Source: ORPHANET

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: 128866
Gene Symbol: CHMP4B
CHMP4B 		charged multivesicular body protein 4B 0.760 0.231 0.96
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		disease 0.400 None 1.000 1 0 2007 2007
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2 		EPH receptor A2 0.501 0.731 1.1E-05
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		disease 0.310 None 1.000 2 0 2009 2019
Entrez Id: 5309
Gene Symbol: PITX3
PITX3 		paired like homeodomain 3 0.585 0.692 0.81
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		disease 0.310 None 1.000 2 0 2006 2019
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB 		crystallin alpha B 0.515 0.731 2.2E-02
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		disease 0.300 None 1.000 2 0 2006 2014
Entrez Id: 1411
Gene Symbol: CRYBA1
CRYBA1 		crystallin beta A1 0.716 0.269 6.4E-05
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		disease 0.300 None 1.000 1 0 2010 2010
Entrez Id: 2700
Gene Symbol: GJA3
GJA3 		gap junction protein alpha 3 0.647 0.346 1.3E-03
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		disease 0.300 None 1.000 1 0 2010 2010
Entrez Id: 4284
Gene Symbol: MIP
MIP 		major intrinsic protein of lens fiber 0.507 0.846 3.1E-02
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 55229
Gene Symbol: PANK4
PANK4 		pantothenate kinase 4 (inactive) 0.861 0.115 0.98
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		disease 0.300 None 1.000 1 0 2019 2019