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: 773
Gene Symbol: CACNA1A
CACNA1A
calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
phenotype 0.140 None 1.000 0 0 1999 2019
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
phenotype 0.130 None 0.667 0 0 2011 2017
Entrez Id: 6507
Gene Symbol: SLC1A3
SLC1A3
solute carrier family 1 member 3 0.573 0.577 0.99
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
phenotype 0.120 None 1.000 0 0 2005 2009
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
phenotype 0.110 None 1.000 0 0 2016 2016
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
phenotype 0.110 None 1.000 0 0 2011 2011
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
phenotype 0.100 None 0 0
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
perforin 1 0.540 0.692 5.5E-06
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
phenotype 0.100 None 0 0
Entrez Id: 5657
Gene Symbol: PRTN3
PRTN3
proteinase 3 0.503 0.808 3.8E-05
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
phenotype 0.100 None 0 0
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
phenotype 0.100 None 0 0
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
secreted phosphoprotein 1 0.353 0.885 2.1E-06
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
phenotype 0.100 None 0 0
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
signal transducer and activator of transcription 4 0.471 0.769 0.77
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
phenotype 0.100 None 0 0
Entrez Id: 6821
Gene Symbol: SUOX
SUOX
sulfite oxidase 0.638 0.615 9.4E-07
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
phenotype 0.100 None 0 0
Entrez Id: 712
Gene Symbol: C1QA
C1QA
complement C1q A chain 0.623 0.654 3.8E-03
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
phenotype 0.100 None 0 0
Entrez Id: 715
Gene Symbol: C1R
C1R
complement C1r 0.638 0.654 0.78
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
phenotype 0.100 None 0 0
Entrez Id: 727676
Gene Symbol: SNORD118
SNORD118
small nucleolar RNA, C/D box 118 0.686 0.462
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
phenotype 0.100 None 0 0
Entrez Id: 80169
Gene Symbol: CTC1
CTC1
CST telomere replication complex component 1 0.601 0.538 1.6E-11
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
phenotype 0.100 None 0 0
Entrez Id: 5422
Gene Symbol: POLA1
POLA1
DNA polymerase alpha 1, catalytic subunit 0.653 0.731 1.00
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
phenotype 0.100 None 0 0
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
adenosine deaminase 2 0.545 0.846 8.1E-08
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
phenotype 0.100 None 0 0
Entrez Id: 1284
Gene Symbol: COL4A2
COL4A2
collagen type IV alpha 2 chain 0.563 0.654 3.6E-15
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
phenotype 0.100 None 0 0
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
cytotoxic T-lymphocyte associated protein 4 0.369 0.923 0.94
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
phenotype 0.100 None 0 0
Entrez Id: 170302
Gene Symbol: ARX
ARX
aristaless related homeobox 0.516 0.654 0.91
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
phenotype 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
phenotype 0.100 None 0 0
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
protein tyrosine phosphatase non-receptor type 22 0.438 0.846 3.5E-21
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
phenotype 0.100 None 0 0
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
glutaryl-CoA dehydrogenase 0.691 0.385 4.9E-03
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
phenotype 0.100 None 0 0
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
G protein subunit alpha q 0.516 0.808 0.98
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
phenotype 0.100 None 0 0