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: 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: 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: 9401
Gene Symbol: RECQL4
RECQL4
RecQ like helicase 4 0.496 0.808 3.3E-35
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: 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: 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
Entrez Id: 4621
Gene Symbol: MYH3
MYH3
myosin heavy chain 3 0.563 0.654 6.7E-21
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2
heparan sulfate proteoglycan 2 0.438 0.885 1.0E-19
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: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
origin recognition complex subunit 1 0.595 0.654 1.7E-14
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: 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: 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: 7841
Gene Symbol: MOGS
MOGS
mannosyl-oligosaccharide glucosidase 0.626 0.731 5.8E-11
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: 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: 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: 81031
Gene Symbol: SLC2A10
SLC2A10
solute carrier family 2 member 10 0.550 0.615 1.6E-08
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: 89910
Gene Symbol: UBE3B
UBE3B
ubiquitin protein ligase E3B 0.590 0.692 4.2E-08
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease 0.100 None 0 0
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
muscle associated receptor tyrosine kinase 0.570 0.769 4.2E-08
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: 8220
Gene Symbol: ESS2
ESS2
ess-2 splicing factor homolog 0.670 0.615 2.4E-07
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