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: 54903
Gene Symbol: MKS1
MKS1
MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease 0.100 None 0 0
Entrez Id: 64359
Gene Symbol: NXN
NXN
nucleoredoxin 0.584 0.577 1.00
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease 0.100 None 0 0
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
ciliogenesis and planar polarity effector 1 0.575 0.692 5.9E-36
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease 0.100 None 0 0
Entrez Id: 6638
Gene Symbol: SNRPN
SNRPN
small nuclear ribonucleoprotein polypeptide N 0.538 0.731 4.3E-02
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease 0.100 None 0 0
Entrez Id: 6659
Gene Symbol: SOX4
SOX4
SRY-box transcription factor 4 0.489 0.808 0.93
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease 0.100 None 0 0
Entrez Id: 6660
Gene Symbol: SOX5
SOX5
SRY-box transcription factor 5 0.545 0.769 1.00
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease 0.100 None 0 0
Entrez Id: 6664
Gene Symbol: SOX11
SOX11
SRY-box transcription factor 11 0.494 0.808 0.86
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease 0.100 None 0 0
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease 0.100 None 0 0
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease 0.100 None 0 0
Entrez Id: 6748
Gene Symbol: SSR4
SSR4
signal sequence receptor subunit 4 0.705 0.423 0.87
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease 0.100 None 0 0
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease 0.100 None 0 0
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
transcription factor 4 0.464 0.846 1.00
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease 0.100 None 0 0
Entrez Id: 7140
Gene Symbol: TNNT3
TNNT3
troponin T3, fast skeletal type 0.653 0.308 2.1E-07
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease 0.100 None 0 0
Entrez Id: 7204
Gene Symbol: TRIO
TRIO
trio Rho guanine nucleotide exchange factor 0.556 0.731 1.00
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease 0.100 None 0 0
Entrez Id: 7474
Gene Symbol: WNT5A
WNT5A
Wnt family member 5A 0.443 0.808 0.99
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease 0.100 None 0 0
Entrez Id: 64131
Gene Symbol: XYLT1
XYLT1
xylosyltransferase 1 0.581 0.731 0.92
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease 0.100 None 0 0
Entrez Id: 55023
Gene Symbol: PHIP
PHIP
pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease 0.100 None 0 0
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease 0.100 None 0 0
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
intraflagellar transport 122 0.560 0.846 2.4E-24
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD
ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease 0.100 None 0 0
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease 0.100 None 0 0
Entrez Id: 56992
Gene Symbol: KIF15
KIF15
kinesin family member 15 0.617 0.654 9.5E-25
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease 0.100 None 0 0
Entrez Id: 57122
Gene Symbol: NUP107
NUP107
nucleoporin 107 0.595 0.500 2.6E-09
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease 0.100 None 0 0