DiseaseInfo Viewer : HIX0030033
| Transcripts | HIT000193347_04 HIT000257152 |
|---|---|
| UCSC Genome browser | chr2:90153745-90155679 |
| G-integra | chr2:90153745-90155679 |
| Map position | 2p11.2 |
| Symbol | - |
| OMIM | NA |
| Disease name | NA |
| MutationView | - |
Orphan diseases co-localized with HIX0030033
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 | DFNA43 | 608394 | 192676 | 34444 | 2p12-p111 | 351 | deafness, autosomal dominant 43 | OMIM |
| 2 | RP33 | 610359 | 692221 | 35333 | 2p112-q122 | 572 | retinitis pigmentosa 33 (autosomal dominant) | OMIM |
| 3 | RP28 | 606068 | 23680 | 32244 | 2p15-p11 | 645 | retinitis pigmentosa 28 (autosomal recessive) | OMIM |
| 4 | GLAT | 137030 | 2718 | - | 2p22-p11 | 1053 | galactose enzyme activator | OMIM |
| 5 | ANIB5 | 610402 | 100188810 | 35455 | 2p15-q14 | 1452 | Aneurysm, intracranial berry, 5 | OMIM |
| 6 | HSR | 139900 | 338386 | - | 2p12-q22 | 1432 | Hand skill, relative | OMIM |
| 7 | PKD3 | 600666 | 5312 | 13610 | 2p | 1600 | polycystic kidney disease 3 (autosomal dominant) | OMIM |
This database and viewer were originally developed by Dr. Boris Lenhard at Karolinska Institute.
$Revision: 1.58.2.9.2.46 $