DiseaseInfo Viewer : HIX0011013
| Transcripts | HIT000029737 HIT000043401 HIT000099705 HIT000100384 HIT000249326 HIT000260209 HIT000264787 HIT000269416 HIT000283192 HIT000292526 HIT000300265 HIT000305943 HIT000320937 HIT000320950 HIT000320951 HIT000321030 HIT000330786 HIT000332222 HIT000332223 HIT000384514 :
(show all transcripts) |
|---|---|
| UCSC Genome browser | chr12:113344739-113369991 |
| G-integra | chr12:113344739-113369991 |
| Map position | 12q24.13 |
| Symbol | OAS1 |
| OMIM | 164350 Protein title: 2-PRIME,5-PRIME-@OLIGOADENYLATE SYNTHETASE 1 |
| Disease name |
|
| MutationView | 164350
(JRE version 1.4.0 or later is required.) |
Orphan diseases co-localized with HIX0011013
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 | STUT2 | 609261 | 100049543 | - | 12q241 | 149 | Stuttering, familial persistent 2 | OMIM |
| 2 | PPPD1 | 175850 | 100196910 | 35282 | 12q241-q242 | 318 | Porokeratosis, palmar, plantar, and disseminated 1 | OMIM |
| 3 | CELIAC13 | 612011 | 100188875 | - | 12q24 | 523 | Celiac disease, susceptibility to, 13 | OMIM |
| 4 | CIMT | 608447 | 404677 | - | 12q24 | 523 | Carotid intimal medial thickness | OMIM |
| 5 | DFNA41 | 608224 | 94142 | 34248 | 12q24-qter | 523 | deafness, autosomal dominant 41 | OMIM |
| 6 | DFNA41 | - | 94142 | 34248 | 12q24-qter | 523 | deafness,autosomal dominant 41 | GenAtlas |
| 7 | SLEB4 | 608437 | 404714 | 34625 | 12q24 | 523 | systemic lupus erythematosus, susceptibility to, 4 | OMIM |
| 8 | HDLCQ6 | 610762 | 100188819 | - | 12q23-q24 | 676 | High density lipoprotein cholesterol level QTL 6 | OMIM |
| 9 | SMAL | 600175 | 8094 | 27588 | 12q23-q24 | 676 | spinal muscular atrophy, congenital nonprogressive, of lower limbs | OMIM |
| 10 | CNA1 | 121400 | 1255 | 35220 | 12q | 1469 | cornea plana 1 (autosomal dominant) | OMIM |
| 11 | CODA | 611543 | 100188845 | - | 12q | 1469 | Cavitary optic disc anomalies | OMIM |
| 12 | IBD2 | 601458 | 3378 | 7615 | 12p132-q241 | 1511 | inflammatory bowel disease 2 | OMIM |
| 13 | TELM | 609113 | 550641 | 35207 | 12 | 2213 | telomere length, mean leukocyte | OMIM |
| 14 | TELM | 609113 | 550641 | 35208 | 12 | 2213 | telomere length, mean leukocyte | OMIM |
This database and viewer were originally developed by Dr. Boris Lenhard at Karolinska Institute.
$Revision: 1.58.2.9.2.46 $



