H-InvDB x AHG DB
DiseaseInfo Viewer
H-InvDB_8.3 released on March 26, 2013.
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DiseaseInfo Viewer : HIX0001006

TranscriptsHIT000000461
HIT000052919
HIT000054539
HIT000082513
HIT000085872
HIT000093343
HIT000340681
HIT000386670
HIT000424515
HIT000497785
UCSC Genome browserchr1:149874873-149889434
G-integrachr1:149874873-149889434
Map position1q21.2

SymbolSV2A
OMIMNA
Disease nameNA
MutationView-

Orphan diseases co-localized with HIX0001006

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 AD13 611152 100188837 - 1q21 561 Alzheimer disease-13 OMIM
2 MCKD1 174000 4169 29073 1q21 561 medullary cystic kidney disease 1 (autosomal dominant) OMIM
3 PTCPRN 605642 79052 34082 1q21 561 Papillary thyroid carcinoma with papillary renal neoplasia OMIM
4 ASPG3 608781 449015 35464 1q21-q22 628 Asperger syndrome, susceptibility to, 3 OMIM
5 SPRR2C 182269 6702 - 1q21-q22 628 small proline-rich protein 2C (pseudogene) OMIM
6 BMND2 605833 338027 33719 1q21-q23 897 Bone mineral density variation 2 OMIM
7 DFNA49 608372 317664 34585 1q21-q23 897 deafness, autosomal dominant 49 OMIM
8 DFNA7 601412 1689 7591 1q21-q23 897 deafness, autosomal dominant 7 OMIM
9 PSORS4 603935 10547 - 1cen-q21 561 psoriasis susceptibility 4 OMIM
10 CORD8 605549 54109 33832 1q12-q24 1086 cone rod dystrophy 8 OMIM
11 SCA19 607346 140452 34273 1p21-q21 1112 spinocerebellar ataxia 19 OMIM
12 SCA19 607346 140452 34745 1p21-q21 1112 spinocerebellar ataxia 19 OMIM
13 ARCODS 602483 100381211 - 1p211-q233 1315 Ariculocondylar syndrome OMIM

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

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