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: 50717
Gene Symbol: DCAF8
DCAF8
DDB1 and CUL4 associated factor 8 0.821 0.115 1.00
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 65260
Gene Symbol: COA7
COA7
cytochrome c oxidase assembly factor 7 (putative) 0.792 0.231 6.0E-02
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 55187
Gene Symbol: VPS13D
VPS13D
vacuolar protein sorting 13 homolog D 0.769 0.346 1.1E-06
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 29967
Gene Symbol: LRP12
LRP12
LDL receptor related protein 12 0.743 0.462 1.00
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 64837
Gene Symbol: KLC2
KLC2
kinesin light chain 2 0.736 0.346 0.98
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1
adenylosuccinate synthase 1 0.722 0.385 2.8E-07
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 56704
Gene Symbol: JPH1
JPH1
junctophilin 1 0.705 0.269 0.77
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 8565
Gene Symbol: YARS1
YARS1
tyrosyl-tRNA synthetase 1 0.705 0.500 1.0E-03
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 10749
Gene Symbol: KIF1C
KIF1C
kinesin family member 1C 0.700 0.500 0.72
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 9499
Gene Symbol: MYOT
MYOT
myotilin 0.695 0.385 3.4E-08
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 57731
Gene Symbol: SPTBN4
SPTBN4
spectrin beta, non-erythrocytic 4 0.686 0.462 1.00
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5
pleckstrin homology and RhoGEF domain containing G5 0.674 0.385 3.4E-06
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 8139
Gene Symbol: GAN
GAN
gigaxonin 0.674 0.500 2.5E-02
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 200205
Gene Symbol: IBA57
IBA57
iron-sulfur cluster assembly factor IBA57 0.666 0.423 8.4E-03
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
SH3 domain and tetratricopeptide repeats 2 0.666 0.385 8.3E-16
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 22948
Gene Symbol: CCT5
CCT5
chaperonin containing TCP1 subunit 5 0.663 0.462 1.00
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
myosin heavy chain 14 0.663 0.577 4.2E-02
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 8898
Gene Symbol: MTMR2
MTMR2
myotubularin related protein 2 0.659 0.538 3.0E-07
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 644096
Gene Symbol: SDHAF1
SDHAF1
succinate dehydrogenase complex assembly factor 1 0.656 0.462 8.7E-02
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 4704
Gene Symbol: NDUFA9
NDUFA9
NADH:ubiquinone oxidoreductase subunit A9 0.653 0.385 4.8E-03
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
receptor accessory protein 1 0.653 0.423 0.99
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 57716
Gene Symbol: PRX
PRX
periaxin 0.650 0.577 2.1E-14
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 9516
Gene Symbol: LITAF
LITAF
lipopolysaccharide induced TNF factor 0.650 0.462 3.1E-02
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 127833
Gene Symbol: SYT2
SYT2
synaptotagmin 2 0.647 0.538 0.98
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0