Source: HPO

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: 4864
Gene Symbol: NPC1
NPC1
NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.400 None 1.000 0 0 2011 2011
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
phosphodiesterase 8B 0.638 0.500 1.00
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.400 None 1.000 0 0 2010 2010
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
pantothenate kinase 2 0.559 0.808 7.4E-07
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.130 None 1.000 0 0 2004 2018
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
presenilin 1 0.469 0.846 0.97
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.130 None 1.000 0 0 2004 2008
Entrez Id: 1356
Gene Symbol: CP
CP
ceruloplasmin 0.466 0.846 4.2E-10
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.130 None 1.000 0 0 1996 2018
Entrez Id: 93986
Gene Symbol: FOXP2
FOXP2
forkhead box P2 0.545 0.808 1.00
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2
ubiquilin 2 0.656 0.462 0.85
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
gap junction protein beta 1 0.514 0.731 0.85
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.110 None 1.000 0 0 2008 2008
Entrez Id: 2395
Gene Symbol: FXN
FXN
frataxin 0.510 0.654 0.34
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.110 None 1.000 0 0 1999 1999
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1
NK2 homeobox 1 0.457 0.808 0.36
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.110 None 1.000 0 0 2004 2004
Entrez Id: 9213
Gene Symbol: XPR1
XPR1
xenotropic and polytropic retrovirus receptor 1 0.488 0.731 1.00
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
glutamate ionotropic receptor NMDA type subunit 2A 0.522 0.808 1.00
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.110 None < 0.001 0 0 2015 2015
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1
inositol 1,4,5-trisphosphate receptor type 1 0.534 0.846 1.00
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.110 None 1.000 0 0 2011 2011
Entrez Id: 6611
Gene Symbol: SMS
SMS
spermine synthase 0.491 0.846 0.97
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
arginyl-tRNA synthetase 1 0.604 0.538 3.3E-08
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 0
Entrez Id: 6224
Gene Symbol: RPS20
RPS20
ribosomal protein S20 0.610 0.692 2.1E-02
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 0
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.582 0.654 2.6E-04
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 0
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
aldehyde dehydrogenase 18 family member A1 0.551 0.769 8.1E-04
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 0
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 0
Entrez Id: 5903
Gene Symbol: RANBP2
RANBP2
RAN binding protein 2 0.578 0.615 1.00
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 0
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
glucosylceramidase beta 2 0.636 0.654 2.0E-20
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 0
Entrez Id: 5654
Gene Symbol: HTRA1
HTRA1
HtrA serine peptidase 1 0.532 0.692 4.9E-04
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 0
Entrez Id: 5660
Gene Symbol: PSAP
PSAP
prosaposin 0.532 0.846 0.99
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 0