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: C0332790
Disease: Osseous ankylosis
Osseous ankylosis 		disease 0.100 None 0 0
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C0332790
Disease: Osseous ankylosis
Osseous ankylosis 		disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0332790
Disease: Osseous ankylosis
Osseous ankylosis 		disease 0.100 None 0 0
Entrez Id: 54101
Gene Symbol: RIPK4
RIPK4 		receptor interacting serine/threonine kinase 4 0.565 0.654 4.0E-03
CUI: C0332790
Disease: Osseous ankylosis
Osseous ankylosis 		disease 0.100 None 0 0
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R 		parathyroid hormone 1 receptor 0.544 0.731 0.57
CUI: C0332790
Disease: Osseous ankylosis
Osseous ankylosis 		disease 0.100 None 0 0
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		activin A receptor type 1 0.535 0.731 0.33
CUI: C0332790
Disease: Osseous ankylosis
Osseous ankylosis 		disease 0.100 None 0 0