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: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease 0.700 None 1.000 39 12 1994 2020
Entrez Id: 54507
Gene Symbol: ADAMTSL4
ADAMTSL4
ADAMTS like 4 0.656 0.577 2.6E-28
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease 0.480 None 1.000 10 3 2009 2019
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
latent transforming growth factor beta binding protein 2 0.572 0.692 7.4E-04
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease 0.150 None 1.000 5 1 2010 2019
Entrez Id: 81794
Gene Symbol: ADAMTS10
ADAMTS10
ADAM metallopeptidase with thrombospondin type 1 motif 10 0.641 0.500 0.84
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease 0.110 None 1.000 1 0 2019 2019
Entrez Id: 444
Gene Symbol: ASPH
ASPH
aspartate beta-hydroxylase 0.610 0.615 6.6E-15
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease 0.110 None 1.000 1 0 2014 2014
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
fibrillin 2 0.505 0.808 1.00
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease 0.110 None 1.000 1 0 2013 2013
Entrez Id: 170691
Gene Symbol: ADAMTS17
ADAMTS17
ADAM metallopeptidase with thrombospondin type 1 motif 17 0.678 0.385 2.8E-15
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease 0.110 None 1.000 1 0 2017 2017
Entrez Id: 100289061
Gene Symbol: ADAMTSL4-AS2
ADAMTSL4-AS2
ADAMTSL4 antisense RNA 2 0.890 0.154
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease 0.100 None 1.000 4 3 2010 2017
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease 0.100 None 0 0
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6
beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease 0.100 None 0 0
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
BCL6 corepressor 0.471 0.808 1.00
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease 0.100 None 0 0
Entrez Id: 6821
Gene Symbol: SUOX
SUOX
sulfite oxidase 0.638 0.615 9.4E-07
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease 0.100 None 0 0
Entrez Id: 6890
Gene Symbol: TAP1
TAP1
transporter 1, ATP binding cassette subfamily B member 0.500 0.808 5.3E-06
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease 0.100 None 0 0
Entrez Id: 6891
Gene Symbol: TAP2
TAP2
transporter 2, ATP binding cassette subfamily B member 0.517 0.808 6.9E-11
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease 0.100 None 0 0
Entrez Id: 6892
Gene Symbol: TAPBP
TAPBP
TAP binding protein 0.576 0.769 6.6E-09
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease 0.100 None 0 0
Entrez Id: 80781
Gene Symbol: COL18A1
COL18A1
collagen type XVIII alpha 1 chain 0.449 0.808 1.7E-10
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease 0.100 None 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS
aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease 0.100 None 0 0
Entrez Id: 4693
Gene Symbol: NDP
NDP
norrin cystine knot growth factor NDP 0.566 0.692 0.65
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease 0.100 None 0 0
Entrez Id: 4338
Gene Symbol: MOCS2
MOCS2
molybdenum cofactor synthesis 2 0.729 0.308 4.6E-04
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease 0.100 None 0 0
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
collagen type V alpha 2 chain 0.568 0.731 1.00
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease 0.100 None 0 0
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1
collagen type V alpha 1 chain 0.536 0.769 1.00
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease 0.100 None 0 0
Entrez Id: 2301
Gene Symbol: FOXE3
FOXE3
forkhead box E3 0.568 0.654 0.18
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease 0.100 None 0 0
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease 0.100 None 0 0