Location |
Symbol |
Title |
MIM # |
Disorder |
Comments |
Method |
Mouse |
18p |
USP14, TGT |
Ubiquitin-specific protease 14 |
607274 |
|
|
R, REc |
18(Usp14, ax) |
18q |
DEL18q |
Chromosome 18q deletion syndrome |
601808 |
Chromosome 18q deletion syndrome (4) |
|
DS |
|
18q |
OHDS |
Orthostatic hypotensive disorder of Streeten |
143850 |
Orthostatic hypotensive disorder of Streeten (2) |
|
Fd |
|
18q |
RPL17 |
Ribosomal protein L17 |
603661 |
|
|
REa, R |
|
18q11 |
B4GALT6 |
Beta-1,4-galactosyntransferase 6 |
604017 |
|
|
TM |
|
18q11 |
TW |
Twirler, mouse, homolog of |
601332 |
|
|
Psh, Fd |
18(Tw) |
18q11-q12 |
NPC1, NPC |
NPC1 gene |
607623 |
Niemann-Pick disease, type C1, 257220 (3); Niemann-Pick disease,type D, 257220 (3) |
some families not linked to 18; type D prob. allelic |
Ch, H, Fd, M |
18(spm) |
18q11-q12 |
OSBPL1A, ORP1 |
Oxysterol-binding protein-like protein 1A |
606730 |
|
|
R, REc |
|
18q11-q12 |
SLC14A1, JK, UTE, UT1 |
Solute carrier family 14 (urea transporter), member 1 (Kidd blood group) |
111000 |
[Urea transport defect, compensated] (1); [Blood group, Kidd] (3) |
previous suggestion of chr.7 or chr.2 |
Fd, EM, A |
|
18q11.1 |
ABHD3, LABH3 |
Abhydrolase domain-containing 3 |
612197 |
|
|
R, REc |
|
18q11.1 |
ROCK1 |
RHO-associated coiled-coil-containing protein kinase 1 |
601702 |
|
|
R, REc |
|
18q11.1-q11.2 |
GATA6 |
GATA-binding protein-6 |
601656 |
|
|
A |
|
18q11.2 |
CDH2, NCAD |
Cadherin 2 (cadherin, neuronal type; N-cadherin) |
114020 |
|
|
REa, A |
18(Ncad) |
18q11.2 |
ESCO1, ECO1, CTF, ESO1, EFO1, KIAA1911 |
Establishment of cohesion 1, S. cerevisiae, homolog of, 1 |
609674 |
|
|
REc |
|
18q11.2 |
HRH4, HH4R |
Histamine receptor H4 |
606792 |
|
|
REc, R |
|
18q11.2 |
LAMA3, LOCS |
Laminin, alpha-3 (nicein, 150kD; kalinin, 165kD; BM600, 150kD; epilegrin) |
600805 |
Epidermolysis bullosa, junctional, Herlitz type, 226700 (3);Epidermolysis bullosa, generalized atrophic benign, 226650 (3); Laryngoonychocutaneous syndrome, 245660 (3) |
|
A |
|
18q11.2 |
RBBP8, RIM |
Retinoblastoma-binding protein 8 |
604124 |
Pancreatic carcinoma, somatic (3) |
|
A |
|
18q11.2 |
SS18, SSXT, SYT |
Synovial sarcoma translocation, chromosome 18 |
600192 |
Sarcoma, synovial (1) |
5' SYST/3' SSRC in t(X;18) |
Ch, RE |
|
18q11.2 |
SUDD |
sudD, Aspergillus nidulans, homolog of |
603579 |
|
|
A, REc, Psh |
|
18q11.2 |
ZNF521, EHZF, EVI3 |
Zinc finger protein 521 |
610974 |
|
|
REc |
|
18q11.2-q12.1 |
AQP4, MIWC |
Aquaporin-4 |
600308 |
|
|
A, Psh |
18(Aqp4) |