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: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli 		disease 0.110 None < 0.001 0 0 2009 2009
Entrez Id: 10491
Gene Symbol: CRTAP
CRTAP 		cartilage associated protein 0.636 0.654 5.5E-04
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli 		disease 0.100 None 0 0
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10 		FKBP prolyl isomerase 10 0.606 0.538 2.4E-06
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli 		disease 0.100 None 0 0
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1 		serpin family F member 1 0.460 0.846 7.8E-08
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli 		disease 0.100 None 0 0
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli 		disease 0.100 None 0 0
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3 		SMAD family member 3 0.415 0.923 0.80
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli 		disease 0.100 None 0 0
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		heparan sulfate proteoglycan 2 0.438 0.885 1.0E-19
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli 		disease 0.100 None 0 0
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		collagen type I alpha 2 chain 0.486 0.846 1.00
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli 		disease 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli 		disease 0.100 None 0 0
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli 		disease 0.100 None 0 0