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: 26090
Gene Symbol: ABHD12
ABHD12 		abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		disease 0.400 strong 1.000 0 0 2014 2018
Entrez Id: 146862
Gene Symbol: UNC45B
UNC45B 		unc-45 myosin chaperone B 0.805 0.192 2.9E-15
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		disease 0.100 None 0 0
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1 		ALMS1 centrosome and basal body associated protein 0.559 0.808 4.5E-60
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		disease 0.100 None 0 0
Entrez Id: 5308
Gene Symbol: PITX2
PITX2 		paired like homeodomain 2 0.489 0.808 0.98
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		disease 0.100 None 0 0
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5 		abhydrolase domain containing 5 0.641 0.538 6.4E-07
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		disease 0.100 None 0 0
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		disease 0.100 None 0 0
Entrez Id: 4942
Gene Symbol: OAT
OAT 		ornithine aminotransferase 0.593 0.731 7.7E-07
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		disease 0.100 None 0 0
Entrez Id: 4041
Gene Symbol: LRP5
LRP5 		LDL receptor related protein 5 0.485 0.846 0.51
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		disease 0.100 None 0 0
Entrez Id: 403
Gene Symbol: ARL3
ARL3 		ADP ribosylation factor like GTPase 3 0.603 0.615 1.4E-03
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		disease 0.100 None 0 0
Entrez Id: 2301
Gene Symbol: FOXE3
FOXE3 		forkhead box E3 0.568 0.654 0.18
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		disease 0.100 None 0 0
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		forkhead box C1 0.483 0.846 0.95
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		disease 0.100 None 0 0
Entrez Id: 1545
Gene Symbol: CYP1B1
CYP1B1 		cytochrome P450 family 1 subfamily B member 1 0.457 0.769 2.2E-05
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		disease 0.100 None 0 0
Entrez Id: 8322
Gene Symbol: FZD4
FZD4 		frizzled class receptor 4 0.490 0.923 0.97
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		disease 0.100 None 0 0