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: 3746
Gene Symbol: KCNC1
KCNC1
potassium voltage-gated channel subfamily C member 1 0.711 0.154 0.99
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: 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: 2639
Gene Symbol: GCDH
GCDH
glutaryl-CoA dehydrogenase 0.691 0.385 4.9E-03
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 1
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 2 2018 2018
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: 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: 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 1 2017 2017
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
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: 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: 2581
Gene Symbol: GALC
GALC
galactosylceramidase 0.604 0.615 5.2E-15
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 2
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
spermatogenesis associated 5 0.670 0.654 9.1E-20
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 1
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
enoyl-CoA hydratase, short chain 1 0.601 0.654 8.8E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 2
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: 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: 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: 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: 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: 215
Gene Symbol: ABCD1
ABCD1
ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 1
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
EBF transcription factor 3 0.595 0.731 1.00
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