H-InvDB x AHG DB
DiseaseInfo Viewer
H-InvDB_8.3 released on March 26, 2013.
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DiseaseInfo Viewer : HIX0001068

TranscriptsHIT000009637
HIT000013016
HIT000031996
HIT000041670
HIT000059521
HIT000070195
HIT000074460
HIT000090624
HIT000280514
HIT000302873
HIT000384290
HIT000385222
HIT000428707
HIT000434325
HIT000463606
HIT000488025
HIT000490572
HIT000495292
HIT000497687
HIT000499892
UCSC Genome browserchr1:151732123-151763892
G-integrachr1:151732123-151763892
Map position1q21.3

SymbolTDRKH
OMIMNA
Disease nameNA
MutationView-

Orphan diseases co-localized with HIX0001068

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 $