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: 1738
Gene Symbol: DLD
DLD
dihydrolipoamide dehydrogenase 0.517 0.769 9.5E-03
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.120 None 1.000 2 0 1980 1981
Entrez Id: 6036
Gene Symbol: RNASE2
RNASE2
ribonuclease A family member 2 0.621 0.692
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.010 None 1.000 1 0 1989 1989
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2
5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.010 None 1.000 1 0 1992 1992
Entrez Id: 5053
Gene Symbol: PAH
PAH
phenylalanine hydroxylase 0.516 0.769 6.4E-23
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.010 None 1.000 1 0 1993 1993
Entrez Id: 25801
Gene Symbol: GCA
GCA
grancalcin 0.590 0.731 1.4E-04
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.010 None 1.000 1 0 1995 1995
Entrez Id: 7349
Gene Symbol: UCN
UCN
urocortin 0.539 0.769 0.45
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.010 None 1.000 1 0 1995 1995
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma 0.320 0.885 1.4E-06
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.010 None 1.000 1 0 1997 1997
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta 0.319 0.885 1.00
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.010 None 1.000 1 0 1997 1997
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.110 None 1.000 1 0 1997 1997
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta 0.322 0.885 1.00
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.010 None 1.000 1 0 1997 1997
Entrez Id: 1026
Gene Symbol: CDKN1A
CDKN1A
cyclin dependent kinase inhibitor 1A 0.403 0.769 1.9E-03
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.010 None 1.000 1 0 1998 1998
Entrez Id: 56996
Gene Symbol: SLC12A9
SLC12A9
solute carrier family 12 member 9 0.454 0.769 1.2E-15
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.010 None 1.000 1 0 1998 1998
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
oligophrenin 1 0.633 0.538 1.00
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.010 None 1.000 1 0 1999 1999
Entrez Id: 889
Gene Symbol: KRIT1
KRIT1
KRIT1 ankyrin repeat containing 0.500 0.808 6.9E-04
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.010 None 1.000 1 0 1999 1999
Entrez Id: 805
Gene Symbol: CALM2
CALM2
calmodulin 2 0.472 0.808 0.92
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.010 None 1.000 1 0 1999 1999
Entrez Id: 79823
Gene Symbol: CAMKMT
CAMKMT
calmodulin-lysine N-methyltransferase 0.510 0.808 1.4E-15
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.010 None 1.000 1 0 1999 1999
Entrez Id: 808
Gene Symbol: CALM3
CALM3
calmodulin 3 0.485 0.846 0.93
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.010 None 1.000 1 0 1999 1999
Entrez Id: 2026
Gene Symbol: ENO2
ENO2
enolase 2 0.475 0.846 0.38
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.010 None 1.000 1 0 1999 1999
Entrez Id: 801
Gene Symbol: CALM1
CALM1
calmodulin 1 0.472 0.808 0.94
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.010 None 1.000 1 0 1999 1999
Entrez Id: 9585
Gene Symbol: KIF20B
KIF20B
kinesin family member 20B 0.670 0.462 3.7E-23
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.010 None 1.000 1 0 2000 2000
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.020 None 1.000 2 0 1998 2001
Entrez Id: 7545
Gene Symbol: ZIC1
ZIC1
Zic family member 1 0.545 0.731 0.93
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.010 None 1.000 1 0 2001 2001
Entrez Id: 6711
Gene Symbol: SPTBN1
SPTBN1
spectrin beta, non-erythrocytic 1 0.619 0.538 1.00
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.010 None 1.000 1 0 2001 2001
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.010 None 1.000 1 0 2001 2001
Entrez Id: 3742
Gene Symbol: KCNA6
KCNA6
potassium voltage-gated channel subfamily A member 6 0.792 0.154 0.50
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.010 None 1.000 1 0 2001 2001