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: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype 0.100 None 0 0
Entrez Id: 6497
Gene Symbol: SKI
SKI
SKI proto-oncogene 0.503 0.808 1.00
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
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
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype 0.100 None 0 0
Entrez Id: 64132
Gene Symbol: XYLT2
XYLT2
xylosyltransferase 2 0.566 0.808 0.93
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype 0.100 None 0 0
Entrez Id: 64131
Gene Symbol: XYLT1
XYLT1
xylosyltransferase 1 0.581 0.731 0.92
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype 0.100 None 0 0
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1
SPARC related modular calcium binding 1 0.565 0.846 9.5E-03
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype 0.100 None 0 0
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype 0.100 None 0 0
Entrez Id: 6239
Gene Symbol: RREB1
RREB1
ras responsive element binding protein 1 0.500 0.808 1.00
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype 0.100 None 0 0
Entrez Id: 6237
Gene Symbol: RRAS
RRAS
RAS related 0.543 0.808 4.7E-03
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype 0.100 None 0 0
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
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
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype 0.100 None 0 0
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
solute carrier family 6 member 8 0.476 0.846 1.00
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype 0.100 None 0 0
Entrez Id: 6664
Gene Symbol: SOX11
SOX11
SRY-box transcription factor 11 0.494 0.808 0.86
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype 0.100 None 0 0
Entrez Id: 6659
Gene Symbol: SOX4
SOX4
SRY-box transcription factor 4 0.489 0.808 0.93
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype 0.100 None 0 0
Entrez Id: 6655
Gene Symbol: SOS2
SOS2
SOS Ras/Rho guanine nucleotide exchange factor 2 0.608 0.692 1.00
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype 0.100 None 0 0
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype 0.100 None 0 0
Entrez Id: 6605
Gene Symbol: SMARCE1
SMARCE1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 0.572 0.769 1.00
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype 0.100 None 0 0
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype 0.100 None 0 0
Entrez Id: 65992
Gene Symbol: DDRGK1
DDRGK1
DDRGK domain containing 1 0.736 0.269 3.1E-07
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype 0.100 None 0 0
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 0.434 0.846 1.00
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype 0.100 None 0 0
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 0.450 0.885 1.00
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
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
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype 0.100 None 0 0
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype 0.100 None 0 0
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
WD repeat domain 19 0.554 0.769 4.6E-11
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype 0.100 None 0 0
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
WD repeat domain 35 0.525 0.692 1.0E-22
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype 0.100 None 0 0