Source: CLINVAR

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: 5654
Gene Symbol: HTRA1
HTRA1
HtrA serine peptidase 1 0.532 0.692 4.9E-04
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease 0.410 strong 1.000 0 1 2014 2015
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B 0.510 0.692 1.00
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease 0.190 None 1.000 0 1 2015 2020
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease 0.140 None 1.000 0 1 2017 2019
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease 0.120 None 1.000 0 1 2013 2014
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease 0.120 None 1.000 0 1 2018 2019
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease 0.110 None 1.000 0 2 2018 2018
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease 0.110 None 1.000 0 1 2016 2016
Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1
potassium calcium-activated channel subfamily M alpha 1 0.518 0.846 1.00
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease 0.110 None 1.000 0 1 2018 2018
Entrez Id: 3035
Gene Symbol: HARS1
HARS1
histidyl-tRNA synthetase 1 0.569 0.808 2.4E-06
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease 0.110 None 1.000 0 1 2019 2019
Entrez Id: 2259
Gene Symbol: FGF14
FGF14
fibroblast growth factor 14 0.619 0.692 0.91
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease 0.110 None 1.000 0 1 2009 2009
Entrez Id: 54082
Gene Symbol: TSPEAR-AS1
TSPEAR-AS1
TSPEAR antisense RNA 1 0.821 0.269
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 54084
Gene Symbol: TSPEAR
TSPEAR
thrombospondin type laminin G domain and EAR repeats 0.736 0.385 2.4E-17
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
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: C0338656
Disease: Impaired cognition
Impaired cognition
disease 0.100 None 0 1
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease 0.100 None 0 1
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
signal transducer and activator of transcription 1 0.399 0.885 1.00
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease 0.100 None 0 1
Entrez Id: 54499
Gene Symbol: TMCO1
TMCO1
transmembrane and coiled-coil domains 1 0.588 0.654 9.4E-10
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease 0.100 None 0 1
Entrez Id: 100533467
Gene Symbol: BIVM-ERCC5
BIVM-ERCC5
BIVM-ERCC5 readthrough 0.736 0.308 1.3E-15
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease 0.100 None 0 1
Entrez Id: 2895
Gene Symbol: GRID2
GRID2
glutamate ionotropic receptor delta type subunit 2 0.670 0.500 1.00
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
GNAS complex locus 0.420 0.885 0.68
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease 0.100 None 0 1
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
ERCC excision repair 5, endonuclease 0.499 0.731 2.7E-13
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease 0.100 None 0 1
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease 0.100 None 0 1
Entrez Id: 134218
Gene Symbol: DNAJC21
DNAJC21
DnaJ heat shock protein family (Hsp40) member C21 0.606 0.731 2.1E-07
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease 0.100 None 0 1
Entrez Id: 101929328
Gene Symbol: KCNMA1-AS1
KCNMA1-AS1
KCNMA1 antisense RNA 1 0.705 0.654
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease 0.100 None 0 1