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: 157680
Gene Symbol: VPS13B
VPS13B
vacuolar protein sorting 13 homolog B 0.579 0.769 2.5E-45
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
wolframin ER transmembrane glycoprotein 0.528 0.846 1.6E-38
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 1
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
cholinergic receptor nicotinic gamma subunit 0.573 0.692 3.3E-19
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 23514
Gene Symbol: SPIDR
SPIDR
scaffold protein involved in DNA repair 0.700 0.538 2.4E-17
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
patched 2 0.563 0.692 3.4E-16
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 0.579 0.731 1.5E-15
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD
peptidase D 0.621 0.769 1.5E-14
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 2006
Gene Symbol: ELN
ELN
elastin 0.415 0.885 2.1E-14
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94
transmembrane protein 94 0.628 0.654 2.8E-14
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 2
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
myosin light chain kinase 0.510 0.846 9.2E-12
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
follicle stimulating hormone receptor 0.539 0.654 1.4E-11
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 421
Gene Symbol: ARVCF
ARVCF
ARVCF delta catenin family member 0.540 0.769 5.0E-11
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 5447
Gene Symbol: POR
POR
cytochrome p450 oxidoreductase 0.502 0.769 3.4E-10
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 11107
Gene Symbol: PRDM5
PRDM5
PR/SET domain 5 0.621 0.654 3.6E-10
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 57122
Gene Symbol: NUP107
NUP107
nucleoporin 107 0.595 0.500 2.6E-09
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
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: C0003706
Disease: Arachnodactyly
Arachnodactyly
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: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 55644
Gene Symbol: OSGEP
OSGEP
O-sialoglycoprotein endopeptidase 0.626 0.615 7.1E-08
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
cathepsin C 0.541 0.731 1.1E-07
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
OTU deubiquitinase 6B 0.659 0.538 1.3E-07
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
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: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 1312
Gene Symbol: COMT
COMT
catechol-O-methyltransferase 0.400 0.923 1.1E-06
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 29920
Gene Symbol: PYCR2
PYCR2
pyrroline-5-carboxylate reductase 2 0.682 0.462 2.1E-06
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease 0.100 None 0 2