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: 10262
Gene Symbol: SF3B4
SF3B4 		splicing factor 3b subunit 4 0.576 0.615 0.99
CUI: C1096086
Disease: Deformity of lower limb
Deformity of lower limb 		disease 0.100 None 0 0
Entrez Id: 11146
Gene Symbol: GLMN
GLMN 		glomulin, FKBP associated protein 0.743 0.385 1.2E-12
CUI: C1096086
Disease: Deformity of lower limb
Deformity of lower limb 		disease 0.100 None 0 0
Entrez Id: 4318
Gene Symbol: MMP9
MMP9 		matrix metallopeptidase 9 0.305 0.923 1.9E-17
CUI: C1096086
Disease: Deformity of lower limb
Deformity of lower limb 		disease 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C1096086
Disease: Deformity of lower limb
Deformity of lower limb 		disease 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: C1096086
Disease: Deformity of lower limb
Deformity of lower limb 		disease 0.100 None 0 0
Entrez Id: 8074
Gene Symbol: FGF23
FGF23 		fibroblast growth factor 23 0.460 0.731 3.1E-02
CUI: C1096086
Disease: Deformity of lower limb
Deformity of lower limb 		disease 0.100 None 0 0