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: 6910
Gene Symbol: TBX5
TBX5
T-box transcription factor 5 0.528 0.769 1.00
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group 0.060 None 1.000 6 0 1997 2015
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
twist family bHLH transcription factor 1 0.397 0.846 0.34
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group 0.040 None 1.000 4 0 2004 2013
Entrez Id: 105804841
Gene Symbol: ZRS
ZRS
ZPA regulatory sequence 0.722 0.269
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group 0.020 None 1.000 2 0 2013 2016
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group 0.020 None 0.500 2 0 2001 2017
Entrez Id: 9464
Gene Symbol: HAND2
HAND2
heart and neural crest derivatives expressed 2 0.612 0.500 0.40
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group 0.020 None 1.000 2 0 2005 2013
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13
homeobox D13 0.483 0.808 8.6E-03
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group 0.020 None 1.000 2 1 2008 2018
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group 0.020 None 1.000 2 0 1999 2004
Entrez Id: 26585
Gene Symbol: GREM1
GREM1
gremlin 1, DAN family BMP antagonist 0.508 0.808 0.47
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group 0.010 None 1.000 1 0 2010 2010
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
spalt like transcription factor 4 0.489 0.769 1.00
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group 0.010 None 1.000 1 0 2013 2013
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1
limb development membrane protein 1 0.619 0.308 1.3E-08
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group 0.010 None 1.000 1 0 2000 2000
Entrez Id: 1576
Gene Symbol: CYP3A4
CYP3A4
cytochrome P450 family 3 subfamily A member 4 0.462 0.885 5.8E-11
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group 0.010 None 1.000 1 0 2016 2016
Entrez Id: 7008
Gene Symbol: TEF
TEF
TEF transcription factor, PAR bZIP family member 0.686 0.538 0.63
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group 0.010 None 1.000 1 0 2015 2015
Entrez Id: 7169
Gene Symbol: TPM2
TPM2
tropomyosin 2 0.530 0.654 2.4E-04
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group 0.010 None 1.000 1 1 2007 2007
Entrez Id: 140730
Gene Symbol: RIMS4
RIMS4
regulating synaptic membrane exocytosis 4 0.23
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group 0.010 None 1.000 1 0 2013 2013
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
bestrophin 1 0.465 0.885 1.8E-12
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group 0.010 None 1.000 1 0 2004 2004
Entrez Id: 7979
Gene Symbol: SEM1
SEM1
SEM1 26S proteasome complex subunit 0.633 0.538 1.8E-02
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group 0.010 None 1.000 1 0 2007 2007
Entrez Id: 80067
Gene Symbol: DCAF17
DCAF17
DDB1 and CUL4 associated factor 17 0.653 0.577 3.7E-07
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group 0.010 None 1.000 1 0 2014 2014
Entrez Id: 8074
Gene Symbol: FGF23
FGF23
fibroblast growth factor 23 0.460 0.731 3.1E-02
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group 0.010 None 1.000 1 0 2004 2004
Entrez Id: 8604
Gene Symbol: SLC25A12
SLC25A12
solute carrier family 25 member 12 0.711 0.462 0.22
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group 0.010 None 1.000 1 0 2014 2014
Entrez Id: 8626
Gene Symbol: TP63
TP63
tumor protein p63 0.362 0.769 1.00
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group 0.010 None 1.000 1 0 2002 2002
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
RecQ like helicase 4 0.496 0.808 3.3E-35
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group 0.010 None 1.000 1 0 2015 2015
Entrez Id: 5648
Gene Symbol: MASP1
MASP1
mannan binding lectin serine peptidase 1 0.565 0.885 1.2E-11
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group 0.010 None 1.000 1 0 2015 2015
Entrez Id: 54101
Gene Symbol: RIPK4
RIPK4
receptor interacting serine/threonine kinase 4 0.565 0.654 4.0E-03
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group 0.010 None 1.000 1 0 2018 2018
Entrez Id: 266719
Gene Symbol: RRDX
RRDX
Radial ray deficiency 0.805 0.154
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group 0.010 None 1.000 1 0 2013 2013
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group 0.010 None 1.000 1 0 2005 2005