DiseaseInfo Viewer : HIX0005253
| Transcripts | HIT000006619 HIT000014601 HIT000019119 HIT000023972 HIT000033200 HIT000046927 HIT000064266 HIT000083067 HIT000100238 HIT000253190 HIT000253208 HIT000300498 HIT000329417 HIT000387547 HIT000390565 HIT000391712 HIT000391713 HIT000426688 HIT000495819 HIT000498915 :
(show all transcripts) |
|---|---|
| UCSC Genome browser | chr5:140894583-140998622 |
| G-integra | chr5:140894583-140998622 |
| Map position | 5q31.3 |
| Symbol | DIAPH1 |
| OMIM | 602121 Protein title: DIAPHANOUS, DROSOPHILA, HOMOLOG OF, 1 |
| Disease name |
|
| MutationView | 602121
(JRE version 1.4.0 or later is required.) |
Orphan diseases co-localized with HIX0005253
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 | ORW3 | 601101 | 780903 | 12360 | 5q313-q32 | 243 | Osler-Rendu-Weber syndrome 3 | OMIM |
| 2 | ORW3 | 601101 | 780903 | 35007 | 5q313-q32 | 243 | Osler-Rendu-Weber syndrome 3 | OMIM |
| 3 | PDB4 | 606263 | 94003 | 34013 | 5q31 | 316 | Paget disease of bone 4 | OMIM |
| 4 | PCAL1 | - | - | 33737 | 5q313-q333 | 352 | prostate cancer aggressiveness locus 1 | GenAtlas |
| 5 | IDDM18 | 605598 | 57044 | 33985 | 5q311-q331 | 431 | insulin-dependent diabetes mellitus 18 | OMIM |
| 6 | PSORS11 | 612599 | 100271719 | - | 5q311-q331 | 431 | Psoriasis susceptibility 11 | OMIM |
| 7 | AITD2 | 608174 | 387579 | 33987 | 5q31-q33 | 514 | Autoimmune thyroid disease, susceptibility to, 2 | OMIM |
| 8 | ATOD6 | 605845 | 114477 | - | 5q31-q33 | 514 | Dermatitis, atopic, 6 | OMIM |
| 9 | CELIAC2 | 609754 | 317782 | 28940 | 5q31-q33 | 514 | celiac disease 2 | OMIM |
| 10 | EOS | 131400 | 7908 | 27581 | 5q31-q33 | 514 | eosinophilia, familial | OMIM |
| 11 | IBD5 | 606348 | 50941 | 29687 | 5q31-q33 | 514 | inflammatory bowel disease 5 | OMIM |
| 12 | PFBI | 248310 | 7910 | 29862 | 5q31-q33 | 514 | Plasmodium falciparum blood infection levels | OMIM |
| 13 | PFBI | 248310 | 7910 | 31547 | 5q31-q33 | 514 | Plasmodium falciparum blood infection levels | OMIM |
| 14 | PFPS | - | - | 29862 | 5q31-q33 | 514 | plasmodium falciparum parasitemia susceptibility | GenAtlas |
| 15 | SM1 | 181460 | 7911 | 16211 | 5q31-q33 | 514 | Schistosoma mansoni, susceptibility/resistance to | OMIM |
| 16 | LOC619480 | 608970 | 619480 | 34782 | 5q212-q332 | 651 | butterfly-shaped pigmentary macular dystrophy 2 | OMIM |
| 17 | BSZQTL2 | 609657 | 100188794 | - | 5q | 1598 | Bone size QTL | OMIM |
| 18 | GLC1M | 610535 | 777643 | - | 5q | 1598 | glaucoma 1, open angle, M (juvenile-onset) | OMIM |
| 19 | MPD2 | 606070 | 89879 | 30938 | 5q | 1598 | myopathy, distal 2 | OMIM |
This database and viewer were originally developed by Dr. Boris Lenhard at Karolinska Institute.
$Revision: 1.58.2.9.2.46 $



