Source: BEFREE

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: 1593
Gene Symbol: CYP27A1
CYP27A1
cytochrome P450 family 27 subfamily A member 1 0.538 0.731 5.3E-19
CUI: C0267971
Disease: Storage disease
Storage disease
group 0.030 None 1.000 3 0 1992 1994
Entrez Id: 7038
Gene Symbol: TG
TG
thyroglobulin 0.480 0.808 2.9E-59
CUI: C0267971
Disease: Storage disease
Storage disease
group 0.030 None 1.000 3 0 1996 2009
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C0267971
Disease: Storage disease
Storage disease
group 0.020 None 1.000 2 0 2004 2008
Entrez Id: 175
Gene Symbol: AGA
AGA
aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C0267971
Disease: Storage disease
Storage disease
group 0.020 None 1.000 2 0 1993 1994
Entrez Id: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.537 0.769 1.00
CUI: C0267971
Disease: Storage disease
Storage disease
group 0.020 None 1.000 2 0 2010 2012
Entrez Id: 10724
Gene Symbol: OGA
OGA
O-GlcNAcase 0.534 0.731 0.97
CUI: C0267971
Disease: Storage disease
Storage disease
group 0.010 None 1.000 1 0 2009 2009
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
glucosylceramidase beta 2 0.636 0.654 2.0E-20
CUI: C0267971
Disease: Storage disease
Storage disease
group 0.010 None 1.000 1 0 2013 2013
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
presenilin 1 0.469 0.846 0.97
CUI: C0267971
Disease: Storage disease
Storage disease
group 0.010 None 1.000 1 0 2007 2007
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
prion protein 0.445 0.923 6.3E-04
CUI: C0267971
Disease: Storage disease
Storage disease
group 0.010 None 1.000 1 0 1997 1997
Entrez Id: 64240
Gene Symbol: ABCG5
ABCG5
ATP binding cassette subfamily G member 5 0.592 0.577 3.1E-21
CUI: C0267971
Disease: Storage disease
Storage disease
group 0.010 None 1.000 1 0 2010 2010
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
ATP binding cassette subfamily G member 8 0.573 0.538 2.4E-20
CUI: C0267971
Disease: Storage disease
Storage disease
group 0.010 None 1.000 1 0 2015 2015
Entrez Id: 6476
Gene Symbol: SI
SI
sucrase-isomaltase 0.569 0.692 3.9E-60
CUI: C0267971
Disease: Storage disease
Storage disease
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 7276
Gene Symbol: TTR
TTR
transthyretin 0.423 0.885 0.52
CUI: C0267971
Disease: Storage disease
Storage disease
group 0.010 None 1.000 1 0 1989 1989
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
uromodulin 0.520 0.846 3.1E-17
CUI: C0267971
Disease: Storage disease
Storage disease
group 0.010 None 1.000 1 0 2019 2019
Entrez Id: 8972
Gene Symbol: MGAM
MGAM
maltase-glucoamylase 0.592 0.615 1.0E-35
CUI: C0267971
Disease: Storage disease
Storage disease
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5476
Gene Symbol: CTSA
CTSA
cathepsin A 0.619 0.731 5.9E-09
CUI: C0267971
Disease: Storage disease
Storage disease
group 0.010 None 1.000 1 0 2010 2010
Entrez Id: 53632
Gene Symbol: PRKAG3
PRKAG3
protein kinase AMP-activated non-catalytic subunit gamma 3 0.792 0.308 4.6E-12
CUI: C0267971
Disease: Storage disease
Storage disease
group 0.010 None < 0.001 1 0 2003 2003
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CLN3 lysosomal/endosomal transmembrane protein, battenin 0.572 0.692 1.3E-07
CUI: C0267971
Disease: Storage disease
Storage disease
group 0.010 None 1.000 1 0 1999 1999
Entrez Id: 149175
Gene Symbol: MANEAL
MANEAL
mannosidase endo-alpha like 4.9E-03
CUI: C0267971
Disease: Storage disease
Storage disease
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2266
Gene Symbol: FGG
FGG
fibrinogen gamma chain 0.633 0.615 5.0E-02
CUI: C0267971
Disease: Storage disease
Storage disease
group 0.010 None 1.000 1 1 2015 2015
Entrez Id: 2799
Gene Symbol: GNS
GNS
glucosamine (N-acetyl)-6-sulfatase 0.705 0.538 5.6E-04
CUI: C0267971
Disease: Storage disease
Storage disease
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
glucuronidase beta 0.530 0.846 4.0E-08
CUI: C0267971
Disease: Storage disease
Storage disease
group 0.010 None 1.000 1 0 1990 1990
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
hexosaminidase subunit beta 0.644 0.654 3.5E-10
CUI: C0267971
Disease: Storage disease
Storage disease
group 0.010 None 1.000 1 0 2009 2009
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
alpha-L-iduronidase 0.499 0.846 3.8E-13
CUI: C0267971
Disease: Storage disease
Storage disease
group 0.010 None 1.000 1 0 2011 2011
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
lipase A, lysosomal acid type 0.564 0.654 5.5E-07
CUI: C0267971
Disease: Storage disease
Storage disease
group 0.010 None 1.000 1 0 2013 2013