H-InvDB x AHG DB
DiseaseInfo Viewer
H-InvDB_8.3 released on March 26, 2013.
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DiseaseInfo Viewer : HIX0001253

TranscriptsHIT000008590
HIT000036931
HIT000055045
HIT000058452
HIT000061805
HIT000067583
HIT000264803
HIT000328864
HIT000423295
UCSC Genome browserchr1:161736084-161928876
G-integrachr1:161736084-161928876
Map position1q23.3

SymbolATF6
OMIMNA
Disease nameNA
MutationView-

Orphan diseases co-localized with HIX0001253

The number of co-localized H-Inv loci was computed by converting each cytogenetic band into a physical range on the chromosome, with additional 1000000 bp added on each side.

  Symbol OMIM phenotype Entrez Gene GenAtlas Cytogenetic band
(Link to the latest human genome on UCSC Genome Browser)
Number-of co-localized H-Inv loci (Click for list) Description Source
1 QTV 610141 100379215 - 1q233 197 QT interval, variation in OMIM
2 BDET 605913 85504 - 1q23 363 Bleeding disorder, east Texas type OMIM
3 LFS3 609266 553989 35395 1q23 363 Li-Fraumeni syndrome 3 OMIM
4 BMND2 605833 338027 33719 1q21-q23 897 Bone mineral density variation 2 OMIM
5 DFNA49 608372 317664 34585 1q21-q23 897 deafness, autosomal dominant 49 OMIM
6 DFNA7 601412 1689 7591 1q21-q23 897 deafness, autosomal dominant 7 OMIM
7 CORD8 605549 54109 33832 1q12-q24 1086 cone rod dystrophy 8 OMIM
8 ARCODS 602483 100381211 - 1p211-q233 1315 Ariculocondylar syndrome OMIM

This database and viewer were originally developed by Dr. Boris Lenhard at Karolinska Institute.

$Revision: 1.58.2.9.2.46 $