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: 144568
Gene Symbol: A2ML1
A2ML1
alpha-2-macroglobulin like 1 0.590 0.692 1.6E-34
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 176
Gene Symbol: ACAN
ACAN
aggrecan 0.528 0.846 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 81794
Gene Symbol: ADAMTS10
ADAMTS10
ADAM metallopeptidase with thrombospondin type 1 motif 10 0.641 0.500 0.84
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 27125
Gene Symbol: AFF4
AFF4
AF4/FMR2 family member 4 0.644 0.769 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 197
Gene Symbol: AHSG
AHSG
alpha 2-HS glycoprotein 0.506 0.846 3.2E-10
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 8092
Gene Symbol: ALX1
ALX1
ALX homeobox 1 0.636 0.462 0.18
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 257
Gene Symbol: ALX3
ALX3
ALX homeobox 3 0.578 0.692 1.9E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
ANTXR cell adhesion molecule 2 0.568 0.808 8.7E-02
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: 8289
Gene Symbol: ARID1A
ARID1A
AT-rich interaction domain 1A 0.455 0.846 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 196528
Gene Symbol: ARID2
ARID2
AT-rich interaction domain 2 0.543 0.808 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 84100
Gene Symbol: ARL6
ARL6
ADP ribosylation factor like GTPase 6 0.636 0.462 1.0E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
ATPase H+ transporting V1 subunit B2 0.606 0.577 0.99
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
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: 92482
Gene Symbol: BBIP1
BBIP1
BBSome interacting protein 1 0.695 0.423 4.2E-03
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
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 0
Entrez Id: 585
Gene Symbol: BBS4
BBS4
Bardet-Biedl syndrome 4 0.647 0.615 1.5E-16
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 129880
Gene Symbol: BBS5
BBS5
Bardet-Biedl syndrome 5 0.659 0.577 4.8E-06
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 633
Gene Symbol: BGN
BGN
biglycan 0.484 0.808 0.45
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 727857
Gene Symbol: BHLHA9
BHLHA9
basic helix-loop-helix family member a9 0.644 0.269 0.30
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 652
Gene Symbol: BMP4
BMP4
bone morphogenetic protein 4 0.422 0.808 0.96
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0