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: 55157
Gene Symbol: DARS2
DARS2
aspartyl-tRNA synthetase 2, mitochondrial 0.638 0.577 9.8E-13
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
phenotype 0.110 None 1.000 0 2 2011 2011
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
transport and golgi organization 2 homolog 0.666 0.615 1.5E-04
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
ERCC excision repair 8, CSA ubiquitin ligase complex subunit 0.551 0.885 2.8E-15
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
phenotype 0.100 None 0 1
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
SPG7 matrix AAA peptidase subunit, paraplegin 0.436 0.885 2.0E-36
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
phenotype 0.100 None 0 3
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
phenotype 0.100 None 0 1
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A
ATPase H+ transporting V1 subunit A 0.579 0.615 0.87
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
phenotype 0.100 None 0 1
Entrez Id: 51102
Gene Symbol: MECR
MECR
mitochondrial trans-2-enoyl-CoA reductase 0.736 0.385 2.2E-05
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
phenotype 0.100 None 0 1
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
phenotype 0.100 None 0 1
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
GTP cyclohydrolase 1 0.511 0.846 0.90
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
phenotype 0.100 None 0 1
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1
spectrin repeat containing nuclear envelope protein 1 0.511 0.846 3.2E-52
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
phenotype 0.100 None 0 1
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
DEAD-box helicase 3 X-linked 0.537 0.769 1.00
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
phenotype 0.100 None 0 1
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
colony stimulating factor 1 receptor 0.448 0.808 0.13
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
phenotype 0.100 None 0 1
Entrez Id: 7343
Gene Symbol: UBTF
UBTF
upstream binding transcription factor 0.705 0.462 1.00
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
phenotype 0.100 None 0 1