| Table S12 Newly characterized candidate
disease genes that map to uncloned disease loci This is a list of newly characterized genes that map to human disease loci. Only those genes that map to disease loci are shown, all other listings are as per Table S11. |
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| Gene | Human ortholog | Human chromosomal location | Retinal disease in interval | |
| 81416 novel retinol dehydrogenase/CGI-82 | NM_016026 | 14q22 | ACHM1 | |
| 28526 ESTs /KIAA0321 FYVE Zn fingers+weak similarity to hrs-2 | AB002319 | 14q21-22 | ACHM1 | |
| 31514 ESTs, Moderately similar to cell growth regulator rCGR19 [R.norvegicus] | NM_006568 | 14q13 | ACHM1 | |
| 154489 ESTs, Moderately similar to AF094609_1 fertility related protein WMP1 [R.norvegicu | NM_018418 | 14q31 | ACHM1 | |
| 90048 estrogen related receptor beta 2 | NM_004452 | 14q24.3 | ACHM1 | |
| 21389 type II deiodinase | NM_000793 | 14q24.2-q24.3 | ACHM1 | |
| 31170 cyclin K -- Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal do | NM_003858 | 14q32 | ACHM1 | |
| 45390 ESTs | AA565460 | 14q21.1 | ACHM1 | |
| 2032 interferon dependent positive acting transcription factor 3 gamma | NM_006084 | 14q11.2 | ACHM1 | |
| 3879 hypoxia inducible factor 1, alpha subunit | NM_001530 | 14q23.1 | ACHM1 | |
| 4881 granin-like neuroendocrine peptide precursor | NM_013271 | Xp11.23 | AIED | |
| 21761 ESTs, Moderately similar to A56391 lamina associated polypeptide 1C long splice for | NM_022347 | 1q31 | ARMD1 | |
| 45194 ESTs, Moderately similar to unnamed protein product [H.sapiens] | NM_015434 | 1q31 | ARMD1 | |
| 86457 ESTs/novel protein kinase/28152 | NM_020423 | 1q24.2 | ARMD1 | |
| 45194 ESTs, Moderately similar to unnamed protein product [H.sapiens] | NM_015434 | 1q31 | AXPC1 | |
| 32382 Interferon regulatory factor 6 | NM_006147 | 1q32.3 | AXPC1 | |
| 103712 ESTs/protein of unknown function | AC016192 | 1q32.1-32.2 | AXPC1 | |
| 21761 ESTs, Moderately similar to A56391 lamina associated polypeptide 1C long splice for | NM_022347 | 1q31 | AXPC1 | |
| 200894 ESTs/KIAA0306 (cytoskeletal) | AF130080 | 1q32.1/22q11.21 | AXPC1 | |
| 28896 phosphatidylcholine transfer protein-like | AF151810 | 11q13 | BBS1 | |
| 70121 ESTs/novel CaBP | AC005849 | 11q12 | BBS1 | |
| 87450 oxysterol binding protein | NM_002556 | 11q13 | BBS1 | |
| 18522 carnitine palmitoyltransferase 1, liver | NM_001876 | 11q13.1-13.2 | BBS1 | |
| 1532 ESTs/PP1665 | NM_030792 | 11q13.4 | BBS1 | |
| 11678 ESTs | NM_024622 | 2q31 | BBS5 | |
| 26579 ESTs/weakly similar to spectrin | AW590396 | 2q31.3 | BBS5 | |
| 27256 discs large homolog 4 | NM_001365 | 17p13.1 | CACD | |
| 12019 ESTs/Na-K ATPase beta 2 subunit | NM_001678 | 17p13.1 | CACD | |
| 33118 ESTs/novel rdgB2 homolog | R22850 | 17p12-13 | CACD | |
| 54359 Mus musculus APRIL mRNA, complete cds | NM_003808 | 17p13.1 | CACD | |
| 35060 ESTs/novel IAP | AI817054 | 17q12 | CORD4 | |
| 46628 vascular endothelial zinc finger 1 | NM_007146 | 17q29 | CORD4 | |
| 7919 hrs-2 Zn finger SNAP-25 interacting ATPase | AK021483 | 17q25 | CORD4 | |
| 39855 ESTs/novel sialyltransferase | NM_006456 | 17q25 | CORD4 | |
| 9001 nemo like kinase | NM_016231 | 17q11.2 | CORD4 | |
| 35108 ESTs/similar to D. unkempt zinc finger protein | AB051540 | 17q25.2-25.3 | CORD4 | |
| 3667 vitronectin | NM_000638 | 17q11 | CORD4 | |
| 29055 chromobox HP1 | NM_006807 | 17q21.3 | CORD4 | |
| 27359 monocarboxylate transporter 6 | NM_004694 | 17q22 | CORD4 | |
| 152952 ESTs | 17q21.31 | CORD4 | ||
| 54993 novel PI PDE | XM_053638 | 17q21.31 | CORD4 | |
| 24594 mitochondrial uncoupling protein 1 | NM_021734 | 17q25.1 | CORD4 | |
| 18516 H3 histone, family 3B | NM_005324 | 17q25.1 | CORD4 | |
| 27256 discs large homolog 4 | NM_001365 | 17p13.1 | CORD5 | |
| 12019 ESTs/Na-K ATPase beta 2 subunit | NM_001678 | 17p13.1 | CORD5 | |
| 33118 ESTs/novel rdgB2 homolog | R22850 | 17p12-13 | CORD5 | |
| 54359 Mus musculus APRIL mRNA, complete cds | NM_003808 | 17p13.1 | CORD5 | |
| 28209 Mus musculus p53 apoptosis-associated target (Perp) mRNA/tetraspanin | NM_022032 | 6q24 | CORD7 | |
| 28405 serum/glucocorticoid regulated kinase/hypertonicity activated | NM_005627 | 6q23 | CORD7 | |
| 46786 tctex-1 | D50663 | 6q25.2-.3 | CORD7 | |
| 814 DNA segment, Chr 10, ERATO Doi 398, expressed/4.1G | NM_001431 | 6q23.1 | CORD7 | |
| 1843 heat shock 90kD protein 1, alpha | NM_005348 | 1q21.1-22 | CORD8 | |
| 86457 ESTs/novel protein kinase/28152 | NM_020423 | 1q24.2 | CORD8 | |
| 23971 dsRNA adenosine deaminase | NM_001111 | 1q21.1-2 | CORD8 | |
| 32416 ESTs/novel glycosyltransferase | AK026684 | 7p21 | CYMD | |
| 30069 Tax1BP/interacts with A20 | NM_006024 | 7p15 | CYMD | |
| 28896 phosphatidylcholine transfer protein-like | AF151810 | 11q13 | EVR1 | |
| 70121 ESTs/novel CaBP | AC005849 | 11q12 | EVR1 | |
| 87450 oxysterol binding protein | NM_002556 | 11q13 | EVR1 | |
| 18522 carnitine palmitoyltransferase 1, liver | NM_001876 | 11q13.1-13.2 | EVR1 | |
| 2389 myeloid/lymphoid or mixed-lineage leukemia | NM_005933 | 11q23 | EVR1 | |
| 24014 ESTs/similar to KIAA1052 | AC020997 | 11q23 | EVR1 | |
| 12914 Mus musculus ubiquitin-specific protease UBP41 (Ubp41) | NM_004205 | 11q23-24 | EVR1 | |
| 1532 ESTs/PP1665 | NM_030792 | 11q13.4 | EVR1 | |
| 133032 ESTs | AP001150 | 11q23.3 | EVR1 | |
| 29730 four jointed box 1 | AJ245599 | 11p13 | EVR3 | |
| 90048 estrogen related receptor beta 2 | NM_004452 | 14q24.3 | LCA3 | |
| 21389 type II deiodinase | NM_000793 | 14q24.2-q24.3 | LCA3 | |
| 45192 ESTs/KCNE2 minK-type K-channel MiRP1 | NM_005136 | 21q22 | Long QT syndrome 6 | |
| 27359 ESTs/nephronopthisis protein | NM_000272 | 2q12.3 | nephronopthisis | |
| 4881 granin-like neuroendocrine peptide precursor | NM_013271 | Xp11.23 | OPA2 | |
| 29579 ESTs | AB028987 | 19q13.2-13.3 | OPA3 | |
| 101476 ESTs/40838 Na-dependent inorganic phosphate cotransporter/VGLUT-1 | NM_020309 | 19q13.2-13.3 | OPA3 | |
| 34885 ESTs/Abeta crystallin-related/small HSP-like | AC002398 | 19q13.1-13.2 | OPA3 | |
| 56990 excision repair 2 | AF041410 | 19q13.3 | OPA3 | |
| 100975 ESTs | NT_011190 | 19q13.3 | OPA3 | |
| 68170 Kir2.4 | NM_013348 | 19q13 | OPA3 | |
| 130902 ESTs/152519 proline-rich protein | 19q13.31 | OPA3 | ||
| 30200 ESTs, Highly similar to ELECTRON TRANSFER FLAVOPROTEIN BETA-SUBUNIT | NM_001985 | 19q13.3 | OPA3 | |
| 182462 ESTs | 18q12.2 | OPA4 | ||
| 39097 ESTs | 18q12.2 | OPA4 | ||
| 25298 signal transducer and activator of transcription 3 interacting protein 1 | NM_018255 | 18q12 | OPA4 | |
| 4471 ESTs/v. weak similarity to prominin? | NM_017653 | 18q12.3 | OPA4 | |
| 4881 granin-like neuroendocrine peptide precursor | NM_013271 | Xp11.23 | PRD | |
| 46786 tctex-1 | D50663 | 6q25.2-.3 | RCD1 | |
| 41406 ESTs, Highly similar to KIAA0913 protein [H.sapiens] | AB020720 | 10q21 | RNANC | |
| 25695 ESTs/bicaudal C (RNA bp) | NM_025044 | 10q21.2 | RNANC | |
| 30069 Tax1BP/interacts with A20 | NM_006024 | 7p15 | RP9 | |
| 27673 ESTs/osteoblast protein/novel glycosyltransferase | NM_014888 | 7q31.3 | RP10 | |
| 38763 ESTs/IMP dehydrogenase 1 | NM_000883 | 7q31.3-32 | RP10 | |
| 27583 ESTs, Weakly similar to ZK1058.5 [C.elegans]/methyltransferase | NM_018396 | 7q31-32 | RP10 | |
| 27359 monocarboxylate transporter 6 | NM_004694 | 17q22 | RP17 | |
| 1843 heat shock 90kD protein 1, alpha | NM_005348 | 1q21.1-22 | RP18 | |
| 23971 dsRNA adenosine deaminase | NM_001111 | 1q21.1-2 | RP18 | |
| 1640 cerebellar degeneration-related 2 | M63256 | 16p12.3 | RP22 | |
| 153895 ESTs | Xp22.22 | RP23 | ||
| 11678 ESTs | NM_024622 | 2q31 | RP26 | |
| 87653 ESTs/novel Zn finger | AC083776 | 2q23 | RP26 | |
| 111887 ESTs/protein of unknown function | AI277106 | 2q33-34 | RP26 | |
| 26579 ESTs/weakly similar to spectrin | AW590396 | 2q31.3 | RP26 | |
| 23843 ESTs/novel lectin binding protein | AK025603 | 2p16.1 | RP28 | |
| 41271 ESTs/similar to phosphotidylcholine transfer protein | NM_020151 | 2p11.2 | RP28 | |
| 43603 carboxypeptidase E | NM_001873 | 4q31-32 | RP29 | |
| 1693 high mobility group box 2 | AW046897 | 4q34.1 | RP29 | |
| 4881 granin-like neuroendocrine peptide precursor | NM_013271 | Xp11.23 | RP with mental retardation | |
| 30688 ESTs/CMV fusion receptor | AF189251 | 4p15 | STG4 | |
| 74737 ESTs/SOD3 | NM_003102 | 4p15.1 | STG4 | |
| 24309 ESTs/harmartin (tuberous sclerosis 1) | NM_000368 | 9q34 | tuberous sclerosis | |
| 31170 cyclin K -- Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal do | NM_003858 | 14q32 | USH1A | |
| 29762 taurine/beta-alanine transporter | NM_003043 | 3p25-24 | USH2B | |
| 28896 phosphatidylcholine transfer protein-like | AF151810 | 11q13 | VRN1 | |
| 70121 ESTs/novel CaBP | AC005849 | 11q12 | VRN1 | |
| 87450 oxysterol binding protein | NM_002556 | 11q13 | VRN1 | |
| 18522 carnitine palmitoyltransferase 1, liver | NM_001876 | 11q13.1-13.2 | VRN1 | |
| 1532 ESTs/PP1665 | NM_030792 | 11q13.4 | VRN1 | |
| 63232 ESTs/PR domain containing 8 | NM_020226 | 4q21.2-22.1 | WFS2 | |
| 24430 unc5 homolog (C. elegans) 3 | NM_003728 | 4q21-q23 | WFS2 | |
| 46019 ESTs/FYVE Zn finger and WD-40 domain | AI842852 | 4q22.1 | WFS2 | |
| 27728 ESTs | NM_014886 | 5q12-13 | WGN1 | |