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: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.110 None 1.000 1 0 2013 2013
Entrez Id: 5144
Gene Symbol: PDE4D
PDE4D
phosphodiesterase 4D 0.519 0.846 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.110 None 1.000 1 0 2017 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.110 None 1.000 1 0 2008 2008
Entrez Id: 49855
Gene Symbol: SCAPER
SCAPER
S-phase cyclin A associated protein in the ER 0.653 0.500 8.8E-03
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
WD repeat domain 35 0.525 0.692 1.0E-22
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 5977
Gene Symbol: DPF2
DPF2
double PHD fingers 2 0.604 0.731 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 5980
Gene Symbol: REV3L
REV3L
REV3 like, DNA directed polymerase zeta catalytic subunit 0.588 0.654 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
Ras like without CAAX 1 0.527 0.808 0.13
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 57560
Gene Symbol: IFT80
IFT80
intraflagellar transport 80 0.575 0.692 1.4E-19
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 57152
Gene Symbol: SLURP1
SLURP1
secreted LY6/PLAUR domain containing 1 0.560 0.654 0.26
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 6134
Gene Symbol: RPL10
RPL10
ribosomal protein L10 0.568 0.731 0.91
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 56992
Gene Symbol: KIF15
KIF15
kinesin family member 15 0.617 0.654 9.5E-25
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1
RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 5922
Gene Symbol: RASA2
RASA2
RAS p21 protein activator 2 0.579 0.769 7.4E-31
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 57514
Gene Symbol: ARHGAP31
ARHGAP31
Rho GTPase activating protein 31 0.581 0.615 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 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: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6
dedicator of cytokinesis 6 0.610 0.577 1.3E-26
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
WD repeat domain 19 0.554 0.769 4.6E-11
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 1
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 1
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 1
Entrez Id: 58484
Gene Symbol: NLRC4
NLRC4
NLR family CARD domain containing 4 0.556 0.769 9.9E-12
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0