Retinitis Pigmentosa 39 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

RP39 MCID: RTN141 MIFTS: 38	Retinitis Pigmentosa 39 (RP39) 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 39

MalaCards integrated aliases for Retinitis Pigmentosa 39:

Name: Retinitis Pigmentosa 39 ⁵⁶ ¹² ⁷³ ²⁹ ¹³ ⁶ ¹⁵ ⁷¹

Rp39 ⁵⁶ ¹² ⁷³

Retinitis Pigmentosa, Type 39 ³⁹

Characteristics:

HPO:

³¹

retinitis pigmentosa 39:
Inheritance autosomal recessive inheritance

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:0110360

OMIM ⁵⁶ 613809

OMIM Phenotypic Series ⁵⁶ PS268000

MeSH ⁴³ D012174

ICD10 ³² H35.5

MedGen ⁴¹ C3151138

SNOMED-CT via HPO ⁶⁸ 12184005 258211005 274524001 more

UMLS ⁷¹ C3151138

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Summaries for Retinitis Pigmentosa 39

UniProtKB/Swiss-Prot : ⁷³ Retinitis pigmentosa 39: 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 39, also known as rp39, is related to chronic pain and yemenite deaf-blind hypopigmentation syndrome. An important gene associated with Retinitis Pigmentosa 39 is USH2A (Usherin). Affiliated tissues include retina, eye and bone, and related phenotypes are abnormal electroretinogram and rod-cone dystrophy

Disease Ontology : ¹² A retinitis pigmentosa that has material basis in mutation in the USH2A gene on chromosome 1q41.

More information from OMIM: 613809 PS268000

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Related Diseases for Retinitis Pigmentosa 39

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

(show all 26)

#	Related Disease	Score	Top Affiliating Genes
1	chronic pain	10.2	USH2A-AS2 USH2A
2	yemenite deaf-blind hypopigmentation syndrome	10.1	USH2A RPGR
3	choroid disease	10.1	USH2A RPGR
4	late-onset retinal degeneration	10.0	USH2A RPGR
5	choroideremia	10.0	USH2A RPGR
6	rare genetic deafness	10.0	USH2A-AS2 USH2A-AS1 USH2A
7	retinitis pigmentosa 7	9.9	RPGR RGS9BP
8	schimmelpenning-feuerstein-mims syndrome	9.9	RGS9BP CMPK2
9	cone dystrophy	9.9	USH2A RPGR
10	usher syndrome type 2	9.9	USH2A-AS2 USH2A RPGR
11	enhanced s-cone syndrome	9.9	RPGR RGS9BP
12	retinitis pigmentosa 28	9.9	RPGR RAB28
13	senior-loken syndrome 1	9.8	USH2A RPGR
14	digenic disease	9.8	USH2A PDE6G
15	fundus albipunctatus	9.8	RPGR RGS9BP
16	retinitis pigmentosa 1	9.7	RPGR PDE6G
17	usher syndrome	9.7	USH2A-AS2 USH2A-AS1 USH2A RPGR
18	retinal degeneration	9.4	USH2A RPGR PDE6G
19	achromatopsia	9.3	USH2A RPGR RGS9BP RAB28
20	cone-rod dystrophy 6	9.3	RPGR PDE6G
21	congenital stationary night blindness	9.2	USH2A RPGR RGS9BP PDE6G
22	leber plus disease	9.1	USH2A RPGR RGS9BP PDE6G
23	oguchi disease 1	8.9	RGS9BP RAB8B RAB28 PDE6G
24	oguchi disease 2	8.9	RGS9BP RAB8B RAB28 PDE6G
25	fundus dystrophy	8.7	USH2A RPGR RGS9BP RAB28 PDE6G
26	retinitis pigmentosa	8.2	USH2A-AS2 USH2A-AS1 USH2A RPGR RGS9BP RAB28

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 39:

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Symptoms & Phenotypes for Retinitis Pigmentosa 39

Human phenotypes related to Retinitis Pigmentosa 39:

³¹

#	Description	HPO Source Accession
1	abnormal electroretinogram ³¹	HP:0000512
2	rod-cone dystrophy ³¹	HP:0000510
3	visual field defect ³¹	HP:0001123
4	attenuation of retinal blood vessels ³¹	HP:0007843
5	bone spicule pigmentation of the retina ³¹	HP:0007737

Clinical features from OMIM:

613809

MGI Mouse Phenotypes related to Retinitis Pigmentosa 39:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	vision/eye	MP:0005391	9.1	PDE6G RAB28 RAB8B RGS9BP RPGR USH2A

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Drugs & Therapeutics for Retinitis Pigmentosa 39

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Rate of Progression in USH2A-related Retinal Degeneration	Active, not recruiting	NCT03146078

Search NIH Clinical Center for Retinitis Pigmentosa 39

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Genetic Tests for Retinitis Pigmentosa 39

Genetic tests related to Retinitis Pigmentosa 39:

#	Genetic test	Affiliating Genes
1	Retinitis Pigmentosa 39 ²⁹	USH2A

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Anatomical Context for Retinitis Pigmentosa 39

MalaCards organs/tissues related to Retinitis Pigmentosa 39:

⁴⁰

Retina, Eye, Bone

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Publications for Retinitis Pigmentosa 39

Articles related to Retinitis Pigmentosa 39:

(show all 12)

#	Title	Authors	PMID	Year
1	Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. ⁶ ⁵⁶	Kaiserman N...Sharon D	17296898	2007
2	Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A. ⁵⁶ ⁶	Rivolta C...Dryja TP	12427073	2002
3	Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. ⁶ ⁵⁶	Rivolta C...Dryja TP	10775529	2000
4	Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families. ⁶	Perez-Carro R...Ayuso C	29912909	2018
5	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
6	A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. ⁶	Lenassi E...Webster AR	25649381	2015
7	Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F. ⁶	Pozo MG...Antinolo G	25823529	2015
8	Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). ⁶	Ramsden SC...Manson FD	22234150	2012
9	Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. ⁵⁶	McGee TL...Berson EL	20507924	2010
10	Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. ⁶	Bernal S...Baiget M	12525556	2003
11	Nonsyndromic Retinitis Pigmentosa Overview ⁶	Fahim AT...Weleber RG	20301590	2000
12	Immunogenicity and protective efficacy of Brucella abortus recombinant protein cocktail (rOmp19+rP39) against B. abortus 544 and B. melitensis 16M infection in murine model. ⁶¹	Tadepalli G...Batra HV	26826463	2016

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Genes for Retinitis Pigmentosa 39

Genes related to Retinitis Pigmentosa 39 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	USH2A	Usherin	Protein Coding	1326.33	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	17296898 25823529 25649381 (more) 12525556 29912909 12427073 20301590 10775529 26666451 22234150
2	USH2A-AS1	USH2A Antisense RNA 1	RNA Gene	9.08	GeneCards inferred via : Variants (show sections)
3	USH2A-AS2	USH2A Antisense RNA 2	RNA Gene	8.9	GeneCards inferred via : Variants (show sections)
4	SYNJ2BP	Synaptojanin 2 Binding Protein	Protein Coding	6.48	DISEASES inferred ¹⁵
5	CMPK2	Cytidine/Uridine Monophosphate Kinase 2	Protein Coding	6.18	DISEASES inferred ¹⁵
6	RPGR	Retinitis Pigmentosa GTPase Regulator	Protein Coding	5.72	DISEASES inferred ¹⁵
7	RGS9BP	Regulator Of G Protein Signaling 9 Binding Protein	Protein Coding	5.21	DISEASES inferred ¹⁵
8	RAB28	RAB28, Member RAS Oncogene Family	Protein Coding	5.2	DISEASES inferred ¹⁵
9	PDE6G	Phosphodiesterase 6G	Protein Coding	5.09	DISEASES inferred ¹⁵
10	RAB8B	RAB8B, Member RAS Oncogene Family	Protein Coding	5.03	DISEASES inferred ¹⁵

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Variations for Retinitis Pigmentosa 39

ClinVar genetic disease variations for Retinitis Pigmentosa 39:

⁶ (show top 50) (show all 533) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	USH2A	NM_206933.3(USH2A):c.8167C>T (p.Arg2723Ter)	SNV	Pathogenic	419282	rs200712760	1:216061824-216061824	1:215888482-215888482
2	USH2A	NM_206933.3(USH2A):c.13576C>T (p.Arg4526Ter)	SNV	Pathogenic	438014	rs1003869920	1:215847677-215847677	1:215674335-215674335
3	USH2A	NM_206933.3(USH2A):c.12819T>A (p.Tyr4273Ter)	SNV	Pathogenic	438008	rs1362058696	1:215848434-215848434	1:215675092-215675092
4	USH2A	NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile)	SNV	Pathogenic	438002	rs780308389	1:216498735-216498735	1:216325393-216325393
5	USH2A	NM_206933.3(USH2A):c.100C>T (p.Arg34Ter)	SNV	Pathogenic	438000	rs772808534	1:216595579-216595579	1:216422237-216422237
6	USH2A	NM_206933.3(USH2A):c.9571-2A>G	SNV	Pathogenic	438033	rs751111524	1:215987248-215987248	1:215813906-215813906
7	USH2A	NM_206933.3(USH2A):c.4222C>T (p.Gln1408Ter)	SNV	Pathogenic	438021	rs746551311	1:216369924-216369924	1:216196582-216196582
8	USH2A	NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter)	SNV	Pathogenic	504513	rs199679165	1:216270538-216270538	1:216097196-216097196
9	USH2A	NM_206933.3(USH2A):c.7524del (p.Arg2509fs)	deletion	Pathogenic	517494	rs751176116	1:216073487-216073487	1:215900145-215900145
10	USH2A	NM_206933.3(USH2A):c.10388-1G>C	SNV	Pathogenic	522485	rs1553261478	1:215956278-215956278	1:215782936-215782936
11	USH2A	NM_007123.5(USH2A):c.667dup (p.Ile223fs)	duplication	Pathogenic	522527	rs1553253747	1:216538411-216538412	1:216365069-216365070
12	USH2A	NM_206933.3(USH2A):c.13621C>T (p.Gln4541Ter)	SNV	Pathogenic	555195	rs765476745	1:215847632-215847632	1:215674290-215674290
13	USH2A	NM_206933.3(USH2A):c.13700del (p.Leu4567fs)	deletion	Pathogenic	555701	rs1212608410	1:215847553-215847553	1:215674211-215674211
14	USH2A	NM_206933.3(USH2A):c.10388-1G>A	SNV	Pathogenic	557493	rs1553261478	1:215956278-215956278	1:215782936-215782936
15	USH2A	NM_206933.3(USH2A):c.14977_14978del (p.Phe4993fs)	deletion	Pathogenic	555201	rs747160949	1:215812571-215812572	1:215639229-215639230
16	USH2A	NM_206933.3(USH2A):c.14131C>T (p.Gln4711Ter)	SNV	Pathogenic	554236	rs747063294	1:215844316-215844316	1:215670974-215670974
17	USH2A	NM_206933.3(USH2A):c.13822C>T (p.Arg4608Ter)	SNV	Pathogenic	557745	rs367674026	1:215844625-215844625	1:215671283-215671283
18	USH2A	NM_206933.3(USH2A):c.9270C>A (p.Cys3090Ter)	SNV	Pathogenic	557177	rs779572631	1:216011434-216011434	1:215838092-215838092
19	USH2A	NM_206933.3(USH2A):c.13207_13208del (p.Gly4403fs)	deletion	Pathogenic	558124	rs746447649	1:215848045-215848046	1:215674703-215674704
20	USH2A	NM_206933.3(USH2A):c.8079G>A (p.Trp2693Ter)	SNV	Pathogenic	553648	rs1553273330	1:216061912-216061912	1:215888570-215888570
21	USH2A	NM_206933.3(USH2A):c.5399G>A (p.Trp1800Ter)	SNV	Pathogenic	556449	rs1553299079	1:216251604-216251604	1:216078262-216078262
22	USH2A	NM_206933.3(USH2A):c.8834G>A (p.Trp2945Ter)	SNV	Pathogenic	557801	rs760302201	1:216040360-216040360	1:215867018-215867018
23	USH2A	NM_007123.5(USH2A):c.545_546del (p.Lys182fs)	deletion	Pathogenic	556324	rs780779563	1:216591961-216591962	1:216418619-216418620
24	USH2A	NM_206933.3(USH2A):c.9469C>T (p.Gln3157Ter)	SNV	Pathogenic	555916	rs772100045	1:215990440-215990440	1:215817098-215817098
25	USH2A	NM_206933.3(USH2A):c.3920C>G (p.Ser1307Ter)	SNV	Pathogenic	553983	rs756623509	1:216371818-216371818	1:216198476-216198476
26	USH2A	NM_206933.3(USH2A):c.3883C>T (p.Arg1295Ter)	SNV	Pathogenic	556829	rs764797292	1:216371855-216371855	1:216198513-216198513
27	USH2A	NM_206933.3(USH2A):c.2610C>A (p.Cys870Ter)	SNV	Pathogenic	557167	rs767078782	1:216420126-216420126	1:216246784-216246784
28	USH2A	NM_206933.3(USH2A):c.2797C>T (p.Gln933Ter)	SNV	Pathogenic	553620	rs1394737087	1:216419939-216419939	1:216246597-216246597
29	USH2A	NM_206933.3(USH2A):c.2168-1G>C	SNV	Pathogenic	556842	rs748961218	1:216420569-216420569	1:216247227-216247227
30	USH2A	NM_206933.2(USH2A):c.852_853delGA (p.Glu284Aspfs)	short repeat	Pathogenic	553452	rs1188025733	1:216498937-216498938	1:216325595-216325596
31	USH2A	NM_206933.3(USH2A):c.2023C>T (p.Gln675Ter)	SNV	Pathogenic	553607	rs868562952	1:216424389-216424389	1:216251047-216251047
32	USH2A	NM_206933.3(USH2A):c.236_239dup (p.Gln81fs)	duplication	Pathogenic	552849	rs1553258097	1:216595439-216595440	1:216422097-216422098
33	USH2A	NM_206933.3(USH2A):c.187C>T (p.Arg63Ter)	SNV	Pathogenic	556744	rs781223647	1:216595492-216595492	1:216422150-216422150
34	USH2A	NM_206933.2(USH2A):c.(4758+1_4759-1)_(5298+1_5299-1)del	deletion	Pathogenic	565300		1:216251705-216270424	1:216078363-216097082
35	USH2A	NM_206933.3(USH2A):c.8089G>T (p.Glu2697Ter)	SNV	Pathogenic	620588	rs1558146243	1:216061902-216061902	1:215888560-215888560
36	USH2A	NM_206933.3(USH2A):c.4334_4335CT[2] (p.Cys1447fs)	short repeat	Pathogenic	2353	rs111033367	1:216363622-216363623	1:216190280-216190281
37	USH2A	NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	SNV	Pathogenic	2356	rs80338902	1:216420460-216420460	1:216247118-216247118
38	USH2A	NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	SNV	Pathogenic	2357	rs111033364	1:215901574-215901574	1:215728232-215728232
39	USH2A	NM_206933.4(USH2A):c.949C>A (p.Arg317=)	SNV	Pathogenic	2358	rs111033272	1:216498841-216498841	1:216325499-216325499
40	USH2A	NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)	SNV	Pathogenic	2359	rs121912600	1:216497582-216497582	1:216324240-216324240
41	USH2A	NM_206933.3(USH2A):c.240_241insGATC (p.Gln81fs)	insertion	Pathogenic	2360	rs587776538	1:216595438-216595439	1:216422096-216422097
42	USH2A	NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)	SNV	Pathogenic	2361	rs111033334	1:216420527-216420527	1:216247185-216247185
43	USH2A	NM_206933.4(USH2A):c.409dup (p.Ser137fs)	duplication	Pathogenic	829992		1:216595269-216595270	1:216421927-216421928
44	USH2A	NM_007123.5(USH2A):c.2898del (p.Thr967fs)	deletion	Pathogenic	2352	rs397518008	1:216405390-216405390	1:216232048-216232048
45	USH2A	NM_206933.3(USH2A):c.7595-2144A>G	SNV	Pathogenic	30722	rs786200928	1:216064540-216064540	1:215891198-215891198
46	USH2A	NM_206933.3(USH2A):c.10190_10191del (p.Lys3397fs)	deletion	Pathogenic	48343	rs397517964	1:215960208-215960209	1:215786866-215786867
47	USH2A	NM_206933.3(USH2A):c.1036A>C (p.Asn346His)	SNV	Pathogenic	48347	rs369522997	1:216498754-216498754	1:216325412-216325412
48	USH2A	NM_206933.3(USH2A):c.11411del (p.Pro3804fs)	deletion	Pathogenic	48375	rs397517973	1:215916656-215916656	1:215743314-215743314
49	USH2A	NM_206933.4(USH2A):c.12067-2A>G	SNV	Pathogenic	48390	rs397517978	1:215853720-215853720	1:215680378-215680378
50	USH2A	NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter)	SNV	Pathogenic	48408	rs397517983	1:215848385-215848385	1:215675043-215675043

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 39:

⁷³ (show all 12)

#	Symbol	AA change	Variation ID	SNP ID
1	USH2A	p.Cys419Phe	VAR_025767	rs121912600
2	USH2A	p.Cys759Phe	VAR_025775	rs80338902
3	USH2A	p.Arg4115Cys	VAR_025780	rs111033275
4	USH2A	p.Thr4425Met	VAR_025781	rs201238640
5	USH2A	p.Arg4674Gly	VAR_038369	rs80338904
6	USH2A	p.Phe1859Cys	VAR_068354
7	USH2A	p.Arg2460His	VAR_068355	rs368681648
8	USH2A	p.Cys3358Tyr	VAR_068356	rs148660051
9	USH2A	p.Ser3669Arg	VAR_068357
10	USH2A	p.Cys934Trp	VAR_072000	rs201527662
11	USH2A	p.Phe1442Ser	VAR_072002	rs766108245
12	USH2A	p.Leu5063Arg	VAR_072063

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Expression for Retinitis Pigmentosa 39

Search GEO for disease gene expression data for Retinitis Pigmentosa 39.

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Pathways for Retinitis Pigmentosa 39

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GO Terms for Retinitis Pigmentosa 39

Cellular components related to Retinitis Pigmentosa 39 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	photoreceptor outer segment	GO:0001750	8.96	RPGR RGS9BP
2	ciliary basal body	GO:0036064	8.8	USH2A RPGR RAB28

Biological processes related to Retinitis Pigmentosa 39 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	intracellular protein transport	GO:0006886	9.33	RPGR RAB8B RAB28
2	Rab protein signal transduction	GO:0032482	9.26	RAB8B RAB28
3	response to stimulus	GO:0050896	9.26	USH2A RPGR RGS9BP PDE6G
4	visual perception	GO:0007601	8.92	USH2A RPGR RGS9BP PDE6G

Molecular functions related to Retinitis Pigmentosa 39 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	GDP binding	GO:0019003	8.62	RAB8B RAB28

Sources

Sources for Retinitis Pigmentosa 39

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 GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

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 MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Retinitis Pigmentosa 39 (RP39)

Aliases & Classifications for Retinitis Pigmentosa 39

MalaCards integrated aliases for Retinitis Pigmentosa 39:

Characteristics:

HPO:

Classifications:

External Ids:

Summaries for Retinitis Pigmentosa 39

Related Diseases for Retinitis Pigmentosa 39

Diseases in the Retinitis Pigmentosa family:

Diseases related to Retinitis Pigmentosa 39 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 39:

Symptoms & Phenotypes for Retinitis Pigmentosa 39

Human phenotypes related to Retinitis Pigmentosa 39:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Retinitis Pigmentosa 39:

Drugs & Therapeutics for Retinitis Pigmentosa 39

Interventional clinical trials:

Genetic Tests for Retinitis Pigmentosa 39

Genetic tests related to Retinitis Pigmentosa 39:

Anatomical Context for Retinitis Pigmentosa 39

MalaCards organs/tissues related to Retinitis Pigmentosa 39:

Publications for Retinitis Pigmentosa 39

Articles related to Retinitis Pigmentosa 39:

Genes for Retinitis Pigmentosa 39

Genes related to Retinitis Pigmentosa 39 (1 elite genes):

Variations for Retinitis Pigmentosa 39

ClinVar genetic disease variations for Retinitis Pigmentosa 39:

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 39:

Expression for Retinitis Pigmentosa 39

Pathways for Retinitis Pigmentosa 39

GO Terms for Retinitis Pigmentosa 39

Cellular components related to Retinitis Pigmentosa 39 according to GeneCards Suite gene sharing:

Biological processes related to Retinitis Pigmentosa 39 according to GeneCards Suite gene sharing:

Molecular functions related to Retinitis Pigmentosa 39 according to GeneCards Suite gene sharing:

Sources for Retinitis Pigmentosa 39