Source: ALL

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: 668
Gene Symbol: FOXL2
FOXL2 		forkhead box L2 0.542 0.692 0.88
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		disease 1.000 None 1.000 48 91 1995 2020
Entrez Id: 116039
Gene Symbol: OSR2
OSR2 		odd-skipped related transciption factor 2 0.792 0.385 0.13
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 3973
Gene Symbol: LHCGR
LHCGR 		luteinizing hormone/choriogonadotropin receptor 0.528 0.692 5.3E-08
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		disease 0.010 None 1.000 1 0 1998 1998
Entrez Id: 57057
Gene Symbol: TBX20
TBX20 		T-box transcription factor 20 0.663 0.346 0.97
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 57379
Gene Symbol: AICDA
AICDA 		activation induced cytidine deaminase 0.463 0.885 9.2E-06
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 60467
Gene Symbol: BPESC1
BPESC1 		blepharophimosis, epicanthus inversus and ptosis candidate 1 1.000 0.192
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B 		HNF1 homeobox B 0.473 0.808 1.00
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		disease 0.010 None 1.000 1 0 2014 2014