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: 3073
Gene Symbol: HEXA
HEXA
hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 1.000 5 15 1992 2014
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 1.000 2 2 2017 2017
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
tubulin beta 4A class IVa 0.608 0.615 0.11
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 1.000 1 1 2014 2014
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
transport and golgi organization 2 homolog 0.666 0.615 1.5E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
G protein subunit beta 1 0.617 0.731 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 1.000 1 2 2016 2016
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 1
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 2
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 1
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
protein phosphatase 3 catalytic subunit alpha 0.568 0.769 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 1
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
CLN6 transmembrane ER protein 0.670 0.231 1.0E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 1
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
interferon regulatory factor 2 binding protein like 0.631 0.462 0.84
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 3
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
N-sulfoglucosamine sulfohydrolase 0.638 0.692 1.0E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 3
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
nicotinamide nucleotide adenylyltransferase 1 0.656 0.269 3.5E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 1
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 1
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
cyclin dependent kinase like 5 0.522 0.692 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 1
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
fatty acid 2-hydroxylase 0.573 0.654 0.15
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 1
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 4
Entrez Id: 80155
Gene Symbol: NAA15
NAA15
N-alpha-acetyltransferase 15, NatA auxiliary subunit 0.700 0.423 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 1
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
phospholipase A2 group VI 0.476 0.846 2.5E-10
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 2
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 1
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
N-acetyl-alpha-glucosaminidase 0.546 0.769 1.4E-08
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 2
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
eukaryotic translation initiation factor 2B subunit epsilon 0.615 0.769 6.4E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 1
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 6
Entrez Id: 137682
Gene Symbol: NDUFAF6
NDUFAF6
NADH:ubiquinone oxidoreductase complex assembly factor 6 0.659 0.615 9.1E-08
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 1
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
aspartyl-tRNA synthetase 1 0.711 0.500 8.5E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 1