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: 60482
Gene Symbol: SLC5A7
SLC5A7
solute carrier family 5 member 7 0.597 0.654 1.5E-02
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 57104
Gene Symbol: PNPLA2
PNPLA2
patatin like phospholipase domain containing 2 0.511 0.846 4.1E-03
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 56983
Gene Symbol: POGLUT1
POGLUT1
protein O-glucosyltransferase 1 0.691 0.385 1.6E-08
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
protein kinase C gamma 0.617 0.500 1.00
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 55280
Gene Symbol: CWF19L1
CWF19L1
CWF19 like cell cycle control factor 1 0.691 0.346 1.4E-15
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
aspartyl-tRNA synthetase 2, mitochondrial 0.638 0.577 9.8E-13
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 55149
Gene Symbol: MTPAP
MTPAP
mitochondrial poly(A) polymerase 0.581 0.769 1.00
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 54834
Gene Symbol: GDAP2
GDAP2
ganglioside induced differentiation associated protein 2 0.839 0.154 1.5E-09
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
kinesin family member 1A 0.559 0.692 1.00
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 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: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 60481
Gene Symbol: ELOVL5
ELOVL5
ELOVL fatty acid elongase 5 0.638 0.462 0.93
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 5981
Gene Symbol: RFC1
RFC1
replication factor C subunit 1 0.541 0.808 0.97
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 59345
Gene Symbol: GNB4
GNB4
G protein subunit beta 4 0.751 0.346 2.4E-03
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
aldehyde dehydrogenase 18 family member A1 0.551 0.769 8.1E-04
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.582 0.654 2.6E-04
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 57716
Gene Symbol: PRX
PRX
periaxin 0.650 0.577 2.1E-14
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
glucosylceramidase beta 2 0.636 0.654 2.0E-20
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 54463
Gene Symbol: RETREG1
RETREG1
reticulophagy regulator 1 0.623 0.538 6.4E-06
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
peripheral myelin protein 22 0.471 0.885 0.91
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
neurofilament light 0.488 0.769
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0
Entrez Id: 440193
Gene Symbol: CCDC88C
CCDC88C
coiled-coil domain containing 88C 0.647 0.346 3.3E-08
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype 0.100 None 0 0