Source: HPO

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: 4137
Gene Symbol: MAPT
MAPT
microtubule associated protein tau 0.446 0.923 6.0E-03
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.200 None 1.000 0 0 1995 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN
granulin precursor 0.435 0.846 7.0E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.180 None 1.000 0 0 2009 2018
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
spectrin alpha, non-erythrocytic 1 0.601 0.615 1.00
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.140 None 1.000 0 0 2012 2017
Entrez Id: 3064
Gene Symbol: HTT
HTT
huntingtin 0.548 0.654 1.00
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.130 None 1.000 0 0 1997 2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
presenilin 1 0.469 0.846 0.97
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.130 None 1.000 0 0 2012 2016
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 0.656 0.423 1.6E-08
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.120 None 1.000 0 0 2011 2012
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
C9orf72-SMCR8 complex subunit 0.496 0.769 1.1E-06
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.120 None 1.000 0 0 2012 2012
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
transmembrane protein 106B 0.590 0.462 0.33
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.120 None 0.500 0 0 2016 2017
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
arginyl-tRNA synthetase 2, mitochondrial 0.663 0.462 7.7E-14
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.120 None 1.000 0 0 2011 2013
Entrez Id: 81570
Gene Symbol: CLPB
CLPB
caseinolytic mitochondrial matrix peptidase chaperone subunit B 0.631 0.654 5.0E-04
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L
dynamin 1 like 0.475 0.808 5.7E-04
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 2895
Gene Symbol: GRID2
GRID2
glutamate ionotropic receptor delta type subunit 2 0.670 0.500 1.00
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CLN3 lysosomal/endosomal transmembrane protein, battenin 0.572 0.692 1.3E-07
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.110 None 1.000 0 0 1999 1999
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
phospholipase A2 group VI 0.476 0.846 2.5E-10
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 25978
Gene Symbol: CHMP2B
CHMP2B
charged multivesicular body protein 2B 0.543 0.731 4.6E-06
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.110 None 1.000 0 0 2009 2009
Entrez Id: 5521
Gene Symbol: PPP2R2B
PPP2R2B
protein phosphatase 2 regulatory subunit Bbeta 0.601 0.577 0.98
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.110 None 1.000 0 0 2001 2001
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
WD repeat domain 45 0.647 0.423 0.99
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
SET binding protein 1 0.503 0.808 1.00
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 5095
Gene Symbol: PCCA
PCCA
propionyl-CoA carboxylase subunit alpha 0.682 0.538 3.1E-15
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 80055
Gene Symbol: PGAP1
PGAP1
post-GPI attachment to proteins inositol deacylase 1 0.650 0.423 3.2E-08
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 5105
Gene Symbol: PCK1
PCK1
phosphoenolpyruvate carboxykinase 1 0.608 0.538 8.7E-15
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.110 None 1.000 0 0 2010 2010
Entrez Id: 57520
Gene Symbol: HECW2
HECW2
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 0.705 0.423 1.00
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 57102
Gene Symbol: C12orf4
C12orf4
chromosome 12 open reading frame 4 0.691 0.308 1.1E-05
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0