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: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 57531
Gene Symbol: HACE1
HACE1
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 0.601 0.692 6.1E-06
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
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: 57511
Gene Symbol: COG6
COG6
component of oligomeric golgi complex 6 0.644 0.577 6.4E-16
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
kinase D interacting substrate 220 0.534 0.769 7.4E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
solute carrier family 12 member 5 0.570 0.654 1.00
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 57165
Gene Symbol: GJC2
GJC2
gap junction protein gamma 2 0.593 0.692 1.0E-02
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
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: 57017
Gene Symbol: COQ9
COQ9
coenzyme Q9 0.700 0.423 5.5E-06
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 57003
Gene Symbol: CCDC47
CCDC47
coiled-coil domain containing 47 0.678 0.462 6.1E-08
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 56776
Gene Symbol: FMN2
FMN2
formin 2 0.610 0.538 1.00
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
twinkle mtDNA helicase 0.516 0.692 3.2E-03
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
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: 5611
Gene Symbol: DNAJC3
DNAJC3
DnaJ heat shock protein family (Hsp40) member C3 0.670 0.577 1.7E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase 0.610 0.808 3.6E-19
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 56006
Gene Symbol: SMG9
SMG9
SMG9 nonsense mediated mRNA decay factor 0.729 0.346 3.5E-13
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5
tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
glucosylceramidase beta 2 0.636 0.654 2.0E-20
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19
peroxisomal biogenesis factor 19 0.585 0.731 3.2E-04
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 6509
Gene Symbol: SLC1A4
SLC1A4
solute carrier family 1 member 4 0.700 0.385 6.6E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
solute carrier family 1 member 2 0.511 0.731 0.71
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 6487
Gene Symbol: ST3GAL3
ST3GAL3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 0.606 0.654 2.6E-03
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 64801
Gene Symbol: ARV1
ARV1
ARV1 homolog, fatty acid homeostasis modulator 0.691 0.423 3.6E-06
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0