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: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C4021744
Disease: Abnormality of the wrist
Abnormality of the wrist 		disease 0.100 None 0 0
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1 		limb development membrane protein 1 0.619 0.308 1.3E-08
CUI: C4021744
Disease: Abnormality of the wrist
Abnormality of the wrist 		disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C4021744
Disease: Abnormality of the wrist
Abnormality of the wrist 		disease 0.100 None 0 0
Entrez Id: 5718
Gene Symbol: PSMD12
PSMD12 		proteasome 26S subunit, non-ATPase 12 0.578 0.808 1.00
CUI: C4021744
Disease: Abnormality of the wrist
Abnormality of the wrist 		disease 0.100 None 0 0
Entrez Id: 54808
Gene Symbol: DYM
DYM 		dymeclin 0.563 0.769 3.6E-13
CUI: C4021744
Disease: Abnormality of the wrist
Abnormality of the wrist 		disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C4021744
Disease: Abnormality of the wrist
Abnormality of the wrist 		disease 0.100 None 0 0
Entrez Id: 2335
Gene Symbol: FN1
FN1 		fibronectin 1 0.365 0.962 1.4E-03
CUI: C4021744
Disease: Abnormality of the wrist
Abnormality of the wrist 		disease 0.100 None 0 0
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		bromodomain PHD finger transcription factor 0.560 0.769 1.00
CUI: C4021744
Disease: Abnormality of the wrist
Abnormality of the wrist 		disease 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C4021744
Disease: Abnormality of the wrist
Abnormality of the wrist 		disease 0.100 None 0 0
Entrez Id: 6926
Gene Symbol: TBX3
TBX3 		T-box transcription factor 3 0.525 0.769 0.99
CUI: C4021744
Disease: Abnormality of the wrist
Abnormality of the wrist 		disease 0.100 None 0 0