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, testes and eye, 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 24)
# Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 31.0 IFT140 PRPH2 RHO
2 fundus dystrophy 30.7 IFT140 PRPH2 RHO RP1
3 retinitis pigmentosa 30.5 DCX IFT140 PRPH2 RHO RP1 RP1L1
4 retinal degeneration 29.9 PRPH2 RHO
5 cone-rod dystrophy 2 29.9 PRPH2 RHO
6 retinitis 29.5 PRPH2 RHO RP1 RP1L1
7 cone-rod dystrophy 1 11.5
8 leber congenital amaurosis 1 11.2
9 leber congenital amaurosis 4 10.2
10 cone dystrophy 10.1
11 well-differentiated liposarcoma 10.1
12 breast cancer 10.0
13 colorectal cancer 10.0
14 retinitis pigmentosa 4 10.0
15 myopia 10.0
16 familial isolated pituitary adenoma 10.0
17 benign childhood occipital epilepsy, gastaut type 10.0
18 stargardt macular degeneration 9.9 PRPH2 RHO
19 retinitis pigmentosa 7 9.9 PRPH2 RHO
20 fundus albipunctatus 9.9 PRPH2 RHO
21 stargardt disease 9.9 PRPH2 RHO
22 occult macular dystrophy 9.8 DCX RP1L1
23 retinal disease 9.8 PRPH2 RHO
24 macular degeneration, age-related, 1 9.6 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 bone spicule pigmentation of the retina 33 HP:0007737
6 undetectable light- and dark-adapted electroretinogram 33 HP:0007688

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 Antibodies, Monoclonal Phase 1, Phase 2
5 Antineoplastic Agents, Immunological Phase 1, Phase 2
6 Antibodies Phase 1, Phase 2
7
Acetylcysteine Approved, Investigational Phase 1 616-91-1 12035
8
Ipilimumab Approved Phase 1 477202-00-9
9
Cyclophosphamide Approved, Investigational Phase 1 6055-19-2, 50-18-0 2907
10
Aspirin Approved, Vet_approved Phase 1 50-78-2 2244
11 Antidotes Phase 1
12 Antiviral Agents Phase 1
13 Expectorants Phase 1
14 N-monoacetylcystine Phase 1
15 Antioxidants Phase 1
16 Free Radical Scavengers Phase 1
17 Anti-Infective Agents Phase 1
18 cysteine Phase 1
19 Respiratory System Agents Phase 1
20 Protective Agents Phase 1
21 Analgesics, Non-Narcotic Phase 1
22 Antirheumatic Agents Phase 1
23 Platelet Aggregation Inhibitors Phase 1
24 Immunologic Factors Phase 1
25 Alkylating Agents Phase 1
26 Histamine H2 Antagonists Phase 1
27 Analgesics Phase 1
28 Cyclooxygenase Inhibitors Phase 1
29 Anti-Inflammatory Agents, Non-Steroidal Phase 1
30 Antipyretics Phase 1
31 Immunosuppressive Agents Phase 1
32 Peripheral Nervous System Agents Phase 1
33 Fibrinolytic Agents Phase 1
34 Anti-Inflammatory Agents 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, Testes, Eye, Retina, Endothelial, Colon, Hypothalamus

Publications for Retinitis Pigmentosa 1

Articles related to Retinitis Pigmentosa 1:

(show top 50) (show all 110)
# Title Authors Year
1
A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family. ( 30820140 )
2019
2
Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum. ( 30913292 )
2019
3
IGFBP-rP1, a strongly conserved member of the androgenic hormone signalling pathway in Isopoda. ( 30448382 )
2019
4
The location of exon 4 mutations in RP1 raises challenges for genetic counselling and gene therapy. ( 30731082 )
2019
5
Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa. ( 30027431 )
2018
6
Clinical significance of serum DRAM1 mRNA, ARSA mRNA, hsa-miR-2053 and lncRNA-RP1-86D1.3 axis expression in malignant pleural mesothelioma. ( 30362153 )
2018
7
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
8
Bioinformatics-based analysis of the involvement of AC005550.3, RP11-415D17.3, and RP1-140K8.5 in homocysteine-induced vascular endothelial injury. ( 30093949 )
2018
9
IGFBP-rP1 acts as a potential tumor suppressor via the suppression of ERK signaling pathway in endometrial cancer cells. ( 29067463 )
2017
10
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
11
The effects of recombination, mutation and selection on the evolution of the Rp1 resistance genes in grasses. ( 25907026 )
2015
12
Cytoplasmic and Nuclear Localizations Are Important for the Hypersensitive Response Conferred by Maize Autoactive Rp1-D21 Protein. ( 26039083 )
2015
13
Ginsenoside-Rp1-induced apolipoprotein A-1 expression in the LoVo human colon cancer cell line. ( 25379004 )
2014
14
Lipid raft modulation by Rp1 reverses multidrug resistance via inactivating MDR-1 and Src inhibition. ( 23473805 )
2013
15
Characterization of temperature and light effects on the defense response phenotypes associated with the maize Rp1-D21 autoactive resistance gene. ( 23890100 )
2013
16
Elevated expression of angiomodulin (AGM/IGFBP-rP1) in tumor stroma and its roles in fibroblast activation. ( 22321149 )
2012
17
Ginsenoside-Rp1 inhibits platelet activation and thrombus formation via impaired glycoprotein VI signalling pathway, tyrosine phosphorylation and MAPK activation. ( 22471932 )
2012
18
Ginsenoside Rp1 Exerts Anti-inflammatory Effects via Activation of Dendritic Cells and Regulatory T Cells. ( 23717139 )
2012
19
Ginsenoside Rp1 from Panax ginseng exhibits anti-cancer activity by down-regulation of the IGF-1R/Akt pathway in breast cancer cells. ( 21748437 )
2011
20
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
21
Recombinant Rp1 genes confer necrotic or nonspecific resistance phenotypes. ( 20443026 )
2010
22
Ginsenoside Rp1, a ginsenoside derivative, blocks lipopolysaccharide-induced interleukin-1beta production via suppression of the NF-kappaB pathway. ( 19145554 )
2009
23
Regulatory role of ginsenoside Rp1, a novel ginsenoside derivative, on CD29-mediated cell adhesion. ( 19165715 )
2009
24
Molecular mechanisms of ginsenoside Rp1-mediated growth arrest and apoptosis. ( 19639231 )
2009
25
Stability of thermostable alkaline protease from Bacillus licheniformis RP1 in commercial solid laundry detergent formulations. ( 16872818 )
2008
26
Anti-metastatic potential of ginsenoside Rp1, a novel ginsenoside derivative. ( 18758081 )
2008
27
Insulin-like growth factor binding protein-related protein 1 (IGFBP-rP1/MAC25) is linked to endothelial-dependent vasodilation in high-ferritin type 2 diabetes. ( 17351286 )
2007
28
Evaluation of chemopreventive action of Ginsenoside Rp1. ( 16614481 )
2006
29
Distinct gene expression profiles and reduced JNK signaling in retinitis pigmentosa caused by RP1 mutations. ( 16126734 )
2005
30
The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein. ( 15269252 )
2004
31
Molecular cloning, nucleotide sequencing and expression of genes encoding a cytochrome P450 system involved in secondary amine utilization in Mycobacterium sp. strain RP1. ( 14759702 )
2004
32
Homologues of the maize rust resistance gene Rp1-D are genetically associated with a major rust resistance QTL in sorghum. ( 15156283 )
2004
33
Aberrant mRNA processing of the maize Rp1-D rust resistance gene in wheat and barley. ( 15305606 )
2004
34
Identification and characterization of the retinitis pigmentosa 1- like1 gene (rp1l1): a novel candidate for retinal degenerations. ( 12634863 )
2003
35
Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene. ( 12724644 )
2003
36
RP1 is required for the correct stacking of outer segment discs. ( 14507858 )
2003
37
[Mutation analysis of retinitis pigmentosa 1 gene in Chinese with retinitis pigmentosa]. ( 12048676 )
2002
38
Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene. ( 11960024 )
2002
39
A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa. ( 11864893 )
2002
40
Structural analysis of the maize rp1 complex reveals numerous sites and unexpected mechanisms of local rearrangement. ( 12468738 )
2002
41
A barley gene family homologous to the maize rust resistance gene Rp1-D. ( 12582584 )
2002
42
Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1). ( 11527933 )
2001
43
RP1 in Chinese: Eight novel variants and evidence that truncation of the extreme C-terminal does not cause retinitis pigmentosa. ( 11317367 )
2001
44
Puccinia sorghi Virulent on Sweet Corn with the Rp1-D Gene in Southern France. ( 30823145 )
2001
45
Resistance Genes in the rp1 Region of Maize Effective Against Puccinia sorghi Virulent on the Rp1-D Gene in North America. ( 30831937 )
2001
46
First Report of Puccinia sorghi Virulent on Sweet Corn with the Rp1-D Gene in Florida and Texas. ( 30831920 )
2000
47
Puccinia sorghi in Sinaloa, Mexico Virulent on Corn with the Rp1-D Gene. ( 30832126 )
2000
48
A new family linked to the RP1 dominant retinitis pigmentosa locus on chromosome 8q. ( 10465120 )
1999
49
Molecular characterization of the maize Rp1-D rust resistance haplotype and its mutants. ( 10402435 )
1999
50
Both the fipA gene of pKM101 and the pifC gene of F inhibit conjugal transfer of RP1 by an effect on traG. ( 9696755 )
1998

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