H-InvDB x AHG DB
DiseaseInfo Viewer
H-InvDB_8.3 released on March 26, 2013.
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DiseaseInfo Viewer : HIX0036874

TranscriptsHIT000383469
HIT000391384
HIT000500966
UCSC Genome browserchr12:55523419-55524760
G-integrachr12:55523419-55524760
Map position12q13.2

Symbol-
OMIMNA
Disease nameNA
MutationView-

Orphan diseases co-localized with HIX0036874

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 AREI 607936 378889 34935 12q13 456 Exfoliative ichthyosis, autosomal recessive OMIM
2 HPV18I2 167960 3261 - 12q13 456 human papillomavirus (type 18) integration site 2 OMIM
3 CMT2G 608591 431712 34653 12q12-q133 501 Charcot-Marie-Tooth disease, axonal, type 2G OMIM
4 PPKB 600231 8084 7862 12q11-q13 501 palmoplantar keratoderma, Bothnia type OMIM
5 SPG26 609195 550623 34876 12p111-q14 598 spastic paraplegia 26 OMIM
6 STQTL3 606257 282549 - 12p112-q14 668 stature quantitative trait locus 3 OMIM
7 ENUR2 600808 2032 25421 12q13-q21 720 enuresis, nocturnal 2 OMIM
8 RLS 102300 192142 34065 12q12-q21 765 Restless legs syndrome, susceptibility to OMIM
9 RLS 102300 192142 34675 12q12-q21 765 Restless legs syndrome, susceptibility to 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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