ONTOLOGY REPORT - ANNOTATIONS

Term:Retinitis Pigmentosa
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Accession:RDO:0000589 term browser browse the term
Definition:Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.
Synonyms:exact_synonym: CHOROIDORETINAL DEGENERATION WITH RETINAL REFLEX IN HETEROZYGOUS WOMEN;   CONE-ROD DEGENERATION, X-LINKED;   Cone Rod Degenerations;   Cone Rod Dystrophy;   Cone Rod Retinal Dystrophy;   Cone-Rod Degeneration;   Cone-Rod Dystrophies;   Cone-Rod Dystrophy 2;   Cone-Rod Retinal Dystrophies;   MACULOPATHY, IMPG2-RELATED;   Pigmentary Retinopathies;   Pigmentary Retinopathy;   RETINAL DEGENERATION, AUTOSOMAL RECESSIVE, PROMININ-RELATED;   RETINITIS PIGMENTOSA 1;   RETINITIS PIGMENTOSA 10;   RETINITIS PIGMENTOSA 11;   RETINITIS PIGMENTOSA 12;   RETINITIS PIGMENTOSA 13;   RETINITIS PIGMENTOSA 14;   RETINITIS PIGMENTOSA 15;   RETINITIS PIGMENTOSA 17;   RETINITIS PIGMENTOSA 18;   RETINITIS PIGMENTOSA 19;   RETINITIS PIGMENTOSA 2;   RETINITIS PIGMENTOSA 22;   RETINITIS PIGMENTOSA 23;   RETINITIS PIGMENTOSA 24;   RETINITIS PIGMENTOSA 25;   RETINITIS PIGMENTOSA 26;   RETINITIS PIGMENTOSA 28;   RETINITIS PIGMENTOSA 29;   RETINITIS PIGMENTOSA 3;   RETINITIS PIGMENTOSA 30;   RETINITIS PIGMENTOSA 31;   RETINITIS PIGMENTOSA 32;   RETINITIS PIGMENTOSA 33;   RETINITIS PIGMENTOSA 34;   RETINITIS PIGMENTOSA 35;   RETINITIS PIGMENTOSA 36;   RETINITIS PIGMENTOSA 37;   RETINITIS PIGMENTOSA 4;   RETINITIS PIGMENTOSA 41;   RETINITIS PIGMENTOSA 42;   RETINITIS PIGMENTOSA 50;   RETINITIS PIGMENTOSA 51;   RETINITIS PIGMENTOSA 54;   RETINITIS PIGMENTOSA 55;   RETINITIS PIGMENTOSA 56;   RETINITIS PIGMENTOSA 57;   RETINITIS PIGMENTOSA 58;   RETINITIS PIGMENTOSA 6;   RETINITIS PIGMENTOSA 7;   RETINITIS PIGMENTOSA 7 WITH BULL'S-EYE MACULOPATHY;   RETINITIS PIGMENTOSA 7, DIGENIC;   RETINITIS PIGMENTOSA 9;   RETINITIS PIGMENTOSA WITH OR WITHOUT PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT EPITHELIUM;   RETINITIS PIGMENTOSA, CONCENTRIC;   RETINITIS PIGMENTOSA, JUVENILE, TULP1-RELATED;   RETINITIS PIGMENTOSA, RHODOPSIN-RELATED;   RETINITIS PIGMENTOSA, X-LINKED RECESSIVE, 6;   RP;   RP WITH OR WITHOUT PPRPE;   RP WITH OR WITHOUT PRESERVED PARAARTERIOLE RETINAL PIGMENT EPITHELIUM;   RP1;   RP10;   RP11;   RP12;   RP13;   RP14;   RP15;   RP17;   RP18;   RP19;   RP2;   RP22;   RP23;   RP24;   RP25;   RP26;   RP28;   RP29;   RP3;   RP30;   RP31;   RP32;   RP33;   RP34;   RP35;   RP36;   RP37;   RP4;   RP41;   RP42;   RP50;   RP51;   RP54;   RP55;   RP56;   RP57;   RP58;   RP6;   RP7;   RP9;   Tapetoretinal Degeneration;   Tapetoretinal Degenerations
 primary_id: MESH:D012174
 alt_id: OMIM:123825;   OMIM:146690;   OMIM:162080;   OMIM:180069;   OMIM:180071;   OMIM:180072;   OMIM:180100;   OMIM:180104;   OMIM:180105;   OMIM:180380;   OMIM:181031;   OMIM:268000;   OMIM:300029;   OMIM:300155;   OMIM:300424;   OMIM:300605;   OMIM:312600;   OMIM:312610;   OMIM:312612;   OMIM:600059;   OMIM:600105;   OMIM:600132;   OMIM:600138;   OMIM:600342;   OMIM:600724;   OMIM:600852;   OMIM:601414;   OMIM:601718;   OMIM:602275;   OMIM:602594;   OMIM:602772;   OMIM:604011;   OMIM:604210;   OMIM:604705;   OMIM:605446;   OMIM:606068;   OMIM:607921;   OMIM:608133;   OMIM:608380;   OMIM:608400;   OMIM:609913;   OMIM:609923;   OMIM:610282;   OMIM:610359;   OMIM:610362;   OMIM:610599;   OMIM:611131;   OMIM:612095;   OMIM:612165;   OMIM:612943;   OMIM:613194;   OMIM:613428;   OMIM:613464;   OMIM:613575;   OMIM:613581;   OMIM:613582;   OMIM:613617;   OMIM:613731

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Retinitis Pigmentosa term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Abca4 ATP-binding cassette, subfamily A (ABC1), member 4 GBrowse link Susceptibility ISS 2 218,712,663 218,849,896 RGD:1598552 RGD
G Abca4 ATP-binding cassette, subfamily A (ABC1), member 4 GBrowse link ISS 2 218,712,663 218,849,896 RGD:7240710 OMIM
G Arl6 ADP-ribosylation factor-like 6 GBrowse link ISS 11 41,473,928 41,494,632 RGD:7240710 OMIM
G Best1 bestrophin 1 GBrowse link ISS 1 212,432,811 212,449,374 RGD:7240710 OMIM
G Car4 carbonic anhydrase 4 GBrowse link Susceptibility ISS 10 73,229,211 73,237,707 RGD:1600730 RGD
G Car4 carbonic anhydrase 4 GBrowse link ISS 10 73,229,211 73,237,707 RGD:7240710 OMIM
G Cerkl ceramide kinase-like GBrowse link ISS 3 62,103,856 62,204,116 RGD:7240710 OMIM
G Cerkl ceramide kinase-like GBrowse link ISS 3 62,103,856 62,204,116 RGD:1600829 RGD
G Clrn1 clarin 1 GBrowse link IAGP 2 148,193,633 148,243,575 RGD:634439 RGD
G Clrn1 clarin 1 GBrowse link ISS 2 148,193,633 148,243,575 RGD:634439 RGD
G Cnga1 cyclic nucleotide gated channel alpha 1 GBrowse link ISS 14 38,017,762 38,033,098 RGD:1300380 RGD
G Cnga1 cyclic nucleotide gated channel alpha 1 GBrowse link ISS 14 38,017,762 38,033,098 RGD:7240710 OMIM
G Cngb1 cyclic nucleotide gated channel beta 1 GBrowse link ISS 19 10,186,416 10,257,296 RGD:734793 RGD
G Cngb1 cyclic nucleotide gated channel beta 1 GBrowse link ISS 19 10,186,416 10,257,296 RGD:7240710 OMIM
G Crb1 crumbs homolog 1 (Drosophila) GBrowse link Susceptibility ISS 13 52,558,317 52,725,099 RGD:1600966 RGD
G Crb1 crumbs homolog 1 (Drosophila) GBrowse link ISS 13 52,558,317 52,725,099 RGD:7240710 OMIM
G Crx cone-rod homeobox GBrowse link ISS 1 76,190,656 76,196,333 RGD:734827 RGD
G Fam161a family with sequence similarity 161, member A GBrowse link ISS 14 103,692,758 103,705,775 RGD:7240710 OMIM
G Fscn2 fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) GBrowse link ISS 10 109,789,092 109,795,631 RGD:1598962 RGD
G Fscn2 fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) GBrowse link ISS 10 109,789,092 109,795,631 RGD:7240710 OMIM
G Guca1b guanylate cyclase activator 1B GBrowse link ISS 9 9,058,038 9,065,831 RGD:7240710 OMIM
G Gucy2d guanylate cyclase 2D, membrane (retina-specific) GBrowse link Susceptibility ISS 10 56,012,236 56,027,290 RGD:1599624 RGD
G Gucy2f guanylate cyclase 2F GBrowse link ISS X 36,367,528 36,469,112 RGD:704404 RGD
G Impdh1 IMP (inosine 5'-monophosphate) dehydrogenase 1 GBrowse link ISS 4 56,075,236 56,090,775 RGD:5144134 RGD
G Impdh1 IMP (inosine 5'-monophosphate) dehydrogenase 1 GBrowse link ISS 4 56,075,236 56,090,775 RGD:1599608 RGD
G Impdh1 IMP (inosine 5'-monophosphate) dehydrogenase 1 GBrowse link ISS 4 56,075,236 56,090,775 RGD:7240710 OMIM
G Impg2 interphotoreceptor matrix proteoglycan 2 GBrowse link ISS 11 45,267,158 45,385,026 RGD:7240710 OMIM
G Klhl7 kelch-like family member 7 GBrowse link ISS 4 6,373,343 6,422,371 RGD:7240710 OMIM
G Lrat lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase) GBrowse link ISS 2 174,636,382 174,645,444 RGD:1599754 RGD
G Mertk c-mer proto-oncogene tyrosine kinase GBrowse link ISS 3 116,308,387 116,416,414 RGD:7240710 OMIM
G Mia melanoma inhibitory activity GBrowse link ISS 1 82,255,458 82,257,125 RGD:737744 RGD
G Mt2A metallothionein 2A GBrowse link IEP 19 11,267,811 11,268,585 RGD:6483819 RGD
G Mt2A metallothionein 2A GBrowse link ISS 19 11,267,811 11,268,585 RGD:6483819 RGD
G Ngf nerve growth factor (beta polypeptide) GBrowse link IEP 2 197,621,726 197,632,960 RGD:4891133 RGD
G Nrl neural retina leucine zipper GBrowse link ISS 15 33,649,927 33,656,045 RGD:1580991 RGD
G Nrl neural retina leucine zipper GBrowse link ISS 15 33,649,927 33,656,045 RGD:7240710 OMIM
G Pde6a phosphodiesterase 6A, cGMP-specific, rod, alpha GBrowse link ISS 18 57,194,726 57,268,536 RGD:7240710 OMIM
G Pde6b phosphodiesterase 6B, cGMP-specific, rod, beta GBrowse link ISS 14 1,871,037 1,914,170 RGD:704404 RGD
G Pde6b phosphodiesterase 6B, cGMP-specific, rod, beta GBrowse link ISS 14 1,871,037 1,914,170 RGD:7240710 OMIM
G Prkcg protein kinase C, gamma GBrowse link ISS 1 64,145,749 64,172,712 RGD:737791 RGD
G Prom1 prominin 1 GBrowse link ISS 14 72,122,986 72,230,453 RGD:7240710 OMIM
G Prpf3 PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) GBrowse link ISS 2 190,617,888 190,642,833 RGD:1599535 RGD
G Prpf31 PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) GBrowse link ISS 1 63,888,815 63,900,490 RGD:7240710 OMIM
G Prpf8 PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) GBrowse link ISS 10 62,786,225 62,830,939 RGD:1599210 RGD
G Prpf8 PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) GBrowse link ISS 10 62,786,225 62,830,939 RGD:7240710 OMIM
G Prph peripherin GBrowse link ISS 7 137,836,152 137,839,931 RGD:7240710 OMIM
G Prph2 peripherin 2 GBrowse link ISS 9 9,251,024 9,272,513 RGD:7240710 OMIM
G RGD1304963 similar to hypothetical protein MGC38716 GBrowse link ISS 6 23,852,967 23,860,878 RGD:7240710 OMIM
G Rgr retinal G protein coupled receptor GBrowse link ISS 16 13,242,336 13,256,964 RGD:1599623 RGD
G Rgr retinal G protein coupled receptor GBrowse link ISS 16 13,242,336 13,256,964 RGD:7240710 OMIM
G Rho rhodopsin GBrowse link IED 4 152,057,788 152,062,950 RGD:1601635 RGD
G Rho rhodopsin GBrowse link ISS 4 152,057,788 152,062,950 RGD:1601619 RGD
G Rho rhodopsin GBrowse link ISS 4 152,057,788 152,062,950 RGD:7240710 OMIM
G Rlbp1 retinaldehyde binding protein 1 GBrowse link ISS 1 135,122,063 135,135,420 RGD:1599618 RGD
G Rp1 retinitis pigmentosa 1 (human) GBrowse link ISS 5 15,393,101 15,401,890 RGD:7240710 OMIM
G Rp2 retinitis pigmentosa 2 homolog (human) ISS RGD:7240710 OMIM
G Rp2 retinitis pigmentosa 2 homolog (human) ISS RGD:1599605 RGD
G Rp9 retinitis pigmentosa 9 (human) GBrowse link ISS 8 21,775,021 21,795,978 RGD:7240710 OMIM
G Rpe65 retinal pigment epithelium 65 ISS RGD:7240710 OMIM
G Rpgr retinitis pigmentosa GTPase regulator GBrowse link ISS X 24,722,378 24,782,679 RGD:1599605 RGD
G Rpgr retinitis pigmentosa GTPase regulator GBrowse link ISS X 24,722,378 24,782,679 RGD:1599602 RGD
G Rpgr retinitis pigmentosa GTPase regulator GBrowse link ISS X 24,722,378 24,782,679 RGD:1599600 RGD
G Rpgr retinitis pigmentosa GTPase regulator GBrowse link ISS X 24,722,378 24,782,679 RGD:7240710 OMIM
G Rpgrip1 retinitis pigmentosa GTPase regulator interacting protein 1 GBrowse link ISS 15 27,574,762 27,582,641 RGD:7240710 OMIM
G Rpgrip1 retinitis pigmentosa GTPase regulator interacting protein 1 GBrowse link ISS 15 27,574,762 27,582,641 RGD:1599581 RGD
G Sag S-antigen; retina and pineal gland (arrestin) GBrowse link ISS 9 86,759,933 86,799,902 RGD:7240710 OMIM
G Sema4a sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A GBrowse link ISS 2 180,552,405 180,570,359 RGD:7240710 OMIM
G Snrnp200 small nuclear ribonucleoprotein 200 (U5) GBrowse link ISS 3 114,708,628 114,738,549 RGD:7240710 OMIM
G Topors topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase GBrowse link ISS 5 57,663,121 57,676,619 RGD:7240710 OMIM
G Ttc8 tetratricopeptide repeat domain 8 GBrowse link ISS 6 123,117,534 123,171,840 RGD:7240710 OMIM
G Tulp1 tubby like protein 1 GBrowse link ISS 20 6,592,448 6,604,349 RGD:1624352 RGD
G Tulp1 tubby like protein 1 GBrowse link ISS 20 6,592,448 6,604,349 RGD:7240710 OMIM
G Unc119 UNC-119 homolog (C. elegans) GBrowse link ISS 10 64,285,993 64,291,392 RGD:7240710 OMIM
G Ush2a Usher syndrome 2A (autosomal recessive, mild) GBrowse link TAS 13 104,481,807 104,606,485 RGD:634438 RGD
G Ush2a Usher syndrome 2A (autosomal recessive, mild) GBrowse link IAGP 13 104,481,807 104,606,485 RGD:634438 RGD
G Ush2a Usher syndrome 2A (autosomal recessive, mild) GBrowse link ISS 13 104,481,807 104,606,485 RGD:7240710 OMIM
G Zfp513 zinc finger protein 513 GBrowse link ISS 6 25,150,226 25,153,500 RGD:7240710 OMIM
Alstrom Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Alms1 Alstrom syndrome 1 GBrowse link ISS 4 119,846,037 119,946,085 RGD:7240710 OMIM
Cone Dystrophy 3 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Guca1a guanylate cyclase activator 1a (retina) GBrowse link ISS 9 9,046,617 9,056,984 RGD:7240710 OMIM
Cone Dystrophy 4 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Pde6c phosphodiesterase 6C, cGMP specific, cone, alpha prime GBrowse link ISS 1 242,459,653 242,515,102 RGD:7240710 OMIM
Cone-Rod Dystrophy 10 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Sema4a sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A GBrowse link ISS 2 180,552,405 180,570,359 RGD:7240710 OMIM
Cone-Rod Dystrophy 12 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Prom1 prominin 1 GBrowse link ISS 14 72,122,986 72,230,453 RGD:7240710 OMIM
Cone-Rod Dystrophy 13 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Rpgrip1 retinitis pigmentosa GTPase regulator interacting protein 1 GBrowse link ISS 15 27,574,762 27,582,641 RGD:7240710 OMIM
CONE-ROD DYSTROPHY 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Crx cone-rod homeobox GBrowse link ISS 1 76,190,656 76,196,333 RGD:7240710 OMIM
Cone-Rod Dystrophy 3 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Abca4 ATP-binding cassette, subfamily A (ABC1), member 4 GBrowse link ISS 2 218,712,663 218,849,896 RGD:7240710 OMIM
Cone-Rod Dystrophy 5 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Pitpnm3 PITPNM family member 3 GBrowse link ISS 10 58,903,643 58,931,871 RGD:7240710 OMIM
Cone-Rod Dystrophy 7 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Rims1 regulating synaptic membrane exocytosis 1 GBrowse link ISS 9 21,089,088 21,594,679 RGD:7240710 OMIM
Cone-Rod Dystrophy, X-Linked, 3 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cacna1f calcium channel, voltage-dependent, L type, alpha 1F subunit GBrowse link ISS X 26,908,850 26,937,165 RGD:7240710 OMIM
JALILI SYNDROME term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cnnm4 cyclin M4 GBrowse link ISS 9 35,410,644 35,448,730 RGD:7240710 OMIM
Kearns-Sayre Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ppargc1a peroxisome proliferator-activated receptor gamma, coactivator 1 alpha GBrowse link ISS 14 64,278,115 64,370,912 RGD:7241824 RGD
Leber Congenital Amaurosis 14 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lrat lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase) GBrowse link ISS 2 174,636,382 174,645,444 RGD:7240710 OMIM
Leber Congenital Amaurosis 3 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Spata7 spermatogenesis associated 7 GBrowse link ISS 6 122,786,739 122,832,181 RGD:7240710 OMIM
MICROPHTHALMIA, ISOLATED 5 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mfrp membrane frizzled-related protein GBrowse link ISS 8 47,084,056 47,089,218 RGD:7240710 OMIM
Neuropathy ataxia and retinis pigmentosa term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mt-atp6 mitochondrially encoded ATP synthase 6 GBrowse link ISS MT 7,919 8,599 RGD:5490266 RGD
Newfoundland Rod-Cone Dystrophy term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Rlbp1 retinaldehyde binding protein 1 GBrowse link ISS 1 135,122,063 135,135,420 RGD:7240710 OMIM
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Abhd12 abhydrolase domain containing 12 GBrowse link ISS 3 141,468,888 141,530,219 RGD:7240710 OMIM
Retinal cone dystrophy 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gucy2d guanylate cyclase 2D, membrane (retina-specific) GBrowse link ISS 10 56,012,236 56,027,290 RGD:7240710 OMIM
Retinal Cone Dystrophy 3A term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Pde6h phosphodiesterase 6H, cGMP-specific, cone, gamma GBrowse link ISS 4 174,009,860 174,014,405 RGD:7240710 OMIM
Retinal Cone Dystrophy 3B term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Kcnv2 potassium channel, subfamily V, member 2 GBrowse link ISS 1 230,834,883 230,849,285 RGD:7240710 OMIM
Retinal Cone Dystrophy 4 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cacna2d4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 GBrowse link ISS 4 155,546,301 155,658,429 RGD:7240710 OMIM
Retinitis pigmentosa 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Rp1 retinitis pigmentosa 1 (human) GBrowse link ISS 5 15,393,101 15,401,890 RGD:7240710 OMIM
Retinitis Pigmentosa 10 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Impdh1 IMP (inosine 5'-monophosphate) dehydrogenase 1 GBrowse link ISS 4 56,075,236 56,090,775 RGD:7240710 OMIM
Retinitis Pigmentosa 11 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Prpf31 PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) GBrowse link ISS 1 63,888,815 63,900,490 RGD:7240710 OMIM
Retinitis Pigmentosa 12 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Crb1 crumbs homolog 1 (Drosophila) GBrowse link ISS 13 52,558,317 52,725,099 RGD:7240710 OMIM
Retinitis Pigmentosa 13 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Prpf8 PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) GBrowse link ISS 10 62,786,225 62,830,939 RGD:7240710 OMIM
Retinitis Pigmentosa 14 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Tulp1 tubby like protein 1 GBrowse link ISS 20 6,592,448 6,604,349 RGD:7240710 OMIM
Retinitis Pigmentosa 17 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Car4 carbonic anhydrase 4 GBrowse link ISS 10 73,229,211 73,237,707 RGD:7240710 OMIM
Retinitis Pigmentosa 19 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Abca4 ATP-binding cassette, subfamily A (ABC1), member 4 GBrowse link ISS 2 218,712,663 218,849,896 RGD:7240710 OMIM
Retinitis Pigmentosa 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Rp2 retinitis pigmentosa 2 homolog (human) ISS RGD:7240710 OMIM
Retinitis Pigmentosa 26 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cerkl ceramide kinase-like GBrowse link ISS 3 62,103,856 62,204,116 RGD:7240710 OMIM
Retinitis Pigmentosa 3 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Rpgr retinitis pigmentosa GTPase regulator GBrowse link ISS X 24,722,378 24,782,679 RGD:7240710 OMIM
Retinitis Pigmentosa 30 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fscn2 fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) GBrowse link ISS 10 109,789,092 109,795,631 RGD:7240710 OMIM
Retinitis Pigmentosa 31 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Topors topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase GBrowse link ISS 5 57,663,121 57,676,619 RGD:7240710 OMIM
Retinitis Pigmentosa 33 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Snrnp200 small nuclear ribonucleoprotein 200 (U5) GBrowse link ISS 3 114,708,628 114,738,549 RGD:7240710 OMIM
Retinitis Pigmentosa 35 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Sema4a sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A GBrowse link ISS 2 180,552,405 180,570,359 RGD:7240710 OMIM
Retinitis Pigmentosa 4 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Rho rhodopsin GBrowse link ISS 4 152,057,788 152,062,950 RGD:7240710 OMIM
Retinitis Pigmentosa 41 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Prom1 prominin 1 GBrowse link ISS 14 72,122,986 72,230,453 RGD:7240710 OMIM
Retinitis Pigmentosa 42 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Klhl7 kelch-like family member 7 GBrowse link ISS 4 6,373,343 6,422,371 RGD:7240710 OMIM
RETINITIS PIGMENTOSA 50 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Best1 bestrophin 1 GBrowse link ISS 1 212,432,811 212,449,374 RGD:7240710 OMIM
RETINITIS PIGMENTOSA 51 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ttc8 tetratricopeptide repeat domain 8 GBrowse link ISS 6 123,117,534 123,171,840 RGD:7240710 OMIM
RETINITIS PIGMENTOSA 54 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G RGD1304963 similar to hypothetical protein MGC38716 GBrowse link ISS 6 23,852,967 23,860,878 RGD:7240710 OMIM
RETINITIS PIGMENTOSA 55 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Arl6 ADP-ribosylation factor-like 6 GBrowse link ISS 11 41,473,928 41,494,632 RGD:7240710 OMIM
RETINITIS PIGMENTOSA 56 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Impg2 interphotoreceptor matrix proteoglycan 2 GBrowse link ISS 11 45,267,158 45,385,026 RGD:7240710 OMIM
RETINITIS PIGMENTOSA 58 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Zfp513 zinc finger protein 513 GBrowse link ISS 6 25,150,226 25,153,500 RGD:7240710 OMIM
Retinitis Pigmentosa 7 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Prph peripherin GBrowse link ISS 7 137,836,152 137,839,931 RGD:7240710 OMIM
G Prph2 peripherin 2 GBrowse link ISS 9 9,251,024 9,272,513 RGD:7240710 OMIM
Retinitis Pigmentosa 9 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Rp9 retinitis pigmentosa 9 (human) GBrowse link ISS 8 21,775,021 21,795,978 RGD:7240710 OMIM
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Rpgr retinitis pigmentosa GTPase regulator GBrowse link ISS X 24,722,378 24,782,679 RGD:7240710 OMIM
Senior-Loken syndrome 4 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Nphp4 nephronophthisis 4 GBrowse link ISS 5 169,711,038 169,797,486 RGD:7240710 OMIM
Trifunctional Protein Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hadha hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit GBrowse link ISS 6 26,173,798 26,191,433 RGD:7240710 OMIM
G Hadhb hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit GBrowse link ISS 6 26,139,397 26,173,428 RGD:7240710 OMIM
Usher syndrome, type 1C term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ush1c Usher syndrome 1C GBrowse link ISS 1 96,720,185 96,768,550 RGD:7240710 OMIM
Usher syndrome, type 1D term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cdh23 cadherin-related 23 GBrowse link ISS 20 27,622,049 28,016,145 RGD:7240710 OMIM
Usher syndrome, type 2A term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ush2a Usher syndrome 2A (autosomal recessive, mild) GBrowse link ISS 13 104,481,807 104,606,485 RGD:7240710 OMIM
Usher syndrome, type 2C term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gpr98 G protein-coupled receptor 98 GBrowse link ISS 2 8,851,539 8,915,885 RGD:7240710 OMIM
Usher Syndrome, Type IG term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ush1g Usher syndrome 1G GBrowse link ISS 10 105,395,184 105,399,053 RGD:7240710 OMIM
USHER SYNDROME, TYPE IID term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Dfnb31 deafness, autosomal recessive 31 GBrowse link ISS 5 80,382,665 80,464,817 RGD:7240710 OMIM
USHER SYNDROME, TYPE IIIA term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Clrn1 clarin 1 GBrowse link ISS 2 148,193,633 148,243,575 RGD:7240710 OMIM
USHER SYNDROME, TYPE IJ term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cib2 calcium and integrin binding family member 2 GBrowse link ISS 8 58,093,941 58,110,808 RGD:7240710 OMIM
Usher Syndromes term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ush2a Usher syndrome 2A (autosomal recessive, mild) GBrowse link ISS 13 104,481,807 104,606,485 RGD:7240710 OMIM
Term paths to the root
Path 1
Term Annotations click to browse term
  Diseases 30477
    Eye Diseases 1049
      Eye Diseases, Hereditary 320
        Retinitis Pigmentosa 140
          Aldred syndrome 0
          Alstrom Syndrome 1
          Amaurosis hypertrichosis 0
          Bork Stender Schmidt syndrome 0
          CONE-ROD DYSTROPHY 2 1
          Chang Davidson Carlson syndrome 0
          Chromosome Xp11.3 Deletion Syndrome 0
          Cone Dystrophy 3 1
          Cone Dystrophy 4 1
          Cone Dystrophy, X-Linked, 1 0
          Cone dystrophy, x-linked, with tapetal-like sheen 0
          Cone rod dystrophy amelogenesis imperfecta 0
          Cone-Rod Dystrophy 1 0
          Cone-Rod Dystrophy 10 1
          Cone-Rod Dystrophy 11 0
          Cone-Rod Dystrophy 12 1
          Cone-Rod Dystrophy 13 1
          Cone-Rod Dystrophy 3 1
          Cone-Rod Dystrophy 5 1
          Cone-Rod Dystrophy 7 1
          Cone-Rod Dystrophy 8 0
          Cone-Rod Dystrophy, X-Linked, 2 0
          Cone-Rod Dystrophy, X-Linked, 3 1
          Cone-Rod Dystrophy, X-Linked, Type 1 0
          Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness 0
          Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 0
          Flynn Aird syndrome 0
          Furukawa Takagi Nakao syndrome 0
          Hardikar syndrome 0
          JALILI SYNDROME 1
          Kearns-Sayre Syndrome + 1
          Leber Congenital Amaurosis 14 1
          Leber Congenital Amaurosis 3 1
          Light Fixation Seizure Syndrome 0
          MICROPHTHALMIA, ISOLATED 5 1
          Mainzer-Saldino Disease 0
          Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration 0
          Metaphyseal Chondrodysplasia with Retinitis Pigmentosa 0
          Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 0
          Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 0
          Mirhosseini-Holmes-Walton syndrome 0
          Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 0
          Neuropathy ataxia and retinis pigmentosa 1
          Newfoundland Rod-Cone Dystrophy 1
          Oculotrichodysplasia 0
          Oliver-McFarlane syndrome 0
          Pallidal Degeneration, Progressive, with Retinitis Pigmentosa 0
          Peripheral Cone Dystrophy 0
          Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 1
          Posterior column ataxia with retinitis pigmentosa 0
          RETINITIS PIGMENTOSA 50 1
          RETINITIS PIGMENTOSA 51 1
          RETINITIS PIGMENTOSA 54 1
          RETINITIS PIGMENTOSA 55 1
          RETINITIS PIGMENTOSA 56 1
          RETINITIS PIGMENTOSA 57 0
          RETINITIS PIGMENTOSA 58 1
          RHYNS syndrome 0
          Radioulnar synostosis retinal pigment abnormalities 0
          Retinal Cone Dystrophy 3A 1
          Retinal Cone Dystrophy 3B 1
          Retinal Cone Dystrophy 4 1
          Retinal cone dystrophy 2 1
          Retinitis Pigmentosa 10 1
          Retinitis Pigmentosa 11 1
          Retinitis Pigmentosa 12 1
          Retinitis Pigmentosa 13 1
          Retinitis Pigmentosa 14 1
          Retinitis Pigmentosa 17 1
          Retinitis Pigmentosa 18 0
          Retinitis Pigmentosa 19 1
          Retinitis Pigmentosa 2 1
          Retinitis Pigmentosa 20 0
          Retinitis Pigmentosa 25 0
          Retinitis Pigmentosa 26 1
          Retinitis Pigmentosa 27 0
          Retinitis Pigmentosa 29 0
          Retinitis Pigmentosa 3 1
          Retinitis Pigmentosa 30 1
          Retinitis Pigmentosa 31 1
          Retinitis Pigmentosa 32 0
          Retinitis Pigmentosa 33 1
          Retinitis Pigmentosa 34 0
          Retinitis Pigmentosa 35 1
          Retinitis Pigmentosa 36 0
          Retinitis Pigmentosa 37 0
          Retinitis Pigmentosa 4 1
          Retinitis Pigmentosa 41 1
          Retinitis Pigmentosa 42 1
          Retinitis Pigmentosa 46 0
          Retinitis Pigmentosa 6 0
          Retinitis Pigmentosa 7 2
          Retinitis Pigmentosa 7 With Bull'S-Eye Maculopathy 0
          Retinitis Pigmentosa 7, Digenic 0
          Retinitis Pigmentosa 9 1
          Retinitis Pigmentosa Inversa with Deafness 0
          Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium 0
          Retinitis Pigmentosa, Concentric 0
          Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 0
          Retinitis Pigmentosa, Late-Adult Onset 0
          Retinitis Pigmentosa, Late-Onset Dominant 0
          Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness 1
          Retinitis Pigmentosa, Y-Linked 0
          Retinitis pigmentosa 1 1
          Retinopathy, Pericentral Pigmentary, Autosomal Recessive 0
          Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa 0
          Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 0
          Senior-Loken syndrome 4 1
          Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa 0
          Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 0
          Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 0
          Tapetoretinal Degeneration with Ataxia 0
          Trifunctional Protein Deficiency 2
          Usher Syndromes + 9
Path 2
Term Annotations click to browse term
  Diseases 30477
    Eye Diseases 1049
      Retinal Diseases 405
        Retinal Degeneration 221
          Retinal Dystrophies 145
            Retinitis Pigmentosa 140
              Aldred syndrome 0
              Alstrom Syndrome 1
              Amaurosis hypertrichosis 0
              Bork Stender Schmidt syndrome 0
              CONE-ROD DYSTROPHY 2 1
              Chang Davidson Carlson syndrome 0
              Chromosome Xp11.3 Deletion Syndrome 0
              Cone Dystrophy 3 1
              Cone Dystrophy 4 1
              Cone Dystrophy, X-Linked, 1 0
              Cone dystrophy, x-linked, with tapetal-like sheen 0
              Cone rod dystrophy amelogenesis imperfecta 0
              Cone-Rod Dystrophy 1 0
              Cone-Rod Dystrophy 10 1
              Cone-Rod Dystrophy 11 0
              Cone-Rod Dystrophy 12 1
              Cone-Rod Dystrophy 13 1
              Cone-Rod Dystrophy 3 1
              Cone-Rod Dystrophy 5 1
              Cone-Rod Dystrophy 7 1
              Cone-Rod Dystrophy 8 0
              Cone-Rod Dystrophy, X-Linked, 2 0
              Cone-Rod Dystrophy, X-Linked, 3 1
              Cone-Rod Dystrophy, X-Linked, Type 1 0
              Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness 0
              Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 0
              Flynn Aird syndrome 0
              Furukawa Takagi Nakao syndrome 0
              Hardikar syndrome 0
              JALILI SYNDROME 1
              Kearns-Sayre Syndrome + 1
              Leber Congenital Amaurosis 14 1
              Leber Congenital Amaurosis 3 1
              Light Fixation Seizure Syndrome 0
              MICROPHTHALMIA, ISOLATED 5 1
              Mainzer-Saldino Disease 0
              Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration 0
              Metaphyseal Chondrodysplasia with Retinitis Pigmentosa 0
              Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 0
              Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 0
              Mirhosseini-Holmes-Walton syndrome 0
              Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 0
              Neuropathy ataxia and retinis pigmentosa 1
              Newfoundland Rod-Cone Dystrophy 1
              Oculotrichodysplasia 0
              Oliver-McFarlane syndrome 0
              Pallidal Degeneration, Progressive, with Retinitis Pigmentosa 0
              Peripheral Cone Dystrophy 0
              Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 1
              Posterior column ataxia with retinitis pigmentosa 0
              RETINITIS PIGMENTOSA 50 1
              RETINITIS PIGMENTOSA 51 1
              RETINITIS PIGMENTOSA 54 1
              RETINITIS PIGMENTOSA 55 1
              RETINITIS PIGMENTOSA 56 1
              RETINITIS PIGMENTOSA 57 0
              RETINITIS PIGMENTOSA 58 1
              RHYNS syndrome 0
              Radioulnar synostosis retinal pigment abnormalities 0
              Retinal Cone Dystrophy 3A 1
              Retinal Cone Dystrophy 3B 1
              Retinal Cone Dystrophy 4 1
              Retinal cone dystrophy 2 1
              Retinitis Pigmentosa 10 1
              Retinitis Pigmentosa 11 1
              Retinitis Pigmentosa 12 1
              Retinitis Pigmentosa 13 1
              Retinitis Pigmentosa 14 1
              Retinitis Pigmentosa 17 1
              Retinitis Pigmentosa 18 0
              Retinitis Pigmentosa 19 1
              Retinitis Pigmentosa 2 1
              Retinitis Pigmentosa 20 0
              Retinitis Pigmentosa 25 0
              Retinitis Pigmentosa 26 1
              Retinitis Pigmentosa 27 0
              Retinitis Pigmentosa 29 0
              Retinitis Pigmentosa 3 1
              Retinitis Pigmentosa 30 1
              Retinitis Pigmentosa 31 1
              Retinitis Pigmentosa 32 0
              Retinitis Pigmentosa 33 1
              Retinitis Pigmentosa 34 0
              Retinitis Pigmentosa 35 1
              Retinitis Pigmentosa 36 0
              Retinitis Pigmentosa 37 0
              Retinitis Pigmentosa 4 1
              Retinitis Pigmentosa 41 1
              Retinitis Pigmentosa 42 1
              Retinitis Pigmentosa 46 0
              Retinitis Pigmentosa 6 0
              Retinitis Pigmentosa 7 2
              Retinitis Pigmentosa 7 With Bull'S-Eye Maculopathy 0
              Retinitis Pigmentosa 7, Digenic 0
              Retinitis Pigmentosa 9 1
              Retinitis Pigmentosa Inversa with Deafness 0
              Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium 0
              Retinitis Pigmentosa, Concentric 0
              Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 0
              Retinitis Pigmentosa, Late-Adult Onset 0
              Retinitis Pigmentosa, Late-Onset Dominant 0
              Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness 1
              Retinitis Pigmentosa, Y-Linked 0
              Retinitis pigmentosa 1 1
              Retinopathy, Pericentral Pigmentary, Autosomal Recessive 0
              Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa 0
              Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 0
              Senior-Loken syndrome 4 1
              Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa 0
              Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 0
              Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 0
              Tapetoretinal Degeneration with Ataxia 0
              Trifunctional Protein Deficiency 2
              Usher Syndromes + 9
paths to the root

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