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: 4089
Gene Symbol: SMAD4
SMAD4
SMAD family member 4 0.401 0.808 1.00
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype 0.110 None 1.000 0 0 2017 2017
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype 0.110 None 1.000 0 0 2015 2015
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype 0.110 None 1.000 0 0 2016 2016
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
spalt like transcription factor 4 0.489 0.769 1.00
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype 0.100 None 0 0
Entrez Id: 5696
Gene Symbol: PSMB8
PSMB8
proteasome 20S subunit beta 8 0.533 0.808 2.2E-02
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype 0.100 None 0 0
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
histone deacetylase 8 0.511 0.885 0.98
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype 0.100 None 0 0
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
SET domain containing 5 0.560 0.731 1.00
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype 0.100 None 0 0
Entrez Id: 54829
Gene Symbol: ASPN
ASPN
asporin 0.636 0.500 1.0E-07
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype 0.100 None 0 0
Entrez Id: 54808
Gene Symbol: DYM
DYM
dymeclin 0.563 0.769 3.6E-13
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype 0.100 None 0 0
Entrez Id: 54676
Gene Symbol: GTPBP2
GTPBP2
GTP binding protein 2 0.736 0.423 0.32
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype 0.100 None 0 0
Entrez Id: 57222
Gene Symbol: ERGIC1
ERGIC1
endoplasmic reticulum-golgi intermediate compartment 1 0.700 0.423 0.65
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype 0.100 None 0 0
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
parathyroid hormone 1 receptor 0.544 0.731 0.57
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype 0.100 None 0 0
Entrez Id: 57724
Gene Symbol: EPG5
EPG5
ectopic P-granules autophagy protein 5 homolog 0.623 0.769 1.4E-13
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype 0.100 None 0 0
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
RAD21 cohesin complex component 0.528 0.846 1.00
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype 0.100 None 0 0
Entrez Id: 5982
Gene Symbol: RFC2
RFC2
replication factor C subunit 2 0.520 0.769 2.2E-06
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype 0.100 None 0 0
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
FKBP prolyl isomerase 10 0.606 0.538 2.4E-06
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype 0.100 None 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype 0.100 None 0 0
Entrez Id: 54507
Gene Symbol: ADAMTSL4
ADAMTSL4
ADAMTS like 4 0.656 0.577 2.6E-28
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype 0.100 None 0 0
Entrez Id: 5352
Gene Symbol: PLOD2
PLOD2
procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 0.559 0.654 6.7E-08
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype 0.100 None 0 0
Entrez Id: 411
Gene Symbol: ARSB
ARSB
arylsulfatase B 0.595 0.692 7.0E-09
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype 0.100 None 0 0
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
matrilin 3 0.644 0.385 1.4E-08
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype 0.100 None 0 0
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype 0.100 None 0 0