Location |
Symbol |
Title |
MIM # |
Disorder |
Comments |
Method |
Mouse |
17p13.1 |
RCV1 |
Recoverin |
179618 |
|
|
REa, A |
11(Rcvrn) |
17p13.1 |
SLC25A35 |
Solute carrier family 25, member 35 |
610818 |
|
|
REc |
11(Slc25a35) |
17p13.1 |
STK12, ARK2, AIK2, AIM1 |
Serine/threonine protein kinase 12 |
604970 |
|
|
A, R, H |
11(Stk12) |
17p13.1 |
TEKT1 |
Tektin 1 |
609002 |
|
|
REc |
|
17p13.1 |
TNK1 |
Tyrosine kinase, nonreceptor, 1 |
608076 |
|
|
Psh, A |
|
17p13.1 |
TP53, P53, LFS1 |
Tumor protein p53 |
191170 |
Colorectal cancer, 114500 (3); Li-Fraumeni syndrome, 151623 (3);Hepatocellular carcinoma, 114550 (3); Osteosarcoma, 259500 (3); Choroid plexus papilloma, 260500 (3); Nasopharyngeal carcinoma, 161550 (3); Pancreatic cancer,260350 (3); Adrenal cortical carcinoma, 202300 (3); Breast cancer, 114480 (3); Li-Fraumeni-like syndrome, 151623 (3) |
|
REa, A, D |
11(Trp53) |
17p13.1 |
TRK1 |
tRNA lysine-1 |
189918 |
|
|
REa, A |
|
17p13.1 |
TRL2 |
tRNA leucine-2 |
189920 |
|
|
REa, A |
|
17p13.1 |
TRQ1 |
tRNA glutamine-1 |
189919 |
|
|
REa, A |
|
17p13.1 |
WDR16, WDRPUH |
WD repeat-containing protein 16 |
609804 |
|
|
REc |
|
17p13.1 |
ZBTB4, KIAA1538 |
Zinc finger and BTB domain-containing 4 |
612308 |
|
|
R, REc |
|
17p13.1-p12 |
MPDU1, SL15, CDGIF |
Mannose-P-dolichol utilization defect 1 |
604041 |
Congenital disorder of glycosylation, type If, 609180 (3) |
|
R |
|
17p13.1-p12 |
MYH13 |
Myosin, heavy polypeptide 13, skeletal muscle |
603487 |
|
|
R, REc |
11(Myh13) |
17p13.1-p11.2 |
EFNB3, EPLG8, LERK8, EFL6 |
Ephrin B3 |
602297 |
|
|
Psh |
|
17p13.1-q25 |
NOS2B |
Nitric oxide synthase 2B |
600719 |
|
|
Psh |
|
17p13.1-q25 |
NOS2C |
Nitric oxide synthase 2C |
600720 |
|
|
Psh |
|
17p13 |
ACADVL, VLCAD |
Acyl-Coenzyme A dehydrogenase, very long chain |
609575 |
VLCAD deficiency, 201475 (3) |
|
REa, H |
11(Acadvl) |
17p13 |
ARRB2 |
Arrestin, beta 2 |
107941 |
|
|
A |
|
17p13 |
ASPG2 |
Asperger syndrome, susceptibility to, 2 |
608631 |
{Asperger syndrome, susceptibility to, 2} (2) |
breakpoints between CHRNE and GP1BA |
Ch |
|
17p13 |
CARKL |
Carbohydrate kinase-like |
605060 |
|
|
REn |
|
17p13 |
CD68 |
Macrophage antigen CD68 (macrosialin) |
153634 |
|
|
A |
11(Cd68) |