Source: ALL

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: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease 0.120 None 1.000 2 3 2016 2016
Entrez Id: 155435
Gene Symbol: RBM33
RBM33
RNA binding motif protein 33 0.890 0.231 1.00
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.423 0.923 1.00
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4842
Gene Symbol: NOS1
NOS1
nitric oxide synthase 1 0.408 0.885 1.00
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease 0.010 None 1.000 1 3 2018 2018
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
notch receptor 1 0.369 0.885 1.00
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
solute carrier family 12 member 5 0.570 0.654 1.00
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
lysine demethylase 5C 0.581 0.538 1.00
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 9043
Gene Symbol: SPAG9
SPAG9
sperm associated antigen 9 0.566 0.769 1.00
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 23036
Gene Symbol: ZNF292
ZNF292
zinc finger protein 292 0.695 0.423 1.00
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease 0.100 None 0 1
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
mediator complex subunit 13L 0.617 0.538 1.00
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease 0.100 None 0 1
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease 0.100 None 0 1
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
calcium voltage-gated channel subunit alpha1 D 0.582 0.577 1.00
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease 0.100 None 0 0
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease 0.110 None 1.000 4 1 1989 2017
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
LDL receptor related protein 2 0.491 0.846 1.00
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta 0.319 0.885 1.00
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 25
Gene Symbol: ABL1
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease 0.040 None 1.000 4 0 2008 2013
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease 0.100 None 0 1
Entrez Id: 3066
Gene Symbol: HDAC2
HDAC2
histone deacetylase 2 0.476 0.846 1.00
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6421
Gene Symbol: SFPQ
SFPQ
splicing factor proline and glutamine rich 0.593 0.654 1.00
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 5990
Gene Symbol: RFX2
RFX2
regulatory factor X2 0.890 0.154 1.00
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta 0.322 0.885 1.00
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
spastin 0.579 0.577 1.00
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease 0.100 None 0 1