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: 23064
Gene Symbol: SETX
SETX
senataxin 0.570 0.731 0.95
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.200 None 0.941 0 1 2005 2018
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
ATP synthase F0 subunit 6 0.541 0.731
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.170 None 0.875 1 1 2007 2019
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.170 None 1.000 0 1 2006 2018
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
SPG7 matrix AAA peptidase subunit, paraplegin 0.436 0.885 2.0E-36
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.150 None 1.000 1 2 2009 2019
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
coenzyme Q8A 0.674 0.385 9.3E-11
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.150 None 1.000 0 1 2008 2019
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
EBF transcription factor 3 0.595 0.731 1.00
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.110 None 1.000 1 1 2017 2017
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
RNA polymerase III subunit B 0.628 0.654 1.7E-23
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.110 None 1.000 0 1 2019 2019
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
transport and golgi organization 2 homolog 0.666 0.615 1.5E-04
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
bromodomain PHD finger transcription factor 0.560 0.769 1.00
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 51651
Gene Symbol: PTRH2
PTRH2
peptidyl-tRNA hydrolase 2 0.641 0.577 6.4E-04
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.100 None 0 1
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
kinesin family member 1A 0.559 0.692 1.00
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.100 None 0 2
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B 0.510 0.692 1.00
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.100 None 0 2
Entrez Id: 23111
Gene Symbol: SPART
SPART
spartin 0.588 0.654 3.0E-07
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 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: C0004134
Disease: Ataxia
Ataxia
phenotype 0.100 None 0 1