Approved Symbol |
Approved Name |
Location |
Source |
NPC1 |
Niemann-Pick disease, type C1 |
18q11-q12 |
Mapped by significant region |
SMPD1 |
sphingomyelin phosphodiesterase 1, acid lysosomal |
11p15.4-p15.1 |
Mapped by CNV; Mapped by PBA pathway |
SUMF1 |
sulfatase modifying factor 1 |
3p26.1 |
Mapped by CNV |
TPP1 |
tripeptidyl peptidase I |
11p15.4 |
Mapped by CNV |
AP3B2 |
adaptor-related protein complex 3, beta 2 subunit |
15q |
Mapped by PBA pathway |
CLTCL1 |
clathrin, heavy chain-like 1 |
22q11.2 |
Mapped by CNV |
GGA2 |
golgi-associated, gamma adaptin ear containing, ARF binding protein 2 |
16p12 |
Mapped by significant region |
AP4S1 |
adaptor-related protein complex 4, sigma 1 subunit |
14q12 |
Mapped by significant region |
SLC11A1 |
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 |
2q35 |
Mapped by significant region |
CTSC |
cathepsin C |
11q14.2 |
Mapped by significant region |
CTSF |
cathepsin F |
11q13.2 |
Mapped by significant region |
CTSG |
cathepsin G |
14q12 |
Mapped by significant region |
CTSL2 |
cathepsin L2 |
9q22.33 |
Mapped by significant region |
SORT1 |
sortilin 1 |
1p13.3 |
Mapped by CNV |
TCIRG1 |
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 |
11q13.2 |
Mapped by significant region |
CTSW |
cathepsin W |
11q13.1 |
Mapped by significant region |
ATP6V0A2 |
ATPase, H+ transporting, lysosomal V0 subunit a2 |
12q24.31 |
Mapped by CNV |
GALNS |
galactosamine (N-acetyl)-6-sulfate sulfatase |
16q24.3 |
Mapped by significant region |
ATP6V0D2 |
ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 |
8q21.3 |
Mapped by CNV |