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: 10060
Gene Symbol: ABCC9
ABCC9
ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 286
Gene Symbol: ANK1
ANK1
ankyrin 1 0.540 0.885 1.00
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A
ATPase H+ transporting V1 subunit A 0.579 0.615 0.87
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
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: 9031
Gene Symbol: BAZ1B
BAZ1B
bromodomain adjacent to zinc finger domain 1B 0.530 0.731 1.00
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: 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: 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: 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: 1123
Gene Symbol: CHN1
CHN1
chimerin 1 0.573 0.615 3.1E-02
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 7461
Gene Symbol: CLIP2
CLIP2
CAP-Gly domain containing linker protein 2 0.529 0.808 1.00
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 84570
Gene Symbol: COL25A1
COL25A1
collagen type XXV alpha 1 chain 0.599 0.538 1.6E-18
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 10584
Gene Symbol: COLEC10
COLEC10
collectin subfamily member 10 0.621 0.692 2.6E-03
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 78989
Gene Symbol: COLEC11
COLEC11
collectin subfamily member 11 0.641 0.654 1.8E-02
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 1399
Gene Symbol: CRKL
CRKL
CRK like proto-oncogene, adaptor protein 0.553 0.769 0.45
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
cullin 4B 0.556 0.769 1.00
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 51339
Gene Symbol: DACT1
DACT1
dishevelled binding antagonist of beta catenin 1 0.547 0.692 0.40
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 8642
Gene Symbol: DCHS1
DCHS1
dachsous cadherin-related 1 0.592 0.731 1.00
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 9993
Gene Symbol: DGCR2
DGCR2
DiGeorge syndrome critical region gene 2 0.623 0.731 5.2E-06
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 8214
Gene Symbol: DGCR6
DGCR6
DiGeorge syndrome critical region gene 6 0.695 0.500 9.8E-12
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 54487
Gene Symbol: DGCR8
DGCR8
DGCR8 microprocessor complex subunit 0.579 0.731 1.00
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
DNA methyltransferase 3 alpha 0.445 0.846 7.4E-39
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 2006
Gene Symbol: ELN
ELN
elastin 0.415 0.885 2.1E-14
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
ERCC excision repair 1, endonuclease non-catalytic subunit 0.445 0.846 1.6E-07
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0