Retinitis Pigmentosa 11 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

RP11 MCID: RTN041 MIFTS: 42	Retinitis Pigmentosa 11 (RP11) Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Retinitis Pigmentosa 11

MalaCards integrated aliases for Retinitis Pigmentosa 11:

Name: Retinitis Pigmentosa 11 ⁵⁶ ¹² ⁵² ⁷³ ²⁹ ¹³ ⁶ ¹⁵ ⁷¹

Rp11 ⁵⁶ ¹² ⁷³ ¹⁵

Retinitis Pigmentosa, Type 11 ³⁹

Rp 11 ⁵²

Characteristics:

OMIM:

⁵⁶

Miscellaneous:
incomplete penetrance

Inheritance:
autosomal dominant

HPO:

³¹

retinitis pigmentosa 11:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

External Ids:

Disease Ontology ¹² DOID:0110408

OMIM ⁵⁶ 600138

OMIM Phenotypic Series ⁵⁶ PS268000

MeSH ⁴³ D012174

ICD10 ³² H35.5

MedGen ⁴¹ C1838601

SNOMED-CT via HPO ⁶⁸ 1151008 13164000 238828009 more

UMLS ⁷¹ C1838601

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Summaries for Retinitis Pigmentosa 11

UniProtKB/Swiss-Prot : ⁷³ Retinitis pigmentosa 11: 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 11, also known as rp11, is related to retinitis pigmentosa 13 and retinitis pigmentosa. An important gene associated with Retinitis Pigmentosa 11 is PRPF31 (Pre-MRNA Processing Factor 31). Affiliated tissues include breast, lung and retina, and related phenotypes are macular atrophy and nyctalopia

Disease Ontology : ¹² A retinitis pigmentosa that has material basis in mutation in the PRPF31 gene on chromosome 19q13.

OMIM : ⁵⁶ Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal dystrophies characterized by a progressive degeneration of photoreceptors, eventually resulting in severe visual impairment. For a discussion of genetic heterogeneity of RP, see 268000. (600138)

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Related Diseases for Retinitis Pigmentosa 11

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
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 11 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 116)

#	Related Disease	Score	Top Affiliating Genes
1	retinitis pigmentosa 13	31.3	RP9 PRPF31 LUC7L2
2	retinitis pigmentosa	31.1	YARS1 XIST TMSB15A TMPRSS2 SLC27A5 SDHC
3	fibrillary astrocytoma	10.7	LUC7L2 KDM4C H2AC18
4	fetal alcohol spectrum disorder	10.7	SLC27A5 KDM4C H2AC18
5	fetal alcohol syndrome	10.7	SLC27A5 KDM4C H2AC18
6	central nervous system benign neoplasm	10.7	LUC7L2 KDM4C H2AC18
7	chronic leukemia	10.7	LUC7L2 KDM4C H2AC18
8	colonic benign neoplasm	10.7	KDM4C HRAS H2AC18
9	hereditary lymphedema i	10.7	KDM4C H2AC18 GAPDH
10	hyperoxaluria, primary, type i	10.7	PRODH KDM4C H2AC18
11	melanoma in congenital melanocytic nevus	10.7	KDM4C HRAS H2AC18
12	thyroid cancer, nonmedullary, 1	10.7	MIR146A HOTAIR CCND2-AS1
13	germ cell and embryonal cancer	10.7	PRODH KDM4C H2AC18
14	endocrine organ benign neoplasm	10.7	SDHC MIR335 KDM4C H2AC18
15	retinitis pigmentosa 24	10.7	XIST SLC27A5 H2AC18 GAPDH
16	hypotrichosis 1	10.7	KDM4C H2AC18 GAPDH
17	prostate small cell carcinoma	10.7	TMPRSS2 KDM4C
18	retinitis pigmentosa 23	10.7	SLC27A5 SDHC H2AC18 GAPDH
19	neuroretinitis	10.7
20	retinitis	10.7
21	amino acid metabolic disorder	10.7	PRODH KDM4C H2AC18
22	x-linked recessive disease	10.7	SLC27A5 PRODH H2AC18 GAPDH
23	connective tissue cancer	10.7	TMSB15A MIR335 KDM4C H2AC18
24	bone marrow cancer	10.7	LUC7L2 KDM4C HRAS H2AC18
25	cardiovascular organ benign neoplasm	10.6	KDM4C HRAS H2AC18
26	carbohydrate metabolic disorder	10.6	PRODH KDM4C H2AC18
27	pelizaeus-merzbacher disease	10.6	SDHC PRODH H2AC18 GAPDH
28	blood coagulation disease	10.6	PRODH LUC7L2 H2AC18
29	overnutrition	10.6	PRODH MIR146A KDM4C H2AC18
30	sleeping sickness	10.6	PRODH H2AC18 GAPDH
31	specific developmental disorder	10.6	PRODH KDM4C H2AC18 GAPDH
32	lymphangioma	10.6	KDM4C HRAS H2AC18
33	reproductive system disease	10.6	PRODH MIR335 MIR146A KDM4C H2AC18
34	central nervous system cancer	10.6	TMSB15A MIR296 KDM4C H2AC18 CCND2-AS1
35	ovary epithelial cancer	10.6	KDM4C HRAS H2AC18 GAPDH
36	glucose metabolism disease	10.6	PRODH MIR335 MIR146A H2AC18
37	malignant ovarian surface epithelial-stromal neoplasm	10.6	KDM4C HRAS H2AC18 GAPDH
38	lymphatic system cancer	10.6	PRODH MIR146A KDM4C H2AC18
39	peptic ulcer disease	10.6	PRODH HRAS H2AC18
40	hair disease	10.6	KDM4C H2AC18 GAPDH
41	bone cancer	10.6	TMSB15A MIR335 KDM4C H2AC18 GAPDH
42	acquired metabolic disease	10.6	PRODH MIR335 MIR146A H2AC18
43	immune system disease	10.6	PRODH MIR335 MIR146A KDM4C H2AC18
44	lymphatic system disease	10.6	PRODH MIR296 MIR146A KDM4C H2AC18
45	urinary system disease	10.6	PRODH MIR146A KDM4C H2AC18
46	central nervous system disease	10.6	PRODH MIR335 MIR146A KDM4C H2AC18
47	nervous system disease	10.6	PRODH MIR335 MIR146A KDM4C H2AC18
48	respiratory system cancer	10.6	MIR335 MIR296 MIR146A KDM4C H2AC18
49	blood platelet disease	10.6	PRODH LUC7L2 H2AC18
50	placenta disease	10.6	PRODH MIR146A H2AC18

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 11:

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Symptoms & Phenotypes for Retinitis Pigmentosa 11

Human phenotypes related to Retinitis Pigmentosa 11:

³¹ (show all 10)

#	Description	HPO Frequency	HPO Source Accession
1	macular atrophy ³¹	occasional (7.5%)	HP:0007401
2	nyctalopia ³¹	very rare (1%)	HP:0000662
3	optic disc pallor ³¹	very rare (1%)	HP:0000543
4	macular edema ³¹	very rare (1%)	HP:0040049
5	perifoveal ring of hyperautofluorescence ³¹	very rare (1%)	HP:0030629
6	blindness ³¹		HP:0000618
7	reduced visual acuity ³¹		HP:0007663
8	rod-cone dystrophy ³¹		HP:0000510
9	constriction of peripheral visual field ³¹		HP:0001133
10	bone spicule pigmentation of the retina ³¹		HP:0007737

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Eyes:
retinitis pigmentosa
macular edema (in some patients)
macular atrophy (in some patients)
night blindness (onset in teens)
blindness (onset in 30s)
more

Clinical features from OMIM:

600138

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Drugs & Therapeutics for Retinitis Pigmentosa 11

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 11

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Genetic Tests for Retinitis Pigmentosa 11

Genetic tests related to Retinitis Pigmentosa 11:

#	Genetic test	Affiliating Genes
1	Retinitis Pigmentosa 11 ²⁹	PRPF31

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Anatomical Context for Retinitis Pigmentosa 11

MalaCards organs/tissues related to Retinitis Pigmentosa 11:

⁴⁰

Breast, Lung, Retina, Thyroid, Myeloid, Bone, Eye

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Publications for Retinitis Pigmentosa 11

Articles related to Retinitis Pigmentosa 11:

(show top 50) (show all 625)

#	Title	Authors	PMID	Year
1	Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations. ⁶¹ ⁵⁶ ⁶	Rivolta C...Dryja TP	16708387	2006
2	Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family. ⁶ ⁵⁶ ⁶¹	Wang L...Wang Q	12923864	2003
3	A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). ⁵⁶ ⁶ ⁶¹	Vithana EN...Bhattacharya SS	11545739	2001
4	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. ⁶ ⁶¹ ⁵⁶	McGee TL...Dryja TP	9345108	1997
5	Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype. ⁶¹ ⁶ ⁵⁶	Al-Maghtheh M...Inglehearn CF	8808602	1996
6	A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance. ⁵⁶ ⁶	Rio Frio T...Rivolta C	19618371	2009
7	Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa. ⁵⁶ ⁶	Waseem NH...Bhattacharya SS	17325180	2007
8	Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study. ⁶ ⁵⁶	Moore AT...Bird AC	8025041	1993
9	Dominant retinitis pigmentosa with reduced penetrance. ⁶ ⁵⁶	Berson EL...Myrianthopoulos NC	5764686	1969
10	No mutations in the coding region of the PRKCG gene in three families with retinitis pigmentosa linked to the RP11 locus on chromosome 19q. ⁵⁶ ⁶¹	Dryja TP...Berson EL	10441600	1999
11	Segregation of a PRKCG mutation in two RP11 families. ⁶¹ ⁵⁶	Al-Maghtheh M...Bhattacharya SS	9545390	1998
12	In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. ⁶	Bakondi B...Wang S	26666451	2016
13	Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). ⁶	Ramsden SC...Manson FD	22234150	2012
14	A mutation linked to retinitis pigmentosa in HPRP31 causes protein instability and impairs its interactions with spliceosomal snRNPs. ⁶	Huranova M...Stanek D	19293337	2009
15	Binding of the human Prp31 Nop domain to a composite RNA-protein platform in U4 snRNP. ⁶	Liu S...Wahl MC	17412961	2007
16	Nonsyndromic Retinitis Pigmentosa Overview ⁶	Fahim AT...Weleber RG	20301590	2000
17	Autosomal dominant retinitis pigmentosa locus on chromosome 19q in a Japanese family. ⁵⁶	Xu S...Gal A	8592343	1995
18	Human genetics. Silence speaks in spectrin. ⁵⁶	Gratzer W	7990951	1994
19	Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19. ⁵⁶	al-Maghtheh M...Bhattacharya SS	8004108	1994
20	Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion. ⁵⁶	Evans K...Bhattacharya S	8162077	1994
21	Hypoxia-induced lncRNA RP11-390F4.3 promotes epithelial-mesenchymal transition (EMT) and metastasis through upregulating EMT regulators. ⁶¹	Peng PH...Wu KJ	32353468	2020
22	Correction to: Alleviation of tetrabromobisphenol A toxicity in soybean seedlings by Rhodopseudomonas palustris RP11. ⁶¹	Ge H...Liu Z	32016522	2020
23	Genome-wide screening of functional long noncoding RNAs in the epicardial adipose tissues of atrial fibrillation. ⁶¹	Shi X...Zhang Y	32147422	2020
24	Lnc-M2 controls M2 macrophage differentiation via the PKA/CREB pathway. ⁶¹	Chen Y...Lyu X	32563859	2020
25	Genome-wide association study of rate of cognitive decline in Alzheimer's disease patients identifies novel genes and pathways. ⁶¹	Sherva R...Green RC	32573913	2020
26	Long non-coding RNA RP11-59H7.3 promotes cell proliferation and invasion metastasis in colorectal cancer by miR-139-5p/NOTCH1 axis. ⁶¹	Zhu X...Zhu Z	32507766	2020
27	A landscape of circulating long non-coding RNA (lncRNA) expression profile and the predictive value of candidate lncRNAs for disease risk of knee osteoarthritis. ⁶¹	Liu X...Feng Q	32557900	2020
28	Regulation of laryngeal squamous cell cancer progression by the lncRNA RP11-159K7.2/miR-206/DNMT3A axis. ⁶¹	Wang X...Sun Y	32363688	2020
29	The lncRNA RP11-142A22.4 promotes adipogenesis by sponging miR-587 to modulate Wnt5β expression. ⁶¹	Zhang T...Liu Y	32561739	2020
30	A Novel and Robust Long Noncoding RNA Panel to Predict the Prognosis of Pancreatic Cancer. ⁶¹	Li M...Tan X	32522048	2020
31	RNA Sequencing of Plasma Exosomes Revealed Novel Functional lncRNAs in Hepatocellular Carcinoma. ⁶¹	Huang X...He M	32506598	2020
32	lncRNA- RP11-156p1.3, novel diagnostic and therapeutic targeting via CRISPR/Cas9 editing in hepatocellular carcinoma. ⁶¹	Ali HS...Matboli M	32544548	2020
33	A novel lncRNA PLK4 up-regulated by talazoparib represses hepatocellular carcinoma progression by promoting YAP-mediated cell senescence. ⁶¹	Jia Y...Zheng S	32243714	2020
34	A four-long noncoding RNA signature predicts survival of hepatocellular carcinoma patients. ⁶¹	Jiang H...Sun L	32474975	2020
35	LncRNA RP11-567G11.1 accelerates the proliferation and invasion of renal cell carcinoma through activating the Notch pathway. ⁶¹	Liu S...Huang HD	32432737	2020
36	Microarray expression profiling of long noncoding RNAs in the progesterone-treated lung cancer cells. ⁶¹	Xie M...Chen Q	32391956	2020
37	Long noncoding RNA RP11-626G11.3 promotes the progression of glioma through miR-375-SP1 axis. ⁶¹	Zhang Y...Xu C	32128886	2020
38	Alleviation of tetrabromobisphenol A toxicity in soybean seedlings by Rhodopseudomonas palustris RP1n1. ⁶¹	Ge H...Liu Z	31897538	2020
39	Long non‑coding RNA RP11‑340F14.6 promotes a shift in the Th17/Treg ratio by binding with P2X7R in juvenile idiopathic arthritis. ⁶¹	Huang N...Zhou X	32467993	2020
40	Genetic determinants of reduced arsenic metabolism efficiency in the 10q24.32 region are associated with reduced AS3MT expression in multiple human tissue types. ⁶¹	Chernoff M...Pierce BL	32433756	2020
41	PRKCSH Alternative Splicing Involves in Silica-Induced Expression of Epithelial-Mesenchymal Transition Markers and Cell Proliferation. ⁶¹	Huang R...Zhou PK	32425726	2020
42	MIR205HG facilitates carcinogenesis of lung squamous cell carcinoma in vitro revealed by long noncoding RNA profiling. ⁶¹	Chang Y...Chen L	32188965	2020
43	RP11-81H3.2 promotes gastric cancer progression through miR-339-HNRNPA1 interaction network. ⁶¹	Chen FR...Zhang J	32052594	2020
44	A novel RNA sequencing-based risk score model to predict papillary thyroid carcinoma recurrence. ⁶¹	He J...Yang J	31792675	2020
45	LncRNA RP11-361F15.2 promotes osteosarcoma tumorigenesis by inhibiting M2-Like polarization of tumor-associated macrophages of CPEB4. ⁶¹	Yang D...Zhang X	31904478	2020
46	Overexpression of long non-coding RNA RP11-363E7.4 inhibits proliferation and invasion in gastric cancer. ⁶¹	Chen C...Zhu J	32141108	2020
47	Polymorphisms of a novel long non-coding RNA RP11-108K3.2 with colorectal cancer susceptibility and their effects on its expression. ⁶¹	Jiang D...Chen K	31789575	2020
48	Long non-coding RNA RP11-820 promotes extracellular matrix production via regulating miR-3178/MYOD1 in human trabecular meshwork cells. ⁶¹	Shen W...Yang J	31495061	2020
49	A pilot study of lncRNAs expression profile in serum of progressive multiple sclerosis patients. ⁶¹	Santoro M...Mirabella M	32271444	2020
50	Integrated analysis of a ceRNA network reveals potential prognostic lncRNAs in gastric cancer. ⁶¹	Qi M...Li F	31923354	2020

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Genes for Retinitis Pigmentosa 11

Genes related to Retinitis Pigmentosa 11 (1 elite genes):

(show top 50) (show all 62)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PRPF31	Pre-MRNA Processing Factor 31	Protein Coding	1334.6	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	17412961 8025041 12923864 (more) 5764686 11545739 17325180 20301590 9345108 19618371 19293337 26666451 16708387 8808602 22234150
2	LUC7L2	LUC7 Like 2, Pre-MRNA Splicing Factor	Protein Coding	9.48	DISEASES inferred ¹⁵ ¹⁵
3	SLC27A5	Solute Carrier Family 27 Member 5	Protein Coding	8.77	DISEASES inferred ¹⁵
4	KDM4C	Lysine Demethylase 4C	Protein Coding	8.32	DISEASES inferred ¹⁵ ¹⁵
5	TMSB15A	Thymosin Beta 15a	Protein Coding	8.21	DISEASES inferred ¹⁵ ¹⁵
6	GPR20	G Protein-Coupled Receptor 20	Protein Coding	8.08	DISEASES inferred ¹⁵ ¹⁵
7	MIR335	MicroRNA 335	RNA Gene	7.81	DISEASES inferred ¹⁵ ¹⁵
8	PRODH	Proline Dehydrogenase 1	Protein Coding	7.68	DISEASES inferred ¹⁵ ¹⁵
9	H2AC18	H2A Clustered Histone 18	Protein Coding	7.67	DISEASES inferred ¹⁵ ¹⁵
10	MIR296	MicroRNA 296	RNA Gene	7.41	DISEASES inferred ¹⁵ ¹⁵
11	CCND2-AS1	CCND2 Antisense RNA 1	RNA Gene	7.28	DISEASES inferred ¹⁵ ¹⁵
12	RP9	RP9 Pre-MRNA Splicing Factor	Protein Coding	6.78	DISEASES inferred ¹⁵
13	MIR146A	MicroRNA 146a	RNA Gene	6.65	DISEASES inferred ¹⁵ ¹⁵
14	XIST	X Inactive Specific Transcript	RNA Gene	6.59	DISEASES inferred ¹⁵
15	SDHC	Succinate Dehydrogenase Complex Subunit C	Protein Coding	6.47	DISEASES inferred ¹⁵
16	GAPDH	Glyceraldehyde-3-Phosphate Dehydrogenase	Protein Coding	6.47	DISEASES inferred ¹⁵
17	YARS1	Tyrosyl-TRNA Synthetase 1	Protein Coding	6.43	DISEASES inferred ¹⁵
18	HOTAIR	HOX Transcript Antisense RNA	RNA Gene	6.35	DISEASES inferred ¹⁵
19	TMPRSS2	Transmembrane Serine Protease 2	Protein Coding	6.34	DISEASES inferred ¹⁵
20	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	6.34	DISEASES inferred ¹⁵
21	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	6.2	DISEASES inferred ¹⁵
22	CDC42EP3	CDC42 Effector Protein 3	Protein Coding	6.19	DISEASES inferred ¹⁵
23	CENPA	Centromere Protein A	Protein Coding	6.18	DISEASES inferred ¹⁵
24	NEAT1	Nuclear Paraspeckle Assembly Transcript 1	RNA Gene	6.18	DISEASES inferred ¹⁵
25	PVT1	Pvt1 Oncogene	RNA Gene	6.17	DISEASES inferred ¹⁵
26	PTER	Phosphotriesterase Related	Protein Coding	6.1	DISEASES inferred ¹⁵
27	TP53	Tumor Protein P53	Protein Coding	6.06	DISEASES inferred ¹⁵
28	PRPF3	Pre-MRNA Processing Factor 3	Protein Coding	6.05	DISEASES inferred ¹⁵
29	SDCBP2-AS1	SDCBP2 Antisense RNA 1	RNA Gene	6.05	DISEASES inferred ¹⁵
30	SNCA	Synuclein Alpha	Protein Coding	6.04	DISEASES inferred ¹⁵
31	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	6.03	DISEASES inferred ¹⁵
32	ACTB	Actin Beta	Protein Coding	6.02	DISEASES inferred ¹⁵
33	LOC102546299	Uncharacterized LOC102546299	RNA Gene	6.02	DISEASES inferred ¹⁵
34	LINC00940	Long Intergenic Non-Protein Coding RNA 940	RNA Gene	6.01	DISEASES inferred ¹⁵
35	ZNF705B	Zinc Finger Protein 705B	Protein Coding	6.01	DISEASES inferred ¹⁵
36	ZNF705D	Zinc Finger Protein 705D	Protein Coding	6.01	DISEASES inferred ¹⁵
37	LINC01564	Long Intergenic Non-Protein Coding RNA 1564	RNA Gene	6	DISEASES inferred ¹⁵
38	ENSG00000261610		RNA Gene	5.95	DISEASES inferred ¹⁵
39	PTEN	Phosphatase And Tensin Homolog	Protein Coding	5.95	DISEASES inferred ¹⁵
40	ENSG00000236106		RNA Gene	5.95	DISEASES inferred ¹⁵
41	ENSG00000278924		Uncategorized	5.93	DISEASES inferred ¹⁵
42	UBTF	Upstream Binding Transcription Factor	Protein Coding	5.92	DISEASES inferred ¹⁵
43	LINC01297	Long Intergenic Non-Protein Coding RNA 1297	RNA Gene	5.89	DISEASES inferred ¹⁵
44	LINC02600	Long Intergenic Non-Protein Coding RNA 2600	RNA Gene	5.89	DISEASES inferred ¹⁵
45	CENPB	Centromere Protein B	Protein Coding	5.88	DISEASES inferred ¹⁵
46	UMAD1	UBAP1-MVB12-Associated (UMA) Domain Containing 1	Protein Coding	5.87	DISEASES inferred ¹⁵
47	UCA1	Urothelial Cancer Associated 1	RNA Gene	5.86	DISEASES inferred ¹⁵
48	LINC00942	Long Intergenic Non-Protein Coding RNA 942	RNA Gene	5.84	DISEASES inferred ¹⁵
49	FAM225A	Family With Sequence Similarity 225 Member A	RNA Gene	5.84	DISEASES inferred ¹⁵
50	MIR22HG	MIR22 Host Gene	RNA Gene	5.81	DISEASES inferred ¹⁵

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Variations for Retinitis Pigmentosa 11

ClinVar genetic disease variations for Retinitis Pigmentosa 11:

⁶ (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	PRPF31	NM_015629.4(PRPF31):c.1291C>T (p.Gln431Ter)	SNV	Pathogenic	560487	rs1568600184	19:54632662-54632662	19:54129287-54129287
2	PRPF31	GRCh37/hg19 19q13.42(chr19:54618744-54622073)x1	copy number loss	Pathogenic	599085		19:54618744-54622073
3	PRPF31	PRPF31, 33-BP INS, NT580	insertion	Pathogenic	4363
4	PRPF31	NM_015629.4(PRPF31):c.770dup (p.Thr258fs)	duplication	Pathogenic	4364		19:54627948-54627949	19:54124569-54124570
5	PRPF31	NM_015629.4(PRPF31):c.1115_1125del (p.Arg372fs)	deletion	Pathogenic	4358	rs587776589	19:54631719-54631729	19:54128344-54128354
6	PRPF31	NM_015629.4(PRPF31):c.646G>C (p.Ala216Pro)	SNV	Pathogenic	4359	rs119475042	19:54627246-54627246	19:54123867-54123867
7	PRPF31	NM_015629.4(PRPF31):c.527+3A>G	SNV	Pathogenic	4360	rs587776590	19:54626942-54626942	19:54123563-54123563
8	PRPF31	PRPF31, IVS6AS, 42-BP DEL, -3	deletion	Pathogenic	4361
9	PRPF31	NM_015629.4(PRPF31):c.581C>A (p.Ala194Glu)	SNV	Pathogenic	4362	rs119475043	19:54627181-54627181	19:54123802-54123802
10	PRPF31	NM_015629.4(PRPF31):c.332_343del (p.His111_Ile114del)	deletion	Pathogenic	4365		19:54625879-54625890	19:54122500-54122511
11	PRPF31	NM_015629.4(PRPF31):c.1374+654C>G	SNV	Pathogenic	4366	rs587776591	19:54633399-54633399	19:54130024-54130024
12	PRPF31	NM_015629.4(PRPF31):c.904del (p.Ala302Glnfs)	deletion	Likely pathogenic	444485	rs1555793828	19:54629950-54629950	19:54126575-54126575
13	PRPF31	NM_015629.4(PRPF31):c.910C>T (p.Arg304Cys)	SNV	Likely pathogenic	560488	rs750340477	19:54629957-54629957	19:54126582-54126582
14	PRPF31	NM_015629.4(PRPF31):c.1110_1117del (p.Ile371fs)	deletion	Likely pathogenic	829897		19:54631712-54631719	19:54128337-54128344
15	PRPF31	NM_015629.4(PRPF31):c.527+9G>T	SNV	Conflicting interpretations of pathogenicity	198220	rs376994481	19:54626948-54626948	19:54123569-54123569
16	PRPF31	NM_015629.4(PRPF31):c.632G>A (p.Arg211Gln)	SNV	Uncertain significance	500443	rs201806410	19:54627232-54627232	19:54123853-54123853
17	PRPF31	NM_015629.4(PRPF31):c.1007C>G (p.Pro336Arg)	SNV	Uncertain significance	522515	rs1555794210	19:54631509-54631509	19:54128134-54128134
18	PRPF31	NM_015629.4(PRPF31):c.1140C>T (p.Phe380=)	SNV	Uncertain significance	623966	rs1411083098	19:54631746-54631746	19:54128371-54128371
19	PRPF31	NM_015629.4(PRPF31):c.935C>T (p.Thr312Ile)	SNV	Uncertain significance	811919		19:54629982-54629982	19:54126607-54126607

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 11:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	PRPF31	p.Ala194Glu	VAR_025630	rs119475043
2	PRPF31	p.Ala216Pro	VAR_025631	rs119475042

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Expression for Retinitis Pigmentosa 11

Search GEO for disease gene expression data for Retinitis Pigmentosa 11.

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Pathways for Retinitis Pigmentosa 11

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GO Terms for Retinitis Pigmentosa 11

Biological processes related to Retinitis Pigmentosa 11 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of stem cell differentiation	GO:2000736	8.62	MIR146A KDM4C

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Retinitis Pigmentosa 11 (RP11)

Aliases & Classifications for Retinitis Pigmentosa 11

MalaCards integrated aliases for Retinitis Pigmentosa 11:

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Expression for Retinitis Pigmentosa 11

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Biological processes related to Retinitis Pigmentosa 11 according to GeneCards Suite gene sharing:

Sources for Retinitis Pigmentosa 11