H-InvDB x AHG DB
DiseaseInfo Viewer
H-InvDB_8.3 released on March 26, 2013.
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DiseaseInfo Viewer : HIX0001100

TranscriptsHIT000009833
HIT000013503
HIT000013535
HIT000013611
HIT000017557
HIT000017579
HIT000029910
HIT000033769
HIT000033784
HIT000037111
HIT000042986
HIT000043444
HIT000045240
HIT000050673
HIT000055616
HIT000057132
HIT000059871
HIT000080402
HIT000082771
HIT000099206
        :
(show all transcripts)
UCSC Genome browserchr1:154127780-154164609
G-integrachr1:154127780-154164609
Map position1q21.3

SymbolTPM3
OMIM191030 Protein title: TROPOMYOSIN 3
Disease name
  • Nemaline myopathy 1, autosomal dominant (161800)
MutationView191030
(JRE version 1.4.0 or later is required.)

Orphan diseases co-localized with HIX0001100

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 HRM2 139450 100379199 - 1q213 352 Hair, curly OMIM
2 AD13 611152 100188837 - 1q21 561 Alzheimer disease-13 OMIM
3 MCKD1 174000 4169 29073 1q21 561 medullary cystic kidney disease 1 (autosomal dominant) OMIM
4 PTCPRN 605642 79052 34082 1q21 561 Papillary thyroid carcinoma with papillary renal neoplasia OMIM
5 ASPG3 608781 449015 35464 1q21-q22 628 Asperger syndrome, susceptibility to, 3 OMIM
6 SPRR2C 182269 6702 - 1q21-q22 628 small proline-rich protein 2C (pseudogene) OMIM
7 BMND2 605833 338027 33719 1q21-q23 897 Bone mineral density variation 2 OMIM
8 DFNA49 608372 317664 34585 1q21-q23 897 deafness, autosomal dominant 49 OMIM
9 DFNA7 601412 1689 7591 1q21-q23 897 deafness, autosomal dominant 7 OMIM
10 PSORS4 603935 10547 - 1cen-q21 561 psoriasis susceptibility 4 OMIM
11 CORD8 605549 54109 33832 1q12-q24 1086 cone rod dystrophy 8 OMIM
12 SCA19 607346 140452 34273 1p21-q21 1112 spinocerebellar ataxia 19 OMIM
13 SCA19 607346 140452 34745 1p21-q21 1112 spinocerebellar ataxia 19 OMIM
14 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 $