H-InvDB x AHG DB
DiseaseInfo Viewer
H-InvDB_8.3 released on March 26, 2013.
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DiseaseInfo Viewer : HIX0011013

TranscriptsHIT000029737
HIT000043401
HIT000099705
HIT000100384
HIT000249326
HIT000260209
HIT000264787
HIT000269416
HIT000283192
HIT000292526
HIT000300265
HIT000305943
HIT000320937
HIT000320950
HIT000320951
HIT000321030
HIT000330786
HIT000332222
HIT000332223
HIT000384514
        :
(show all transcripts)
UCSC Genome browserchr12:113344739-113369991
G-integrachr12:113344739-113369991
Map position12q24.13

SymbolOAS1
OMIM164350 Protein title: 2-PRIME,5-PRIME-@OLIGOADENYLATE SYNTHETASE 1
Disease name
  • {Diabetes mellitus, type 1, susceptibility to} (222100)
  • {Viral infection, susceptibility to}
MutationView164350
(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.

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