Process View
0 genes annotated in mouse
DOID:3211
An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
In addition to gene-name show these genes:
Disease predictions are made from cross-annotation of human disease genes to the identified functional analogs in mouse and predicted with the mouse functional network.
Name | Description | Probability | Func Analog Organism | |
---|---|---|---|---|
Ctsb | cathepsin B | 0.993 | ||
Lamp1 | lysosomal-associated membrane protein 1 | 0.984 | ||
Hexa | hexosaminidase A | 0.983 | Human | |
Gns | glucosamine (N-acetyl)-6-sulfatase | 0.969 | Human | |
Hexb | hexosaminidase B | 0.966 | Human | |
0610031J06Rik | RIKEN cDNA 0610031J06 gene | 0.958 | ||
Npc2 | Niemann Pick type C2 | 0.878 | Human | |
Dpp7 | dipeptidylpeptidase 7 | 0.849 | ||
Idua | iduronidase, alpha-L- | 0.839 | ||
Grn | granulin | 0.837 | Human | |
Psap | prosaposin | 0.832 | Human | |
Lgmn | legumain | 0.827 | ||
Ctsd | cathepsin D | 0.820 | Human | |
Ctsa | cathepsin A | 0.786 | ||
Gba | glucosidase, beta, acid | 0.777 | Human | |
Tpp1 | tripeptidyl peptidase I | 0.700 | Human | |
Asah1 | N-acylsphingosine amidohydrolase 1 | 0.666 | Human | |
Itm2b | integral membrane protein 2B | 0.613 | ||
Coro1b | coronin, actin binding protein 1B | 0.502 | ||
Atp6ap1 | ATPase, H+ transporting, lysosomal accessory protein 1 | 0.480 | ||
Ctsz | cathepsin Z | 0.457 | ||
Pld3 | phospholipase D family, member 3 | 0.442 | ||
Lepr | leptin receptor | 0.401 | ||
Mfsd1 | major facilitator superfamily domain containing 1 | 0.352 | ||
Man2b1 | mannosidase 2, alpha B1 | 0.345 | Human | |
Tcn2 | transcobalamin 2 | 0.324 | ||
Itm2c | integral membrane protein 2C | 0.281 | ||
Lamp2 | lysosomal-associated membrane protein 2 | 0.266 | Human | |
Rragc | Ras-related GTP binding C | 0.237 | ||
Naga | N-acetyl galactosaminidase, alpha | 0.225 | ||
Atp6v0d1 | ATPase, H+ transporting, lysosomal V0 subunit D1 | 0.208 | ||
Gusb | glucuronidase, beta | 0.195 | ||
Abca1 | ATP-binding cassette, sub-family A (ABC1), member 1 | 0.170 | ||
Lrp1 | low density lipoprotein receptor-related protein 1 | 0.159 | ||
Naglu | alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB) | 0.146 | ||
Atp6ap2 | ATPase, H+ transporting, lysosomal accessory protein 2 | 0.145 | ||
Pold4 | polymerase (DNA-directed), delta 4 | 0.145 | ||
Manba | mannosidase, beta A, lysosomal | 0.144 | ||
Dscr3 | Down syndrome critical region gene 3 | 0.133 | ||
Scarb2 | scavenger receptor class B, member 2 | 0.131 | ||
Ghr | growth hormone receptor | 0.121 | ||
Atp6v0b | ATPase, H+ transporting, lysosomal V0 subunit B | 0.121 | ||
Prnp | prion protein | 0.118 | ||
Sumf1 | sulfatase modifying factor 1 | 0.116 | Human | |
Lyz2 | lysozyme 2 | 0.111 | ||
Shisa5 | shisa homolog 5 (Xenopus laevis) | 0.110 | ||
Soat1 | sterol O-acyltransferase 1 | 0.100 | ||
Ctsh | cathepsin H | 0.099 | ||
Scpep1 | serine carboxypeptidase 1 | 0.090 | ||
Apoe | apolipoprotein E | 0.083 | Human | |
Kiss1 | KiSS-1 metastasis-suppressor | 0.077 | ||
Fuca1 | fucosidase, alpha-L- 1, tissue | 0.073 | Human | |
Itgb5 | integrin beta 5 | 0.073 | ||
Abcg1 | ATP-binding cassette, sub-family G (WHITE), member 1 | 0.070 | ||
Myo7a | myosin VIIA | 0.065 | ||
Gaa | glucosidase, alpha, acid | 0.061 | ||
Lipa | lysosomal acid lipase A | 0.061 | ||
Hgsnat | heparan-alpha-glucosaminide N-acetyltransferase | 0.061 | ||
2010106G01Rik | RIKEN cDNA 2010106G01 gene | 0.060 | ||
Rnh1 | ribonuclease/angiogenin inhibitor 1 | 0.060 | ||
Cst3 | cystatin C | 0.059 | ||
Leprot | leptin receptor overlapping transcript | 0.057 | ||
Kif3b | kinesin family member 3B | 0.054 | ||
Hsd3b7 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | 0.050 | ||
Clcn5 | chloride channel 5 | 0.049 | ||
Npc1 | Niemann Pick type C1 | 0.047 | Human | |
Glb1 | galactosidase, beta 1 | 0.047 | Human | |
Pttg1ip | pituitary tumor-transforming 1 interacting protein | 0.047 | ||
Nucb1 | nucleobindin 1 | 0.047 | ||
Gpr116 | G protein-coupled receptor 116 | 0.046 | ||
Gm2a | GM2 ganglioside activator protein | 0.043 | Human | |
Creg1 | cellular repressor of E1A-stimulated genes 1 | 0.040 | ||
Ctsl | cathepsin L | 0.038 | ||
Vkorc1 | vitamin K epoxide reductase complex, subunit 1 | 0.038 | ||
Kdelr1 | KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 | 0.036 | ||
Pten | phosphatase and tensin homolog | 0.034 | ||
C1qa | complement component 1, q subcomponent, alpha polypeptide | 0.034 | ||
Uap1l1 | UDP-N-acteylglucosamine pyrophosphorylase 1-like 1 | 0.034 | ||
Aga | aspartylglucosaminidase | 0.034 | ||
Cstb | cystatin B | 0.033 | ||
Cdipt | CDP-diacylglycerol--inositol 3-phosphatidyltransferase (phosphatidylinositol synthase) | 0.033 | ||
Rnase4 | ribonuclease, RNase A family 4 | 0.031 | ||
Scd1 | stearoyl-Coenzyme A desaturase 1 | 0.031 | ||
Adam9 | a disintegrin and metallopeptidase domain 9 (meltrin gamma) | 0.031 | ||
Anxa5 | annexin A5 | 0.030 | ||
Lrpap1 | low density lipoprotein receptor-related protein associated protein 1 | 0.029 | ||
Tyrobp | TYRO protein tyrosine kinase binding protein | 0.029 | ||
Ppt1 | palmitoyl-protein thioesterase 1 | 0.029 | ||
Tmem176b | transmembrane protein 176B | 0.028 | ||
Vamp8 | vesicle-associated membrane protein 8 | 0.027 | ||
Sat1 | spermidine/spermine N1-acetyl transferase 1 | 0.027 | ||
App | amyloid beta (A4) precursor protein | 0.026 | ||
Cndp2 | CNDP dipeptidase 2 (metallopeptidase M20 family) | 0.026 | ||
Ldlr | low density lipoprotein receptor | 0.026 | ||
Fcer1g | Fc receptor, IgE, high affinity I, gamma polypeptide | 0.026 | ||
Rab7l1 | RAB7, member RAS oncogene family-like 1 | 0.026 | ||
Klraq1 | KLRAQ motif containing 1 | 0.025 | ||
Glg1 | golgi apparatus protein 1 | 0.025 | ||
Arsa | arylsulfatase A | 0.024 | ||
Cyba | cytochrome b-245, alpha polypeptide | 0.024 | ||
Txndc16 | thioredoxin domain containing 16 | 0.024 | ||
Mecp2 | methyl CpG binding protein 2 | 0.024 | ||
Anxa4 | annexin A4 | 0.023 | ||
Iah1 | isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae) | 0.023 | ||
Renbp | renin binding protein | 0.023 | ||
Sepp1 | selenoprotein P, plasma, 1 | 0.022 | ||
Pltp | phospholipid transfer protein | 0.022 | ||
Degs1 | degenerative spermatocyte homolog 1 (Drosophila) | 0.022 | ||
C1qc | complement component 1, q subcomponent, C chain | 0.022 | ||
Csf1r | colony stimulating factor 1 receptor | 0.022 | ||
Abhd12 | abhydrolase domain containing 12 | 0.022 | ||
Gpr137b | G protein-coupled receptor 137B | 0.022 | ||
Atp6v0e | ATPase, H+ transporting, lysosomal V0 subunit E | 0.022 | ||
Man2a1 | mannosidase 2, alpha 1 | 0.022 | ||
Hsd17b11 | hydroxysteroid (17-beta) dehydrogenase 11 | 0.022 | ||
Btd | biotinidase | 0.022 | ||
Tmub2 | transmembrane and ubiquitin-like domain containing 2 | 0.021 | ||
Tmem176a | transmembrane protein 176A | 0.021 | ||
Irs2 | insulin receptor substrate 2 | 0.021 | ||
Sgpl1 | sphingosine phosphate lyase 1 | 0.021 | ||
1110003E01Rik | RIKEN cDNA 1110003E01 gene | 0.020 | ||
Cd68 | CD68 antigen | 0.020 | ||
Pla2g15 | phospholipase A2, group XV | 0.020 | ||
Plin2 | perilipin 2 | 0.020 | ||
P2rx4 | purinergic receptor P2X, ligand-gated ion channel 4 | 0.019 | ||
Dscaml1 | Down syndrome cell adhesion molecule-like 1 | 0.019 | ||
Cyp4v3 | cytochrome P450, family 4, subfamily v, polypeptide 3 | 0.019 | ||
Atp7a | ATPase, Cu++ transporting, alpha polypeptide | 0.019 | ||
Foxo3 | forkhead box O3 | 0.019 | ||
Ifngr1 | interferon gamma receptor 1 | 0.019 | ||
Pros1 | protein S (alpha) | 0.019 | ||
Tmbim6 | transmembrane BAX inhibitor motif containing 6 | 0.018 | ||
Tmem19 | transmembrane protein 19 | 0.018 | ||
Stx7 | syntaxin 7 | 0.018 | ||
Dap | death-associated protein | 0.018 | ||
Tmed10 | transmembrane emp24-like trafficking protein 10 (yeast) | 0.018 | ||
Mertk | c-mer proto-oncogene tyrosine kinase | 0.018 | ||
Itfg3 | integrin alpha FG-GAP repeat containing 3 | 0.018 | ||
Elovl1 | elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1 | 0.017 | ||
Vhl | von Hippel-Lindau tumor suppressor | 0.017 | ||
Sh3bgrl3 | SH3 domain binding glutamic acid-rich protein-like 3 | 0.017 | ||
Tm7sf3 | transmembrane 7 superfamily member 3 | 0.017 | ||
Dicer1 | Dicer1, Dcr-1 homolog (Drosophila) | 0.017 | ||
Cpt1a | carnitine palmitoyltransferase 1a, liver | 0.017 | ||
Nhlrc3 | NHL repeat containing 3 | 0.017 | ||
Usp12 | ubiquitin specific peptidase 12 | 0.017 | ||
Cdkn1b | cyclin-dependent kinase inhibitor 1B | 0.016 | ||
Ndfip1 | Nedd4 family interacting protein 1 | 0.016 | ||
Braf | Braf transforming gene | 0.016 | ||
Daglb | diacylglycerol lipase, beta | 0.016 | ||
Acp2 | acid phosphatase 2, lysosomal | 0.016 | ||
Ostm1 | osteopetrosis associated transmembrane protein 1 | 0.016 | ||
Stx4a | syntaxin 4A (placental) | 0.016 | ||
Arf3 | ADP-ribosylation factor 3 | 0.015 | ||
Capns1 | calpain, small subunit 1 | 0.015 | ||
Tmem9b | TMEM9 domain family, member B | 0.015 | ||
Abcd1 | ATP-binding cassette, sub-family D (ALD), member 1 | 0.015 | ||
Apc | adenomatosis polyposis coli | 0.015 | ||
Aplp2 | amyloid beta (A4) precursor-like protein 2 | 0.015 | ||
Tmem50a | transmembrane protein 50A | 0.015 | ||
Pcyox1 | prenylcysteine oxidase 1 | 0.015 | ||
Siae | sialic acid acetylesterase | 0.015 | ||
Tmem111 | transmembrane protein 111 | 0.015 | ||
Akr1a4 | aldo-keto reductase family 1, member A4 (aldehyde reductase) | 0.015 | ||
Mfge8 | milk fat globule-EGF factor 8 protein | 0.014 | ||
C1qb | complement component 1, q subcomponent, beta polypeptide | 0.014 | ||
Ern1 | endoplasmic reticulum (ER) to nucleus signalling 1 | 0.014 | ||
Abhd4 | abhydrolase domain containing 4 | 0.014 | ||
4930471M23Rik | RIKEN cDNA 4930471M23 gene | 0.014 | ||
Scamp2 | secretory carrier membrane protein 2 | 0.013 | ||
2310044H10Rik | RIKEN cDNA 2310044H10 gene | 0.013 | ||
Tk2 | thymidine kinase 2, mitochondrial | 0.013 | ||
Tsc1 | tuberous sclerosis 1 | 0.013 | ||
Lass2 | LAG1 homolog, ceramide synthase 2 | 0.013 | ||
Serpinb6a | serine (or cysteine) peptidase inhibitor, clade B, member 6a | 0.013 | ||
Prkar2a | protein kinase, cAMP dependent regulatory, type II alpha | 0.013 | ||
Fkbp15 | FK506 binding protein 15 | 0.013 | ||
Clta | clathrin, light polypeptide (Lca) | 0.013 | ||
Cmtm6 | CKLF-like MARVEL transmembrane domain containing 6 | 0.013 | ||
Cln5 | ceroid-lipofuscinosis, neuronal 5 | 0.013 | ||
0610007C21Rik | RIKEN cDNA 0610007C21 gene | 0.013 | ||
Atp6v0c | ATPase, H+ transporting, lysosomal V0 subunit C | 0.013 | ||
D6Wsu116e | DNA segment, Chr 6, Wayne State University 116, expressed | 0.013 | ||
Vps41 | vacuolar protein sorting 41 (yeast) | 0.013 | ||
Ftl1 | ferritin light chain 1 | 0.013 | ||
Ergic3 | ERGIC and golgi 3 | 0.013 | ||
Fcgr2b | Fc receptor, IgG, low affinity IIb | 0.012 | ||
Man2b2 | mannosidase 2, alpha B2 | 0.012 | ||
Galc | galactosylceramidase | 0.012 | ||
Ccpg1 | cell cycle progression 1 | 0.012 | ||
C3 | complement component 3 | 0.012 | ||
Cebpa | CCAAT/enhancer binding protein (C/EBP), alpha | 0.012 | ||
Ntrk2 | neurotrophic tyrosine kinase, receptor, type 2 | 0.012 | ||
Ctss | cathepsin S | 0.012 | ||
Rnaset2a | ribonuclease T2A | 0.012 | ||
Mid1 | midline 1 | 0.012 | ||
Gabarap | gamma-aminobutyric acid receptor associated protein | 0.012 | ||
Ncoa2 | nuclear receptor coactivator 2 | 0.012 | ||
Grina | glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) | 0.012 | ||
Pqlc3 | PQ loop repeat containing | 0.012 | ||
Cyfip1 | cytoplasmic FMR1 interacting protein 1 | 0.012 | ||
Zfp398 | zinc finger protein 398 | 0.012 | ||
Eps8 | epidermal growth factor receptor pathway substrate 8 | 0.012 | ||
Sdf2 | stromal cell derived factor 2 | 0.011 | ||
Dnase1l1 | deoxyribonuclease 1-like 1 | 0.011 | ||
Cdkn1a | cyclin-dependent kinase inhibitor 1A (P21) | 0.011 | ||
Yipf3 | Yip1 domain family, member 3 | 0.011 | ||
Slc9a3r1 | solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 | 0.011 | ||
Tex264 | testis expressed gene 264 | 0.011 | ||
Fcgrt | Fc receptor, IgG, alpha chain transporter | 0.011 | ||
Slc38a6 | solute carrier family 38, member 6 | 0.011 | ||
Wdr81 | WD repeat domain 81 | 0.011 | ||
Adam17 | a disintegrin and metallopeptidase domain 17 | 0.011 | ||
Tspyl1 | testis-specific protein, Y-encoded-like 1 | 0.011 | ||
Fam63a | family with sequence similarity 63, member A | 0.011 | ||
Slc30a7 | solute carrier family 30 (zinc transporter), member 7 | 0.011 | ||
Angptl4 | angiopoietin-like 4 | 0.011 | ||
Sgpp1 | sphingosine-1-phosphate phosphatase 1 | 0.011 | ||
Mcfd2 | multiple coagulation factor deficiency 2 | 0.011 | ||
Scarb1 | scavenger receptor class B, member 1 | 0.010 | ||
Sdcbp | syndecan binding protein | 0.010 | ||
Nagk | N-acetylglucosamine kinase | 0.010 | ||
Smpdl3a | sphingomyelin phosphodiesterase, acid-like 3A | 0.010 | ||
Slc24a6 | solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 | 0.010 | ||
Ctns | cystinosis, nephropathic | 0.010 | ||
Ssfa2 | sperm specific antigen 2 | 0.010 | ||
Gnptab | N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits | 0.010 | ||
Syap1 | synapse associated protein 1 | 0.010 | ||
Snx27 | sorting nexin family member 27 | 0.010 | ||
Man1a | mannosidase 1, alpha | 0.010 | ||
Plbd2 | phospholipase B domain containing 2 | 0.010 | ||
Hebp1 | heme binding protein 1 | 0.010 | ||
Rasgrp1 | RAS guanyl releasing protein 1 | 0.010 | ||
Nucb2 | nucleobindin 2 | 0.010 | ||
Rnf103 | ring finger protein 103 | 0.010 | ||
Tep1 | telomerase associated protein 1 | 0.010 |