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: 4287
Gene Symbol: ATXN3
ATXN3
ataxin 3 0.521 0.808 0.11
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.120 None 1.000 0 0 2002 2003
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
peripheral myelin protein 22 0.471 0.885 0.91
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.110 None 1.000 0 0 1996 1996
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
zinc finger FYVE-type containing 26 0.636 0.615 4.7E-23
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.110 None 1.000 0 0 2008 2008
Entrez Id: 23111
Gene Symbol: SPART
SPART
spartin 0.588 0.654 3.0E-07
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 60482
Gene Symbol: SLC5A7
SLC5A7
solute carrier family 5 member 7 0.597 0.654 1.5E-02
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 6310
Gene Symbol: ATXN1
ATXN1
ataxin 1 0.534 0.769 0.97
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2
ataxin 2 0.482 0.808 0.85
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
succinate dehydrogenase complex flavoprotein subunit A 0.517 0.731 2.6E-10
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
succinate dehydrogenase complex iron sulfur subunit B 0.474 0.846 2.4E-04
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
succinate dehydrogenase complex subunit D 0.472 0.885 0.34
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: 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: 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: 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: 54840
Gene Symbol: APTX
APTX
aprataxin 0.590 0.500 4.0E-10
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 55154
Gene Symbol: MSTO1
MSTO1
misato mitochondrial distribution and morphology regulator 1 0.582 0.692 1.6E-09
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: 55210
Gene Symbol: ATAD3A
ATAD3A
ATPase family AAA domain containing 3A 0.628 0.692 4.1E-09
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
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: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 55906
Gene Symbol: ZC4H2
ZC4H2
zinc finger C4H2-type containing 0.561 0.731 0.91
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1
phosphoribosyl pyrophosphate synthetase 1 0.584 0.731 0.92
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: 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