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: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C4025663
Disease: Abnormality of tibia morphology
Abnormality of tibia morphology 		disease 0.100 None 0 0
Entrez Id: 8200
Gene Symbol: GDF5
GDF5 		growth differentiation factor 5 0.511 0.692 0.67
CUI: C4025663
Disease: Abnormality of tibia morphology
Abnormality of tibia morphology 		disease 0.100 None 0 0
Entrez Id: 7476
Gene Symbol: WNT7A
WNT7A 		Wnt family member 7A 0.531 0.692 3.6E-02
CUI: C4025663
Disease: Abnormality of tibia morphology
Abnormality of tibia morphology 		disease 0.100 None 0 0
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C4025663
Disease: Abnormality of tibia morphology
Abnormality of tibia morphology 		disease 0.100 None 0 0
Entrez Id: 6916
Gene Symbol: TBXAS1
TBXAS1 		thromboxane A synthase 1 0.619 0.615 1.4E-20
CUI: C4025663
Disease: Abnormality of tibia morphology
Abnormality of tibia morphology 		disease 0.100 None 0 0
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B 		bone morphogenetic protein receptor type 1B 0.573 0.615 1.00
CUI: C4025663
Disease: Abnormality of tibia morphology
Abnormality of tibia morphology 		disease 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C4025663
Disease: Abnormality of tibia morphology
Abnormality of tibia morphology 		disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C4025663
Disease: Abnormality of tibia morphology
Abnormality of tibia morphology 		disease 0.100 None 0 0
Entrez Id: 3248
Gene Symbol: HPGD
HPGD 		15-hydroxyprostaglandin dehydrogenase 0.516 0.731 1.4E-05
CUI: C4025663
Disease: Abnormality of tibia morphology
Abnormality of tibia morphology 		disease 0.100 None 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB 		filamin B 0.458 0.923 6.1E-10
CUI: C4025663
Disease: Abnormality of tibia morphology
Abnormality of tibia morphology 		disease 0.100 None 0 0
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C4025663
Disease: Abnormality of tibia morphology
Abnormality of tibia morphology 		disease 0.100 None 0 0
Entrez Id: 9723
Gene Symbol: SEMA3E
SEMA3E 		semaphorin 3E 0.515 0.769 8.7E-09
CUI: C4025663
Disease: Abnormality of tibia morphology
Abnormality of tibia morphology 		disease 0.100 None 0 0