Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
P06865 hexosaminidase subunit alpha Enzyme 79 0.633 0.615 1.3E-11 1.000 None 1.000 142 120 1982 2019
Entrez Id: 2760
Gene Symbol: GM2A
GM2A
P17900 GM2 ganglioside activator Transporter 66 0.678 0.692 3.1E-02 0.430 strong 1.000 4 2 2000 2015
Entrez Id: 10724
Gene Symbol: OGA
OGA
O60502 O-GlcNAcase 140 0.534 0.731 0.97 0.100 None 0.981 53 1 1982 2018
Entrez Id: 3087
Gene Symbol: HHEX
HHEX
Q03014 hematopoietically expressed homeobox 73 0.599 0.692 0.54 0.060 None 1.000 6 0 1978 2003
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
P07686 hexosaminidase subunit beta Enzyme 62 0.644 0.654 3.5E-10 0.060 None 1.000 6 1 1997 2012
Entrez Id: 2217
Gene Symbol: FCGRT
FCGRT
P55899 Fc fragment of IgG receptor and transporter 102 0.563 0.654 4.1E-02 0.040 None 1.000 4 0 1987 1995
Entrez Id: 284004
Gene Symbol: HEXD
HEXD
Q8WVB3 hexosaminidase D 12 0.780 0.308 4.3E-11 0.020 None 1.000 2 0 1983 1988
Entrez Id: 10825
Gene Symbol: NEU3
NEU3
Q9UQ49 neuraminidase 3 Enzyme 39 0.666 0.654 2.4E-08 0.020 None 1.000 2 0 2017 2018
Entrez Id: 2629
Gene Symbol: GBA
GBA
P04062 glucosylceramidase beta 319 0.500 0.808 1.4E-06 0.010 None 1.000 1 1 2018 2018
Entrez Id: 443
Gene Symbol: ASPA
ASPA
P45381 aspartoacylase 123 0.564 0.731 4.1E-04 0.010 None 1.000 1 1 2018 2018
Entrez Id: 4884
Gene Symbol: NPTX1
NPTX1
Q15818 neuronal pentraxin 1 26 0.691 0.385 0.63 0.010 None 1.000 1 0 2017 2017
Entrez Id: 51366
Gene Symbol: UBR5
UBR5
O95071 ubiquitin protein ligase E3 component n-recognin 5 73 0.597 0.654 1.00 0.010 None 1.000 1 1 2011 2011
Entrez Id: 5460
Gene Symbol: POU5F1
POU5F1
Q01860 POU class 5 homeobox 1 328 0.441 0.846 0.95 0.010 None 1.000 1 0 2016 2016
Entrez Id: 57556
Gene Symbol: SEMA6A
SEMA6A
Q9H2E6 semaphorin 6A Signaling 211 0.486 0.808 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 642559
Gene Symbol: POU5F1P3
POU5F1P3
POU class 5 homeobox 1 pseudogene 3 285 0.452 0.808 0.010 None 1.000 1 0 2016 2016
Entrez Id: 645682
Gene Symbol: POU5F1P4
POU5F1P4
POU class 5 homeobox 1 pseudogene 4 284 0.452 0.808 0.010 None 1.000 1 0 2016 2016
Entrez Id: 410
Gene Symbol: ARSA
ARSA
P15289 arylsulfatase A Enzyme 376 0.448 0.923 1.1E-11 0.010 None 1.000 1 0 2004 2004
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
Q13753 laminin subunit gamma 2 Enzyme modulator 602 0.389 0.923 2.9E-12 0.010 None 1.000 1 0 2019 2019
Entrez Id: 3916
Gene Symbol: LAMP1
LAMP1
P11279 lysosomal associated membrane protein 1 Transporter 120 0.542 0.769 0.87 0.010 None 1.000 1 0 2019 2019
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
P35858 insulin like growth factor binding protein acid labile subunit Receptor 203 0.511 0.846 5.4E-11 0.010 None 1.000 1 0 2001 2001
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
P04141 colony stimulating factor 2 Signaling 1028 0.330 0.962 0.83 0.010 None 1.000 1 0 2019 2019
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
P35555 fibrillin 1 Calcium-binding protein 552 0.417 0.846 1.00 0.010 None 1.000 1 0 1975 1975
Entrez Id: 2896
Gene Symbol: GRN
GRN
P28799 granulin precursor 412 0.435 0.846 7.0E-02 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
P16278 galactosidase beta 1 Enzyme 385 0.448 0.808 7.9E-10 0.010 None 1.000 1 0 2004 2004
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
P29033 gap junction protein beta 2 Cell-cell junction 392 0.441 0.846 6.6E-16 0.010 None 1.000 1 0 2005 2005