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: 668
Gene Symbol: FOXL2
FOXL2
forkhead box L2 0.542 0.692 0.88
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.200 None 0.982 0 0 1993 2019
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.130 None 1.000 0 0 2014 2016
Entrez Id: 545
Gene Symbol: ATR
ATR
ATR serine/threonine kinase 0.456 0.923 3.5E-09
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.110 None 1.000 0 0 2007 2007
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1
bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
pyrroline-5-carboxylate reductase 1 0.570 0.654 2.0E-04
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1
SPARC related modular calcium binding 1 0.565 0.846 9.5E-03
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
signaling receptor and transporter of retinol STRA6 0.597 0.731 1.5E-10
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 6595
Gene Symbol: SMARCA2
SMARCA2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 0.527 0.769 1.00
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 6608
Gene Symbol: SMO
SMO
smoothened, frizzled class receptor 0.489 0.731 4.3E-07
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
spalt like transcription factor 1 0.539 0.808 1.00
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 613
Gene Symbol: BCR
BCR
BCR activator of RhoGEF and GTPase 0.431 0.885 0.99
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 5982
Gene Symbol: RFC2
RFC2
replication factor C subunit 2 0.520 0.769 2.2E-06
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
BCL6 corepressor 0.471 0.808 1.00
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 54888
Gene Symbol: NSUN2
NSUN2
NOP2/Sun RNA methyltransferase 2 0.559 0.846 2.6E-04
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
SET domain containing 5 0.560 0.731 1.00
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 55733
Gene Symbol: HHAT
HHAT
hedgehog acyltransferase 0.608 0.577 3.2E-08
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2
multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
mitogen-activated protein kinase 1 0.330 0.923 1.00
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 5648
Gene Symbol: MASP1
MASP1
mannan binding lectin serine peptidase 1 0.565 0.885 1.2E-11
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
GATA zinc finger domain containing 2B 0.593 0.654 1.00
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
WD repeat domain 35 0.525 0.692 1.0E-22
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0