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: 54187
Gene Symbol: NANS
NANS
N-acetylneuraminate synthase 0.545 0.692
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: 7466
Gene Symbol: WFS1
WFS1
wolframin ER transmembrane glycoprotein 0.528 0.846 1.6E-38
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
rotatin 0.619 0.654 9.0E-34
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 85378
Gene Symbol: TUBGCP6
TUBGCP6
tubulin gamma complex associated protein 6 0.695 0.308 2.6E-31
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12
serine protease 12 0.682 0.308 8.4E-29
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 374654
Gene Symbol: KIF7
KIF7
kinesin family member 7 0.528 0.731 2.3E-22
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
dihydropyrimidine dehydrogenase 0.493 0.846 3.4E-22
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 4125
Gene Symbol: MAN2B1
MAN2B1
mannosidase alpha class 2B member 1 0.674 0.462 4.8E-22
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
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: 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: 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: 1593
Gene Symbol: CYP27A1
CYP27A1
cytochrome P450 family 27 subfamily A member 1 0.538 0.731 5.3E-19
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 23189
Gene Symbol: KANK1
KANK1
KN motif and ankyrin repeat domains 1 0.641 0.538 8.0E-18
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 55775
Gene Symbol: TDP1
TDP1
tyrosyl-DNA phosphodiesterase 1 0.612 0.538 1.3E-17
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT
beta 3-glucosyltransferase 0.554 0.731 7.1E-17
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 114034
Gene Symbol: TOE1
TOE1
target of EGR1, exonuclease 0.682 0.462 6.0E-16
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: 51741
Gene Symbol: WWOX
WWOX
WW domain containing oxidoreductase 0.453 0.808 1.2E-15
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
TBC1 domain containing kinase 0.650 0.654 2.1E-15
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
ERCC excision repair 8, CSA ubiquitin ligase complex subunit 0.551 0.885 2.8E-15
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0
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: 54872
Gene Symbol: PIGG
PIGG
phosphatidylinositol glycan anchor biosynthesis class G 0.792 0.231 5.4E-15
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 None 0 0