|
|
 Symbol
|
 Gene
|
Chr
|
Band
|
Transcripts
|
Variants
|
Unique variants
|
Last updated
|
Associated with diseases
|
| ACPT |
acid phosphatase, testicular |
19 |
q13.33 |
1 |
7 |
7 |
2017-04-26 |
AI hypoplastic |
| AMBN |
ameloblastin (enamel matrix protein) |
4 |
q21 |
1 |
2 |
2 |
2015-11-11 |
AI hypoplastic |
| AMELX |
amelogenin, X-linked |
X |
p22.31-p22.1 |
4 |
28 |
22 |
2017-03-02 |
AI hypomat., AI hypomin., AI hypopla.mat., AI hypopla.min., AI hypoplastic |
| AMTN |
amelotin |
4 |
q13.3 |
2 |
1 |
1 |
2016-11-10 |
AI hypomin. |
| C4orf26 |
chromosome 4 open reading frame 26 |
4 |
q21.1 |
6 |
9 |
6 |
2017-03-08 |
AI hypomin. |
| COL17A1 |
collagen, type XVII, alpha 1 |
10 |
q24.3 |
1 |
11 |
10 |
2016-10-03 |
AI hypopla.mat., AI hypoplastic |
| DLX3 |
distal-less homeobox 3 |
17 |
q21.33 |
1 |
10 |
6 |
2017-02-27 |
AI hypopla.mat. |
| ENAM |
enamelin |
4 |
q13.3 |
2 |
29 |
18 |
2017-03-27 |
AI hypoplastic |
| FAM20A |
family with sequence similarity 20, member A |
17 |
q24.2 |
16 |
54 |
42 |
2017-03-27 |
AI hypoplastic |
| FAM83H |
family with sequence similarity 83, member H |
8 |
q24.3 |
6 |
44 |
26 |
2016-05-26 |
AI hypocalc., AI hypomin. |
| GPR68 |
G protein-coupled receptor 68 |
14 |
q31 |
1 |
3 |
3 |
2016-10-03 |
AI hypomat., AI hypomin.mat |
| ITGB6 |
integrin, beta 6 |
2 |
q24.2 |
7 |
6 |
6 |
2016-05-26 |
AI hypomin., AI hypoplastic |
| KLK4 |
kallikrein-related peptidase 4 |
19 |
q13.41 |
7 |
5 |
4 |
2017-05-10 |
AI hypomat. |
| LAMA3 |
laminin, alpha 3 |
18 |
q11.2 |
11 |
4 |
4 |
2017-03-02 |
AI hypoplastic |
| LAMB3 |
laminin, beta 3 |
1 |
q32 |
4 |
9 |
9 |
2017-03-09 |
AI hypoplastic |
| MMP20 |
matrix metallopeptidase 20 |
11 |
q22.2 |
1 |
17 |
11 |
2017-05-10 |
AI hypomat. |
| SLC24A4 |
solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 |
14 |
q32.12 |
5 |
6 |
5 |
2015-11-16 |
AI hypomat., AI hypomin. |
| WDR72 |
WD repeat domain 72 |
15 |
q21.3 |
1 |
13 |
10 |
2017-03-02 |
AI hypomat., AI hypopla.min. |
|
|
