Source: CLINVAR

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: 100533467
Gene Symbol: BIVM-ERCC5
BIVM-ERCC5
BIVM-ERCC5 readthrough 0.736 0.308 1.3E-15
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 1
Entrez Id: 339123
Gene Symbol: JMJD8
JMJD8
jumonji domain containing 8 0.861 0.192 6.1E-14
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 1
Entrez Id: 3746
Gene Symbol: KCNC1
KCNC1
potassium voltage-gated channel subfamily C member 1 0.711 0.154 0.99
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 1
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
MRE11 homolog, double strand break repair nuclease 0.527 0.808 1.3E-12
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 1
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 0.656 0.423 1.6E-08
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 1
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 1
Entrez Id: 63979
Gene Symbol: FIGNL1
FIGNL1
fidgetin like 1 0.805 0.385 1.2E-04
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 1
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
interferon regulatory factor 2 binding protein like 0.631 0.462 0.84
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 1
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
receptor accessory protein 1 0.653 0.423 0.99
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 1
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
SURF1 cytochrome c oxidase assembly factor 0.578 0.654 1.6E-13
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 2
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
alpha tocopherol transfer protein 0.612 0.577 1.4E-03
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 1
Entrez Id: 7507
Gene Symbol: XPA
XPA
XPA, DNA damage recognition and repair factor 0.520 0.846 7.9E-05
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 2
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 1
Entrez Id: 814
Gene Symbol: CAMK4
CAMK4
calcium/calmodulin dependent protein kinase IV 0.621 0.654 0.51
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 1
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
G protein subunit alpha o1 0.523 0.808 0.99
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 1
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1
calpain 1 0.539 0.808 5.9E-10
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 1
Entrez Id: 10273
Gene Symbol: STUB1
STUB1
STIP1 homology and U-box containing protein 1 0.544 0.692 1.9E-02
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 1
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
retinoic acid induced 1 0.545 0.731 1.00
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 1
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
patatin like phospholipase domain containing 6 0.533 0.769 1.9E-13
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 2
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
adenylate cyclase 5 0.617 0.577 1.00
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 1
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
ERCC excision repair 8, CSA ubiquitin ligase complex subunit 0.551 0.885 2.8E-15
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 1
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
colony stimulating factor 1 receptor 0.448 0.808 0.13
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 1
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
ERCC excision repair 5, endonuclease 0.499 0.731 2.7E-13
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 1
Entrez Id: 1644
Gene Symbol: DDC
DDC
dopa decarboxylase 0.535 0.769 3.8E-08
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 1
Entrez Id: 23162
Gene Symbol: MAPK8IP3
MAPK8IP3
mitogen-activated protein kinase 8 interacting protein 3 0.682 0.462 1.00
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 1