Retinitis Pigmentosa 37 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

RP37 MCID: RTN157 MIFTS: 35	Retinitis Pigmentosa 37 (RP37) Categories: Ear diseases, Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Retinitis Pigmentosa 37

MalaCards integrated aliases for Retinitis Pigmentosa 37:

Name: Retinitis Pigmentosa 37 ⁵⁷ ¹² ⁷² ²⁹ ¹³ ⁶ ¹⁵ ⁷⁰

Rp37 ⁵⁷ ¹² ⁷²

Retinitis Pigmentosa, Type 37 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
allelic to enhanced s-cone syndrome
onset of symptoms age 5-30

HPO:

³¹

retinitis pigmentosa 37:
Inheritance autosomal dominant inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases Nephrological diseases Ear 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:0110399

OMIM® ⁵⁷ 611131

OMIM Phenotypic Series ⁵⁷ PS268000

MeSH ⁴⁴ D012174

ICD10 ³² H35.5

MedGen ⁴¹ C1970163

SNOMED-CT via HPO ⁶⁸ 128306009 14046000 193570009 more

UMLS ⁷⁰ C1970163

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Summaries for Retinitis Pigmentosa 37

UniProtKB/Swiss-Prot : ⁷² Retinitis pigmentosa 37: 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 37, also known as rp37, is related to enhanced s-cone syndrome and eye degenerative disease, and has symptoms including photophobia An important gene associated with Retinitis Pigmentosa 37 is NR2E3 (Nuclear Receptor Subfamily 2 Group E Member 3), and among its related pathways/superpathways is Nuclear Receptor transcription pathway. Affiliated tissues include eye, retina and bone, and related phenotypes are cataract and photophobia

Disease Ontology : ¹² A retinitis pigmentosa that has material basis in mutation in the NR2E3 gene on chromosome 15q23.

More information from OMIM: 611131 PS268000

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Related Diseases for Retinitis Pigmentosa 37

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 37 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	enhanced s-cone syndrome	9.9	NR2E3 NR2E1
2	eye degenerative disease	9.8	RP9 NR2E3
3	hermansky-pudlak syndrome 1	9.7	SEC31B CFAP46

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Symptoms & Phenotypes for Retinitis Pigmentosa 37

Human phenotypes related to Retinitis Pigmentosa 37:

³¹ (show all 9)

#	Description	HPO Source Accession
1	cataract ³¹	HP:0000518
2	photophobia ³¹	HP:0000613
3	nyctalopia ³¹	HP:0000662
4	rod-cone dystrophy ³¹	HP:0000510
5	pigmentary retinopathy ³¹	HP:0000580
6	cystoid macular degeneration ³¹	HP:0008028
7	tritanomaly ³¹	HP:0000552
8	red-green dyschromatopsia ³¹	HP:0000642
9	undetectable light- and dark-adapted electroretinogram ³¹	HP:0007688

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Head And Neck Eyes:
cataract
photophobia
cystoid macular degeneration
night blindness
blue/yellow color vision defect
more

Clinical features from OMIM®:

611131 (Updated 05-Apr-2021)

UMLS symptoms related to Retinitis Pigmentosa 37:

photophobia

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Drugs & Therapeutics for Retinitis Pigmentosa 37

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 37

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Genetic Tests for Retinitis Pigmentosa 37

Genetic tests related to Retinitis Pigmentosa 37:

#	Genetic test	Affiliating Genes
1	Retinitis Pigmentosa 37 ²⁹	NR2E3

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Anatomical Context for Retinitis Pigmentosa 37

MalaCards organs/tissues related to Retinitis Pigmentosa 37:

⁴⁰

Eye, Retina, Bone

Sources

Publications for Retinitis Pigmentosa 37

Articles related to Retinitis Pigmentosa 37:

(show all 21)

#	Title	Authors	PMID	Year
1	Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa. ⁶ ⁵⁷	Kannabiran C...Mohan G	22605927	2012
2	Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. ⁶ ⁵⁷	Bernal S...Baiget M	18294254	2008
3	Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. ⁵⁷ ⁶	Coppieters F...De Baere E	17564971	2007
4	Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. ⁶ ⁵⁷	Haider NB...Sheffield VC	10655056	2000
5	Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. ⁶	Bravo-Gil N...Antinolo G	27032803	2016
6	Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. ⁶	Wang J...Wong LJ	25097241	2014
7	Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. ⁶	Glockle N...Neidhardt J	23591405	2014
8	The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation. ⁶	Tan MH...Xu HE	24069298	2013
9	Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome. ⁶	Udar N...Marmor M	21364904	2011
10	A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3. ⁶	Kanda A...Swaroop A	19898638	2009
11	Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. ⁶	Escher P...Schorderet DF	19006237	2009
12	The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients. ⁶	Bandah D...Sharon D	19273793	2009
13	The loss of transcriptional inhibition by the photoreceptor-cell specific nuclear receptor (NR2E3) is not a necessary cause of enhanced S-cone syndrome. ⁶	Fradot M...Leveillard T	17438525	2007
14	The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes. ⁶	Peng GH...Chen S	15689355	2005
15	Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. ⁶	Wright AF...Swaroop A	15459973	2004
16	Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. ⁶	Sharon D...Dryja TP	12963616	2003
17	The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration. ⁶	Milam AH...Jacobson SG	11773633	2002
18	The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition. ⁶	Gerber S...Kaplan J	11071390	2000
19	Colonization of Germ-Free Piglets with Mucinolytic and Non-Mucinolytic Bifidobacterium boum Strains Isolated from the Intestine of Wild Boar and Their Interference with Salmonella Typhimurium. ⁶¹	Splichalova A...Splichal I	33333934	2020
20	The C-terminal end of the capsid protein of Avian Nephritis Virus is antigenic and induces broadly cross-reactive antibodies. ⁶¹	Hewson KA...Ignjatovic J	25934419	2015
21	The relationship of macular pigment optical density to serum lutein in retinitis pigmentosa. ⁶¹	Sandberg MA...Berson EL	19797209	2010

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Genes for Retinitis Pigmentosa 37

Genes related to Retinitis Pigmentosa 37 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NR2E3	Nuclear Receptor Subfamily 2 Group E Member 3	Protein Coding	1351.02	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	18294254
2	RP9	RP9 Pre-MRNA Splicing Factor	Protein Coding	6.95	DISEASES inferred ¹⁵
3	MYO1A	Myosin IA	Protein Coding	6.26	DISEASES inferred ¹⁵
4	SEC31B	SEC31 Homolog B, COPII Coat Complex Component	Protein Coding	6.01	DISEASES inferred ¹⁵
5	FHL3	Four And A Half LIM Domains 3	Protein Coding	6	DISEASES inferred ¹⁵
6	CFAP46	Cilia And Flagella Associated Protein 46	Protein Coding	5.66	DISEASES inferred ¹⁵
7	TRIM25	Tripartite Motif Containing 25	Protein Coding	5.5	DISEASES inferred ¹⁵
8	NR2E1	Nuclear Receptor Subfamily 2 Group E Member 1	Protein Coding	5.46	DISEASES inferred ¹⁵

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Variations for Retinitis Pigmentosa 37

ClinVar genetic disease variations for Retinitis Pigmentosa 37:

⁶ (show all 50)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	NR2E3	NM_014249.4(NR2E3):c.1034_1038del (p.Ala344_Leu345insTer)	Deletion	Pathogenic	5534	rs1567160967	GRCh37: 15:72106392-72106396 GRCh38: 15:71814051-71814055
2	NR2E3	NM_014249.4(NR2E3):c.143_144delinsAGTGTGCCTCCAGTGCCTCGCTCCA (p.Arg48fs)	Indel	Pathogenic	183143	rs730882149	GRCh37: 15:72103847-72103848 GRCh38: 15:71811507-71811508
3	NR2E3	NM_014249.4(NR2E3):c.119-2A>C	SNV	Pathogenic	191059	rs2723341	GRCh37: 15:72103821-72103821 GRCh38: 15:71811481-71811481
4	NR2E3	NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)	SNV	Pathogenic	5532	rs28937873	GRCh37: 15:72105913-72105913 GRCh38: 15:71813573-71813573
5	NR2E3	NM_014249.4(NR2E3):c.119-2A>C	SNV	Pathogenic	191059	rs2723341	GRCh37: 15:72103821-72103821 GRCh38: 15:71811481-71811481
6	NR2E3	NM_014249.4(NR2E3):c.926G>T (p.Arg309Leu)	SNV	Likely pathogenic	191062	rs761628767	GRCh37: 15:72105907-72105907 GRCh38: 15:71813567-71813567
7	NR2E3	NM_014249.4(NR2E3):c.194_202del (p.Asn65_Cys67del)	Deletion	Likely pathogenic	551852	rs1555454566	GRCh37: 15:72103893-72103901 GRCh38: 15:71811553-71811561
8	NR2E3	NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg)	SNV	Likely pathogenic	5533	rs121912631	GRCh37: 15:72103870-72103870 GRCh38: 15:71811530-71811530
9	NR2E3	NM_014249.4(NR2E3):c.131C>T (p.Ser44Leu)	SNV	Uncertain significance	426441	rs202098481	GRCh37: 15:72103835-72103835 GRCh38: 15:71811495-71811495
10	NR2E3	NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln)	SNV	Uncertain significance	5530	rs104894493	GRCh37: 15:72103931-72103931 GRCh38: 15:71811591-71811591
11	NR2E3	NM_014249.4(NR2E3):c.170A>G (p.Lys57Arg)	SNV	Uncertain significance	558411	rs563014885	GRCh37: 15:72103874-72103874 GRCh38: 15:71811534-71811534
12	NR2E3	NM_014249.4(NR2E3):c.230G>A (p.Arg77Gln)	SNV	Uncertain significance	286837	rs186714117	GRCh37: 15:72103934-72103934 GRCh38: 15:71811594-71811594
13	NR2E3	NM_014249.4(NR2E3):c.454C>T (p.Pro152Ser)	SNV	Uncertain significance	552825	rs1261697277	GRCh37: 15:72104399-72104399 GRCh38: 15:71812059-71812059
14	NR2E3	NM_014249.4(NR2E3):c.859G>A (p.Gly287Ser)	SNV	Uncertain significance	887281		GRCh37: 15:72105840-72105840 GRCh38: 15:71813500-71813500
15	NR2E3	NM_014249.4(NR2E3):c.925C>T (p.Arg309Trp)	SNV	Uncertain significance	884317		GRCh37: 15:72105906-72105906 GRCh38: 15:71813566-71813566
16	NR2E3	NM_014249.4(NR2E3):c.677G>A (p.Arg226His)	SNV	Uncertain significance	554361	rs544290323	GRCh37: 15:72104781-72104781 GRCh38: 15:71812441-71812441
17	NR2E3	NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys)	SNV	Uncertain significance	143147	rs527236086	GRCh37: 15:72104309-72104309 GRCh38: 15:71811969-71811969
18	NR2E3	NM_014249.4(NR2E3):c.524C>G (p.Ala175Gly)	SNV	Uncertain significance	554716	rs567617489	GRCh37: 15:72104469-72104469 GRCh38: 15:71812129-71812129
19	NR2E3	NM_014249.4(NR2E3):c.119-6C>T	SNV	Uncertain significance	556393	rs745910334	GRCh37: 15:72103817-72103817 GRCh38: 15:71811477-71811477
20	NR2E3	NM_014249.4(NR2E3):c.666G>C (p.Glu222Asp)	SNV	Uncertain significance	317018	rs759765652	GRCh37: 15:72104770-72104770 GRCh38: 15:71812430-71812430
21	NR2E3	NM_014249.4(NR2E3):c.571G>A (p.Ala191Thr)	SNV	Uncertain significance	317016	rs779518180	GRCh37: 15:72104516-72104516 GRCh38: 15:71812176-71812176
22	NR2E3	NM_014249.4(NR2E3):c.1195C>A (p.Pro399Thr)	SNV	Uncertain significance	552868	rs199564404	GRCh37: 15:72109987-72109987 GRCh38: 15:71817646-71817646
23	NR2E3	NM_014249.4(NR2E3):c.349+7C>T	SNV	Uncertain significance	787123	rs900547	GRCh37: 15:72104216-72104216 GRCh38: 15:71811876-71811876
24	NR2E3	NM_014249.4(NR2E3):c.-10C>T	SNV	Uncertain significance	550918	rs771015928	GRCh37: 15:72103074-72103074 GRCh38: 15:71810734-71810734
25	NR2E3	NM_014249.4(NR2E3):c.1062C>G (p.Ser354Arg)	SNV	Uncertain significance	551741	rs777512062	GRCh37: 15:72106420-72106420 GRCh38: 15:71814079-71814079
26	NR2E3	NM_014249.4(NR2E3):c.998C>T (p.Thr333Met)	SNV	Uncertain significance	551766	rs554638593	GRCh37: 15:72106356-72106356 GRCh38: 15:71814015-71814015
27	NR2E3	NM_014249.4(NR2E3):c.264G>T (p.Gly88=)	SNV	Uncertain significance	317007	rs558123422	GRCh37: 15:72104124-72104124 GRCh38: 15:71811784-71811784
28	NR2E3	NM_014249.4(NR2E3):c.899C>T (p.Thr300Met)	SNV	Uncertain significance	558336	rs374016332	GRCh37: 15:72105880-72105880 GRCh38: 15:71813540-71813540
29	NR2E3	NM_014249.4(NR2E3):c.1101-10T>C	SNV	Uncertain significance	558406	rs763647845	GRCh37: 15:72109883-72109883 GRCh38: 15:71817542-71817542
30	NR2E3	NM_014249.4(NR2E3):c.767C>T (p.Ala256Val)	SNV	Uncertain significance	844032		GRCh37: 15:72105748-72105748 GRCh38: 15:71813408-71813408
31	NR2E3	NM_014249.4(NR2E3):c.843C>T (p.Pro281=)	SNV	Uncertain significance	740115	rs555211505	GRCh37: 15:72105824-72105824 GRCh38: 15:71813484-71813484
32	NR2E3	NM_014249.4(NR2E3):c.361G>A (p.Glu121Lys)	SNV	Likely benign	143146	rs146403122	GRCh37: 15:72104306-72104306 GRCh38: 15:71811966-71811966
33	NR2E3	NM_014249.4(NR2E3):c.*567C>A	SNV	Likely benign	887402		GRCh37: 15:72110592-72110592 GRCh38: 15:71818251-71818251
34	NR2E3	NM_014249.4(NR2E3):c.858C>T (p.Ala286=)	SNV	Likely benign	553094	rs566024312	GRCh37: 15:72105839-72105839 GRCh38: 15:71813499-71813499
35	NR2E3	NM_014249.4(NR2E3):c.450G>A (p.Pro150=)	SNV	Likely benign	552858	rs746581775	GRCh37: 15:72104395-72104395 GRCh38: 15:71812055-71812055
36	NR2E3	NM_014249.4(NR2E3):c.694G>A (p.Val232Ile)	SNV	Likely benign	260368	rs1805023	GRCh37: 15:72104798-72104798 GRCh38: 15:71812458-71812458
37	NR2E3	NM_014249.4(NR2E3):c.571+65C>T	SNV	Likely benign	552563	rs538878781	GRCh37: 15:72104581-72104581 GRCh38: 15:71812241-71812241
38	NR2E3	NM_014249.4(NR2E3):c.45A>G (p.Ala15=)	SNV	Likely benign	552215	rs752130237	GRCh37: 15:72103128-72103128 GRCh38: 15:71810788-71810788
39	NR2E3	NM_014249.4(NR2E3):c.571+44C>G	SNV	Likely benign	556622	rs372602322	GRCh37: 15:72104560-72104560 GRCh38: 15:71812220-71812220
40	NR2E3	NM_014249.4(NR2E3):c.350-31C>T	SNV	Likely benign	556954	rs1322109793	GRCh37: 15:72104264-72104264 GRCh38: 15:71811924-71811924
41	NR2E3	NM_014249.4(NR2E3):c.245+8C>T	SNV	Likely benign	95580	rs9920371	GRCh37: 15:72103957-72103957 GRCh38: 15:71811617-71811617
42	NR2E3	NM_014249.4(NR2E3):c.350-26C>T	SNV	Likely benign	557395	rs1048078452	GRCh37: 15:72104269-72104269 GRCh38: 15:71811929-71811929
43	NR2E3	NM_014249.4(NR2E3):c.571+51C>T	SNV	Likely benign	557451	rs200759758	GRCh37: 15:72104567-72104567 GRCh38: 15:71812227-71812227
44	NR2E3	NM_014249.4(NR2E3):c.183C>T (p.Ile61=)	SNV	Likely benign	557608	rs771404428	GRCh37: 15:72103887-72103887 GRCh38: 15:71811547-71811547
45	NR2E3	NM_014249.4(NR2E3):c.747+10G>A	SNV	Likely benign	555217	rs780825147	GRCh37: 15:72104861-72104861 GRCh38: 15:71812521-71812521
46	NR2E3	NM_014249.4(NR2E3):c.1095C>T (p.Pro365=)	SNV	Benign	95579	rs35004053	GRCh37: 15:72106453-72106453 GRCh38: 15:71814112-71814112
47	NR2E3	NM_014249.4(NR2E3):c.904G>A (p.Val302Ile)	SNV	Benign	497063	rs1805025	GRCh37: 15:72105885-72105885 GRCh38: 15:71813545-71813545
48	NR2E3	NM_014249.4(NR2E3):c.333G>A (p.Ala111=)	SNV	Benign	787122	rs900546	GRCh37: 15:72104193-72104193 GRCh38: 15:71811853-71811853
49	NR2E3	NM_014249.4(NR2E3):c.694G>A (p.Val232Ile)	SNV	Benign	260368	rs1805023	GRCh37: 15:72104798-72104798 GRCh38: 15:71812458-71812458
50	NR2E3	NM_014249.4(NR2E3):c.245+8C>T	SNV	Benign	95580	rs9920371	GRCh37: 15:72103957-72103957 GRCh38: 15:71811617-71811617

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 37:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	NR2E3	p.Gly56Arg	VAR_037026	rs121912631

Sources

Expression for Retinitis Pigmentosa 37

Search GEO for disease gene expression data for Retinitis Pigmentosa 37.

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Pathways for Retinitis Pigmentosa 37

Pathways related to Retinitis Pigmentosa 37 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Nuclear Receptor transcription pathway ⁶⁵ Show member pathways Nuclear Receptors ¹	10.58	NR2E3 NR2E1

Sources

GO Terms for Retinitis Pigmentosa 37

Biological processes related to Retinitis Pigmentosa 37 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	retina development in camera-type eye	GO:0060041	9.26	NR2E3 NR2E1
2	anatomical structure development	GO:0048856	9.16	NR2E3 NR2E1
3	intracellular receptor signaling pathway	GO:0030522	8.96	NR2E3 NR2E1
4	steroid hormone mediated signaling pathway	GO:0043401	8.62	NR2E3 NR2E1

Molecular functions related to Retinitis Pigmentosa 37 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nuclear receptor activity	GO:0004879	8.96	NR2E3 NR2E1
2	steroid hormone receptor activity	GO:0003707	8.62	NR2E3 NR2E1

Sources

Sources for Retinitis Pigmentosa 37

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

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Retinitis Pigmentosa 37 (RP37)

Aliases & Classifications for Retinitis Pigmentosa 37

MalaCards integrated aliases for Retinitis Pigmentosa 37:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Retinitis Pigmentosa 37

Related Diseases for Retinitis Pigmentosa 37

Diseases in the Retinitis Pigmentosa family:

Diseases related to Retinitis Pigmentosa 37 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Retinitis Pigmentosa 37

Human phenotypes related to Retinitis Pigmentosa 37:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Retinitis Pigmentosa 37:

Drugs & Therapeutics for Retinitis Pigmentosa 37

Genetic Tests for Retinitis Pigmentosa 37

Genetic tests related to Retinitis Pigmentosa 37:

Anatomical Context for Retinitis Pigmentosa 37

MalaCards organs/tissues related to Retinitis Pigmentosa 37:

Publications for Retinitis Pigmentosa 37

Articles related to Retinitis Pigmentosa 37:

Genes for Retinitis Pigmentosa 37

Genes related to Retinitis Pigmentosa 37 (1 elite genes):

Variations for Retinitis Pigmentosa 37

ClinVar genetic disease variations for Retinitis Pigmentosa 37:

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 37:

Expression for Retinitis Pigmentosa 37

Pathways for Retinitis Pigmentosa 37

Pathways related to Retinitis Pigmentosa 37 according to GeneCards Suite gene sharing:

GO Terms for Retinitis Pigmentosa 37

Biological processes related to Retinitis Pigmentosa 37 according to GeneCards Suite gene sharing:

Molecular functions related to Retinitis Pigmentosa 37 according to GeneCards Suite gene sharing:

Sources for Retinitis Pigmentosa 37