H-InvDB x AHG DB
DiseaseInfo Viewer
H-InvDB_8.3 released on March 26, 2013.
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DiseaseInfo Viewer : HIX0018085

TranscriptsHIT000009529
HIT000038997
HIT000039465
HIT000039993
HIT000041306
HIT000047809
HIT000051469
HIT000052235
HIT000055812
HIT000085417
HIT000085418
HIT000085419
HIT000085497
HIT000090058
HIT000096570
HIT000191495
HIT000191496
HIT000191734
HIT000191735
HIT000191738
        :
(show all transcripts)
UCSC Genome browserchr14:22111109-23021099
G-integrachr14:22111109-23021099
Map position14q11.2

SymbolTRAJ17
OMIMNA
Disease nameNA
MutationView-

Orphan diseases co-localized with HIX0018085

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 RSCIS 605463 64239 - 14q112 272 Radiation sensitivity/chromosome instability syndrome, autosomal dominant OMIM
2 MRT9 611095 100101424 - 14q112-q12 326 Mental retardation, autosomal recessive, 9 OMIM
3 SPD3 610234 780922 34952 14q112-q12 326 Synpolydactyly 3 OMIM
4 DFNA53 609965 353347 34504 14q11-q12 326 deafness, autosomal dominant 53 OMIM
5 IBD4 606675 50608 11163 14q11-q12 326 inflammatory bowel disease 4 OMIM
6 GLC1H - - 33728 14q11-q13 380 glaucoma,primary open angle chronic adult onset,characterized by cupping of the optic nerve head,visual field loss and elevated intraocular pressure,in a series of North American mainly caucasians GenAtlas
7 IBGC1 213600 23706 32135 14q 1654 idiopathic basal ganglia calcification 1 OMIM
8 MNG1 138800 4333 27579 14q 1654 multinodular goitre 1 OMIM
9 SPG32 611252 724107 - 14q 1654 spastic paraplegia 32 (autosomal recessive) OMIM

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

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