex 2 like 0.805 0.269 3.7E-11
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 51604
Gene Symbol: PIGT
PIGT
phosphatidylinositol glycan anchor biosynthesis class T 0.633 0.615 7.3E-10
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
actin like 6B 0.656 0.462 2.8E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2
membrane bound transcription factor peptidase, site 2 0.513 0.769 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 51227
Gene Symbol: PIGP
PIGP
phosphatidylinositol glycan anchor biosynthesis class P 0.633 0.462 1.9E-03
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 51218
Gene Symbol: GLRX5
GLRX5
glutaredoxin 5 0.659 0.538 0.75
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 51112
Gene Symbol: TRAPPC12
TRAPPC12
trafficking protein particle complex 12 0.751 0.385 5.4E-16
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 51
Gene Symbol: ACOX1
ACOX1
acyl-CoA oxidase 1 0.610 0.731 6.2E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0