RP18
MCID: RTN047
MIFTS: 45

Retinitis Pigmentosa 18 (RP18)

Categories: Ear diseases, Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 18

MalaCards integrated aliases for Retinitis Pigmentosa 18:

Name: Retinitis Pigmentosa 18 57 12 20 72 29 13 6 15 70
Rp18 57 12 72
Retinitis Pigmentosa, Type 18 39
Rp 18 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
retinitis pigmentosa 18:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110356
OMIM® 57 601414
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C1832378
UMLS 70 C1832378

Summaries for Retinitis Pigmentosa 18

UniProtKB/Swiss-Prot : 72 Retinitis pigmentosa 18: 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 18, also known as rp18, is related to retinitis and fundus dystrophy. An important gene associated with Retinitis Pigmentosa 18 is PRPF3 (Pre-MRNA Processing Factor 3), and among its related pathways/superpathways are Salmonella infection (KEGG) and Development Slit-Robo signaling. Affiliated tissues include eye, retina and bone, and related phenotypes are nyctalopia and rod-cone dystrophy

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the PRPF3 gene on chromosome 1q21.

More information from OMIM: 601414 PS268000

Related Diseases for Retinitis Pigmentosa 18

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
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 18 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 105)
# Related Disease Score Top Affiliating Genes
1 retinitis 30.6 RP9 PRPF8 PRPF31 PRPF3
2 fundus dystrophy 29.5 RP9 PRPF8 PRPF4 PRPF31 PRPF3 GAPDH
3 retinitis pigmentosa 28.7 TUBA4A TUBA3D TUBA3C RPL18 RP9 PRPF8
4 cataract 36 10.4 TUBA3D TUBA3C
5 pseudoretinitis pigmentosa 10.4 PRPF31 PRPF3
6 subacute glomerulonephritis 10.4 ALB ACTB
7 rumination disorder 10.4 H2AC18 H1-5
8 paraphilia disorder 10.4 H2AC18 H1-5
9 46,xy sex reversal 8 10.4 TUBA3D TUBA3C H2AC18
10 fetishism 10.4 H2AC18 H1-5 H1-1
11 tonsil squamous cell carcinoma 10.4 H1-5 H1-1
12 transvestism 10.3 H2AC18 H1-5 H1-1
13 lice infestation 10.3 H2AC18 ALB ACTB
14 parasitic ectoparasitic infectious disease 10.3 H2AC18 ALB ACTB
15 corneal disease 10.3 TUBA3D H2AC18 ALB
16 meckel diverticulum 10.3 BLOC1S1 ALB
17 mandibulofacial dysostosis, guion-almeida type 10.3 PRPF8 PRPF4 PRPF3
18 lipid storage disease 10.3 H2AC18 BLOC1S1 ALB
19 retinitis pigmentosa 24 10.3 H2AC18 GAPDH ACTB
20 retinitis pigmentosa 49 10.3 RPL18 H2AC18 ACTB
21 sexual disorder 10.3 H2AC18 CYP3A4 ALB
22 diffuse idiopathic skeletal hyperostosis 10.3 GAPDH ALB ACTB
23 retinitis pigmentosa 23 10.3 H2AC18 GAPDH ACTB
24 conidiobolomycosis 10.3 PPIG CYP3A4
25 leukemia, acute monocytic 10.3 H2AC18 GAPDH ACTB
26 hereditary lymphedema 10.3 H2AC18 GAPDH ACTB
27 hypertrophy of tongue papillae 10.3 PPIG CYP3A4
28 hereditary lymphedema i 10.3 H2AC18 GAPDH ACTB
29 exanthem 10.3 H2AC18 CYP3A4 ALB
30 paralytic ileus 10.3 CYP3A4 ALB
31 contractural arachnodactyly, congenital 10.3 GAPDH ALB ACTB
32 ovary adenocarcinoma 10.3 H2AC18 GAPDH ACTB
33 inhibited female orgasm 10.3 CYP3A4 ALB
34 kaufman oculocerebrofacial syndrome 10.2 H2AC18 GAPDH ACTB
35 wilson-turner x-linked mental retardation syndrome 10.2 H2AC18 GAPDH ACTB
36 retinitis pigmentosa 31 10.2 RP9 PRPF8 PRPF31 PRPF3
37 isolated growth hormone deficiency 10.2 PRPF4 PRPF31 PRPF3 H2AC18
38 retinitis pigmentosa 13 10.2 RP9 PRPF8 PRPF31 PRPF3
39 cataract 4, multiple types 10.2 GAPDH ALB ACTB
40 suppression of tumorigenicity 12 10.2 H2AC18 GAPDH ACTB
41 outlet dysfunction constipation 10.2 PPIG CYP3A4
42 usher syndrome, type iiia 10.2 RP9 PRPF8 PRPF31 PRPF3
43 hypomyelinating leukodystrophy 10.2 H2AC18 GAPDH ACTB
44 kabuki syndrome 1 10.2 H2AC18 GAPDH ACTB
45 mucormycosis 10.2 PPIG CYP3A4 ALB
46 actinomycosis 10.2 H2AC18 GAPDH ALB ACTB
47 drug-induced lupus erythematosus 10.2 H2AC18 GAPDH ALB ACTB
48 loeys-dietz syndrome 10.2 H2AC18 GAPDH ACTB
49 mulibrey nanism 10.2 H2AC18 GAPDH ALB ACTB
50 ectodermal dysplasia 1, hypohidrotic, x-linked 10.2 H2AC18 GAPDH ALB ACTB

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 18:



Diseases related to Retinitis Pigmentosa 18

Symptoms & Phenotypes for Retinitis Pigmentosa 18

Human phenotypes related to Retinitis Pigmentosa 18:

31
# Description HPO Frequency HPO Source Accession
1 nyctalopia 31 HP:0000662
2 rod-cone dystrophy 31 HP:0000510
3 scotoma 31 HP:0000575
4 progressive visual field defects 31 HP:0007987
5 retinal arteriolar constriction 31 HP:0008043

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
progressive visual field defects
night blindness
peripheral fundus bone spicule formation
constricted retinal arterioles
mid-peripheral ring scotomas

Clinical features from OMIM®:

601414 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 18 according to GeneCards Suite gene sharing:

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.58 H2AC18
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-107 9.58 TUBA3D
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.58 TUBA3C
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-115 9.58 PRPF31
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.58 PRPF31
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-12 9.58 TUBA3C
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-135 9.58 PRPF31
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-138 9.58 TUBA3D
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.58 H2AC18
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 9.58 TUBA3C
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.58 H2AC18
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 9.58 H2AC18
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.58 H2AC18
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.58 PRPF31
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.58 H2AC18 PRPF31
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.58 H2AC18
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-44 9.58 TUBA3C

Drugs & Therapeutics for Retinitis Pigmentosa 18

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 18

Genetic Tests for Retinitis Pigmentosa 18

Genetic tests related to Retinitis Pigmentosa 18:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 18 29 PRPF3

Anatomical Context for Retinitis Pigmentosa 18

MalaCards organs/tissues related to Retinitis Pigmentosa 18:

40
Eye, Retina, Bone, Lung, Whole Blood, Brain, Thymus

Publications for Retinitis Pigmentosa 18

Articles related to Retinitis Pigmentosa 18:

(show top 50) (show all 344)
# Title Authors PMID Year
1
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. 61 6 57
11773002 2002
2
Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex. 6 61
17932117 2008
3
A new dominant retinitis pigmentosa family mapping to the RP18 locus on chromosome 1q11-21. 57 61
9733043 1998
4
Refined genetic mapping of autosomal dominant retinitis pigmentosa locus RP18 reduces the critical region to 2 cM between D1S442 and D1S2858 on chromosome 1q. 57 61
9600251 1998
5
A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1. 57 61
8842740 1996
6
Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa. 6
18412284 2008
7
Comparison of content-toxicity-activity of six ingenane-type diterpenoids between Euphorbia kansui before and after stir-fried with vinegar by using UFLC-MS/MS, zebrafish embryos and HT-29 cells. 61
33349474 2021
8
Quantitation of Apremilast in Beagle Dogs Plasma by UPLC-MS-MS and Its Application to Pharmacokinetic Studies. 61
33510930 2021
9
Virulent infection of outbred Hartley guinea pigs with recombinant Pichinde virus as a surrogate small animal model for human Lassa fever. 61
32799623 2020
10
Selection of calibration compounds for selectivity evaluation of siloxane-bonded silica columns for reversed-phase liquid chromatography by the solvation parameter model. 61
33161359 2020
11
Sphingomyelin Deacylase, the Enzyme Involved in the Pathogenesis of Atopic Dermatitis, Is Identical to the β-Subunit of Acid Ceramidase. 61
33233706 2020
12
Quantification of letermovir in human serum using high-performance liquid chromatography with diode array detection. 61
33126068 2020
13
Extract and the quassinoid ailanthone from Ailanthus altissima inhibit nematode reproduction by damaging germ cells and rachis in the model organism Caenorhabditis elegans. 61
32504655 2020
14
Determination of 4 psychoactive substances in tea using ultra high performance liquid chromatography combined with the quadrupole time-of-flight mass spectrometry. 61
32966359 2020
15
Enantiomeric separation of triacylglycerols containing fatty acids with a ring (cyclofatty acids). 61
32317104 2020
16
Pichinde Virus Infection of Outbred Hartley Guinea Pigs as a Surrogate Animal Model for Human Lassa Fever: Histopathological and Immunohistochemical Analyses. 61
32708789 2020
17
Application of targeted 2D planar chromatography in the control of ginkgolic acids in some herbal drugs and dietary supplements. 61
31955143 2020
18
Characterization of four unknown impurities in azithromycin and erythromycin imino ether using two-dimensional liquid chromatography coupled to high-resolution quadrupole time-of-flight mass spectrometry and nuclear magnetic resonance. 61
32112476 2020
19
Development and Validation of a Novel Stability-Indicating RP-HPLC Method for Simultaneous Determination of Tezacaftor and Ivacaftor in Fixed Dose Combination. 61
31953544 2020
20
Bioavailability, tissue distribution and excretion studies of a potential anti-osteoporotic agent, medicarpin, in female rats using validated LC-MS/MS method. 61
31855725 2020
21
Determination of the Contents of Antioxidants and Their Degradation Products in Sodium Chloride Injection for Blood Transfusion. 61
32655966 2020
22
Development and validation of Lenalidomide in human plasma by LC-MS/MS. 61
31762666 2019
23
[Identification of compounds in Lycii Cortex by UPLC-LTQ-Orbitrap-MS]. 61
31872637 2019
24
Sphingomonas flavalba sp. nov., isolated from a procymidone-contaminated soil. 61
31310195 2019
25
Development and Validation of a Fast Ultra-High Performance Liquid Chromatography-Fluorescent Method for the Quantification of Hydroxychloroquine and Its Metabolites in Patients With Lupus. 61
30807538 2019
26
Development and validation of a sensitive LC-MS/MS method for determination of gefitinib and its major metabolites in human plasma and its application in non-small cell lung cancer patients. 61
31096095 2019
27
A multidrug LC-MS/MS method for the determination of five immunosuppressants in oral fluid. 61
31508995 2019
28
Integration of Data-Dependent Acquisition (DDA) and Data-Independent High-Definition MSE (HDMSE) for the Comprehensive Profiling and Characterization of Multicomponents from Panax japonicus by UHPLC/IM-QTOF-MS. 61
31349632 2019
29
Simultaneous Profiling and Holistic Comparison of the Metabolomes among the Flower Buds of Panax ginseng, Panax quinquefolius, and Panax notoginseng by UHPLC/IM-QTOF-HDMSE-Based Metabolomics Analysis. 61
31212627 2019
30
Liquid chromatography fingerprint analysis and antioxidant activity of selected lavender species with chemometric calculations. 61
31287826 2019
31
Ultrahigh-performance liquid chromatography-tandem mass spectrometry (UHPLC-MS/MS) assay for simultaneous quantifications of CZ48, lactone-stabilized camptothecin, and camptothecin and their pharmacokinetic and biliary evaluations in rats. 61
30149187 2018
32
[Determination of migration of perfluorooctanoic acid and perfluorooctane sulfonic acid from food contact materials by ionic liquid-based dispersive liquid-liquid microextraction and ultra-performance liquid chromatography-tandem mass spectrometry]. 61
30251496 2018
33
Development and validation of an ultrahigh performance liquid chromatography-high resolution tandem mass spectrometry assay for nine toxic alkaloids from endophyte-infected pasture grasses in horse serum. 61
29779692 2018
34
Development and Validation of a Novel Stability-Indicating Reversed-Phase Ion-Pair Chromatographic Method for the Quantitation of Impurities in Marbofloxacin Tablets. 61
29081335 2018
35
Development and validation of a stability-indicating HPLC-UV method for the determination of triamcinolone acetonide and its degradation products in an ointment formulation. 61
29127908 2018
36
A Novel Method for Determination of Methadone in the Serum by High-Performance Liquid Chromatography with Electrochemical Detection. 61
29607939 2018
37
UHPLC method for multiproduct pharmaceutical analysis by Quality-by-Design. 61
29111491 2018
38
Liquid chromatography-electrospray ionization-tandem mass spectrometry method for quantitative estimation of new imiqualine leads with potent anticancer activities in rat and mouse plasma. Application to a pharmacokinetic study in mice. 61
29111492 2018
39
Determination of perfluoroalkyl acid isomers in biosolids, biosolids-amended soils and plants using ultra-high performance liquid chromatography tandem mass spectrometry. 61
29132022 2018
40
Quantitative analysis of rutin, quercetin, naringenin, and gallic acid by validated RP- and NP-HPTLC methods for quality control of anti-HBV active extract of Guiera senegalensis. 61
28283004 2017
41
Optimization of ultra-high pressure liquid chromatography - tandem mass spectrometry determination in plasma and red blood cells of four sphingolipids and their evaluation as biomarker candidates of Gaucher's disease. 61
29061473 2017
42
Quantitative Analysis of Benzyl Isothiocyanate in Salvadora persica Extract and Dental Care Herbal Formulations Using Reversed Phase C18 High-Performance Liquid Chromatography Method. 61
29142392 2017
43
Counter-current chromatography with off-line detection by ultra high performance liquid chromatography/high resolution mass spectrometry in the study of the phenolic profile of Lippia origanoides. 61
28939231 2017
44
Liquid Chromatographic-Chemometric Techniques for the Simultaneous HPLC Determination of Lansoprazole, Amoxicillin and Clarithromycin in Commercial Preparation. 61
28449104 2017
45
Determination of artemisitene in rat plasma by ultra-performance liquid chromatography/tandem mass spectrometry and its application in pharmacokinetics. 61
28403574 2017
46
Validated HPLC method for the pharmacokinetic study of oral extended-release cefpodoxime proxetil chitosan-alginate beads in rabbits. 61
28137463 2017
47
Assessment of Lipophilicity Indices Derived from Retention Behavior of Antioxidant Compounds in RP-HPLC. 61
28353678 2017
48
Analysis of drugs of abuse in human plasma using microextraction by packed sorbents and ultra-high-performance liquid chromatography. 61
28108082 2017
49
Development and validation of a simple and robust HPLC method with UV detection for quantification of the hepatitis C virus inhibitor daclatasvir in human plasma. 61
27939848 2017
50
LC-MS/MS assay for the quantitation of the tyrosine kinase inhibitor neratinib in human plasma. 61
27907855 2017

Variations for Retinitis Pigmentosa 18

ClinVar genetic disease variations for Retinitis Pigmentosa 18:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRPF3 NM_004698.4(PRPF3):c.1477C>T (p.Pro493Ser) SNV Pathogenic 3353 rs121434242 GRCh37: 1:150316688-150316688
GRCh38: 1:150344212-150344212
2 PRPF3 NM_004698.4(PRPF3):c.1466C>A (p.Ala489Asp) SNV Pathogenic 3354 rs121434243 GRCh37: 1:150316677-150316677
GRCh38: 1:150344201-150344201
3 PRPF3 NM_004698.4(PRPF3):c.1285G>T (p.Asp429Tyr) SNV Pathogenic 812123 rs1572263404 GRCh37: 1:150315787-150315787
GRCh38: 1:150343311-150343311
4 PRPF3 NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met) SNV Pathogenic 3352 rs121434241 GRCh37: 1:150316692-150316692
GRCh38: 1:150344216-150344216
5 PRPF3 NM_004698.4(PRPF3):c.1504G>C (p.Ala502Pro) SNV Likely pathogenic 982384 GRCh37: 1:150316715-150316715
GRCh38: 1:150344239-150344239
6 PRPF3 NM_004698.4(PRPF3):c.500C>T (p.Thr167Ile) SNV Uncertain significance 930598 GRCh37: 1:150305231-150305231
GRCh38: 1:150332760-150332760
7 PRPF3 NM_004698.4(PRPF3):c.508-13C>G SNV Uncertain significance 932134 GRCh37: 1:150305437-150305437
GRCh38: 1:150332966-150332966
8 PRPF3 NM_004698.4(PRPF3):c.-48-2A>T SNV Uncertain significance 801541 rs782747350 GRCh37: 1:150297351-150297351
GRCh38: 1:150324893-150324893

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 18:

72
# Symbol AA change Variation ID SNP ID
1 PRPF3 p.Thr494Met VAR_016877 rs121434241
2 PRPF3 p.Pro493Ser VAR_046735 rs121434242

Expression for Retinitis Pigmentosa 18

Search GEO for disease gene expression data for Retinitis Pigmentosa 18.

Pathways for Retinitis Pigmentosa 18

Pathways related to Retinitis Pigmentosa 18 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.42 TUBA4A TUBA3D TUBA3C GAPDH ACTB
2
Show member pathways
12.16 TUBA4A TUBA3D TUBA3C ACTB
3
Show member pathways
12.12 TUBA4A TUBA3D TUBA3C ACTB
4
Show member pathways
12.09 TUBA4A TUBA3D TUBA3C ACTB
5 11.85 TUBA4A TUBA3D TUBA3C ACTB
6 11.74 TUBA4A TUBA3D TUBA3C ACTB
7 11.6 TUBA4A TUBA3D TUBA3C
8
Show member pathways
11.54 TUBA4A TUBA3D TUBA3C ACTB
9
Show member pathways
11.29 TUBA4A TUBA3D TUBA3C ACTB
10 10.9 TUBA4A TUBA3D TUBA3C ACTB
11 10.7 H1-5 H1-1

GO Terms for Retinitis Pigmentosa 18

Cellular components related to Retinitis Pigmentosa 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.03 TUBA3C RPL18 RP9 PRPF8 PRPF4 PRPF31
2 nuclear speck GO:0016607 9.77 PRPF8 PRPF4 PRPF31 PRPF3 PPIG
3 microtubule cytoskeleton GO:0015630 9.62 TUBA4A TUBA3D TUBA3C GAPDH
4 nucleosome GO:0000786 9.61 H2AC18 H1-5 H1-1
5 Cajal body GO:0015030 9.58 PRPF4 PRPF31 PRPF3
6 spliceosomal complex GO:0005681 9.56 PRPF8 PRPF4 PRPF31 PRPF3
7 U2-type precatalytic spliceosome GO:0071005 9.26 PRPF8 PRPF4 PRPF31 PRPF3
8 U4/U6 x U5 tri-snRNP complex GO:0046540 8.92 PRPF8 PRPF4 PRPF31 PRPF3

Biological processes related to Retinitis Pigmentosa 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA splicing, via spliceosome GO:0000398 9.67 PRPF8 PRPF4 PRPF31 PRPF3
2 microtubule cytoskeleton organization GO:0000226 9.62 TUBA4A TUBA3D TUBA3C GAPDH
3 negative regulation of DNA recombination GO:0045910 9.46 H1-5 H1-1
4 nucleosome positioning GO:0016584 9.43 H1-5 H1-1
5 microtubule-based process GO:0007017 9.43 TUBA4A TUBA3D TUBA3C
6 negative regulation of chromatin silencing GO:0031936 9.4 H1-5 H1-1
7 RNA splicing, via transesterification reactions GO:0000375 9.33 PRPF8 PRPF4 PRPF3
8 spliceosomal tri-snRNP complex assembly GO:0000244 9.13 PRPF8 PRPF31 PRPF3
9 RNA splicing GO:0008380 9.1 RP9 PRPF8 PRPF4 PRPF31 PRPF3 PPIG

Molecular functions related to Retinitis Pigmentosa 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.87 RPL18 RP9 PRPF8 PRPF31 PRPF3 PPIG
2 U6 snRNA binding GO:0017070 9.26 PRPF8 PRPF4
3 U4 snRNA binding GO:0030621 9.16 PRPF4 PRPF31
4 nucleosomal DNA binding GO:0031492 9.13 H1-5 H1-1 ACTB
5 structural constituent of cytoskeleton GO:0005200 8.92 TUBA4A TUBA3D TUBA3C ACTB

Sources for Retinitis Pigmentosa 18

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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