RP18
MCID: RTN047
MIFTS: 44

Retinitis Pigmentosa 18 (RP18)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 18

MalaCards integrated aliases for Retinitis Pigmentosa 18:

Name: Retinitis Pigmentosa 18 56 12 52 73 29 13 6 15 71
Rp18 56 12 73
Retinitis Pigmentosa, Type 18 39
Rp 18 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
retinitis pigmentosa 18:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110356
OMIM 56 601414
OMIM Phenotypic Series 56 PS268000
MeSH 43 D012174
ICD10 32 H35.5
MedGen 41 C1832378
UMLS 71 C1832378

Summaries for Retinitis Pigmentosa 18

UniProtKB/Swiss-Prot : 73 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 pigmentosa and chloramine t respiratory allergy. An important gene associated with Retinitis Pigmentosa 18 is PRPF3 (Pre-MRNA Processing Factor 3), and among its related pathways/superpathways are Cellular Senescence (REACTOME) and Granzyme-A Pathway. The drugs Temocillin and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and bone, and related phenotypes are rod-cone dystrophy and nyctalopia

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 Nonsyndromic Retinitis Pigmentosa

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

(show all 46)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 27.8 VCP SP2 RNASE3 PRPF3 PRDM10 MICU1
2 chloramine t respiratory allergy 10.5 RNASE3 ALB
3 neuroretinitis 10.4
4 retinitis 10.4
5 myasthenic syndrome, congenital, 3b, fast-channel 10.4 SP2 ATRX
6 actinomycosis 10.4 PRDM10 H2AC18 ALB
7 dysentery 10.4 PRDM10 DCAF8 ALB
8 hemochromatosis type 2 10.4 SP2 RNASE3 MICU1
9 chediak-higashi syndrome 10.4 PRDM10 H2AC18 BLOC1S1
10 parasitic helminthiasis infectious disease 10.4 RNASE3 H2AC18 ALB
11 commensal bacterial infectious disease 10.4 PRDM10 H2AC18 ALB
12 hypotrichosis 1 10.4 PRDM10 H2AC18 ALB
13 hemoglobin d disease 10.4 APEX1 ALB
14 blood coagulation disease 10.3 H2AC18 BLOC1S1 ALB
15 pelizaeus-merzbacher disease 10.3 PRDM10 H2AC18 ALB
16 hair disease 10.3 PRDM10 H2AC18 ALB
17 fibrillary astrocytoma 10.3 H3C4 H2AC18 BLOC1S1 ATRX
18 toxic encephalopathy 10.3 PRDM10 H2AC18 ALB
19 pilomyxoid astrocytoma 10.3 H3C8 H3C4 ATRX
20 sphingolipidosis 10.3 PRDM10 H2AC18 BLOC1S1 ALB
21 nervous system disease 10.3 H2AC18 DCAF8 BLOC1S1 ALB
22 drug-induced lupus erythematosus 10.3 PRDM10 H2AC18 C8A ALB
23 brain stem glioma 10.3 H3C8 H3C4 ATRX
24 giant cell glioblastoma 10.3 H3C8 H3C4 ATRX
25 cerebral degeneration 10.3 PRDM10 H2AC18 ALB
26 peripheral nervous system disease 10.3 PRDM10 H2AC18 DCAF8 ALB
27 disease of mental health 10.3 PRDM10 H2AC18 BLOC1S1 ALB
28 parasitic protozoa infectious disease 10.3 PRDM10 H2AC18 ALB
29 corneal disease 10.3 PRDM10 H2AC18 ALB
30 bronchial disease 10.2 RNASE3 H2AC18 ALB
31 lipid storage disease 10.2 H2AC18 BLOC1S1 ALB
32 familial hypercholesterolemia 10.2 MICU1 H2AC18 DCAF8 ALB
33 specific developmental disorder 10.2 PRDM10 H2AC18 BLOC1S1 ATRX ALB
34 primary bacterial infectious disease 10.2 PRDM10 H2AC18 ALB
35 autosomal genetic disease 10.2 PRDM10 H2AC18 BLOC1S1 ATRX ALB
36 fundus dystrophy 10.2
37 inherited retinal disorder 10.2
38 myeloma, multiple 10.2 PRDM10 H2AC18 BLOC1S1 APEX1 ALB
39 x-linked recessive disease 10.1 PRDM10 H2AC18 ALB
40 eye disease 10.1 PRDM10 H2AC18 DCAF8 BLOC1S1 ALB
41 blood platelet disease 10.1 H2AC18 BLOC1S1 ALB
42 respiratory failure 10.1 RNASE3 HADHA H2AC18 APEX1 ALB
43 muscular disease 10.1 VCP PRDM10 H2AC18 DCAF8 BLOC1S1 ALB
44 inherited metabolic disorder 10.0 H2AC18 BLOC1S1 ALB
45 hypercholesterolemia, familial, 4 10.0 SP2 MICU1 H2AC18 DCAF8 C8A BLOC1S1
46 upper respiratory tract disease 9.9 RNASE3 H2AC18 ALB

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 rod-cone dystrophy 31 HP:0000510
2 nyctalopia 31 HP:0000662
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:

56
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

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

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.7 DYNLL1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.7 H2AC18 SP2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.7 ATRX
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.7 DYNLL1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.7 H3C4
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.7 H2AC18
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 9.7 ATRX
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 9.7 DYNLL1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.7 ATRX DYNLL1 H2AC18 H3C4 SP2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.7 SP2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.7 SP2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-38 9.7 ATRX
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.7 H2AC18 H3C4
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.7 SP2
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-64 9.7 H3C4
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.7 ATRX
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.7 SP2
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.7 ATRX

Drugs & Therapeutics for Retinitis Pigmentosa 18

Drugs for Retinitis Pigmentosa 18 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Temocillin Approved, Investigational Phase 4 66148-78-5
2 Anti-Bacterial Agents Phase 4
3 Anti-Infective Agents Phase 4
4 penicillins Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Clinical Pharmacokinetic Study: Is Three Times Weekly Temocillin Appropriate for the Treatment of Severe Gram-negative Infections in Patients With ESRD Treated With Intermittent Hemodialysis? Completed NCT02285075 Phase 4 temocillin PK/PD in haemodialysis

Search 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, Brain, Bone, Retina, Lung, Whole Blood, Testes

Publications for Retinitis Pigmentosa 18

Articles related to Retinitis Pigmentosa 18:

(show top 50) (show all 335)
# Title Authors PMID Year
1
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. 61 56 6
11773002 2002
2
Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex. 61 6
17932117 2008
3
A new dominant retinitis pigmentosa family mapping to the RP18 locus on chromosome 1q11-21. 61 56
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. 61 56
9600251 1998
5
A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1. 61 56
8842740 1996
6
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
7
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
8
Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa. 6
18412284 2008
9
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000
10
Application of targeted 2D planar chromatography in the control of ginkgolic acids in some herbal drugs and dietary supplements. 61
31955143 2020
11
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
12
Bioavailability, tissue distribution and excretion studies of a potential anti-osteoporotic agent, medicarpin, in female rats using validated LC-MS/MS method. 61
31855725 2019
13
Development and validation of Lenalidomide in human plasma by LC-MS/MS. 61
31762666 2019
14
[Identification of compounds in Lycii Cortex by UPLC-LTQ-Orbitrap-MS]. 61
31872637 2019
15
Sphingomonas flavalba sp. nov., isolated from a procymidone-contaminated soil. 61
31310195 2019
16
A multidrug LC-MS/MS method for the determination of five immunosuppressants in oral fluid. 61
31508995 2019
17
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
18
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
19
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
20
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
21
Liquid chromatography fingerprint analysis and antioxidant activity of selected lavender species with chemometric calculations. 61
31287826 2019
22
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
23
[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
24
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
25
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
26
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
27
UHPLC method for multiproduct pharmaceutical analysis by Quality-by-Design. 61
29111491 2018
28
Determination of perfluoroalkyl acid isomers in biosolids, biosolids-amended soils and plants using ultra-high performance liquid chromatography tandem mass spectrometry. 61
29132022 2018
29
A Novel Method for Determination of Methadone in the Serum by High-Performance Liquid Chromatography with Electrochemical Detection. 61
29607939 2018
30
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
31
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
32
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
33
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
34
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
35
Liquid Chromatographic-Chemometric Techniques for the Simultaneous HPLC Determination of Lansoprazole, Amoxicillin and Clarithromycin in Commercial Preparation. 61
28449104 2017
36
Determination of artemisitene in rat plasma by ultra-performance liquid chromatography/tandem mass spectrometry and its application in pharmacokinetics. 61
28403574 2017
37
Validated HPLC method for the pharmacokinetic study of oral extended-release cefpodoxime proxetil chitosan-alginate beads in rabbits. 61
28137463 2017
38
Assessment of Lipophilicity Indices Derived from Retention Behavior of Antioxidant Compounds in RP-HPLC. 61
28353678 2017
39
LC-MS/MS assay for the quantitation of the tyrosine kinase inhibitor neratinib in human plasma. 61
27907855 2017
40
Analysis of drugs of abuse in human plasma using microextraction by packed sorbents and ultra-high-performance liquid chromatography. 61
28108082 2017
41
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
42
Development and validation of reversed-phase HPLC gradient method for the estimation of efavirenz in plasma. 61
28505168 2017
43
Evaluation of potential reference genes for real-time qPCR analysis in a biparental beetle, Lethrus apterus (Coleoptera: Geotrupidae). 61
29201562 2017
44
Trilinear analysis of thin-layer chromatography retention of 35 model compounds chromatographed on nine adsorbents with 20 pure solvents. 61
27673481 2016
45
Development and Validation of a New Stability-Indicating RP-UPLC Method for the Quantitative Determination of Bromfenac Sodium and Its Impurities in an Ophthalmic Dosage Form. 61
27270417 2016
46
Linear modeling of the soil-water partition coefficient normalized to organic carbon content by reversed-phase thin-layer chromatography. 61
27378251 2016
47
Development and validation of a UHPLC-MS/MS method for simultaneous quantitation the plasma concentration of Sabarubicin and its alcohol metabolite M3 in Chinese small cell lung cancer patients. 61
27243582 2016
48
Development of high-throughput multi-residue method for non-steroidal anti-inflammatory drugs monitoring in swine muscle by LC-MS/MS. 61
27268755 2016
49
Ultra-performance liquid chromatography-tandem mass spectrometric assay for the simultaneous determination of brucine, strychnine and brucine N-oxide in rat plasma: application to a pharmacokinetic study. 61
26578094 2016
50
Development, validation and comparison of UHPSFC and UHPLC methods for the determination of agomelatine and its impurities. 61
27131147 2016

Variations for Retinitis Pigmentosa 18

ClinVar genetic disease variations for Retinitis Pigmentosa 18:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRPF3 NM_004698.4(PRPF3):c.1466C>A (p.Ala489Asp)SNV Pathogenic 3354 rs121434243 1:150316677-150316677 1:150344201-150344201
2 PRPF3 NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met)SNV Pathogenic 3352 rs121434241 1:150316692-150316692 1:150344216-150344216
3 PRPF3 NM_004698.4(PRPF3):c.1477C>T (p.Pro493Ser)SNV Pathogenic 3353 rs121434242 1:150316688-150316688 1:150344212-150344212
4 PRPF3 NM_004698.4(PRPF3):c.-48-2A>TSNV Uncertain significance 801541 1:150297351-150297351 1:150324893-150324893

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

73
# 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.05 VCP H3C8 H3C4 H2AC18 H1-1 DYNLL1
2 10.16 H1-1 APEX1

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 9.83 VCP SP2 PRPF3 PRDM10 H3C8 H3C4
2 chromosome GO:0005694 9.65 H3C8 H3C4 H2AC18 H1-1 ATRX
3 nuclear chromosome GO:0000228 9.33 H3C8 H3C4 ATRX
4 nucleosome GO:0000786 8.92 H3C8 H3C4 H2AC18 H1-1

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

# Name GO ID Score Top Affiliating Genes
1 regulation of gene silencing GO:0060968 9.16 H3C8 H3C4
2 meiotic spindle organization GO:0000212 8.96 ESPL1 ATRX
3 nucleosome assembly GO:0006334 8.92 H3C8 H3C4 H1-1 ATRX

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.91 VCP SP2 PRPF3 PRDM10 MICU1 HADHA
2 protein-containing complex binding GO:0044877 9.46 VCP HADHA C8A APEX1
3 DNA binding GO:0003677 9.32 SP2 PRDM10 H3C8 H3C4 H2AC18 H1-1

Sources for Retinitis Pigmentosa 18

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....