| Location |
Symbol |
Title |
MIM # |
Disorder |
Comments |
Method |
Mouse |
| 5q13.3 |
RASA1, GAP, CMAVM, PKWS |
RAS p21 protein activator 1 (GTPase activating protein) |
139150 |
Parkes Weber slndrome, 608355 (3); Capillarymalformation-arteriovenous malformation, 608354 (3); Basal cell carcinoma, somatic, 605462 (3) |
|
REa, A |
13(Gap) |
| 5q13.3 |
S100Z |
S100 calcium-binding protein, zeta |
610103 |
|
|
REc |
|
| 5q13.3 |
SSBP2 |
Single-stranded DNA-binding protein 2 |
607389 |
|
|
REc |
|
| 5q13.3 |
TINP1, NSA2, HUSSY29 |
Transforming growth factor-beta-inducible nuclear protein 1 |
612497 |
|
|
REc |
|
| 5q13.3-q14 |
CCNH, CAK |
Cyclin H |
601953 |
|
|
REa, A, REc |
|
| 5q13.3-q14 |
HMGCR, LDLCQ3 |
3-hydroxy-3-methylglutaryl-Coenzyme A reductase; HMG CoA reductase |
142910 |
[Statins, attenuated cholesterol lowering by] (3); [Low densitylipoprotein cholesterol level QTL 3] (3) |
|
REa, A |
13(Hmgcr) |
| 5q13.3-q14.1 |
ADSD |
Striatal degeneration, autosomal dominant |
609161 |
Striatal degeneration, autosomal dominant (2) |
max lod at D5S1962 |
Fd |
|
| 5q13.3-q14.1 |
SCAMP1, SCAMP37 |
Secretory carrier membrane protein 1 |
606911 |
|
|
R |
|
| 5q14 |
COX7C |
Cytochrome C oxidase, subunit VII C |
603774 |
|
pseudogene on 13q14-q21 |
A, R |
|
| 5q14 |
GLRX, GRX |
Glutaredoxin (thioltransferase) |
600443 |
|
|
REa, A |
|
| 5q14 |
MEF2C |
MADS box transcription enhancer factor 2, polypeptide C (myocyte enhancer factor 2C) |
600662 |
|
|
A, REa |
13(mef2c) |
| 5q14 |
NR2F1, TFCOUP1, ERBAL3, EAR3 |
Nuclear receptor subfamily 2, group F, member 1 (transcription factor COUP 1) |
132890 |
|
|
A |
13(Tcfcoup1) |
| 5q14-q21 |
PAM |
Peptidylglycine alpha-amidating monooxygenase |
170270 |
|
|
REa, A |
1(Pam) |
| 5q14.1 |
AP3B1, ADTB3A, HPS2 |
Adaptor-related protein complex 3, beta 1 subunit (adaptin, beta-3a) |
603401 |
Hermansky-Pudlak syndrome 2, 608233 (3) |
|
REc |
13(Ap3bi, pe) |
| 5q14.1 |
LHFPL2, KIAA0206 |
LHFP-like protein 2 |
609718 |
|
|
R, REc |
|
| 5q14.2 |
ATG10, APG10 |
Autophagy 10, S. cerevisiae, homolog of |
610800 |
|
|
R, REc |
|
| 5q14.2 |
HOMER1, HOMER1B, HOMER1C, HOMER1A |
Homer, homlog 1 (drosophila) |
604798 |
|
|
R |
|
| 5q14.2-q15 |
LNPEP |
Leucyl-cystinyl aminopeptidase |
151300 |
|
|
A |
|
| 5q14.3 |
ARRDC3, TLIMP, KIAA1376 |
Arrestin domain-containing 3 |
612464 |
|
|
REc |
|
| 5q14.3 |
MIR9-2, MIRN9-2 |
Micro RNA 9-2 |
611187 |
|
|
REc |
|
| 5q14.3 |
RHOBTB3, KIAA0878 |
Rho-related BTB domain-containing protein 3 |
607353 |
|
|
REc |
|