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: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 324
Gene Symbol: APC
APC
APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 4513
Gene Symbol: COX2
COX2
cytochrome c oxidase subunit II 0.352 0.962
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 1312
Gene Symbol: COMT
COMT
catechol-O-methyltransferase 0.400 0.923 1.1E-06
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 3630
Gene Symbol: INS
INS
insulin 0.445 0.923 0.30
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.110 None 1.000 0 0 2002 2016
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 627
Gene Symbol: BDNF
BDNF
brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
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: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 7415
Gene Symbol: VCP
VCP
valosin containing protein 0.469 0.923 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
FA complementation group D2 0.479 0.885 1.1E-30
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
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: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
insulin like growth factor 1 0.318 0.885 0.27
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
KIT ligand 0.473 0.885 0.85
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1
cytochrome c oxidase subunit I 0.441 0.885
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.440 0.885 0.90
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
histone deacetylase 8 0.511 0.885 0.98
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
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: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 0 0