RP
MCID: RTN008
MIFTS: 86

Retinitis Pigmentosa (RP) malady

Genetic diseases, Rare diseases, Eye diseases categories
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Summaries for Retinitis Pigmentosa

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NIH Rare Diseases:42 Retinitis pigmentosa (rp) is the name given to a group of inherited eye diseases that affect the light-sensitive part of the eye (retina). rp causes cells in the retina to breakdown and die, eventually resulting in vision loss. the first sign of rp is usually night blindness. as the condition progresses, affected individuals also develop tunnel vision. sometimes rp occurs by itself (isolated rp), and other times it occurs with additional signs and symptoms (syndromic rp). mutations in at least 50 genes have been found to cause rp. there is no cure for rp, however, there are a few treatment options to slow down the progression of the disease. these options include light avoidance, use of low-vision aids, and vitamin a supplementation. last updated: 10/14/2011

MalaCards based summary: Retinitis Pigmentosa, also known as retinitis pigmentosa 1, is related to leber congenital amaurosis and usher syndrome, and has symptoms including retinal vascular anomalies/retinal telangiectasia, retinitis pigmentosa/retinal pigmentary changes and optic nerve anomaly/optic atrophy/anomaly of the papilla. An important gene associated with Retinitis Pigmentosa is RP1 (retinitis pigmentosa 1 (autosomal dominant)), and among its related pathways are the visual cycle I (vertebrates) and The phototransduction cascade. The compound vitamin a have been mentioned in the context of this disorder. Affiliated tissues include retina, bone and eye, and related mouse phenotypes are pigmentation and vision/eye.

Disease Ontology:8 A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.

Descriptions from OMIM:46 600138, 600132, 603809, 613194, 268000 613582, 268025, 613464, 613767, 612943, 613862, 606068, 602772, 613581, 608380, 609913, 600059, 613769, 613428, 613758, 300029, 615725, 613801, 610359, 612712, 312612, 613827, 300605, 613861, 615922, 609923, 601414, 614181, 615434, 180100, 610599, 613756, 600105, 180105, 610282, 611131, 613750, 614494, 613810, 613575, 600852, 300424, 615780, 607921, 614180, 608133, 613731, 615565, 120970, 613794, 615233, 312600, 601718, 613983, 400004, 180104, 613617, 612572, 612095, 612165, 602594, 180210, 268060, 300155, 613660, 613809, 614500, 604232, 604393, 613341 more

GeneReviews summary for rp-overview

Aliases & Classifications for Retinitis Pigmentosa

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Sources:
46OMIM, 10DISEASES, 44Novoseek, 62UMLS, 30LifeMap Discovery®, 8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 48Orphanet, 9diseasecard, 22GTR, 20GeneTests, 39NCIt, 57SNOMED-CT, 27ICD9CM, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Retinitis Pigmentosa, Aliases & Descriptions:

Name: Retinitis Pigmentosa 30 8 19 42 48 62
Retinitis Pigmentosa 1 9 42 22 46 44 62
Retinitis Pigmentosa 59 9 22 46 62
Cone-Rod Dystrophy 46 10 44 62
Rod-Cone Dystrophy 42 20 22
 
Rp 8 42
Retinitis Pigmentosa Type 53 8
Retinitis Pigmentosa Type 59 8
Retinitis Pigmentosa-1 8
Rp1 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 48 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

48
retinitis pigmentosa:
Inheritance: Autosomal dominant,Autosomal recessive,Mitochondrial inheritance,X-linked recessive; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Normal


Related Diseases for Retinitis Pigmentosa

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Diseases in the Retinitis Pigmentosa family:

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, X Linked Retinitis Pigmentosa 20
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 4
Retinitis Pigmentosa 41 Retinitis Pigmentosa 6
Retinitis Pigmentosa 7 Retinitis Pigmentosa 9
Prph2-Related Retinitis Pigmentosa Rho-Related Retinitis Pigmentosa
Rp1-Related Retinitis Pigmentosa Prpf8-Related Retinitis Pigmentosa
Prpf3-Related Retinitis Pigmentosa Crb1-Related Retinitis Pigmentosa
Abca4-Related Retinitis Pigmentosa Rpe65-Related Retinitis Pigmentosa
Rpgr-Related Retinitis Pigmentosa Impdh1-Related Retinitis Pigmentosa
Rp2-Related Retinitis Pigmentosa Prpf31-Related Retinitis Pigmentosa
Cnga1-Related Retinitis Pigmentosa Cngb1-Related Retinitis Pigmentosa
Rgr-Related Retinitis Pigmentosa Pde6a-Related Retinitis Pigmentosa
Mertk-Related Retinitis Pigmentosa Ush2a-Related Retinitis Pigmentosa
Pde6b-Related Retinitis Pigmentosa Nr2e3-Related Retinitis Pigmentosa
Crx-Related Retinitis Pigmentosa Tulp1-Related Retinitis Pigmentosa
Ca4-Related Retinitis Pigmentosa Fscn2-Related Retinitis Pigmentosa
Nrl-Related Retinitis Pigmentosa Rom1-Related Retinitis Pigmentosa
Sema4a-Related Retinitis Pigmentosa Topors-Related Retinitis Pigmentosa
Rp9-Related Retinitis Pigmentosa Aipl1-Related Retinitis Pigmentosa
Guca1b-Related Retinitis Pigmentosa Eys-Related Retinitis Pigmentosa
Snrnp200-Related Retinitis Pigmentosa Klhl7-Related Retinitis Pigmentosa
Best1-Related Retinitis Pigmentosa Cerkl-Related Retinitis Pigmentosa
Prom1-Related Retinitis Pigmentosa C2orf71-Related Retinitis Pigmentosa
Ttc8-Related Retinitis Pigmentosa Sag-Related Retinitis Pigmentosa
Idh3b-Related Retinitis Pigmentosa Clrn1-Related Retinitis Pigmentosa
Fam161a-Related Retinitis Pigmentosa Impg2-Related Retinitis Pigmentosa
Lrat-Related Retinitis Pigmentosa Spata7-Related Retinitis Pigmentosa
Znf513-Related Retinitis Pigmentosa Dhdds-Related Retinitis Pigmentosa
Prcd-Related Retinitis Pigmentosa Rbp3-Related Retinitis Pigmentosa
Pde6g-Related Retinitis Pigmentosa Prpf6-Related Retinitis Pigmentosa
Rdh12-Related Retinitis Pigmentosa Mak-Related Retinitis Pigmentosa
C8orf37-Related Retinitis Pigmentosa Arl6-Related Retinitis Pigmentosa
Retinitis Pigmentosa 67 Retinitis Pigmentosa 39
Retinitis Pigmentosa 58 Retinitis Pigmentosa 54
Retinitis Pigmentosa 38 Retinitis Pigmentosa 47
Retinitis Pigmentosa 55 Retinitis Pigmentosa 56
Retinitis Pigmentosa 61 Retinitis Pigmentosa 68
Retinitis Pigmentosa-40 Retinitis Pigmentosa 49
Retinitis Pigmentosa, Juvenile Retinitis Pigmentosa 43
Retinitis Pigmentosa 62 Retinitis Pigmentosa 48
Retinitis Pigmentosa 63 Retinitis Pigmentosa 42
Retinitis Pigmentosa 10 Retinitis Pigmentosa 64
Retinitis Pigmentosa 70 Retinitis Pigmentosa 66
Retinitis Pigmentosa 44 Retinitis Pigmentosa 65
Retinitis Pigmentosa-50 Retinitis Pigmentosa 27
Retinitis Pigmentosa 51 Retinitis Pigmentosa 37
Retinitis Pigmentosa 45 Retinitis Pigmentosa 57
Retinitis Pigmentosa 46 Retinitis Pigmentosa 69
Retinitis Pigmentosa 60 Retinitis Pigmentosa 2

Diseases related to Retinitis Pigmentosa via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 525)
idRelated DiseaseScoreTop Affiliating Genes
1leber congenital amaurosis31.6AIPL1, CRX, RDH12
2usher syndrome31.6GPR98, CLRN1
3retinal degeneration31.3NR2E3, BEST1, PRCD, PROM1, UNC119, AIPL1
4blindness31.2CRX, NR2E3, AIPL1
5rhyns syndrome31.2RDH12, RBP3, NR2E3, MAK, CRX, AIPL1
6fundus dystrophy30.6ARL6, RDH12, CRX, BEST1, AIPL1
7cone-rod dystrophy 230.6AIPL1, UNC119, CRX
8retinitis11.6
9cone dystrophy11.0
10cone-rod dystrophy x-linked 110.8
11cystoid macular edema10.7
12cone-rod dystrophy 310.7
13amelogenesis imperfecta10.7
14neuropathy ataxia retinitis pigmentosa syndrome10.7
15cone-rod dystrophy x-linked 310.6
16newfoundland rod-cone dystrophy10.6
17ataxia10.6
18retinitis pigmentosa 210.6
19posterior column ataxia with retinitis pigmentosa10.6
20cone-rod dystrophy 610.6
21cone-rod dystrophy 1210.6
22cone-rod dystrophy 710.6
23cone-rod dystrophy 1110.6
24cone-rod dystrophy 1610.6
25cone-rod dystrophy 1510.6
26cone-rod dystrophy 1310.6
27cataract10.6
28cone-rod dystrophy 110.6
29microcornea, rod-cone dystrophy, cataract, and posterior staphyloma10.6
30stargardt disease10.5
31cone-rod dystrophy10.5
32choroiditis10.5
33choroideremia10.5
34retinitis pigmentosa 310.5
35macular dystrophy10.5
36cone-rod dystrophy x-linked 210.5
37cone-rod dystrophy 810.5
38cone-rod dystrophy 1010.5
39cone-rod dystrophy 1410.5
40cone-rod dystrophy 1710.5
41posterior column ataxia10.5
42night blindness10.5
43muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus10.4
44retinitis pigmentosa 1710.4
45retinitis pigmentosa 910.4
46polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract10.4
47x-linked intellectual disability-retinitis pigmentosa syndrome10.4
48retinitis pigmentosa autosomal recessive10.4
49megaloblastic anemia10.4
50danon disease10.4

Graphical network of the top 20 diseases related to Retinitis Pigmentosa:



Diseases related to retinitis pigmentosa

Symptoms for Retinitis Pigmentosa

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Symptoms by clinical synopsis from OMIM:

180100

Clinical features from OMIM:

600138, 600132, 603809, 613194, 268000, 613582, 268025, 613464, 613767, 612943 613862, 606068, 602772, 613581, 608380, 609913, 600059, 613769, 613428, 613758, 300029, 615725, 613801, 610359, 612712, 312612, 613827, 300605, 613861, 615922, 609923, 601414, 614181, 615434, 180100, 610599, 613756, 600105, 180105, 610282, 611131, 613750, 614494, 613810, 613575, 600852, 300424, 615780, 607921, 614180, 608133, 613731, 615565, 120970, 613794, 615233, 312600, 601718, 613983, 400004, 180104, 613617, 612572, 612095, 612165, 602594, 180210, 268060, 300155, 613660, 613809, 614500, 604232, 604393, 613341 more

Symptoms:

48 (show all 29)
  • retinal vascular anomalies/retinal telangiectasia
  • retinitis pigmentosa/retinal pigmentary changes
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • night blindness/hemeralopia
  • mild visual loss/impaired visual acuity
  • photophobia
  • abnormal erg/electroretinogram/electroretinography
  • nystagmus
  • broad nasal root
  • anteverted nares/nostrils
  • sensorineural deafness/hearing loss
  • conductive deafness/hearing loss
  • abnormal scarring/cheloids/hypertrophic scars
  • micropenis/small penis/agenesis
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • late puberty/hypogonadism/hypogenitalism
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • x-linked recessive inheritance
  • glaucoma
  • keratoconus/keratoglobus
  • cataract/lens opacification
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • hyperinsulinism/hyperinsulinemia
  • generalized obesity
  • insulin-independent/type 2 diabetes
  • hypereflexia

HPO human phenotypes related to Retinitis Pigmentosa:

(show all 31)
id Description Frequency HPO Source Accession
1 abnormality of the testis hallmark (90%) HP:0000035
2 conductive hearing impairment hallmark (90%) HP:0000405
3 sensorineural hearing impairment hallmark (90%) HP:0000407
4 wide nasal bridge hallmark (90%) HP:0000431
5 anteverted nares hallmark (90%) HP:0000463
6 visual impairment hallmark (90%) HP:0000505
7 abnormal electroretinogram hallmark (90%) HP:0000512
8 photophobia hallmark (90%) HP:0000613
9 nystagmus hallmark (90%) HP:0000639
10 optic atrophy hallmark (90%) HP:0000648
11 night blindness hallmark (90%) HP:0000662
12 atypical scarring of skin hallmark (90%) HP:0000987
13 abnormal retinal pigmentation hallmark (90%) HP:0007703
14 abnormality of the retinal vasculature hallmark (90%) HP:0008046
15 hypoplasia of penis hallmark (90%) HP:0008736
16 cognitive impairment hallmark (90%) HP:0100543
17 glaucoma typical (50%) HP:0000501
18 cataract typical (50%) HP:0000518
19 ophthalmoparesis typical (50%) HP:0000597
20 hyperinsulinemia typical (50%) HP:0000842
21 obesity typical (50%) HP:0001513
22 decreased corneal thickness typical (50%) HP:0100689
23 hyperreflexia occasional (7.5%) HP:0001347
24 type ii diabetes mellitus occasional (7.5%) HP:0005978
25 cystoid macular edema rare (5%) HP:0011505
26 retinitis pigmentosa HP:0000510
27 night blindness HP:0000662
28 constricted visual fields HP:0001133
29 absent rod-and cone-mediated responses on erg HP:0007688
30 bony spicule pigmentary retinopathy HP:0007737
31 autosomal recessive inheritance HP:0000007

Drugs & Therapeutics for Retinitis Pigmentosa

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Genetic Tests for Retinitis Pigmentosa

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Genetic tests related to Retinitis Pigmentosa:

id Genetic test Affiliating Genes
1 Cone-Rod Dystrophy Multi-Gene Panels20
2 Retinitis Pigmentosa 122
3 Retinitis Pigmentosa 5922
4 Cone-Rod Dystrophy22

Anatomical Context for Retinitis Pigmentosa

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MalaCards organs/tissues related to Retinitis Pigmentosa:

32
Retina, Bone, Eye, Testes, Kidney, Skin, Cortex, Thyroid

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Retinitis Pigmentosa:
id TissueAnatomical CompartmentCell Relevance
1 EyeOuter Nuclear LayerCone Precursor Cells Potential therapeutic candidate, affected by disease
2 EyeRetinal Pigmented EpitheliumMature Retinal Pigmented Epithelium Cells Potential therapeutic candidate, affected by disease
3 EyeRetinal Pigmented EpitheliumRetinal Pigmented Epithelium Progenitor Cells Potential therapeutic candidate, affected by disease
4 EyeOuter Nuclear LayerRod Precursor Cells Potential therapeutic candidate, affected by disease

Animal Models for Retinitis Pigmentosa or affiliated genes

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MGI Mouse Phenotypes related to Retinitis Pigmentosa:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.5CRX, BEST1, PROM1, UNC119
2MP:000539110.3ARL6, AIPL1, GPR98, UNC119, CLRN1, PROM1
3MP:000363110.1PROM1, CLRN1, GPR98, AIPL1, PDE6G, CRX

Publications for Retinitis Pigmentosa

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Articles related to Retinitis Pigmentosa:

(show top 50)    (show all 1195)
idTitleAuthorsYear
1
RNA interference gene therapy in dominant retinitis pigmentosa and cone-rod dystrophy mouse models caused by GCAP1 mutations. (24778606)
2014
2
Hexokinase 1 and retinitis pigmentosa: insights into the retina and the molecule. (25381353)
2014
3
Early-onset X-linked Retinitis Pigmentosa in a Heterozygous Female Harboring an Intronic Donor Splice Site Mutation in the Retinitis Pigmentosa GTPase Regulator Gene. (24428633)
2014
4
Comments on Letter to the Editor "Unilateral intravitreal dexamethazone implant for bilateral retinitis pigmentosa-related macular edema". (23996148)
2013
5
A historical perspective on the early treatment of night blindness and the use of dubious and unproven treatment strategies for patients with retinitis pigmentosa. (23911150)
2013
6
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. (23143442)
2012
7
Comparison between MP-1 and Humphrey visual field defects in glaucoma and retinitis pigmentosa. (22733099)
2012
8
Mutations in the I^-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa. (21655355)
2011
9
Bilateral presumed astrocytic hamartomas in a patient with retinitis pigmentosa. (22174574)
2011
10
A novel nonsense mutation in rhodopsin gene in two Indonesian families with autosomal recessive retinitis pigmentosa. (21174529)
2011
11
Evolution of an Astrocytic Hamartoma of the Optic Nerve Head in a Patient with Retinitis Pigmentosa - Photographic Documentation over 2 Years of Follow-Up. (21347192)
2011
12
CLRN1 mutations cause nonsyndromic retinitis pigmentosa. (21310491)
2011
13
Novel RPGR gene mutation in a Chinese family with X-linked recessive retinitis pigmentosa]. (21914266)
2011
14
Clinical and Rehabilitative Management of Retinitis Pigmentosa: Up-to-Date. (22131870)
2011
15
The management of "coats' response" in a patient with x-linked retinitis pigmentosa-a case report. (22084788)
2011
16
Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa. (21618346)
2011
17
Investigating the mechanism of disease in the RP10 form of retinitis pigmentosa. (20238057)
2010
18
Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans. (20507925)
2010
19
Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype. (20537394)
2010
20
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. (21069908)
2010
21
Molecular mechanisms of rhodopsin retinitis pigmentosa and the efficacy of pharmacological rescue. (19913029)
2010
22
Gene therapy in the Retinal Degeneration Slow model of retinitis pigmentosa. (20238065)
2010
23
Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family. (19710410)
2010
24
Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. (19520207)
2009
25
Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10). (18385099)
2008
26
EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. (18836446)
2008
27
Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. (18552978)
2008
28
Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle. (18806796)
2008
29
Weill-Marchesani syndrome associated with retinitis pigmentosa. (17322607)
2007
30
The novel R252P mutation of the RHO gene in patients with retinitis pigmentosa from Bashkortostan]. (17936999)
2007
31
Retinitis pigmentosa associated with blepharophimosis, blue dot cataract and primary inferior oblique overaction: a new syndrome complex? (17322611)
2007
32
Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations. (17093403)
2006
33
Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects. (17014888)
2006
34
Rod and cone opsin mislocalization in an autopsy eye from a carrier of X-linked retinitis pigmentosa with a Gly436Asp mutation in the RPGR gene. (16935610)
2006
35
Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa. (16139010)
2005
36
Retinitis pigmentosa in mevalonate kinase deficiency. (16435210)
2005
37
Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation. (15570217)
2004
38
Treatment of cystoid macular edema related to retinitis pigmentosa with intravitreal triamcinolone acetonide: case report. (15180250)
2003
39
Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa. (12362048)
2002
40
Mutation analysis of codons 345 and 347 of rhodopsin gene in Indian retinitis pigmentosa patients. (11910130)
2001
41
Long-term protection of retinal structure but not function using RAAV.CNTF in animal models of retinitis pigmentosa. (11708883)
2001
42
Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa. (10711677)
2000
43
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. (10192380)
1999
44
Analysis of the IRBP gene as a cause of RP in 45 ARRP Spanish families. Autosomal recessive retinitis pigmentosa. Interstitial retinol binding protein. Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa. (9895244)
1998
45
Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele. (9345108)
1997
46
A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21. (9070931)
1997
47
Genomic organization of the human TIMP-1 gene. Investigation of a causative role in the pathogenesis of X-linked retinitis pigmentosa 2. (9286280)
1997
48
Prevalence of posterior vitreous detachment in retinitis pigmentosa. (7746622)
1995
49
Retinitis pigmentosa and related disorders: phenotypes of rhodopsin and peripherin/RDS mutations. (7747760)
1994
50
Doyne Lecture. Rhodopsin and autosomal dominant retinitis pigmentosa. (1358680)
1992

Variations for Retinitis Pigmentosa

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UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa:

64
id Symbol AA change Variation ID SNP ID
1AIPL1p.Cys239ArgVAR_010139
2AIPL1p.Arg270HisVAR_067165
3DHDDSp.Lys42GluVAR_065356
4RP1p.Asp202GluVAR_064182
5RP1p.Thr373IleVAR_064183rs77775126
6RP1p.Ala669ThrVAR_064468
7RP1p.Asp984GlyVAR_064471
8RP1p.Lys900AsnVAR_066951
9RP1p.Thr2113AsnVAR_066959rs137887415
10RP1p.Leu172ArgVAR_068351rs180729424

Clinvar genetic disease variations for Retinitis Pigmentosa:

6 (show all 245)
id Gene Name Type Significance SNP ID Assembly Location
1KLHL7NM_001031710.2(KLHL7): c.449G> A (p.Ser150Asn)single nucleotide variantPathogenicrs137853112GRCh37Chr 7, 23180394: 23180394
2KLHL7NM_001031710.2(KLHL7): c.458C> T (p.Ala153Val)single nucleotide variantPathogenicrs137853113GRCh37Chr 7, 23180403: 23180403
3C2orf71C2ORF71, TRP253TERsingle nucleotide variantPathogenic
4KLHL7NM_001031710.2(KLHL7): c.457G> A (p.Ala153Thr)single nucleotide variantPathogenicrs137853114GRCh37Chr 7, 23180402: 23180402
5OFD1OFD1, IVS9, A-G, +706single nucleotide variantPathogenic
6C2orf71NM_001029883.2(C2orf71): c.601A> T (p.Ile201Phe)single nucleotide variantPathogenicrs267606690GRCh37Chr 2, 29296527: 29296527
7C2orf71C2ORF71, 1-BP DEL, 946AdeletionPathogenic
8C2orf71NM_001029883.2(C2orf71): c.556C> T (p.Gln186Ter)single nucleotide variantPathogenicrs267606691GRCh37Chr 2, 29296572: 29296572
9C2orf71C2ORF71, 13-BP DEL, NT2756deletionPathogenic
10RP2NM_006915.2(RP2): c.16_18delTCC (p.Ser6del)deletionPathogenicrs137852284GRCh37Chr X, 46696551: 46696553
11RP2NM_006915.2(RP2): c.76C> T (p.Gln26Ter)single nucleotide variantPathogenicrs104894925GRCh37Chr X, 46696611: 46696611
12RP2NM_006915.2(RP2): c.353G> A (p.Arg118His)single nucleotide variantPathogenicrs28933687GRCh37Chr X, 46713161: 46713161
13RP2NM_006915.2(RP2): c.453C> G (p.Tyr151Ter)single nucleotide variantPathogenicrs104894926GRCh37Chr X, 46713261: 46713261
14RP2RP2, 1-BP DELdeletionPathogenic
15RP2NM_006915.2(RP2): c.353G> T (p.Arg118Leu)single nucleotide variantPathogenicrs28933687GRCh37Chr X, 46713161: 46713161
16RP2RP2, 1-BP INS, 303TinsertionPathogenic
17RP2NM_006915.2(RP2): c.358C> T (p.Arg120Ter)single nucleotide variantPathogenicrs104894927GRCh37Chr X, 46713166: 46713166
18PRCDNM_001077620.2(PRCD): c.5G> A (p.Cys2Tyr)single nucleotide variantPathogenicrs121918369GRCh37Chr 17, 74536228: 74536228
19SLC7A14NM_020949.2(SLC7A14): c.988G> A (p.Gly330Arg)single nucleotide variantPathogenicrs2276717GRCh37Chr 3, 170201230: 170201230
20SLC7A14NM_020949.2(SLC7A14): c.2122T> G (p.Phe708Val)single nucleotide variantPathogenicGRCh37Chr 3, 170185037: 170185037
21SLC7A14NM_020949.2(SLC7A14): c.1391G> T (p.Cys464Phe)single nucleotide variantPathogenicrs79668755GRCh37Chr 3, 170198680: 170198680
22SLC7A14NM_020949.2(SLC7A14): c.395C> T (p.Ala132Val)single nucleotide variantPathogenicGRCh37Chr 3, 170219044: 170219044
23KIZNM_018474.4(KIZ): c.226C> T (p.Arg76Ter)single nucleotide variantPathogenicrs202210819GRCh37Chr 20, 21117104: 21117104
24KIZNM_018474.4(KIZ): c.52G> T (p.Glu18Ter)single nucleotide variantPathogenicGRCh37Chr 20, 21106808: 21106808
25KIZNM_018474.4(KIZ): c.119_122delAACT (p.Lys40Ilefs)deletionPathogenicGRCh37Chr 20, 21112767: 21112770
26RHONM_000539.3(RHO): c.68C> A (p.Pro23His)single nucleotide variantPathogenicrs104893768GRCh37Chr 3, 129247644: 129247644
27RHONM_000539.3(RHO): c.1040C> T (p.Pro347Leu)single nucleotide variantPathogenicrs29001566GRCh37Chr 3, 129252554: 129252554
28RHONM_000539.3(RHO): c.1039C> T (p.Pro347Ser)single nucleotide variantPathogenicrs29001637GRCh37Chr 3, 129252553: 129252553
29RHONM_000539.3(RHO): c.173C> G (p.Thr58Arg)single nucleotide variantPathogenicrs28933394GRCh37Chr 3, 129247749: 129247749
30RHORHO, 3-BP DELdeletionPathogenic
31RHONM_000539.3(RHO): c.50C> T (p.Thr17Met)single nucleotide variantPathogenicrs104893769GRCh37Chr 3, 129247626: 129247626
32RHONM_000539.3(RHO): c.133T> C (p.Phe45Leu)single nucleotide variantPathogenicrs104893770GRCh37Chr 3, 129247709: 129247709
33RHONM_000539.3(RHO): c.260T> A (p.Val87Asp)single nucleotide variantPathogenicrs104893771GRCh37Chr 3, 129247836: 129247836
34RHONM_000539.3(RHO): c.266G> A (p.Gly89Asp)single nucleotide variantPathogenicrs104893772GRCh37Chr 3, 129247842: 129247842
35RHONM_000539.3(RHO): c.316G> T (p.Gly106Trp)single nucleotide variantPathogenicrs104893773GRCh37Chr 3, 129247892: 129247892
36RHONM_000539.3(RHO): c.568G> A (p.Asp190Asn)single nucleotide variantPathogenicrs104893779GRCh37Chr 3, 129251131: 129251131
37RHONM_000539.3(RHO): c.404G> T (p.Arg135Leu)single nucleotide variantPathogenicrs104893774GRCh37Chr 3, 129249761: 129249761
38RHONM_000539.3(RHO): c.533A> G (p.Tyr178Cys)single nucleotide variantPathogenicrs104893776GRCh37Chr 3, 129251096: 129251096
39RHONM_000539.3(RHO): c.569A> G (p.Asp190Gly)single nucleotide variantPathogenicrs104893777GRCh37Chr 3, 129251132: 129251132
40RHONM_000539.3(RHO): c.632A> C (p.His211Pro)single nucleotide variantPathogenicrs28933993GRCh37Chr 3, 129251195: 129251195
41RHONM_000539.3(RHO): c.403C> T (p.Arg135Trp)single nucleotide variantPathogenicrs104893775GRCh37Chr 3, 129249760: 129249760
42RHONM_000539.3(RHO): c.1030C> T (p.Gln344Ter)single nucleotide variantPathogenicrs104893778GRCh37Chr 3, 129252544: 129252544
43RHONM_000539.3(RHO): c.886A> G (p.Lys296Glu)single nucleotide variantPathogenicrs29001653GRCh37Chr 3, 129251565: 129251565
44RHORHO, 12-BP DEL, EX1deletionPathogenic
45RHONM_000539.3(RHO): c.1040C> G (p.Pro347Arg)single nucleotide variantPathogenicrs29001566GRCh37Chr 3, 129252554: 129252554
46RHONM_000539.3(RHO): c.544G> A (p.Gly182Ser)single nucleotide variantPathogenicrs104893780GRCh37Chr 3, 129251107: 129251107
47RHONM_000539.3(RHO): c.800C> T (p.Pro267Leu)single nucleotide variantPathogenicrs104893781GRCh37Chr 3, 129251479: 129251479
48RHONM_000539.3(RHO): c.329G> A (p.Cys110Tyr)single nucleotide variantPathogenicrs104893787GRCh37Chr 3, 129247905: 129247905
49RHONM_000539.3(RHO): c.158C> G (p.Pro53Arg)single nucleotide variantPathogenicrs28933395GRCh37Chr 3, 129247734: 129247734
50RHONM_000539.3(RHO): c.316G> A (p.Gly106Arg)single nucleotide variantPathogenicrs104893773GRCh37Chr 3, 129247892: 129247892
51RHORHO, IVS4, G-T, +1single nucleotide variantPathogenic
52RHONM_000539.3(RHO): c.568G> T (p.Asp190Tyr)single nucleotide variantPathogenicrs104893779GRCh37Chr 3, 129251131: 129251131
53RHONM_000539.3(RHO): c.44A> G (p.Asn15Ser)single nucleotide variantPathogenicrs104893786GRCh37Chr 3, 129247620: 129247620
54RHONM_000539.3(RHO): c.620T> G (p.Met207Arg)single nucleotide variantPathogenicrs104893782GRCh37Chr 3, 129251183: 129251183
55RHONM_000539.3(RHO): c.151G> C (p.Gly51Arg)single nucleotide variantPathogenicrs104893792GRCh37Chr 3, 129247727: 129247727
56RHONM_000539.3(RHO): c.341G> A (p.Gly114Asp)single nucleotide variantPathogenicrs104893788GRCh37Chr 3, 129247917: 129247917
57RHONM_000539.3(RHO): c.491C> A (p.Ala164Glu)single nucleotide variantPathogenicrs104893793GRCh37Chr 3, 129249848: 129249848
58RHONM_000539.3(RHO): c.511C> T (p.Pro171Ser)single nucleotide variantPathogenicrs104893794GRCh37Chr 3, 129249868: 129249868
59RHONM_000539.3(RHO): c.790_792delTGC (p.Cys264del)deletionPathogenicrs121918590GRCh37Chr 3, 129251469: 129251471
60RHONM_000539.3(RHO): c.1033G> C (p.Val345Leu)single nucleotide variantPathogenicrs104893795GRCh37Chr 3, 129252547: 129252547
61RHONM_000539.3(RHO): c.1040C> A (p.Pro347Gln)single nucleotide variantPathogenicrs29001566GRCh37Chr 3, 129252554: 129252554
62RHONM_000539.3(RHO): c.67C> G (p.Pro23Ala)single nucleotide variantPathogenicrs104893797GRCh37Chr 3, 129247643: 129247643
63RHONM_000539.3(RHO): c.1033G> A (p.Val345Met)single nucleotide variantPathogenicrs104893795GRCh37Chr 3, 129252547: 129252547
64PDE6GPDE6G, IVS3DS, G-T, +1single nucleotide variantPathogenic
65PDE6BNM_000283.3(PDE6B): c.892C> T (p.Gln298Ter)single nucleotide variantPathogenicrs121918579GRCh37Chr 4, 647908: 647908
66PDE6BNM_000283.3(PDE6B): c.1591C> T (p.Arg531Ter)single nucleotide variantPathogenicrs121918580GRCh37Chr 4, 654379: 654379
67PDE6BPDE6B, 1-BP DEL, NT17981deletionPathogenic
68PDE6BNM_000283.3(PDE6B): c.1669C> T (p.His557Tyr)single nucleotide variantPathogenicrs121918581GRCh37Chr 4, 655977: 655977
69PDE6BPDE6B, 71-BP DUPduplicationPathogenic
70PDE6BNM_000283.3(PDE6B): c.2419T> A (p.Trp807Arg)single nucleotide variantPathogenicrs121918583GRCh37Chr 4, 661711: 661711
71PDE6ANM_000440.2(PDE6A): c.1749C> G (p.Tyr583Ter)single nucleotide variantPathogenicrs121918576GRCh37Chr 5, 149265917: 149265917
72PDE6ANM_000440.2(PDE6A): c.1032C> A (p.Ser344Arg)single nucleotide variantPathogenicrs121918577GRCh37Chr 5, 149286908: 149286908
73PDE6ANM_000440.2(PDE6A): c.1683G> A (p.Trp561Ter)single nucleotide variantPathogenicrs121918578GRCh37Chr 5, 149274791: 149274791
74RPE65NM_000329.2(RPE65): c.271C> T (p.Arg91Trp)single nucleotide variantPathogenicrs61752871GRCh37Chr 1, 68910541: 68910541
75RPE65NM_000329.2(RPE65): c.1355T> G (p.Val452Gly)single nucleotide variantPathogenicrs62637004GRCh37Chr 1, 68896843: 68896843
76RPE65NM_000329.2(RPE65): c.1087C> A (p.Pro363Thr)single nucleotide variantPathogenicrs121917744GRCh37Chr 1, 68903911: 68903911
77RPE65NM_000329.2(RPE65): c.1022T> C (p.Leu341Ser)single nucleotide variantPathogenicrs61752909GRCh37Chr 1, 68903976: 68903976
78RPE65NM_000329.2(RPE65): c.394G> A (p.Ala132Thr)single nucleotide variantPathogenicrs61752878GRCh37Chr 1, 68910315: 68910315
79RPE65NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp)single nucleotide variantPathogenicrs121917745GRCh37Chr 1, 68895518: 68895518
80PRPH2NM_000322.4(PRPH2): c.352_354delTGC (p.Cys119del)deletionPathogenicrs121918561GRCh37Chr 6, 42689719: 42689721
81PRPH2NM_000322.4(PRPH2): c.655_657delCCA (p.Pro219del)deletionPathogenicrs121918562GRCh37Chr 6, 42672274: 42672276
82PRPH2NM_000322.4(PRPH2): c.647C> T (p.Pro216Leu)single nucleotide variantPathogenicrs61755806GRCh37Chr 6, 42672284: 42672284
83PRPH2PRPH2, 1-BP DEL, 1160TdeletionPathogenic
84PRPH2NM_000322.4(PRPH2): c.518A> T (p.Asp173Val)single nucleotide variantPathogenicrs61755794GRCh37Chr 6, 42689555: 42689555
85NRLNM_006177.3(NRL): c.148T> A (p.Ser50Thr)single nucleotide variantPathogenicrs104894459GRCh37Chr 14, 24551910: 24551910
86PDE6BNM_000283.3(PDE6B): c.1467+1G> Csingle nucleotide variantPathogenicGRCh37Chr 4, 652807: 652807
87PDE6BNM_000283.3(PDE6B): c.993-1G> Csingle nucleotide variantLikely pathogenicGRCh37Chr 4, 649728: 649728
88CNGB1NM_001297.4(CNGB1): c.217+5G> Csingle nucleotide variantLikely pathogenicGRCh38Chr 16, 57964482: 57964482
89PRPF31NM_015629.3(PRPF31): c.562G> T (p.Glu188Ter)single nucleotide variantLikely pathogenicrs527236094GRCh38Chr 19, 54123783: 54123783
90PRPF31NM_015629.3(PRPF31): c.764A> T (p.Gln255Leu)single nucleotide variantLikely pathogenicrs527236095GRCh38Chr 19, 54124565: 54124565
91IMPDH1NM_000883.3(IMPDH1): c.931G> A (p.Asp311Asn)single nucleotide variantPathogenicrs121912550GRCh37Chr 7, 128038611: 128038611
92IMPDH1NM_000883.3(IMPDH1): c.1057G> A (p.Val353Ile)single nucleotide variantPathogenicrs121912551GRCh37Chr 7, 128038485: 128038485
93IMPDH1NM_000883.3(IMPDH1): c.926G> C (p.Arg309Pro)single nucleotide variantPathogenicrs121912552GRCh37Chr 7, 128038616: 128038616
94TOPORSTOPORS, 1-BP INS, 2474AinsertionPathogenic
95TOPORSTOPORS, 2-BP DEL, 2552GAdeletionPathogenic
96NM_001142564.1(CNGA1): c.445G> T (p.Glu149Ter)single nucleotide variantPathogenicrs121909599GRCh37Chr 4, 47951911: 47951911
97NM_001142564.1(CNGA1): c.634A> T (p.Lys212Ter)single nucleotide variantPathogenicrs121909600GRCh37Chr 4, 47945220: 47945220
98NM_001142564.1(CNGA1): c.1166C> T (p.Ser389Phe)single nucleotide variantPathogenicrs62625014GRCh37Chr 4, 47939552: 47939552
99CNGA1CNGA1, 1-BP DEL, FS655TERdeletionPathogenic
100CA4NM_000717.3(CA4): c.40C> T (p.Arg14Trp)single nucleotide variantPathogenicrs104894559GRCh37Chr 17, 58227435: 58227435
101CA4NM_000717.3(CA4): c.655C> A (p.Arg219Ser)single nucleotide variantPathogenicrs121434551GRCh37Chr 17, 58235718: 58235718
102CA4NM_000717.3(CA4): c.206G> A (p.Arg69His)single nucleotide variantPathogenicrs121434552GRCh37Chr 17, 58234014: 58234014
103ARL6ARL6, ARG89VALsingle nucleotide variantPathogenic
104RDH12NM_152443.2(RDH12): c.377C> T (p.Ala126Val)single nucleotide variantPathogenicrs202126574GRCh37Chr 14, 68192801: 68192801
105USH2ANM_206933.2(USH2A): c.2276G> T (p.Cys759Phe)single nucleotide variantPathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
106USH2ANM_206933.2(USH2A): c.240_241insGATC (p.Gln81Aspfs)insertionPathogenicGRCh37Chr 1, 216595438: 216595439
107USH2ANM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly)single nucleotide variantPathogenicrs80338904GRCh37Chr 1, 215844427: 215844427
108CERKLNM_001030311.2(CERKL): c.847C> T (p.Arg283Ter)single nucleotide variantPathogenicrs121909398GRCh37Chr 2, 182423344: 182423344
109TTC8TTC8, IVS1AS, A-G, -2single nucleotide variantPathogenic
110BEST1NM_004183.3(BEST1): c.614T> C (p.Ile205Thr)single nucleotide variantPathogenicrs267606680GRCh37Chr 11, 61724448: 61724448
111BEST1NM_004183.3(BEST1): c.418C> G (p.Leu140Val)single nucleotide variantPathogenicrs267606678GRCh37Chr 11, 61723360: 61723360
112ZNF513NM_144631.5(ZNF513): c.1015T> C (p.Cys339Arg)single nucleotide variantPathogenicrs267607182GRCh37Chr 2, 27601023: 27601023
113MAKMAK, 353-BP ALU INS, EX9insertionPathogenic
114MAKMAK, GLY240TERsingle nucleotide variantPathogenic
115MAKNM_001242957.1(MAK): c.388A> C (p.Asn130His)single nucleotide variantPathogenicrs387906646GRCh37Chr 6, 10809146: 10809146
116MAKNM_001242957.1(MAK): c.37G> A (p.Gly13Ser)single nucleotide variantPathogenicrs387906647GRCh37Chr 6, 10830845: 10830845
117MAKNM_001242957.1(MAK): c.497G> A (p.Arg166His)single nucleotide variantPathogenicrs387906648GRCh37Chr 6, 10804119: 10804119
118RPE65NM_000329.2(RPE65): c.1102T> C (p.Tyr368His)single nucleotide variantPathogenicrs62653011GRCh37Chr 1, 68903896: 68903896
119RPE65RPE65, IVS1, G-A, +5single nucleotide variantPathogenic
120PDE6ANM_000440.2(PDE6A): c.2053G> A (p.Val685Met)single nucleotide variantPathogenicrs121909835GRCh37Chr 5, 149263074: 149263074
121CLRN1CLRN1, LEU154TRPsingle nucleotide variantPathogenic
122CLRN1NM_001195794.1(CLRN1): c.92C> T (p.Pro31Leu)single nucleotide variantPathogenicrs374390376GRCh37Chr 3, 150690404: 150690404
123PRPF8NM_006445.3(PRPF8): c.6353C> T (p.Ser2118Phe)single nucleotide variantPathogenicrs387906971GRCh37Chr 17, 1556852: 1556852
124PRPF8PRPF8, ARG2310SERsingle nucleotide variantPathogenic
125DHDDSNM_024887.3(DHDDS): c.124A> G (p.Lys42Glu)single nucleotide variantPathogenicrs147394623GRCh37Chr 1, 26764719: 26764719
126PRPF6NM_012469.3(PRPF6): c.2185C> T (p.Arg729Trp)single nucleotide variantPathogenicrs387907100GRCh37Chr 20, 62658491: 62658491
127RP9NM_203288.1(RP9): c.509A> G (p.Asp170Gly)single nucleotide variantPathogenicrs104894039GRCh37Chr 7, 33135003: 33135003
128PRPF3NM_004698.2(PRPF3): c.1481C> T (p.Thr494Met)single nucleotide variantPathogenicrs121434241GRCh37Chr 1, 150316692: 150316692
129PRPF3NM_004698.2(PRPF3): c.1477C> T (p.Pro493Ser)single nucleotide variantPathogenicrs121434242GRCh37Chr 1, 150316688: 150316688
130PRPF3NM_004698.2(PRPF3): c.1466C> A (p.Ala489Asp)single nucleotide variantPathogenicrs121434243GRCh37Chr 1, 150316677: 150316677
131PRPF8NM_006445.3(PRPF8): c.6926A> G (p.His2309Arg)single nucleotide variantPathogenicrs121434236GRCh37Chr 17, 1554178: 1554178
132PRPF8NM_006445.3(PRPF8): c.6926A> C (p.His2309Pro)single nucleotide variantPathogenicrs121434236GRCh37Chr 17, 1554178: 1554178
133PRPF8NM_006445.3(PRPF8): c.6929G> A (p.Arg2310Lys)single nucleotide variantPathogenicrs121434238GRCh37Chr 17, 1554175: 1554175
134PRPF8NM_006445.3(PRPF8): c.6901C> A (p.Pro2301Thr)single nucleotide variantPathogenicrs121434239GRCh37Chr 17, 1554203: 1554203
135PRPF8NM_006445.3(PRPF8): c.6912C> G (p.Phe2304Leu)single nucleotide variantPathogenicrs121434240GRCh37Chr 17, 1554192: 1554192
136SEMA4ANM_001193301.1(SEMA4A): c.2138G> A (p.Arg713Gln)single nucleotide variantPathogenicrs41265017GRCh37Chr 1, 156146640: 156146640
137FAM161ANM_001201543.1(FAM161A): c.685C> T (p.Arg229Ter)single nucleotide variantPathogenicrs267606794GRCh37Chr 2, 62067454: 62067454
138IMPG2NM_016247.3(IMPG2): c.635C> G (p.Ser212Ter)single nucleotide variantPathogenicrs267606874GRCh37Chr 3, 100994538: 100994538
139IMPG2IMPG2, 1,850-BP DELdeletionPathogenic
140IMPG2NM_016247.3(IMPG2): c.2716C> T (p.Arg906Ter)single nucleotide variantPathogenicrs267606876GRCh37Chr 3, 100962459: 100962459
141IMPG2NM_016247.3(IMPG2): c.2890C> T (p.Arg964Ter)single nucleotide variantPathogenicrs267606875GRCh37Chr 3, 100961664: 100961664
142FAM161ANM_001201543.1(FAM161A): c.1309A> T (p.Arg437Ter)single nucleotide variantPathogenicrs200691042GRCh37Chr 2, 62066830: 62066830
143FAM161ANM_001201543.1(FAM161A): c.1355_1356delCA (p.Thr452Serfs)deletionPathogenicrs397704718GRCh37Chr 2, 62066783: 62066784
144PRCDNM_001077620.2(PRCD): c.64C> T (p.Arg22Ter)single nucleotide variantPathogenicrs387907268GRCh37Chr 17, 74536287: 74536287
145MERTKMERTK, 9-KB DELdeletionPathogenic
146MERTKMERTK, IVS1, G-A, +1single nucleotide variantPathogenic
147MERTKMERTK, 91-KB DELdeletionPathogenic
148MERTKNM_006343.2(MERTK): c.2323C> T (p.Arg775Ter)single nucleotide variantPathogenicrs387907314GRCh37Chr 2, 112779132: 112779132
149FAM161ANM_001201543.1(FAM161A): c.1567C> T (p.Arg523Ter)single nucleotide variantPathogenicrs202193201GRCh37Chr 2, 62066572: 62066572
150FAM161ANM_001201543.1(FAM161A): c.1786C> T (p.Arg596Ter)single nucleotide variantPathogenicrs267606793GRCh37Chr 2, 62063210: 62063210
151USH2ANM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)deletionPathogenicrs80338903GRCh37Chr 1, 216420437: 216420437
152NRLNM_006177.3(NRL): c.287T> C (p.Met96Thr)single nucleotide variantPathogenicrs397514516GRCh37Chr 14, 24551771: 24551771
153CRB1NM_201253.2(CRB1): c.2843G> A (p.Cys948Tyr)single nucleotide variantPathogenicrs62645748GRCh37Chr 1, 197403836: 197403836
154SNRNP200NM_014014.4(SNRNP200): c.3269G> T (p.Arg1090Leu)single nucleotide variantPathogenicrs397514574GRCh37Chr 2, 96953697: 96953697
155SNRNP200NM_014014.4(SNRNP200): c.2653C> G (p.Gln885Glu)single nucleotide variantPathogenicrs397514575GRCh37Chr 2, 96956153: 96956153
156PRPF31NM_015629.3(PRPF31): c.1115_1125delGGAAGCAGGCC (p.Arg372Glnfs)deletionPathogenicGRCh38Chr 19, 54128346: 54128356
157PRPF31NM_015629.3(PRPF31): c.646G> C (p.Ala216Pro)single nucleotide variantPathogenicrs119475042GRCh37Chr 19, 54627246: 54627246
158PRPF31NM_015629.3(PRPF31): c.527+3A> Gsingle nucleotide variantPathogenicGRCh38Chr 19, 54123563: 54123563
159PRPF31PRPF31, IVS6AS, 42-BP DEL, -3deletionPathogenic
160PRPF31NM_015629.3(PRPF31): c.581C> A (p.Ala194Glu)single nucleotide variantPathogenicrs119475043GRCh37Chr 19, 54627181: 54627181
161PRPF31PRPF31, 33-BP INS, NT580insertionPathogenic
162PRPF31PRPF31, 1-BP INS, 769AinsertionPathogenic
163PRPF31PRPF31, 12-BP DELdeletionPathogenic
164PRPF31NM_015629.3(PRPF31): c.1374+654C> Gsingle nucleotide variantPathogenicGRCh38Chr 19, 54130024: 54130024
165USH2ANM_206933.2(USH2A): c.8559-2A> Gsingle nucleotide variantPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
166RBP3NM_002900.2(RBP3): c.3238G> A (p.Asp1080Asn)single nucleotide variantPathogenicrs146150511GRCh37Chr 10, 48385854: 48385854
167EYSEYS, 17-BP DEL, NT2710deletionPathogenic
168EYSEYS, EX15-19 DELdeletionPathogenic
169EYSEYS, EX12 DELdeletionPathogenic
170EYSNM_001142800.1(EYS): c.5857G> T (p.Glu1953Ter)single nucleotide variantPathogenicrs137853189GRCh37Chr 6, 65146137: 65146137
171EYSNM_001142800.1(EYS): c.9405T> A (p.Tyr3135Ter)single nucleotide variantPathogenicrs137853190GRCh37Chr 6, 64430522: 64430522
172EYSEYS, 1-BP DELETION, 6714TdeletionPathogenic
173MERTKMERTK, 5-BP DEL, NT2070deletionPathogenic
174MERTKMERTK, IVS10AS, A-G, -2single nucleotide variantPathogenic
175MERTKNM_006343.2(MERTK): c.1951C> T (p.Arg651Ter)single nucleotide variantPathogenicrs119489105GRCh37Chr 2, 112766043: 112766043
176MERTKMERTK, IVS16DS, G-T, +1single nucleotide variantPathogenic
177IDH3BIDH3B, 1-BP DEL, 589AdeletionPathogenic
178IDH3BNM_006899.3(IDH3B): c.395T> C (p.Leu132Pro)single nucleotide variantPathogenicrs137853020GRCh37Chr 20, 2641558: 2641558
179NR2E3NM_014249.3(NR2E3): c.166G> A (p.Gly56Arg)single nucleotide variantPathogenicrs121912631GRCh37Chr 15, 72103870: 72103870
180NR2E3NR2E3, 5-BP DEL, NT1034deletionPathogenic
181AIPL1NM_014336.4(AIPL1): c.834G> A (p.Trp278Ter)single nucleotide variantPathogenicrs62637014GRCh37Chr 17, 6329101: 6329101
182AIPL1NM_014336.4(AIPL1): c.1010_1011delAG (p.Glu337Alafs)deletionPathogenicrs62637016GRCh37Chr 17, 6328924: 6328925
183AIPL1NM_014336.4(AIPL1): c.715T> C (p.Cys239Arg)single nucleotide variantPathogenicrs62637012GRCh37Chr 17, 6330004: 6330004
184PROM1PROM1, 1-BP DEL, 1878GdeletionPathogenic
185PROM1NM_006017.2(PROM1): c.1726C> T (p.Gln576Ter)single nucleotide variantPathogenicrs137853005GRCh37Chr 4, 15995651: 15995651
186CRB1CRB1, ALU INS, NT2320insertionPathogenic
187CRB1NM_201253.2(CRB1): c.3122T> C (p.Met1041Thr)single nucleotide variantPathogenicrs62635656GRCh37Chr 1, 197404115: 197404115
188CRB1NM_201253.2(CRB1): c.2983G> T (p.Glu995Ter)single nucleotide variantPathogenicrs62635655GRCh37Chr 1, 197403976: 197403976
189CRB1NM_201253.2(CRB1): c.2290C> T (p.Arg764Cys)single nucleotide variantPathogenicrs62635654GRCh37Chr 1, 197396745: 197396745
190CRB1NM_201253.2(CRB1): c.2234C> T (p.Thr745Met)single nucleotide variantPathogenicrs28939720GRCh37Chr 1, 197396689: 197396689
191CRB1NM_201253.2(CRB1): c.2401A> T (p.Lys801Ter)single nucleotide variantPathogenicrs137853137GRCh37Chr 1, 197396856: 197396856
192CRB1NM_201253.2(CRB1): c.3541T> C (p.Cys1181Arg)single nucleotide variantPathogenicrs62636291GRCh37Chr 1, 197404534: 197404534
193CRB1NM_201253.2(CRB1): c.3307G> A (p.Gly1103Arg)single nucleotide variantPathogenicrs62636275GRCh37Chr 1, 197404300: 197404300
194CRB1CRB1, 10-BP DEL, NT4121deletionPathogenic
195RP1NM_006269.1(RP1): c.2029C> T (p.Arg677Ter)single nucleotide variantPathogenicrs104894082GRCh37Chr 8, 55538471: 55538471
196RP1RP1, 5-BP DELdeletionPathogenic
197RP1RP1, 4-BP DELdeletionPathogenic
198RP1NM_006269.1(RP1): c.2035C> T (p.Gln679Ter)single nucleotide variantPathogenicrs104894083GRCh37Chr 8, 55538477: 55538477
199RP1NM_006269.1(RP1): c.1118C> T (p.Thr373Ile)single nucleotide variantPathogenicrs77775126GRCh37Chr 8, 55537560: 55537560
200RP1RP1, 4-BP INS, 1461TGAAinsertionPathogenic
201ARL2BPARL2BP, IVS2AS, G-C, -1single nucleotide variantPathogenic
202AIPL1NM_014336.4(AIPL1): c.1126C> T (p.Pro376Ser)single nucleotide variantPathogenicrs61757484GRCh37Chr 17, 6328809: 6328809
203AIPL1NM_014336.4(AIPL1): c.589G> C (p.Ala197Pro)single nucleotide variantPathogenicrs62637010GRCh37Chr 17, 6330254: 6330254
204AIPL1NM_014336.4(AIPL1): c.617T> A (p.Ile206Asn)single nucleotide variantPathogenicrs62637011GRCh37Chr 17, 6330226: 6330226
205AIPL1NM_014336.4(AIPL1): c.784G> A (p.Gly262Ser)single nucleotide variantPathogenicrs142326926GRCh37Chr 17, 6329935: 6329935
206AIPL1NM_014336.4(AIPL1): c.905G> T (p.Arg302Leu)single nucleotide variantPathogenicrs62637015GRCh37Chr 17, 6329030: 6329030
207TULP1NM_003322.4(TULP1): c.1259G> C (p.Arg420Pro)single nucleotide variantPathogenicrs121909073GRCh37Chr 6, 35471400: 35471400
208TULP1NM_003322.4(TULP1): c.1471T> C (p.Phe491Leu)single nucleotide variantPathogenicrs121909074GRCh37Chr 6, 35467782: 35467782
209TULP1NM_003322.4(TULP1): c.1376T> A (p.Ile459Lys)single nucleotide variantPathogenicrs121909075GRCh37Chr 6, 35467877: 35467877
210TULP1TULP1, IVS2DS, G-A, +1single nucleotide variantPathogenic
211TULP1TULP1, IVS14DS, G-A, +1single nucleotide variantPathogenic
212TULP1NM_003322.4(TULP1): c.1145T> C (p.Phe382Ser)single nucleotide variantPathogenicrs121909076GRCh37Chr 6, 35471593: 35471593
213TULP1NM_003322.4(TULP1): c.1444C> T (p.Arg482Trp)single nucleotide variantPathogenicrs121909077GRCh37Chr 6, 35467809: 35467809
214TULP1TULP1, 11-BP DEL, NT1511deletionPathogenic
215TULP1TULP1, IVS7, T-C, +2single nucleotide variantPathogenic
216GUCA1BNM_002098.5(GUCA1B): c.469G> A (p.Gly157Arg)single nucleotide variantPathogenicrs121909124GRCh37Chr 6, 42153424: 42153424
217ABCA4NM_000350.2(ABCA4): c.1848delA (p.Glu616Aspfs)deletionPathogenicrs387906386GRCh37Chr 1, 94528222: 94528222
218SNRNP200NM_014014.4(SNRNP200): c.3260C> T (p.Ser1087Leu)single nucleotide variantPathogenicrs267607077GRCh37Chr 2, 96953706: 96953706
219CNGB1NM_001297.4(CNGB1): c.2978G> T (p.Gly993Val)single nucleotide variantPathogenicrs121918532GRCh37Chr 16, 57931817: 57931817
220CNGB1CNGB1, IVS32, G-A, +1single nucleotide variantPathogenic
221RPGRNM_001034853.1(RPGR): c.2405_2406delAG (p.Glu802Glyfs)deletionPathogenicrs398122960GRCh37Chr X, 38145846: 38145847
222NEK2NM_001204182.1(NEK2): c.617_624delTGTATGAGinsA (p.Leu206Hisfs)indelPathogenicrs398122961GRCh37Chr 1, 211844558: 211844565
223CERKLNM_001030311.2(CERKL): c.420delT (p.Ile141Leufs)deletionPathogenicrs398122962GRCh37Chr 2, 182468625: 182468625
224CERKLNM_001030311.2(CERKL): c.598A> T (p.Lys200Ter)single nucleotide variantPathogenicrs398122963GRCh37Chr 2, 182438495: 182438495
225CERKLNM_001030311.2(CERKL): c.858delT (p.Pro287Leufs)deletionPathogenicrs398122964GRCh37Chr 2, 182423333: 182423333
226RGRNM_002921.3(RGR): c.196A> C (p.Ser66Arg)single nucleotide variantPathogenicrs104894187GRCh37Chr 10, 86007463: 86007463
227RGRRGR, 1-BP INSinsertionPathogenic
228PRPH2NM_000322.4(PRPH2): c.736T> C (p.Trp246Arg)single nucleotide variantPathogenicrs61755817GRCh37Chr 6, 42672195: 42672195
229RPGRNM_000328.2(RPGR): c.469+1G> Asingle nucleotide variantLikely pathogenicrs62638646GRCh37Chr X, 38178081: 38178081
230RPE65NM_000329.2(RPE65): c.118G> A (p.Gly40Ser)single nucleotide variantPathogenicrs61751281GRCh37Chr 1, 68912520: 68912520
231RPGRNM_000328.2(RPGR): c.389T> G (p.Phe130Cys)single nucleotide variantPathogenicrs62638644GRCh37Chr X, 38178162: 38178162
232RPGRNM_000328.2(RPGR): c.703C> T (p.Pro235Ser)single nucleotide variantPathogenicrs62638651GRCh37Chr X, 38169943: 38169943
233RPGRNM_000328.2(RPGR): c.823G> A (p.Gly275Ser)single nucleotide variantPathogenicrs62642057GRCh37Chr X, 38163999: 38163999
234RPGRRPGR, 4-BP DEL, NT1433deletionPathogenic
235RPGRRPGR, IVS10DS, A-G, +3single nucleotide variantPathogenic
236RPGRNM_000328.2(RPGR): c.179G> T (p.Gly60Val)single nucleotide variantPathogenicrs62638634GRCh37Chr X, 38182174: 38182174
237RPGRRPGR, 2-BP DEL, 652AGdeletionPathogenic
238RPGRRPGR, 2-BP DEL, NT1571deletionPathogenic
239RPGRRPGR, EX15ADELdeletionPathogenic
240RPGRNM_000328.2(RPGR): c.296C> A (p.Thr99Asn)single nucleotide variantPathogenicrs62638637GRCh37Chr X, 38180294: 38180294
241RPGRRPGR, 2-BP DEL, 673AGdeletionPathogenic
242RPGRNM_001034853.1(RPGR): c.2650G> T (p.Glu884Ter)single nucleotide variantPathogenicrs137852549GRCh37Chr X, 38145602: 38145602
243RPGRRPGR, 1-BP INS, 173AinsertionPathogenic
244RPGRRPGR, 912G-Tsingle nucleotide variantPathogenic
245RPGRRPGR, IVS9AS, G-A, -55single nucleotide variantPathogenic

Expression for genes affiliated with Retinitis Pigmentosa

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Expression patterns in normal tissues for genes affiliated with Retinitis Pigmentosa

Search GEO for disease gene expression data for Retinitis Pigmentosa.

Pathways for genes affiliated with Retinitis Pigmentosa

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Compounds for genes affiliated with Retinitis Pigmentosa

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Sources:
44Novoseek, 24HMDB, 11DrugBank
See all sources

Compounds related to Retinitis Pigmentosa according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vitamin a44 24 1112.5RDH12, RBP3, AIPL1

GO Terms for genes affiliated with Retinitis Pigmentosa

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Cellular components related to Retinitis Pigmentosa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1centrosomeGO:00581310.5NEK2, UNC119, MAK, OFD1, ARL2BP
2intercellular bridgeGO:04517110.5NEK2, UNC119
3midbodyGO:03049610.4MAK, NEK2, ARL2BP
4photoreceptor inner segmentGO:00191710.4AIPL1, MAK
5photoreceptor outer segmentGO:00175010.2MAK, PROM1

Biological processes related to Retinitis Pigmentosa according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:00760110.5ARL6, AIPL1, GPR98, UNC119, CLRN1, PRCD
2phototransduction, visible lightGO:00760310.5AIPL1, PDE6G, RBP3, RDH12
3photoreceptor cell maintenanceGO:04549410.5MAK, PROM1, CLRN1, GPR98, RDH12
4phototransductionGO:00760210.5NR2E3, UNC119
5response to stimulusGO:05089610.4CLRN1, PRCD, CRX
6sensory perception of light stimulusGO:05095310.3CLRN1, GPR98
7spindle assembly involved in mitosisGO:09030710.1OFD1, NEK2

Molecular functions related to Retinitis Pigmentosa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription coactivator activityGO:00371310.4PRPF6, MAK, ARL2BP
2protein bindingGO:00551510.1AIPL1, GPR98, UNC119, NEK2, PRPF6, PROM1

Products for genes affiliated with Retinitis Pigmentosa

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  • Antibodies
  • Proteins
  • Lysates

Sources for Retinitis Pigmentosa

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet