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: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 4311
Gene Symbol: MME
MME
membrane metalloendopeptidase 0.407 0.808 1.5E-18
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
heat shock protein family B (small) member 1 0.436 0.808 2.8E-07
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
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: 6663
Gene Symbol: SOX10
SOX10
SRY-box transcription factor 10 0.461 0.808 0.99
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 7415
Gene Symbol: VCP
VCP
valosin containing protein 0.469 0.923 1.00
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
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: 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: 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: 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: 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: 10397
Gene Symbol: NDRG1
NDRG1
N-myc downstream regulated 1 0.488 0.731 1.1E-02
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
neurofilament light 0.488 0.769
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 6616
Gene Symbol: SNAP25
SNAP25
synaptosome associated protein 25 0.489 0.808 0.99
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 1890
Gene Symbol: TYMP
TYMP
thymidine phosphorylase 0.495 0.769 1.2E-04
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
myelin protein zero 0.503 0.846 0.27
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 283
Gene Symbol: ANG
ANG
angiogenin 0.511 0.769 0.29
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
gap junction protein beta 1 0.514 0.731 0.85
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B
kinesin family member 1B 0.516 0.808 1.00
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: 1103
Gene Symbol: CHAT
CHAT
choline O-acetyltransferase 0.520 0.808 5.6E-11
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
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