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: 2703
Gene Symbol: GJA8
GJA8 		gap junction protein alpha 8 0.587 0.577 2.2E-03
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		disease 0.610 None 1.000 2 0 2006 2010
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1 		crystallin beta B1 0.686 0.231 7.0E-04
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		disease 0.330 None 1.000 2 0 2005 2016
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA 		crystallin alpha A 0.653 0.385 0.17
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		disease 0.310 None 1.000 3 0 2006 2011
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC 		crystallin gamma C 0.612 0.577 6.1E-04
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		disease 0.300 None 1.000 2 0 2009 2012
Entrez Id: 1413
Gene Symbol: CRYBA4
CRYBA4 		crystallin beta A4 0.716 0.269 3.5E-09
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		disease 0.300 None 1.000 1 0 2010 2010
Entrez Id: 1415
Gene Symbol: CRYBB2
CRYBB2 		crystallin beta B2 0.623 0.462 0.39
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		disease 0.300 None 1.000 1 0 2011 2011
Entrez Id: 1421
Gene Symbol: CRYGD
CRYGD 		crystallin gamma D 0.510 0.808 3.0E-04
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		disease 0.300 None 1.000 1 0 2007 2007
Entrez Id: 4094
Gene Symbol: MAF
MAF 		MAF bZIP transcription factor 0.623 0.769 0.74
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		disease 0.300 None 1.000 1 0 2007 2007