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: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
Flexion contracture of proximal interphalangeal joint
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
solute carrier family 16 member 2 0.592 0.577 0.99
Flexion contracture of proximal interphalangeal joint
phenotype 0.100 None 0 0
Entrez Id: 613
Gene Symbol: BCR
BCR
BCR activator of RhoGEF and GTPase 0.431 0.885 0.99
Flexion contracture of proximal interphalangeal joint
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
Flexion contracture of proximal interphalangeal joint
phenotype 0.100 None 0 0
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
receptor associated protein of the synapse 0.593 0.731 1.5E-03
Flexion contracture of proximal interphalangeal joint
phenotype 0.100 None 0 0
Entrez Id: 55644
Gene Symbol: OSGEP
OSGEP
O-sialoglycoprotein endopeptidase 0.626 0.615 7.1E-08
Flexion contracture of proximal interphalangeal joint
phenotype 0.100 None 0 0
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
Flexion contracture of proximal interphalangeal joint
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
Flexion contracture of proximal interphalangeal joint
phenotype 0.100 None 0 0
Entrez Id: 57122
Gene Symbol: NUP107
NUP107
nucleoporin 107 0.595 0.500 2.6E-09
Flexion contracture of proximal interphalangeal joint
phenotype 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
Flexion contracture of proximal interphalangeal joint
phenotype 0.100 None 0 0
Entrez Id: 63976
Gene Symbol: PRDM16
PRDM16
PR/SET domain 16 0.522 0.808 1.00
Flexion contracture of proximal interphalangeal joint
phenotype 0.100 None 0 0
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
nucleotide binding oligomerization domain containing 2 0.423 0.923 2.0E-30
Flexion contracture of proximal interphalangeal joint
phenotype 0.100 None 0 0
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
UPF3B regulator of nonsense mediated mRNA decay 0.619 0.615 0.98
Flexion contracture of proximal interphalangeal joint
phenotype 0.100 None 0 0
Entrez Id: 6497
Gene Symbol: SKI
SKI
SKI proto-oncogene 0.503 0.808 1.00
Flexion contracture of proximal interphalangeal joint
phenotype 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
porcupine O-acyltransferase 0.545 0.692 1.00
Flexion contracture of proximal interphalangeal joint
phenotype 0.100 None 0 0
Entrez Id: 6469
Gene Symbol: SHH
SHH
sonic hedgehog signaling molecule 0.461 0.846 0.98
Flexion contracture of proximal interphalangeal joint
phenotype 0.100 None 0 0
Entrez Id: 64359
Gene Symbol: NXN
NXN
nucleoredoxin 0.584 0.577 1.00
Flexion contracture of proximal interphalangeal joint
phenotype 0.100 None 0 0
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1
limb development membrane protein 1 0.619 0.308 1.3E-08
Flexion contracture of proximal interphalangeal joint
phenotype 0.100 None 0 0
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
Flexion contracture of proximal interphalangeal joint
phenotype 0.100 None 0 0
Entrez Id: 64131
Gene Symbol: XYLT1
XYLT1
xylosyltransferase 1 0.581 0.731 0.92
Flexion contracture of proximal interphalangeal joint
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
Flexion contracture of proximal interphalangeal joint
phenotype 0.100 None 0 0
Entrez Id: 56916
Gene Symbol: SMARCAD1
SMARCAD1
SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 0.656 0.423 1.00
Flexion contracture of proximal interphalangeal joint
phenotype 0.100 None 0 0
Entrez Id: 56006
Gene Symbol: SMG9
SMG9
SMG9 nonsense mediated mRNA decay factor 0.729 0.346 3.5E-13
Flexion contracture of proximal interphalangeal joint
phenotype 0.100 None 0 0
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
geminin DNA replication inhibitor 0.554 0.808 0.11
Flexion contracture of proximal interphalangeal joint
phenotype 0.100 None 0 0
Entrez Id: 51002
Gene Symbol: TPRKB
TPRKB
TP53RK binding protein 0.691 0.385 8.2E-03
Flexion contracture of proximal interphalangeal joint
phenotype 0.100 None 0 0