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: 2630
Gene Symbol: GBAP1
GBAP1
glucosylceramidase beta pseudogene 1 64 0.623 0.538 0.100 None 0.909 11 0 1983 2014
Entrez Id: 283120
Gene Symbol: H19
H19
H19 imprinted maternally expressed transcript 242 0.494 0.923 0.020 None 1.000 2 0 1992 2008
Entrez Id: 388743
Gene Symbol: CAPN8
CAPN8
A6NHC0 calpain 8 5 0.861 0.192 1.3E-13 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4126
Gene Symbol: MANBA
MANBA
O00462 mannosidase beta Enzyme 38 0.736 0.462 1.3E-18 0.030 None 1.000 3 0 2002 2015
Entrez Id: 4125
Gene Symbol: MAN2B1
MAN2B1
O00754 mannosidase alpha class 2B member 1 66 0.674 0.462 4.8E-22 0.060 None 1.000 6 0 1997 2019
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
O14773 tripeptidyl peptidase 1 Enzyme 151 0.551 0.808 6.3E-07 0.040 None 1.000 4 0 1999 2019
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
O15118 NPC intracellular cholesterol transporter 1 Transporter 220 0.518 0.692 6.5E-06 0.100 None 1.000 14 0 2010 2020
Entrez Id: 285
Gene Symbol: ANGPT2
ANGPT2
O15123 angiopoietin 2 Signaling 457 0.410 0.846 0.83 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
O15553 MEFV innate immuity regulator, pyrin 410 0.440 0.885 1.0E-14 0.010 None 1.000 1 0 2019 2019
Entrez Id: 8972
Gene Symbol: MGAM
MGAM
O43451 maltase-glucoamylase Enzyme 95 0.592 0.615 1.0E-35 0.100 None 1.000 10 0 1995 2019
Entrez Id: 10085
Gene Symbol: EDIL3
EDIL3
O43854 EGF like repeats and discoidin domains 3 Enzyme 104 0.564 0.769 1.5E-04 0.010 None 1.000 1 0 2011 2011
Entrez Id: 665
Gene Symbol: BNIP3L
BNIP3L
O60238 BCL2 interacting protein 3 like 63 0.636 0.654 0.15 0.010 None 1.000 1 0 2018 2018
Entrez Id: 10724
Gene Symbol: OGA
OGA
O60502 O-GlcNAcase 140 0.534 0.731 0.97 0.100 None 1.000 10 0 1977 2016
Entrez Id: 1497
Gene Symbol: CTNS
CTNS
O60931 cystinosin, lysosomal cystine transporter 88 0.628 0.538 3.1E-04 0.080 None 0.750 8 0 2001 2019
Entrez Id: 174
Gene Symbol: AFP
AFP
P02771 alpha fetoprotein Transporter 392 0.429 0.885 1.1E-11 0.010 None < 0.001 1 0 1985 1985
Entrez Id: 2629
Gene Symbol: GBA
GBA
P04062 glucosylceramidase beta 319 0.500 0.808 1.4E-06 0.100 None 0.971 35 2 1983 2019
Entrez Id: 2517
Gene Symbol: FUCA1
FUCA1
P04066 alpha-L-fucosidase 1 103 0.623 0.577 2.7E-08 0.010 None 1.000 1 0 2007 2007
Entrez Id: 7157
Gene Symbol: TP53
TP53
P04637 tumor protein p53 Transcription factor 2494 0.236 0.962 0.53 0.010 None 1.000 1 0 2002 2002
Entrez Id: 351
Gene Symbol: APP
APP
P05067 amyloid beta precursor protein Enzyme modulator 485 0.422 0.846 4.7E-02 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2717
Gene Symbol: GLA
GLA
P06280 galactosidase alpha 190 0.537 0.769 1.00 0.100 None 1.000 59 3 1996 2020
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
P06865 hexosaminidase subunit alpha Enzyme 79 0.633 0.615 1.3E-11 0.040 None 1.000 4 0 2004 2019
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
P07339 cathepsin D Enzyme 242 0.478 0.846 9.2E-04 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5660
Gene Symbol: PSAP
PSAP
P07602 prosaposin 189 0.532 0.846 0.99 0.040 None 1.000 4 0 2003 2017
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
P07686 hexosaminidase subunit beta Enzyme 62 0.644 0.654 3.5E-10 0.010 None 1.000 1 0 2004 2004
Entrez Id: 1508
Gene Symbol: CTSB
CTSB
P07858 cathepsin B Enzyme 304 0.457 0.846 5.9E-11 0.030 None 1.000 3 0 2000 2019