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: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.450 None 1.000 6 15 1994 2016
Entrez Id: 4883
Gene Symbol: NPR3
NPR3
natriuretic peptide receptor 3 0.633 0.615 1.0E-05
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.300 None 1.000 1 0 1999 1999
Entrez Id: 25
Gene Symbol: ABL1
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.300 moderate 1.000 1 0 2017 2017
Entrez Id: 8322
Gene Symbol: FZD4
FZD4
frizzled class receptor 4 0.490 0.923 0.97
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.300 None 1.000 1 0 2006 2006
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
fibrillin 2 0.505 0.808 1.00
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.120 None 1.000 2 1 1995 2016
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2
EGF containing fibulin extracellular matrix protein 2 0.559 0.692 8.2E-03
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.120 None 1.000 2 0 2009 2016
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 6497
Gene Symbol: SKI
SKI
SKI proto-oncogene 0.503 0.808 1.00
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
UPF3B regulator of nonsense mediated mRNA decay 0.619 0.615 0.98
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD
peptidase D 0.621 0.769 1.5E-14
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 6605
Gene Symbol: SMARCE1
SMARCE1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 0.572 0.769 1.00
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 6611
Gene Symbol: SMS
SMS
spermine synthase 0.491 0.846 0.97
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 6651
Gene Symbol: SON
SON
SON DNA binding protein 0.565 0.769 1.00
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 6239
Gene Symbol: RREB1
RREB1
ras responsive element binding protein 1 0.500 0.808 1.00
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 613
Gene Symbol: BCR
BCR
BCR activator of RhoGEF and GTPase 0.431 0.885 0.99
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 0.579 0.731 1.5E-15
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 5447
Gene Symbol: POR
POR
cytochrome p450 oxidoreductase 0.502 0.769 3.4E-10
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 55644
Gene Symbol: OSGEP
OSGEP
O-sialoglycoprotein endopeptidase 0.626 0.615 7.1E-08
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
protein kinase cGMP-dependent 1 0.603 0.769 1.00
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
mitogen-activated protein kinase 1 0.330 0.923 1.00
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 56603
Gene Symbol: CYP26B1
CYP26B1
cytochrome P450 family 26 subfamily B member 1 0.666 0.500 0.98
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 56945
Gene Symbol: MRPS22
MRPS22
mitochondrial ribosomal protein S22 0.638 0.500 1.5E-05
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 5696
Gene Symbol: PSMB8
PSMB8
proteasome 20S subunit beta 8 0.533 0.808 2.2E-02
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0