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: 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: 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: 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: 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: 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: 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: 64207
Gene Symbol: IRF2BPL
IRF2BPL
interferon regulatory factor 2 binding protein like 0.631 0.462 0.84
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 63925
Gene Symbol: ZNF335
ZNF335
zinc finger protein 335 0.711 0.462 6.9E-07
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
sodium voltage-gated channel alpha subunit 9 0.543 0.615 4.8E-19
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
sodium voltage-gated channel alpha subunit 3 0.617 0.538 1.00
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 6301
Gene Symbol: SARS1
SARS1
seryl-tRNA synthetase 1 0.558 0.769 1.00
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 6249
Gene Symbol: CLIP1
CLIP1
CAP-Gly domain containing linker protein 1 0.617 0.654 0.68
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 0.534 0.808 4.7E-13
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 60684
Gene Symbol: TRAPPC11
TRAPPC11
trafficking protein particle complex 11 0.650 0.500 4.6E-10
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 5859
Gene Symbol: QARS1
QARS1
glutaminyl-tRNA synthetase 1 0.716 0.231 2.7E-13
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: 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: 6314
Gene Symbol: ATXN7
ATXN7
ataxin 7 0.581 0.654 0.96
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
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