-
Notifications
You must be signed in to change notification settings - Fork 2
/
lovd2_AIRE.html
297 lines (254 loc) · 27.2 KB
/
lovd2_AIRE.html
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
49
50
51
52
53
54
55
56
57
58
59
60
61
62
63
64
65
66
67
68
69
70
71
72
73
74
75
76
77
78
79
80
81
82
83
84
85
86
87
88
89
90
91
92
93
94
95
96
97
98
99
100
101
102
103
104
105
106
107
108
109
110
111
112
113
114
115
116
117
118
119
120
121
122
123
124
125
126
127
128
129
130
131
132
133
134
135
136
137
138
139
140
141
142
143
144
145
146
147
148
149
150
151
152
153
154
155
156
157
158
159
160
161
162
163
164
165
166
167
168
169
170
171
172
173
174
175
176
177
178
179
180
181
182
183
184
185
186
187
188
189
190
191
192
193
194
195
196
197
198
199
200
201
202
203
204
205
206
207
208
209
210
211
212
213
214
215
216
217
218
219
220
221
222
223
224
225
226
227
228
229
230
231
232
233
234
235
236
237
238
239
240
241
242
243
244
245
246
247
248
249
250
251
252
253
254
255
256
257
258
259
260
261
262
263
264
265
266
267
268
269
270
271
272
273
274
275
276
277
278
279
280
281
282
283
284
285
286
287
288
289
290
291
292
293
294
295
296
297
<!DOCTYPE HTML>
<HEAD>
<TITLE>FinDis</TITLE>
<!--script>
document.write('<div id="loading"><p><b>LOADING</b>...</p></div><style type="text/css">#wrapper{visibility:hidden}#loading{margin:100px auto;width:480px;border:5px solid #777;padding:20px;text-align:left;}</style>');
</script-->
</HEAD>
<script src="http://ajax.googleapis.com/ajax/libs/jquery/1.7.2/jquery.min.js"></script>
<script src="js_css/jquery.tools.min.js"></script>
<script language="javascript" src="js_css/jquery.transform.js"></script>
<script type="text/javascript" src="js_css/smooth.pack.js"></script>
<style type="text/css">
body {
padding-top: 60px;
padding-bottom: 40px;
padding-left: 60px;
}
</style>
<link rel="stylesheet" type="text/css" href="js_css/standalone.css">
<link rel="stylesheet" type="text/css" href="js_css/styles.css">
<style>
a:hover {
color:#red;
}
#gene_info {
color: grey;
}
div.wrap {
width:830px;
margin-bottom:40px;
margin-left: auto ;
margin-right: auto ;
background:white;
}
.wrap .pane {
font-size:14px;
display:none;
padding:20px;
border:1px solid #999;
border-top:0;
_background-image:none;
background:white;
}
.bImage {
text-align:center;
margin-top:10px;
margin-bottom:10px;
padding:10px;
border:1px;
}
</style>
<script>
function replaceScript() {
var toReplace2 = '<br>';
var replaceWith2 ='';
document.body.innerHTML = document.body.innerHTML.replace(toReplace2, replaceWith2);
var toReplace = 'Fill in at least one of the origin fields to search the gene databases.';
var replaceWith ='';
document.body.innerHTML = document.body.innerHTML.replace(toReplace, replaceWith);
}
</script>
<BODY onload="replaceScript();">
<div id="wrapper">
<div class="wpmenuspan">
<H1><img id="titlelogo" src="img/flag_lg.png"border="0"/>HVP Country Node</H1>
<span id="wpmenubloc">
<ul class="navlistop">
<li><a href="http://findis.org/index.html" class="wpmenu"><b>Home</b> </a></li>
<li><a href="http://findis.org/diseases.html" class="wpmenu"><b>Diseases</b></a></li>
<li><a href="http://findis.org/genes.html" class="wpmenu"><b>Genes</b></a></li>
<li><a href="http://findis.org/publications.html" class="wpmenu"><b>Publications</b></a></li>
<li><a href="http://findis.org/links.html" class="wpmenu"><b>Links</b></a></li>
</ul>
</span>
<!--[if IE 8]>
<style type="text/css">
.wptitle {
left: -200; /* \9 IE 8 and below */
}
</style>
<![endif]-->
<h4 class="wptitle" id="wlogotitle">
<!--[if IE 8]>
<![endif]-->
National/Ethnic Disease Database
</h4>
<!--img id="logoblock1" src="js/logoblock.png" height="" width=""/>
<img id="logoblock2" src="js/logoblock.png" height="" width=""/-->
</div>
<center>
<img src="img/blue_globe.jpeg" id="dis" height="280px" width="300px" style="position: absolute; top: -50;left: 775;">
</center>
<br/><br/><br/><br/><br/><br/>
<!--
Process query params:
gene=AIRE&name=Autoimmune%20regulator&ensemb=ENSG00000160224&diseases=APECED
-->
<br/>
<table class="table table-striped table-hover table-bordered" style="width: 600px; position: relative; left:0px;" border="0" cellpadding="3" width="40%">
<tr><td style="vertical-align:middle;">
<h3><?php
$gene = isset($_GET['gene'])?$_GET['gene']:false;
if (!$gene) {
header("HTTP/1.0 400 Bad Request");
echo "Gene parameter is missing";
exit();
}
echo $gene; ?></h3>
<!-- gene name spelled out
CHROMOSOME 10 OPEN READING FRAME 2 -->
<b id="gene_info" style="font-size: 1.6em; position:relative; top:-19px;">
<?php
$name = isset($_GET['name'])?$_GET['name']:false;
if (!$name) {
header("HTTP/1.0 400 Bad Request");
echo "Name parameter is missing or malformed";
exit();
}
echo $name; ?></b>
</td><td>
<!-- Diseases associated with this gene
-->
<b id="gene_info" style="font-size: 1.1em; color: #FGFGFG;">
Diseases associated with this gene:
<?php
$disname = isset($_GET['disease'])?$_GET['disease']:false;
if (!$disname) {
header("HTTP/1.0 400 Bad Request");
echo "Disease parameter is missing";
exit();
}
$dis_url = "disease.html?disease=".$disname;
echo '<a href="'.$dis_url.'">'.$disname.'</a>';
?>
</a></b></br>
<!-- LOVD gene link -->
<b id="gene_info" style="font-size: 1.1em; color: #FGFGFG;">
LOVD Gene: <a target="_blank" style="font-size: 1em;" href="https://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=AIRE">AIRE</a></b><br/>
<!-- NCBI gene link -->
<b id="gene_info" style="font-size: 1.1em; color: #FGFGFG;">
NCBI Gene: <a target="_blank" style="font-size: 1em;" href="http://www.ncbi.nlm.nih.gov/gene/<?php
$ncbi = isset($_GET['ncbi'])?$_GET['ncbi']:false;
echo $ncbi; ?>"><?php
$gene = isset($_GET['gene'])?$_GET['gene']:false;
echo $gene; ?></a></b><br/>
<!-- Link to Genetics Home Reference
-->
<b id="gene_info" style="font-size: 1.1em; color: #FGFGFG;">
Gene Home Reference: <a href="http://ghr.nlm.nih.gov/gene/<?php
$gene = isset($_GET['gene'])?$_GET['gene']:false;
if (!$gene) {
header("HTTP/1.0 400 Bad Request");
echo "Gene parameter is missing";
exit();
}
echo $gene; ?> " target="_blank"><?php
$gene = isset($_GET['gene'])?$_GET['gene']:false;
if (!$gene) {
header("HTTP/1.0 400 Bad Request");
echo "Gene parameter is missing";
exit();
}
echo $gene;
?></a>
</b></br>
<!-- Ensembl + OMIM links
-->
<b id="gene_info" style="font-size: 1.1em; color: #FGFGFG;">
Ensembl gene:
<?php
$ename = isset($_GET['ensemb'])?$_GET['ensemb']:false;
if (!ename) {
header("HTTP/1.0 400 Bad Request");
echo "Ensembl ID is missing";
exit();
}
$eg_url = "http://www.ensembl.org/Homo_sapiens/Gene/Summary?g=".$ename;
echo '<a href="'.$eg_url.'" target="_blank">'.$ename.'</a>';
?>
<br/>
Ensembl location:
<?php
$ename = isset($_GET['ensemb'])?$_GET['ensemb']:false;
if (!ename) {
header("HTTP/1.0 400 Bad Request");
echo "Ensembl ID is missing";
exit();
}
$eg_url = "http://www.ensembl.org/Homo_sapiens/Location/View?g=".$ename;
echo '<a href="'.$eg_url.'" target="_blank">'.$ename.'</a>';
?></a></b><br/>
<!-- OMIM link -->
<b id="gene_info" style="font-size: 1.1em; color: #FGFGFG;">
OMIM gene:
<?php
$oname = isset($_GET['omim'])?$_GET['omim']:false;
if (!oname) {
header("HTTP/1.0 400 Bad Request");
echo "OMIM ID is missing";
exit();
}
$om_url = "http://omim.org/entry/".$oname;
echo '<a href="'.$om_url.'" target="_blank">'.$oname.'</a>';
?></a></b><br/>
<!-- External Curator Info -->
<b id="gene_info" style="font-size: 1.1em; color: #FGFGFG;">
Curator: Robert Perniola</b><br/>
<!-- Download all variants link -->
<b id="gene_info" style="font-size: 1em; color: #FGFGFG;"><a style="font-size: 1em;" href="downloads/AIRE.tsv.txt">Download Finnish AIRE variants</a> in tab-separated format.</b>
</td></tr>
</table>
<br/>
<h3 style="clear: left; position: relative; display: block; left:-25;"><IMG src="img/globe_blu_sm.jpeg" align="middle"/> Native Variants</h3>
<div>
<table border="0" cellpadding="0" cellspacing="1" class="data table table-striped table-hover table-bordered" style="max-width: none;"> <tbody><tr> <th valign="top" width="50" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='pathogenic_,ASC';document.forms[0].submit();"> <th>Path.</th> </tbody></table></th> <th valign="top" width="90" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/DBID,ASC';document.forms[0].submit();"> <th>DB-ID</th> </tbody></table></th> <th valign="top" width="80" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Exon,ASC';document.forms[0].submit();"> <th>Exon</th> </tbody></table></th> <th valign="top" width="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/DNA,DESC';document.forms[0].submit();"> <th>DNA change</th> <td align="right" width="13"> </td> <td align="right" width="13"></td></tr></tbody></table></th> <th valign="top" width="80" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/DNA_AB006684,ASC';document.forms[0].submit();"> <th>AB006684.1</th> </tbody></table></th> <th valign="top" width="50" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/DNA_g,ASC';document.forms[0].submit();"> <th>DNA_NG_</th> </tbody></table></th> <th valign="top" width="90" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/DNA_chr21,ASC';document.forms[0].submit();"> <th>DNA_chr21</th> </tbody></table></th> <th valign="top" width="50" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/RNA,ASC';document.forms[0].submit();"> <th>RNA change</th> </tbody></table></th> <th valign="top" width="80" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Protein,ASC';document.forms[0].submit();"> <th>Protein</th> </tbody></table></th> <th valign="top" width="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Detection/Template,ASC';document.forms[0].submit();"> <th>Template</th> </tbody></table></th> <th valign="top" width="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Detection/Technique,ASC';document.forms[0].submit();"> <th>Technique</th> </tbody></table></th> <th valign="top" width="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/DNA_published,ASC';document.forms[0].submit();"> <th>Var_pub_as</th> </tbody></table></th> <th valign="top" width="70" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Ref_dbSNP,ASC';document.forms[0].submit();"> <th>dbSNP</th> </tbody></table></th> <th valign="top" width="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Reference,ASC';document.forms[0].submit();"> <th>Reference</th> </tbody></table></th> <th valign="top" width="100" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Genetic_origin,ASC';document.forms[0].submit();"> <th>Genetic origin</th> </tbody></table></th> <th valign="top" width="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Remarks,ASC';document.forms[0].submit();"> <th>Variant remarks</th> </tbody></table></th> <th valign="top" width="90" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Frequency,ASC';document.forms[0].submit();"> <th>Frequency</th> </tbody></table></th> <th valign="top" width="75" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Restriction_site,ASC';document.forms[0].submit();"> <th>Restriction-site</th> </tbody></table></th> <th valign="top" width="120" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Patient_ID,ASC';document.forms[0].submit();"> <th>Patient ID</th> </tbody></table></th> <th valign="top" width="250" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Phenotype/Disease,ASC';document.forms[0].submit();"> <th>Disease</th> </tbody></table></th> <th valign="top" width="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Phenotype_2,ASC';document.forms[0].submit();"> <th>Phenotype additional</th> </tbody></table></th> <th valign="top" width="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Remarks,ASC';document.forms[0].submit();"> <th>Remarks</th> </tbody></table></th> <th valign="top" width="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Reference,ASC';document.forms[0].submit();"> <th>Ref_pat-pheno</th> </tbody></table></th> <th valign="top" width="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Phenotype/Inheritance,ASC';document.forms[0].submit();"> <th>Inherit</th> </tbody></table></th> <th valign="top" width="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Consanguinity,ASC';document.forms[0].submit();"> <th>Consang.</th> </tbody></table></th> <th valign="top" width="70" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Fam_Pat,ASC';document.forms[0].submit();"> <th>Fam_Pat</th> </tbody></table></th> <th valign="top" width="80" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Times_Reported,ASC';document.forms[0].submit();"> <th># Reported</th> </tbody></table></th> <th valign="top" width="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Origin/Geographic,ASC';document.forms[0].submit();"> <th>Geographic origin</th> </tbody></table></th> <th valign="top" width="104" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Origin/Ethnic,ASC';document.forms[0].submit();"> <th>Ethnic origin</th> </tbody></table></th> <th valign="top" width="30" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Gender,ASC';document.forms[0].submit();"> <th>Gender</th> </tbody></table></th> <th valign="top" width="120" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Phenotype/Onset,ASC';document.forms[0].submit();"> <th>Phenotype/Onset</th> </tbody></table></th> <th valign="top" width="90" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Histology,ASC';document.forms[0].submit();"> <th>Histology</th> </tbody></table></th></tr>
<tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/mendelian_genes/variants.php?select_db=AIRE&action=view&view=0006892%2C0000027%2C1';" class=""> <td width="50">+/?</td> <td width="90">AIRE_00024</td> <td width="80">2</td> <td width="200" class="order"><a href="./variants.php?select_db=AIRE&action=view&view=0006892%2C0000027%2C1" class="data table table-striped table-hover table-bordered" style="max-width: none;"></a> + </td> <td width="80">g.5371A>G</td> <td width="50">g.5792A>G</td> <td width="90">g.45706554A>G</td> <td width="50">r.?</td> <td width="80">p.(Lys83Glu)</td> <td width="200">DNA</td> <td width="200">SEQ</td> <td width="200">-</td> <td width="70">-</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/09398839" target="_blank">Nagamine 1997</a>, <a href="http://www.omim.org/entry/607358#0002" target="_blank">(OMIM 0002)</a></td> <td width="100">-</td> <td width="200">AAG>GAG</td> <td width="90">-</td> <td width="75">-</td> <td width="120">?</td> <td width="250">APECED</td> <td width="200">-</td> <td width="200">2 patients</td> <td width="200"><a href="#" onclick="lovd_openWindow('./submitters.php?action=view&view=00068', 'SubmitterView', 400, 175, event.screenX - 50, event.screenY - 50); return false;">Italy:Lecce</a></td> <td width="200">-</td> <td width="200">-</td> <td width="70">-</td> <td width="80">2</td> <td width="200">Finland</td> <td width="104">-</td> <td width="30">-</td> <td width="120">-</td> <td width="90">-</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/mendelian_genes/variants.php?select_db=AIRE&action=view&view=0006892%2C0000062%2C2';"> <td width="50">+/?</td> <td width="90">AIRE_00059</td> <td width="80">6</td> <td width="200" class="order"><a href="./variants.php?select_db=AIRE&action=view&view=0006892%2C0000062%2C2" class="data table table-striped table-hover table-bordered" style="max-width: none;"></a> + </td> <td width="80">g.8473C>T</td> <td width="50">g.8894C>T</td> <td width="90">g.45709656C>T</td> <td width="50">r.?</td> <td width="80">p.(Arg257*)</td> <td width="200">DNA</td> <td width="200">SEQ</td> <td width="200">-</td> <td width="70">-</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/09398839" target="_blank">Nagamine 1997</a>, <a href="http://www.omim.org/entry/607358#0001" target="_blank">(OMIM 0001)</a></td> <td width="100">-</td> <td width="200">CGA>TGA</td> <td width="90">-</td> <td width="75">-</td> <td width="120">?</td> <td width="250">APECED</td> <td width="200">-</td> <td width="200">2 patients</td> <td width="200"><a href="#" onclick="lovd_openWindow('./submitters.php?action=view&view=00068', 'SubmitterView', 400, 175, event.screenX - 50, event.screenY - 50); return false;">Italy:Lecce</a></td> <td width="200">-</td> <td width="200">-</td> <td width="70">-</td> <td width="80">2</td> <td width="200">Finland</td> <td width="104">-</td> <td width="30">-</td> <td width="120">-</td> <td width="90">-</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/mendelian_genes/variants.php?select_db=AIRE&action=view&view=0006927%2C0000672%2C1';"> <td width="50">+/?</td> <td width="90">AIRE_00059</td> <td width="80">6</td> <td width="200" class="order"><a href="./variants.php?select_db=AIRE&action=view&view=0006927%2C0000672%2C1" class="data table table-striped table-hover table-bordered" style="max-width: none;"></a> + </td> <td width="80">g.8473C>T</td> <td width="50">g.8894C>T</td> <td width="90">g.45709656C>T</td> <td width="50">r.?</td> <td width="80">p.(Arg257*)</td> <td width="200">DNA</td> <td width="200">SEQ</td> <td width="200">-</td> <td width="70">-</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/09398839" target="_blank">Nagamine 1997</a>, <a href="http://www.omim.org/entry/607358#0001" target="_blank">(OMIM 0001)</a></td> <td width="100">-</td> <td width="200">founder haplotype Finland</td> <td width="90">several patients</td> <td width="75">-</td> <td width="120">?</td> <td width="250">APECED</td> <td width="200">-</td> <td width="200">-</td> <td width="200"><a href="#" onclick="lovd_openWindow('./submitters.php?action=view&view=00068', 'SubmitterView', 400, 175, event.screenX - 50, event.screenY - 50); return false;">Italy:Lecce</a></td> <td width="200">-</td> <td width="200">-</td> <td width="70">-</td> <td width="80">8</td> <td width="200">Finland</td> <td width="104">-</td> <td width="30">-</td> <td width="120">-</td> <td width="90">-</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/mendelian_genes/variants.php?select_db=AIRE&action=view&view=0006927%2C0000673%2C2';"> <td width="50">+/?</td> <td width="90">AIRE_00059</td> <td width="80">6</td> <td width="200" class="order"><a href="./variants.php?select_db=AIRE&action=view&view=0006927%2C0000673%2C2" class="data table table-striped table-hover table-bordered" style="max-width: none;"></a> + </td> <td width="80">g.8473C>T</td> <td width="50">g.8894C>T</td> <td width="90">g.45709656C>T</td> <td width="50">r.?</td> <td width="80">p.(Arg257*)</td> <td width="200">DNA</td> <td width="200">SEQ</td> <td width="200">-</td> <td width="70">-</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/09398839" target="_blank">Nagamine 1997</a>, <a href="http://www.omim.org/entry/607358#0001" target="_blank">(OMIM 0001)</a></td> <td width="100">-</td> <td width="200">founder haplotype Finland</td> <td width="90">several patients</td> <td width="75">-</td> <td width="120">?</td> <td width="250">APECED</td> <td width="200">-</td> <td width="200">-</td> <td width="200"><a href="#" onclick="lovd_openWindow('./submitters.php?action=view&view=00068', 'SubmitterView', 400, 175, event.screenX - 50, event.screenY - 50); return false;">Italy:Lecce</a></td> <td width="200">-</td> <td width="200">-</td> <td width="70">-</td> <td width="80">8</td> <td width="200">Finland</td> <td width="104">-</td> <td width="30">-</td> <td width="120">-</td> <td width="90">-</td></tr></tbody></table>
</div>
<br/><br/>
<!--
Foreign Variants
-->
<h3 style="position: relative; display: block; left:-25;"><IMG src="http://findis.org/img/globe_blu_sm.jpeg" align="middle"/> All Variants</h3>
<a target="_blank" href="https://grenada.lumc.nl/LOVD2/mendelian_genes/variants.php?select_db=AIRE&action=search_all&search_Variant%2FDNA="><img src="http://www.lovd.nl/2.0/gfx/LOVD_logo130x50.jpg" align="middle"> AIRE - All Variants</a>
</div>
<br/><br/><br/><br/>
<!-- Footer -->
<center>
FOOTER LOGOS GO HERE<br/>
<a href=""><img border="0" src="" height="" width=""></a>
<a href=""><img border="0" src="" height="125" width="300"></a>
<a href=""><img border="0" src="" height="78" width="320"></a>
<br/><br/>
<p style="color: #827B60; font-size: 10px;">
This website was developed from a template which was developed with funding from <b>the Academy of Finland, Center of Excellence in Disease Genetics</b><br/>
and the European Community's <b>Seventh Framework Programme (FP7/2007-2013)</b> under grant agreement number 200754 - <b>the GEN2PHEN project.</b></p>
</center>
</div>
<!--script type="text/javascript">
$(window).load(function() {
$('#loading').fadeOut(500);
$('#wrapper').hide();
$('#wrapper').css('visibility','visible');
$('#wrapper').fadeIn(2000);
});
</script-->
<link rel="stylesheet" href="http://twitter.github.com/bootstrap/assets/css/bootstrap.css">
<link href="http://twitter.github.com/bootstrap/assets/css/bootstrap-responsive.css" rel="stylesheet">
<script>window.jQuery || document.write('<script src="js_css/jquery-1.7.2.min.js"><\/script>')</script>
</BODY>
</HTML>