Disease Database
last update 08.05.2013
Genes and loci reported throughout the years
annual listing compiled listing
Click on the graphics to download a high resolution copy in tif formate.
Albinism |
Bardet Biedl Syndrome |
Colour Vision Defects |
Cone + Cone Rod Dystrophies |
Congenital Stationary Night Blindness |
Incontinentia Pigmenti |
Leber`s Congenital Amaurosis
|
Other Diseases |
26.02.04 |
09.05.07 |
10.03.04 |
14.03.10 |
14.03.10 |
11.03.04 |
30.09.12 |
08.05.04 |
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Chromosome 1
| CHS1, q42.1-2, LYST | BBS16, q34-q44, SDCCAG8 | ACHM4, p13, GNAT2 |
CRD, p21-13, ABCA4 CORD10, q22, SEMA4A |
LCA9, p36.22, NMNAT1 LCA12, q32, RD3 |
FRFB, p36.13-12, PLA2G5 |
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Chromosome 2
|
BBS15, p15, C2ORF86 BBS5, q31 |
ACHM2, q11.2, CNGA3 | Oguchi, q37, SAG |
LCA, p13.1, ALMS1 LCA16, q37.1, KCNJ13 |
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Chromosome 3
| HPS3, q24, HPS3 | BBS17, p21.31, LZTFL1
|
CSNB Nougaret type, p22, GNAT1 CSNB RHO-type, q21-24, RHO |
LCA, q11.2, IQCB1 |
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Chromosome 4
|
BBS12, q27, FLJ35630 |
CSNB1F, p25, LRIT3 |
LCA14, q31.2, LRAT | ABL, q22-24, MTP |
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Chromosome 5
| OCA4, p13, MATP HPS2, q13, ADTB3 |
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Chromosome 6
|
LCA5, q14, C6ORF152 |
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Chromosome 7
| BBS9, p14, PTHB1 | Tritanopia, q31.3-32, OPN1SW | LCA11, q31.3, IMPDH1 |
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Chromosome 8
| ACHM3, q21.1-22.1, CNGB3 |
CORD9, p11-q11, ADAM9 CORD16, q22, C8orf37 |
LCA11, q22.1, GDF6 |
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Chromosome 9
| OCA3, p23, TYRP1 |
BBS11, q33.1, TRIM32 MORM, q34 |
COD, p24, KCNV2 | Hypomelanosis of Ito, q33-ter |
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Chromosome 10
|
OCA, q22.3, C10ORF11 |
ACHM5, q24, PDE6C |
CORD15, q23.1-23.2, PCDH21 COD4, q24, PDE6C |
COD4, q31.3, PDE6C |
RNANC, q21 MCMR, q23-33, KIF11 GA, q26, OAT |
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Chromosome 11
| HPS5, p15-13, ru2 OCA1, q14.3, Tyr |
BBS1, q13, BBS2L2 | CSNB2B, q13.1, CABP4 |
LCA, q13, CABP4 |
MCOP5, NNOS2, q23.3, MFRP |
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Chromosome 12
|
BBS10, q, FLJ23560/ C12orf58 BBS14, q21.3, CEP290 |
RCD3B/ACHM6, p12.3, PDE6H | CRD, p13.3, CACNA2D4 | LCA10, q21.3, CEP290 | CODA1, q13.13-14.3 |
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Chromosome 13
| Oguchi disease, q34, GRK1 | RB1, q14.2, RB1 |
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Chromosome 14
| BBS8, q32.1, TTC8 | ACHM1, | CRD, q11, RPGRIP | MCOPS5. 14q21-22, OTX2
LCA6, q11, RPGRIP LCA3. q31.3, SPATA7 |
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Chromosome 15
|
HPS9, p22.1, PLDN |
BBS4, q22.3-23, BBS4 |
arCSNB, 15q13-14, SLC24A1 |
Hypomelanosis of Ito, q11-13 |
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Chromosome 16
| OCA5, q24.3, MC1R | BBS2, q13, BBS2 | EOSRD, q23, ADAMTS18 |
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Chromosome 17
| BBS13, q22, MKS | ADCD, p13
CORD5, p13-12, PITPNM3 CRD, q CORD4, q CRD, q11.2, HRG4 |
CSNB1E, q12, GPR179 | LCA1, p13, GUCY2D LCA4, p13.1, AIPL1 |
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Chromosome 18
| CORD1, q21.1-21.3 |
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Chromosome 19
| CORD2, q13.3, CRX | LCA7, q13.3, CRX |
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Chromosome 20
| BBS6, p12, MKKS | HARP, p13, PANK2 |
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Chromosome 21
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Chromosome 22
| HPS4, q11.2-12.2, le |
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Chromosome X
|
CORDX1 (RP15), p22.13-22.11
COD1, p11.4, RPGR COD, p11.4 - q13.1 CORDX3, p11.23, CACNA1F XLPCD2, q27 COD2, q28, OPNMW, OPNLW |
CSNB2, AIED (OA2) , p11.23, CACNA1F CSNB1, p11.3, NYX |
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Mitochondrial
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Remarks
| Triallelic Inheritance |
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Summary
| 20 Loci 17 Genes id. |
18 Loci 16 Genes id. |
10 Loci 8 Genes id. |
31 Loci 20 Genes id. |
14 Loci 13 Genes id. |
5 Loci 1 Genes id. |
25 Loci 24 Genes id. |
11 Loci 8 Genes id. |
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Table 2
|
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Neuronal Ceroid Lipofuscinosis |
Optic Atrophy |
Retinal and Macular Dystrophies |
Retinitis Pigmentosa |
Syndromes |
Usher Syndrome |
Vitreoretinopathies |
Age-related Macular Dystrophies |
26.02.04 |
09.05.07 |
09.05.13 |
09.05.13 |
14.03.10 |
11.03.04 |
14.03.10 |
10.03.04 |
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Chromosome 1
| CLN1, CLN4, p32, PPT | HMSN6, q36.22, MFN2 |
SLSN4, p36, NPHP4 SLSN7, q34-44, SDCCAG8 |
USH2A, q41, USH2A | ARMD2, p22-21, ABCA4 ARMD1, q24-25, HMCN1 ARMD4, q32, CFH |
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Chromosome 2
| MLTV, DHRD, p16, EFEMP1 |
ALMS, p13, ALMS1 CRD + Ameliogenesis, q11, CNNM4 JBTS14, q33, TMEM237 JBTS11, 2q24.3, TTC21B |
SVD, q37, KCNJ13
|
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Chromosome 3
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Chromosome 4
|
DIDMOAD, p16, WFS1 NPHP13, p14, WDR19 |
ARMD, q35.1, TLR3
|
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Chromosome 5
| MCDR3, p13.1-15.33, BSMD, q21.2-33.2, |
RP43, q31.2-34, PDE6A | USH2C, q14.3-21.3, VLGR1 | WGN1, q13-14, VCAN, CSPG2 |
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Chromosome 6
| RPA, Retinal pattern dystrophy, p12, PRPH2 BCAMD, p12.3-q16, IMPG1 PBCRA, q11-16.2 adRD,p21.1,GUCA1B adMD, q14, ELOVL4 STGD3, q14, ELOVL4 Dominant drusen with macular dystrophy, q14 autosomal dominant Stargardt-like Macular Dystrophy, q16, MCDR1, q16, |
RP48, p21.1, GUCA1B RP62, p24.2, MAK RP14, p21.3, TULP1 RP7, digenic RP, p12, PRPH2 RP25, q12.4, EYS RP63, q23 |
North Carolina Macular Dystrophy segregating with progressive sensorineural deafness, 6, STL3, q13, COL9A1 Refsum Disease, adult 2, q22-24, PEX7 JBTS3, q23.3, AHI1 |
ARMD, p12.3, C2 ARMD, p12.3, CFB |
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Chromosome 7
| DCMD, p21-15 | RP42, p15.3, KLHL7 RP9, p14, PIM1K RP10, q31.3, IMPDH |
Refsum Disease, q21-22, PEX1 JBTS15, q32.2, CEP41 |
DFEVR, q31, TSPAN12 |
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Chromosome 8
| OPA6 (ROA), q21-22 | OMD, q24, RP1L1 VMD1, q24 |
RP64, q22, C8orf37 |
Refsum Disease, infantile, q21.1, PXMP3 |
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Chromosome 9
| RP31, p22-13, TOPORS RP21, q34-ter |
JBTS1, q34.3, INPP5E SLSN, q31, NPHP2 |
USH2D, q32-34, Whirlin | ARMD10, q32-33, TLR4 |
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Chromosome 10
| Fundus Xerophthalmicus, q24, RBP4 | ARRP, q11, RBP3 ARRP, q23.1-23.2, PCDH21 ADRP, RP44, q23, RGR |
Refsum Disease, adult, pter-11.2, PAHX Refsum Disease, adult with increased pipecolicacidemia, pter-11.2, |
USH1K, p11.21-q21.1 USH1F, q11.2-21, PCDH15 Modifying |
ARMD5, q11, ERCC6 ARMD7, q26, HTRA1 ARMD8, q26, LOC387715 |
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Chromosome 11
| CLN2, p15.5, CLN2 | OPA7, q14.1-21, TMEM126A | AA, p15, TEAD1 VMD2, ARB, ADVIRC , q12-13.1, BEST1 L-ORD, LOMD , q23.3, CTRP5 |
RP50, q12-13.1, BEST1 ADRP, RP digenic, q13, ROM1 |
USH1C, p14.3, USH1C USH1B, q13.5, MyoVIIa |
EVR3, p12-13 VRNI, q13 EVR1, q13-23, FZD4 EVR4, q13.2, LRP5 |
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Chromosome 12
| FA, q13-14, RDH5 |
STL, q13.11-13.13, COL2A1 JBTS13, q24.11, TCTN1 |
WGN2, q13.11-13.2, COL2A1 |
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Chromosome 13
| CLN5, q21.1-32, CLN5 | STGD2, q34 | ARRP, q34, GRK1 |
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Chromosome 14
| MCDR4, q | RP27, ADRP/CMO, RP,si, q11, NRL RP16, q11-13.1 RP53, q23.3, RDH12 RP51, q32.1, TTC8 |
USH1A, q32, | ARMD3, q32.12, FBLN5 |
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Chromosome 15
| CLN6, q21-23, CLN6 | ESCS, q23, NR2E3 NFRCD, RPA, BRD, q26, RLBP1 |
ARRP, q26, RLBP1 |
Severe Mental Retardation, Spasticity, and Tapetoretinal Degeneration, q24 JBTS12, q26.1, KIF7 |
USH1H, q22-23 USH1J, q23-25.1, |
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Chromosome 16
| CLN3 (JCNL), p12.1, CLN3 | OPA8, q21-22 | PXE, p13.1, ABCC6 HJMD, q22.1, CDH3 |
RP22, p12.3-12.1 RP45, p13, CNGB1 |
RP + skelettal abnormalities, q13.3, GNGPT FHASD, q23.2-24.2 MCDC1, q22, CHST6 KNO2, q23, ADAMTS18
|
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Chromosome 17
| CACD, p13-12 SPD, q24, RGS9 |
RP13, p13.3, PRPC8 RP36, q22, PRCD RP17, q23, CA4 RP30, q25, FSCN2 RP57, q25.3, PDE6G |
MKS1, q22, MKS1 | USH1G, q24-25, SANS |
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Chromosome 18
| OPA4, q12.2-3 |
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Chromosome 19
| OPA3, q13.2-3, OPA3 | MCDR5, q13.31-32 SPD, q24, R9AP |
ADRP, q13.3, CRX RP11, q13.4, PRKCG RP11a, q13.4, PRPF31 |
ARMD6, p13.3, QRX ARMD9, p13.3-2, C3 |
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Chromosome 20
| RP46, p13, IDH3B RP60, q13.33, PRPF6 |
AGS, p12, JAG1 |
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Chromosome 21
| USH1E, q21, |
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Chromosome 22
| OPA5, q12.3 | SFD, q12-13.2, TIMP3 |
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Chromosome X
| OPA2, p11.4-11.21 | CORD3 (RP15) , p22.13-22.11, RPGR PRD, p11.3-11.23, RS, p22.2, XLRS1 |
RP23, p22, RP3, p21.1, RPGR RP6, p21.3-21.2, RP2, p11.3-11.22, RP2 RP24, q26.2-27.2 RP34, q28 |
ND, p11.4, NDP OCRL, q25-26, OCRL1 JBTS10, p22.3-2, CXORF5, OFD1 MTS, p22.1, TIMM8A |
XEFVR, p11.3-11.23, NDP |
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Mitochondrial
| LHON |
KS MELAS, A3243G, MERF, 15975, |
Sensorineural Deafness with RP, MTTS2 |
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Remarks
| digenic inheritance |
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Summary
| 6 Loci 5 Genes id. |
10 Loci 5 Genes id. |
48 Loci 27 Genes id. |
73 Loci 57 Genes id. |
60 Loci 50 Genes id. |
17 Loci 12 Genes id. |
9 Loci 7 Genes id. |
13 Loci 13 Genes id. |