H-InvDB x AHG DB
DiseaseInfo Viewer
H-InvDB_8.3 released on March 26, 2013.
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DiseaseInfo Viewer : HIX0001177

TranscriptsHIT000035664
HIT000064258
HIT000068514
HIT000243817
HIT000257644
HIT000257645
HIT000257646
HIT000330517
HIT000432572
UCSC Genome browserchr1:156776035-156786640
G-integrachr1:156776035-156786640
Map position1q23.1

SymbolSH2D2A
OMIMNA
Disease nameNA
MutationView-

Orphan diseases co-localized with HIX0001177

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 BDET 605913 85504 - 1q23 363 Bleeding disorder, east Texas type OMIM
2 LFS3 609266 553989 35395 1q23 363 Li-Fraumeni syndrome 3 OMIM
3 ASPG3 608781 449015 35464 1q21-q22 628 Asperger syndrome, susceptibility to, 3 OMIM
4 SPRR2C 182269 6702 - 1q21-q22 628 small proline-rich protein 2C (pseudogene) OMIM
5 BMND2 605833 338027 33719 1q21-q23 897 Bone mineral density variation 2 OMIM
6 DFNA49 608372 317664 34585 1q21-q23 897 deafness, autosomal dominant 49 OMIM
7 DFNA7 601412 1689 7591 1q21-q23 897 deafness, autosomal dominant 7 OMIM
8 CORD8 605549 54109 33832 1q12-q24 1086 cone rod dystrophy 8 OMIM
9 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 $