RP1
MCID: RTN172
MIFTS: 46

Retinitis Pigmentosa 1 (RP1)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 1

MalaCards integrated aliases for Retinitis Pigmentosa 1:

Name: Retinitis Pigmentosa 1 58 12 54 76 30 13 56 6 15 74
Rp1 58 12 54 76
Retinitis Pigmentosa, Type 1 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
genetic heterogeneity (see )
dominant inheritance form(s) in 3 to 4% of cases



Classifications:



External Ids:

Disease Ontology 12 DOID:0110390
OMIM 58 180100
MeSH 45 D012174
ICD10 34 H35.5
MedGen 43 C0220701
UMLS 74 C0220701

Summaries for Retinitis Pigmentosa 1

UniProtKB/Swiss-Prot : 76 Retinitis pigmentosa 1: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

MalaCards based summary : Retinitis Pigmentosa 1, also known as rp1, is related to leber congenital amaurosis and fundus dystrophy. An important gene associated with Retinitis Pigmentosa 1 is RP1 (RP1 Axonemal Microtubule Associated). The drugs nivolumab and Adapalene have been mentioned in the context of this disorder. Affiliated tissues include bone, prostate and retina, and related phenotypes are myopia and nyctalopia

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the RP1 gene on chromosome 8q12.

Description from OMIM: 180100

Related Diseases for Retinitis Pigmentosa 1

Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 1 Retinitis Pigmentosa 9
Retinitis Pigmentosa 10 Retinitis Pigmentosa, Late-Adult Onset
Retinitis Pigmentosa 3 Retinitis Pigmentosa 24
Retinitis Pigmentosa 23 Retinitis Pigmentosa 34
Retinitis Pigmentosa 2 Retinitis Pigmentosa 6
Retinitis Pigmentosa 13 Retinitis Pigmentosa 12
Retinitis Pigmentosa 14 Retinitis Pigmentosa 11
Retinitis Pigmentosa 17 Retinitis Pigmentosa 18
Retinitis Pigmentosa 19 Retinitis Pigmentosa 22
Retinitis Pigmentosa 25 Retinitis Pigmentosa 28
Retinitis Pigmentosa 30 Retinitis Pigmentosa 7
Retinitis Pigmentosa 26 Retinitis Pigmentosa 32
Retinitis Pigmentosa 31 Retinitis Pigmentosa 35
Retinitis Pigmentosa 33 Retinitis Pigmentosa 36
Retinitis Pigmentosa 37 Retinitis Pigmentosa 41
Retinitis Pigmentosa 29 Retinitis Pigmentosa 46
Retinitis Pigmentosa 42 Retinitis Pigmentosa 50
Retinitis Pigmentosa 54 Retinitis Pigmentosa 51
Retinitis Pigmentosa 55 Retinitis Pigmentosa 56
Retinitis Pigmentosa 57 Retinitis Pigmentosa 58
Retinitis Pigmentosa 4 Retinitis Pigmentosa 27
Retinitis Pigmentosa 49 Retinitis Pigmentosa 47
Retinitis Pigmentosa 45 Retinitis Pigmentosa 44
Retinitis Pigmentosa 20 Retinitis Pigmentosa 40
Retinitis Pigmentosa 39 Retinitis Pigmentosa 43
Retinitis Pigmentosa 48 Retinitis Pigmentosa 59
Retinitis Pigmentosa 38 Retinitis Pigmentosa 60
Retinitis Pigmentosa 61 Retinitis Pigmentosa 62
Retinitis Pigmentosa 63 Retinitis Pigmentosa 66
Retinitis Pigmentosa 67 Retinitis Pigmentosa 68
Retinitis Pigmentosa 69 Retinitis Pigmentosa 70
Retinitis Pigmentosa 71 Retinitis Pigmentosa 72
Retinitis Pigmentosa 73 Retinitis Pigmentosa 74
Retinitis Pigmentosa 75 Retinitis Pigmentosa 76
Retinitis Pigmentosa 77 Retinitis Pigmentosa 78
Retinitis Pigmentosa 79 Retinitis Pigmentosa 80
Retinitis Pigmentosa 81 Retinitis Pigmentosa 83
Retinitis Pigmentosa 84 Retinitis Pigmentosa 85
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 30.8 IFT140 PRPH2 RHO
2 fundus dystrophy 30.5 IFT140 PRPH2 RHO RP1
3 retinitis pigmentosa 30.5 DCX IFT140 PRPH2 RHO RP1 RP1L1
4 retinal degeneration 29.7 PRPH2 RHO
5 cone-rod dystrophy 2 29.7 PRPH2 RHO
6 retinitis 29.2 PRPH2 RHO RP1 RP1L1
7 cone-rod dystrophy 1 11.5
8 leber congenital amaurosis 1 11.2
9 leber congenital amaurosis 4 10.1
10 breast cancer 10.1
11 hypertriglyceridemia, familial 10.1
12 familial adenomatous polyposis 10.1
13 cone dystrophy 10.1
14 radin blood group antigen 10.0
15 colorectal cancer 10.0
16 retinitis pigmentosa 10 10.0
17 bardet-biedl syndrome 1 10.0
18 retinitis pigmentosa 4 10.0
19 myopia 10.0
20 adenocarcinoma 10.0
21 gastric adenocarcinoma 10.0
22 familial isolated pituitary adenoma 10.0
23 occult macular dystrophy 10.0 DCX RP1L1
24 stargardt macular degeneration 9.8 PRPH2 RHO
25 retinitis pigmentosa 7 9.8 PRPH2 RHO
26 fundus albipunctatus 9.8 PRPH2 RHO
27 stargardt disease 9.7 PRPH2 RHO
28 retinal disease 9.7 PRPH2 RHO
29 macular degeneration, age-related, 1 9.5 PRPH2 RHO

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 1:



Diseases related to Retinitis Pigmentosa 1

Symptoms & Phenotypes for Retinitis Pigmentosa 1

Human phenotypes related to Retinitis Pigmentosa 1:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 myopia 33 HP:0000545
2 nyctalopia 33 HP:0000662
3 rod-cone dystrophy 33 HP:0000510
4 constriction of peripheral visual field 33 HP:0001133
5 undetectable light- and dark-adapted electroretinogram 33 HP:0007688
6 bone spicule pigmentation of the retina 33 HP:0007737

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
night blindness
retinitis pigmentosa
constricted visual fields
retinal 'bone corpuscle' pigmentation
myopia, moderate

Laboratory Abnormalities:
absent cone and rod functions by electroretinogram (erg)

Clinical features from OMIM:

180100

MGI Mouse Phenotypes related to Retinitis Pigmentosa 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.43 DCX IFT140 PRPH2 RHO RP1 RP1L1
2 vision/eye MP:0005391 9.02 IFT140 PRPH2 RHO RP1 RP1L1

Drugs & Therapeutics for Retinitis Pigmentosa 1

Drugs for Retinitis Pigmentosa 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
nivolumab Approved Phase 1, Phase 2 946414-94-4
2
Adapalene Approved Phase 1, Phase 2 106685-40-9 60164
3 Immunoglobulins Phase 1, Phase 2
4 Antineoplastic Agents, Immunological Phase 1, Phase 2
5 Antibodies, Monoclonal Phase 1, Phase 2
6 Antibodies Phase 1, Phase 2
7
Acetylcysteine Approved, Investigational Phase 1 616-91-1 12035
8
Aspirin Approved, Vet_approved Phase 1 50-78-2 2244
9
Ipilimumab Approved Phase 1 477202-00-9
10
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
11 Antidotes Phase 1
12 Expectorants Phase 1
13 Antioxidants Phase 1
14 Anti-Infective Agents Phase 1
15 cysteine Phase 1
16 Protective Agents Phase 1
17 Respiratory System Agents Phase 1
18 Antiviral Agents Phase 1
19 N-monoacetylcystine Phase 1
20 Free Radical Scavengers Phase 1
21 Analgesics, Non-Narcotic Phase 1
22 Antipyretics Phase 1
23 Cyclooxygenase Inhibitors Phase 1
24 Peripheral Nervous System Agents Phase 1
25 Analgesics Phase 1
26 Alkylating Agents Phase 1
27 Histamine H2 Antagonists Phase 1
28 Immunologic Factors Phase 1
29 Immunosuppressive Agents Phase 1
30 Anti-Inflammatory Agents Phase 1
31 Fibrinolytic Agents Phase 1
32 Antirheumatic Agents Phase 1
33 Anti-Inflammatory Agents, Non-Steroidal Phase 1
34 Platelet Aggregation Inhibitors Phase 1
35 Antineoplastic Agents, Alkylating Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of RP1 Monotherapy and RP1 in Combination With Nivolumab Recruiting NCT03767348 Phase 1, Phase 2
2 Autologous Bone Marrow-Derived CD34+, CD133+, and CD271+ Stem Cell Transplantation for Retinitis Pigmentosa Active, not recruiting NCT02709876 Phase 1, Phase 2
3 The FIGHT-RP1 Study Completed NCT03063021 Phase 1 N-Acetyl Cysteine (NAC)
4 A Study of AMG 557 in Adults With Systemic Lupus Erythematosus Completed NCT00774943 Phase 1 AMG 557
5 RACIN in Patients With Advanced TIL-negative Solid Tumors Recruiting NCT03728179 Phase 1
6 Idylla IFV-RSV Panel Clinical Testing Completed NCT02786381

Search NIH Clinical Center for Retinitis Pigmentosa 1

Genetic Tests for Retinitis Pigmentosa 1

Genetic tests related to Retinitis Pigmentosa 1:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 1 30 RP1

Anatomical Context for Retinitis Pigmentosa 1

MalaCards organs/tissues related to Retinitis Pigmentosa 1:

42
Bone, Prostate, Retina, Testes, Eye, Colon, Pituitary

Publications for Retinitis Pigmentosa 1

Articles related to Retinitis Pigmentosa 1:

(show top 50) (show all 190)
# Title Authors Year
1
KLF5 regulated lncRNA RP1 promotes the growth and metastasis of breast cancer via repressing p27kip1 translation. ( 31073122 )
2019
2
A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family. ( 30820140 )
2019
3
Expression of IGFBP-rP1 in ovarian and breast cancers in association with diabetes mellitus status. ( 31025635 )
2019
4
Clinical significance of serum DRAM1 mRNA, ARSA mRNA, hsa-miR-2053 and lncRNA-RP1-86D1.3 axis expression in malignant pleural mesothelioma. ( 30362153 )
2019
5
Generation of an induced pluripotent stem cell line from a patient with retinitis pigmentosa caused by RP1 mutation. ( 31059986 )
2019
6
Expanding the retinal phenotype of RP1: from retinitis pigmentosa to a novel and singular macular dystrophy. ( 31079053 )
2019
7
Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum. ( 30913292 )
2019
8
The location of exon 4 mutations in RP1 raises challenges for genetic counselling and gene therapy. ( 30731082 )
2019
9
IGFBP-rP1, a strongly conserved member of the androgenic hormone signalling pathway in Isopoda. ( 30448382 )
2019
10
Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa. ( 30027431 )
2018
11
Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa. ( 29425069 )
2018
12
Bioinformatics-based analysis of the involvement of AC005550.3, RP11-415D17.3, and RP1-140K8.5 in homocysteine-induced vascular endothelial injury. ( 30093949 )
2018
13
Analysis of Extreme Phenotype Bulk Copy Number Variation (XP-CNV) Identified the Association of rp1 with Resistance to Goss's Wilt of Maize. ( 29479358 )
2018
14
IGFBP-rP1 acts as a potential tumor suppressor via the suppression of ERK signaling pathway in endometrial cancer cells. ( 29067463 )
2017
15
A reverse genetic approach identifies an ancestral frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breeds. ( 27510606 )
2016
16
Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases. ( 27307693 )
2016
17
RP1-13D10.2 Is a Novel Modulator of Statin-Induced Changes in Cholesterol. ( 27071970 )
2016
18
Maize Homologs of CCoAOMT and HCT, Two Key Enzymes in Lignin Biosynthesis, Form Complexes with the NLR Rp1 Protein to Modulate the Defense Response. ( 27208251 )
2016
19
A potential biomarker for colorectal cancer: long non-coding RNA RP1-13P20.6. ( 27596299 )
2016
20
Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy. ( 25692139 )
2015
21
Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia. ( 25883087 )
2015
22
IGFBP-rP1 suppresses epithelial-mesenchymal transition and metastasis in colorectal cancer. ( 25789970 )
2015
23
Diversity and evolution of Rp1 rust resistance genes in four maize lines. ( 25805314 )
2015
24
The effects of recombination, mutation and selection on the evolution of the Rp1 resistance genes in grasses. ( 25907026 )
2015
25
Cytoplasmic and Nuclear Localizations Are Important for the Hypersensitive Response Conferred by Maize Autoactive Rp1-D21 Protein. ( 26039083 )
2015
26
Maize Homologs of Hydroxycinnamoyltransferase, a Key Enzyme in Lignin Biosynthesis, Bind the Nucleotide Binding Leucine-Rich Repeat Rp1 Proteins to Modulate the Defense Response. ( 26373661 )
2015
27
A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration. ( 25088982 )
2014
28
Ginsenoside-Rp1-induced apolipoprotein A-1 expression in the LoVo human colon cancer cell line. ( 25379004 )
2014
29
Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree. ( 25494902 )
2014
30
Identification of a novel p.R1443W mutation in RP1 gene associated with retinitis pigmentosa sine pigmento. ( 23991373 )
2013
31
Serum insulin-like, growth factor binding protein-related protein 1 (IGFBP-rP1) and endometrial cancer risk in Chinese women. ( 22544761 )
2013
32
Lipid raft modulation by Rp1 reverses multidrug resistance via inactivating MDR-1 and Src inhibition. ( 23473805 )
2013
33
Restoration of IGFBP-rP1 increases radiosensitivity and chemosensitivity in hormone-refractory human prostate cancer. ( 23600329 )
2013
34
RP1 is a phosphorylation target of CK2 and is involved in cell adhesion. ( 23844040 )
2013
35
Characterization of temperature and light effects on the defense response phenotypes associated with the maize Rp1-D21 autoactive resistance gene. ( 23890100 )
2013
36
RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation. ( 22052604 )
2012
37
Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype. ( 22927954 )
2012
38
Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis. ( 22917891 )
2012
39
Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family. ( 23077400 )
2012
40
RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism. ( 22317909 )
2012
41
A molecular case report of autosomal dominant retinitis pigmentosa: RP1/RHO sequence variants in a Turkish family. ( 22321012 )
2012
42
Elevated expression of angiomodulin (AGM/IGFBP-rP1) in tumor stroma and its roles in fibroblast activation. ( 22321149 )
2012
43
IGFBP-rP1 induces p21 expression through a p53-independent pathway, leading to cellular senescence of MCF-7 breast cancer cells. ( 22392074 )
2012
44
Ginsenoside-Rp1 inhibits platelet activation and thrombus formation via impaired glycoprotein VI signalling pathway, tyrosine phosphorylation and MAPK activation. ( 22471932 )
2012
45
Ginsenoside Rp1 Exerts Anti-inflammatory Effects via Activation of Dendritic Cells and Regulatory T Cells. ( 23717139 )
2012
46
Unilateral retinitis pigmentosa occurring in an individual with a germline mutation in the RP1 gene. ( 21746989 )
2011
47
Contrasting evolutionary patterns of the Rp1 resistance gene family in different species of Poaceae. ( 20713469 )
2011
48
Ginsenoside Rp1 from Panax ginseng exhibits anti-cancer activity by down-regulation of the IGF-1R/Akt pathway in breast cancer cells. ( 21748437 )
2011
49
Ginsenoside Rp1, a Ginsenoside Derivative, Blocks Promoter Activation of iNOS and COX-2 Genes by Suppression of an IKKβ-mediated NF-кB Pathway in HEK293 Cells. ( 23717062 )
2011
50
Differential pattern of RP1 mutations in retinitis pigmentosa. ( 20664799 )
2010

Variations for Retinitis Pigmentosa 1

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 1:

76
# Symbol AA change Variation ID SNP ID
1 RP1 p.Asp202Glu VAR_064182
2 RP1 p.Ala669Thr VAR_064468 rs201725231
3 RP1 p.Asp984Gly VAR_064471 rs200135800
4 RP1 p.Lys900Asn VAR_066951
5 RP1 p.Thr2113Asn VAR_066959 rs137887415
6 RP1 p.Leu172Arg VAR_068351 rs180729424

ClinVar genetic disease variations for Retinitis Pigmentosa 1:

6 (show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 RP1 NM_006269.1(RP1): c.2029C> T (p.Arg677Ter) single nucleotide variant Pathogenic rs104894082 GRCh37 Chromosome 8, 55538471: 55538471
2 RP1 NM_006269.1(RP1): c.2029C> T (p.Arg677Ter) single nucleotide variant Pathogenic rs104894082 GRCh38 Chromosome 8, 54625911: 54625911
3 RP1 NM_006269.1(RP1): c.2285_2289delTAAAT (p.Leu762Tyrfs) deletion Pathogenic rs869320726 GRCh38 Chromosome 8, 54626167: 54626171
4 RP1 NM_006269.1(RP1): c.2285_2289delTAAAT (p.Leu762Tyrfs) deletion Pathogenic rs869320726 GRCh37 Chromosome 8, 55538727: 55538731
5 RP1 NM_006269.1(RP1): c.2287_2290delAATA (p.Asn763Leufs) deletion Pathogenic rs869320727 GRCh37 Chromosome 8, 55538729: 55538732
6 RP1 NM_006269.1(RP1): c.2287_2290delAATA (p.Asn763Leufs) deletion Pathogenic rs869320727 GRCh38 Chromosome 8, 54626169: 54626172
7 RP1 NM_006269.1(RP1): c.2035C> T (p.Gln679Ter) single nucleotide variant Pathogenic rs104894083 GRCh37 Chromosome 8, 55538477: 55538477
8 RP1 NM_006269.1(RP1): c.2035C> T (p.Gln679Ter) single nucleotide variant Pathogenic rs104894083 GRCh38 Chromosome 8, 54625917: 54625917
9 RP1 NM_006269.1(RP1): c.1118C> T (p.Thr373Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs77775126 GRCh37 Chromosome 8, 55537560: 55537560
10 RP1 NM_006269.1(RP1): c.1118C> T (p.Thr373Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs77775126 GRCh38 Chromosome 8, 54625000: 54625000
11 RP1 NM_006269.1(RP1): c.1458_1461dupTGAA (p.Glu488Terfs) duplication Pathogenic rs869320728 GRCh37 Chromosome 8, 55537900: 55537903
12 RP1 NM_006269.1(RP1): c.1458_1461dupTGAA (p.Glu488Terfs) duplication Pathogenic rs869320728 GRCh38 Chromosome 8, 54625340: 54625343
13 RP1 NM_006269.1(RP1): c.2716G> A (p.Ala906Thr) single nucleotide variant Uncertain significance rs201538234 GRCh37 Chromosome 8, 55539158: 55539158
14 RP1 NM_006269.1(RP1): c.2716G> A (p.Ala906Thr) single nucleotide variant Uncertain significance rs201538234 GRCh38 Chromosome 8, 54626598: 54626598
15 RP1 NM_006269.1(RP1): c.2700dupA (p.Pro901Thrfs) duplication Pathogenic/Likely pathogenic rs797044735 GRCh37 Chromosome 8, 55539142: 55539142
16 RP1 NM_006269.1(RP1): c.2700dupA (p.Pro901Thrfs) duplication Pathogenic/Likely pathogenic rs797044735 GRCh38 Chromosome 8, 54626582: 54626582
17 RP1 NM_006269.1(RP1): c.4196delG (p.Cys1399Leufs) deletion Likely pathogenic rs762951570 GRCh37 Chromosome 8, 55540638: 55540638
18 RP1 NM_006269.1(RP1): c.4196delG (p.Cys1399Leufs) deletion Likely pathogenic rs762951570 GRCh38 Chromosome 8, 54628078: 54628078
19 RP1 NM_006269.1(RP1): c.4743dupA (p.Cys1582Metfs) duplication Pathogenic rs886041040 GRCh37 Chromosome 8, 55541185: 55541185
20 RP1 NM_006269.1(RP1): c.4743dupA (p.Cys1582Metfs) duplication Pathogenic rs886041040 GRCh38 Chromosome 8, 54628625: 54628625
21 RP1 NM_006269.1(RP1): c.3843delT (p.Pro1282Leufs) deletion Pathogenic rs769601671 GRCh38 Chromosome 8, 54627725: 54627725
22 RP1 NM_006269.1(RP1): c.3843delT (p.Pro1282Leufs) deletion Pathogenic rs769601671 GRCh37 Chromosome 8, 55540285: 55540285
23 RP1 NM_006269.1(RP1): c.5105_5109delATAAG (p.Asp1702Valfs) deletion Pathogenic rs1278053918 GRCh37 Chromosome 8, 55541547: 55541551
24 RP1 NM_006269.1(RP1): c.5105_5109delATAAG (p.Asp1702Valfs) deletion Pathogenic rs1278053918 GRCh38 Chromosome 8, 54628987: 54628991
25 RP1 NM_006269.1(RP1): c.368_369dup (p.Pro124Alafs) duplication Pathogenic GRCh38 Chromosome 8, 54621334: 54621335
26 RP1 NM_006269.1(RP1): c.368_369dup (p.Pro124Alafs) duplication Pathogenic GRCh37 Chromosome 8, 55533894: 55533895
27 RP1 NM_006269.1(RP1): c.1451C> A (p.Ser484Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 54625333: 54625333
28 RP1 NM_006269.1(RP1): c.1451C> A (p.Ser484Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 55537893: 55537893
29 RP1 NM_006269.1(RP1): c.2335del (p.Ser779Leufs) deletion Pathogenic GRCh38 Chromosome 8, 54626217: 54626217
30 RP1 NM_006269.1(RP1): c.2335del (p.Ser779Leufs) deletion Pathogenic GRCh37 Chromosome 8, 55538777: 55538777

Expression for Retinitis Pigmentosa 1

Search GEO for disease gene expression data for Retinitis Pigmentosa 1.

Pathways for Retinitis Pigmentosa 1

GO Terms for Retinitis Pigmentosa 1

Cellular components related to Retinitis Pigmentosa 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.78 DCX IFT140 RP1 RP1L1
2 cell projection GO:0042995 9.65 DCX IFT140 RHO RP1 RP1L1
3 microtubule GO:0005874 9.63 DCX RP1 RP1L1
4 cilium GO:0005929 9.58 IFT140 RP1 RP1L1
5 photoreceptor inner segment GO:0001917 9.43 RHO RP1
6 ciliary tip GO:0097542 9.37 IFT140 RP1
7 photoreceptor connecting cilium GO:0032391 9.33 IFT140 RP1 RP1L1
8 microtubule associated complex GO:0005875 9.32 DCX RP1
9 axoneme GO:0005930 9.26 DCX IFT140 RP1 RP1L1
10 photoreceptor outer segment GO:0001750 9.02 IFT140 PRPH2 RHO RP1 RP1L1

Biological processes related to Retinitis Pigmentosa 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.67 RHO RP1 RP1L1
2 intracellular signal transduction GO:0035556 9.65 DCX RP1 RP1L1
3 cell projection organization GO:0030030 9.63 IFT140 RP1 RP1L1
4 visual perception GO:0007601 9.56 PRPH2 RHO RP1 RP1L1
5 photoreceptor cell maintenance GO:0045494 9.5 RHO RP1 RP1L1
6 cellular response to light stimulus GO:0071482 9.43 RHO RP1
7 photoreceptor cell outer segment organization GO:0035845 9.4 IFT140 RP1
8 phototransduction, visible light GO:0007603 9.37 RHO RP1
9 axoneme assembly GO:0035082 9.33 DCX RP1 RP1L1
10 photoreceptor cell development GO:0042461 9.13 DCX RP1 RP1L1
11 retina development in camera-type eye GO:0060041 9.1 DCX IFT140 PRPH2 RHO RP1 RP1L1

Sources for Retinitis Pigmentosa 1

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