Source: HPO

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: 2778
Gene Symbol: GNAS
GNAS
GNAS complex locus 0.420 0.885 0.68
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.450 None 1.000 0 0 2003 2013
Entrez Id: 9759
Gene Symbol: HDAC4
HDAC4
histone deacetylase 4 0.484 0.885 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.440 None 1.000 0 0 2010 2015
Entrez Id: 255758
Gene Symbol: TCTEX1D2
TCTEX1D2
Tctex1 domain containing 2 0.751 0.346 3.2E-04
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.400 None 1.000 0 0 2015 2015
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
SMAD family member 4 0.401 0.808 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.400 None 1.000 0 0 2011 2011
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
parathyroid hormone like hormone 0.453 0.846 0.81
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.180 None 1.000 0 0 2010 2019
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
receptor tyrosine kinase like orphan receptor 2 0.498 0.731 1.2E-04
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.160 None 0.833 0 0 2002 2019
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13
homeobox D13 0.483 0.808 8.6E-03
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.150 None 1.000 0 0 2003 2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.140 None 1.000 0 0 2012 2016
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.130 None 1.000 0 0 1994 2005
Entrez Id: 8200
Gene Symbol: GDF5
GDF5
growth differentiation factor 5 0.511 0.692 0.67
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.130 None 1.000 0 0 2006 2013
Entrez Id: 3549
Gene Symbol: IHH
IHH
Indian hedgehog signaling molecule 0.573 0.538 0.31
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.130 None 1.000 0 0 2004 2010
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
bone morphogenetic protein receptor type 1B 0.573 0.615 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.130 None 1.000 0 0 2015 2018
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.130 None 1.000 0 0 2001 2019
Entrez Id: 5139
Gene Symbol: PDE3A
PDE3A
phosphodiesterase 3A 0.670 0.577 1.9E-04
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.120 None 1.000 0 0 2015 2018
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
protein arginine methyltransferase 7 0.674 0.538 5.5E-15
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.120 None 1.000 0 0 2017 2019
Entrez Id: 22856
Gene Symbol: CHSY1
CHSY1
chondroitin sulfate synthase 1 0.612 0.615 0.71
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.120 None 1.000 0 0 2010 2012
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT
beta 3-glucosyltransferase 0.554 0.731 7.1E-17
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.110 None 1.000 0 0 2019 2019
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 0 0 2013 2013
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13
homeobox A13 0.552 0.654 0.96
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.110 None 1.000 0 0 2005 2005
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.110 None 1.000 0 0 2007 2007
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 0 0 2008 2008
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
parathyroid hormone 1 receptor 0.544 0.731 0.57
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.110 None 1.000 0 0 2010 2010
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 0 0 2017 2017
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.110 None 1.000 0 0 1998 1998
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
twist family bHLH transcription factor 1 0.397 0.846 0.34
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.110 None 1.000 0 0 1997 1997