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: 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: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 1312
Gene Symbol: COMT
COMT
catechol-O-methyltransferase 0.400 0.923 1.1E-06
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 2006
Gene Symbol: ELN
ELN
elastin 0.415 0.885 2.1E-14
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
SMAD family member 3 0.415 0.923 0.80
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
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: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.419 0.846 1.00
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 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: 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: 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: 7042
Gene Symbol: TGFB2
TGFB2
transforming growth factor beta 2 0.433 0.885 1.00
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 4015
Gene Symbol: LOX
LOX
lysyl oxidase 0.447 0.846 0.99
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
transforming growth factor beta receptor 1 0.451 0.885 0.85
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 1
Entrez Id: 875
Gene Symbol: CBS
CBS
cystathionine beta-synthase 0.465 0.885 3.1E-05
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.476 0.769 1.00
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
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: 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: 51684
Gene Symbol: SUFU
SUFU
SUFU negative regulator of hedgehog signaling 0.493 0.769 1.00
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0