Source: ALL

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: 1311
Gene Symbol: COMP
COMP
cartilage oligomeric matrix protein 0.503 0.808 1.3E-09
CUI: C0086437
Disease: Joint laxity
Joint laxity
phenotype 0.400 None 1.000 1 0 1999 1999
Entrez Id: 84627
Gene Symbol: ZNF469
ZNF469
zinc finger protein 469 0.584 0.769 0.72
CUI: C0086437
Disease: Joint laxity
Joint laxity
phenotype 0.400 None 1.000 1 0 2008 2008
Entrez Id: 113189
Gene Symbol: CHST14
CHST14
carbohydrate sulfotransferase 14 0.638 0.654 0.45
CUI: C0086437
Disease: Joint laxity
Joint laxity
phenotype 0.300 None 1.000 1 0 2010 2010
Entrez Id: 5982
Gene Symbol: RFC2
RFC2
replication factor C subunit 2 0.520 0.769 2.2E-06
CUI: C0086437
Disease: Joint laxity
Joint laxity
phenotype 0.100 None 0 0
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.392 0.885 1.00
CUI: C0086437
Disease: Joint laxity
Joint laxity
phenotype 0.100 None 0 0
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
Rac family small GTPase 1 0.429 0.962 0.76
CUI: C0086437
Disease: Joint laxity
Joint laxity
phenotype 0.100 None 0 0
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
aldehyde dehydrogenase 18 family member A1 0.551 0.769 8.1E-04
CUI: C0086437
Disease: Joint laxity
Joint laxity
phenotype 0.100 None 0 0
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
pyrroline-5-carboxylate reductase 1 0.570 0.654 2.0E-04
CUI: C0086437
Disease: Joint laxity
Joint laxity
phenotype 0.100 None 0 0
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C0086437
Disease: Joint laxity
Joint laxity
phenotype 0.100 None 0 0
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0086437
Disease: Joint laxity
Joint laxity
phenotype 0.100 None 0 1
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
WD repeat domain 19 0.554 0.769 4.6E-11
CUI: C0086437
Disease: Joint laxity
Joint laxity
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: C0086437
Disease: Joint laxity
Joint laxity
phenotype 0.100 None 0 0
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0086437
Disease: Joint laxity
Joint laxity
phenotype 0.100 None 0 0
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
GATA zinc finger domain containing 2B 0.593 0.654 1.00
CUI: C0086437
Disease: Joint laxity
Joint laxity
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: C0086437
Disease: Joint laxity
Joint laxity
phenotype 0.100 None 0 0
Entrez Id: 60482
Gene Symbol: SLC5A7
SLC5A7
solute carrier family 5 member 7 0.597 0.654 1.5E-02
CUI: C0086437
Disease: Joint laxity
Joint laxity
phenotype 0.100 None 0 0
Entrez Id: 6536
Gene Symbol: SLC6A9
SLC6A9
solute carrier family 6 member 9 0.641 0.500 2.2E-05
CUI: C0086437
Disease: Joint laxity
Joint laxity
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: C0086437
Disease: Joint laxity
Joint laxity
phenotype 0.100 None 0 0
Entrez Id: 6497
Gene Symbol: SKI
SKI
SKI proto-oncogene 0.503 0.808 1.00
CUI: C0086437
Disease: Joint laxity
Joint laxity
phenotype 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C0086437
Disease: Joint laxity
Joint laxity
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: C0086437
Disease: Joint laxity
Joint laxity
phenotype 0.100 None 0 0
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
interferon regulatory factor 2 binding protein like 0.631 0.462 0.84
CUI: C0086437
Disease: Joint laxity
Joint laxity
phenotype 0.100 None 0 1
Entrez Id: 6418
Gene Symbol: SET
SET
SET nuclear proto-oncogene 0.507 0.808 1.00
CUI: C0086437
Disease: Joint laxity
Joint laxity
phenotype 0.100 None 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1
prolyl 3-hydroxylase 1 0.736 0.231 2.3E-20
CUI: C0086437
Disease: Joint laxity
Joint laxity
phenotype 0.100 None 0 0
Entrez Id: 64131
Gene Symbol: XYLT1
XYLT1
xylosyltransferase 1 0.581 0.731 0.92
CUI: C0086437
Disease: Joint laxity
Joint laxity
phenotype 0.100 None 0 0