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: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
disease 0.700 None 0.988 246 27 1990 2019
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
superoxide dismutase 1 0.379 0.962 0.18
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
disease 0.080 None 1.000 8 1 1998 2019
Entrez Id: 7124
Gene Symbol: TNF
TNF
tumor necrosis factor 0.231 0.962 0.80
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
disease 0.080 None 1.000 8 0 1990 2017
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
insulin like growth factor binding protein acid labile subunit 0.511 0.846 5.4E-11
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
disease 0.040 None 1.000 4 1 1998 2019
Entrez Id: 6310
Gene Symbol: ATXN1
ATXN1
ataxin 1 0.534 0.769 0.97
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
disease 0.040 None 1.000 4 0 1996 2018
Entrez Id: 5468
Gene Symbol: PPARG
PPARG
peroxisome proliferator activated receptor gamma 0.358 0.885 2.9E-02
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
disease 0.030 None 1.000 3 0 2009 2017
Entrez Id: 3320
Gene Symbol: HSP90AA1
HSP90AA1
heat shock protein 90 alpha family class A member 1 0.411 0.923 0.86
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
disease 0.030 None 1.000 3 0 2006 2013
Entrez Id: 3064
Gene Symbol: HTT
HTT
huntingtin 0.548 0.654 1.00
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
disease 0.030 None 1.000 3 0 2000 2017
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
insulin like growth factor 1 0.318 0.885 0.27
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
disease 0.030 None 1.000 3 0 2009 2018
Entrez Id: 2481
Gene Symbol: FRAXE
FRAXE
fragile site, folic acid type, rare, fra(X)(q28) E 0.636 0.462
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
disease 0.020 None 1.000 2 0 1994 1994
Entrez Id: 836
Gene Symbol: CASP3
CASP3
caspase 3 0.351 0.923 0.10
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
disease 0.020 None 1.000 2 0 1998 2018
Entrez Id: 3308
Gene Symbol: HSPA4
HSPA4
heat shock protein family A (Hsp70) member 4 0.394 0.923 1.00
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
disease 0.020 None 1.000 2 0 2003 2017
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3
ataxin 3 0.521 0.808 0.11
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
disease 0.020 None 1.000 2 0 2000 2014
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
heat shock protein family B (small) member 8 0.570 0.577 4.3E-02
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
disease 0.020 None 1.000 2 0 2015 2017
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
TNF receptor superfamily member 1A 0.409 0.923 0.99
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
disease 0.020 None 1.000 2 0 2000 2002
Entrez Id: 1401
Gene Symbol: CRP
CRP
C-reactive protein 0.299 0.962 3.7E-03
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
disease 0.020 None 1.000 2 0 2017 2019
Entrez Id: 100126296
Gene Symbol: MIR298
MIR298
microRNA 298 0.729 0.346
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
disease 0.020 None 1.000 2 0 2016 2018
Entrez Id: 9948
Gene Symbol: WDR1
WDR1
WD repeat domain 1 0.623 0.654 1.00
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
peripheral myelin protein 22 0.471 0.885 0.91
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 9564
Gene Symbol: BCAR1
BCAR1
BCAR1 scaffold protein, Cas family member 0.518 0.846 1.00
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 989
Gene Symbol: SEPTIN7
SEPTIN7
septin 7 0.700 0.577 1.00
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 55170
Gene Symbol: PRMT6
PRMT6
protein arginine methyltransferase 6 0.670 0.462 3.3E-03
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 55872
Gene Symbol: PBK
PBK
PDZ binding kinase 0.541 0.769 1.2E-06
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
mitogen-activated protein kinase 1 0.330 0.923 1.00
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
prion protein 0.445 0.923 6.3E-04
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
disease 0.010 None 1.000 1 0 1994 1994