RP39
MCID: RTN141
MIFTS: 44

Retinitis Pigmentosa 39 (RP39)

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

Aliases & Classifications for Retinitis Pigmentosa 39

MalaCards integrated aliases for Retinitis Pigmentosa 39:

Name: Retinitis Pigmentosa 39 57 12 72 29 13 6 15 70
Rp39 57 12 72
Retinitis Pigmentosa, Type 39 39

Characteristics:

HPO:

31
retinitis pigmentosa 39:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110360
OMIM® 57 613809
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C3151138
UMLS 70 C3151138

Summaries for Retinitis Pigmentosa 39

UniProtKB/Swiss-Prot : 72 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 retinitis pigmentosa 28 and retinitis pigmentosa-deafness syndrome. An important gene associated with Retinitis Pigmentosa 39 is USH2A (Usherin), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Visual Cycle in Retinal Rods. 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

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
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 28 10.2 RPGR RAB28
2 retinitis pigmentosa-deafness syndrome 10.2 USH2A-AS2 USH2A-AS1 USH2A
3 choroid disease 10.2 USH2A RPGR
4 usher syndrome, type iia 10.2 USH2A-AS2 USH2A-AS1 USH2A
5 usher syndrome, type i 10.2 USH2A-AS1 USH2A RPGR
6 bardet-biedl syndrome 7 10.2 RGS9BP CABP4
7 scotoma 10.1 USH2A RPGR
8 bardet-biedl syndrome 4 10.1 RGS9BP CABP4
9 fundus albipunctatus 10.1 RPGR RGS9BP CABP4
10 cone-rod dystrophy, x-linked, 3 10.1 RPGR CACNA2D4 CABP4
11 abnormal threshold of rods 10.1 RGS9BP CACNA2D4 CABP4
12 retinitis 10.0 USH2A RPGR PDE6A
13 rare genetic deafness 10.0 USH2A-AS2 USH2A-AS1 USH2A
14 macular dystrophy, dominant cystoid 10.0 USH2A RPGR PDE6A
15 retinitis pigmentosa 7 9.9 RPGR RGS9BP PDE6A
16 red-green color blindness 9.9 RPGR GNAT2
17 vitelliform macular dystrophy 9.9 USH2A RPGR PDE6A
18 nephronophthisis 4 9.9 RGS9BP PDE6A CABP4
19 digenic disease 9.9 USH2A PDE6G PDE6A
20 retinitis pigmentosa 25 9.9 RPGR PDE6G PDE6A
21 retinitis pigmentosa 29 9.9 PDE6A CNGA1
22 night blindness 9.9 USH2A RPGR GRK7 CABP4
23 hereditary retinal dystrophy 9.9 USH2A PDE6A CNGA1
24 usher syndrome, type iic 9.9 USH2A PDE6A
25 cone-rod dystrophy 16 9.8 RAB28 CACNA2D4
26 achromatopsia 2 9.8 GNAT2 CNGA1
27 usher syndrome, type iiia 9.8 USH2A PDE6A CNGA1
28 retinitis pigmentosa 1 9.8 PDE6G PDE6A CNGA1
29 pathologic nystagmus 9.8 RPGR GNAT2 CABP4
30 usher syndrome type 2 9.7 USH2A-AS2 USH2A-AS1 USH2A RPGR PDE6A
31 retinoschisis 1, x-linked, juvenile 9.7 USH2A RPGR GNAT2 CABP4
32 prolonged electroretinal response suppression 9.7 RGS9BP GRK7 GNAT2
33 oguchi disease 1 9.7 RGS9BP RAB28 PDE6G GRK7 CABP4
34 retinal degeneration 9.6 USH2A RPGR PDE6G GNAT2
35 retinal disease 9.6 USH2A RPGR PDE6A CNGA1 CABP4
36 stargardt disease 9.5 USH2A RPGR PDE6A GNAT2
37 eye disease 9.5 USH2A RPGR GNAT2 CACNA2D4 CABP4
38 color blindness 9.4 RPGR PDE6A GNAT2 CNGA1
39 enhanced s-cone syndrome 9.3 RPGR RGS9BP GRK7 GNAT2 CNGA1
40 cone-rod dystrophy 6 9.1 RPGR PDE6G PDE6A GNAT2 CACNA2D4 CABP4
41 oguchi disease 2 9.0 RGS9BP RAB8B RAB28 PDE6G GRK7 CNGA1
42 eye degenerative disease 9.0 USH2A RPGR PDE6A GRK7 GNAT2 CNGA1
43 cone dystrophy 8.8 USH2A RPGR RGS9BP PDE6A GNAT2 CNGA1
44 usher syndrome 8.8 USH2A-AS2 USH2A-AS1 USH2A RPGR PDE6A GRK7
45 achromatopsia 8.6 USH2A RPGR RGS9BP RAB28 PDE6A GNAT2
46 congenital stationary night blindness 8.3 USH2A RPGR RGS9BP PDE6G PDE6A GRK7
47 leber plus disease 8.3 USH2A-AS2 USH2A RPGR RGS9BP RAB28 PDE6G
48 cone-rod dystrophy 2 8.2 USH2A-AS2 USH2A-AS1 USH2A RPGR RGS9BP RAB28
49 fundus dystrophy 7.9 USH2A-AS2 USH2A-AS1 USH2A RPGR RGS9BP RAB28
50 retinitis pigmentosa 7.9 USH2A-AS2 USH2A-AS1 USH2A RPGR RGS9BP RAB28

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



Diseases related to Retinitis Pigmentosa 39

Symptoms & Phenotypes for Retinitis Pigmentosa 39

Human phenotypes related to Retinitis Pigmentosa 39:

31
# Description HPO Frequency 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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Retinitis Pigmentosa 39:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.36 CABP4 CACNA2D4 GNAT2 PDE6A PDE6G PLAC8

Drugs & Therapeutics for Retinitis Pigmentosa 39

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 39

Genetic Tests for Retinitis Pigmentosa 39

Genetic tests related to Retinitis Pigmentosa 39:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 39 29 USH2A

Anatomical Context for Retinitis Pigmentosa 39

MalaCards organs/tissues related to Retinitis Pigmentosa 39:

40
Retina, Eye, Bone, Breast

Publications for Retinitis Pigmentosa 39

Articles related to Retinitis Pigmentosa 39:

(show top 50) (show all 113)
# Title Authors PMID Year
1
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. 57 6
20507924 2010
2
Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. 6 57
17296898 2007
3
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. 57 6
12427073 2002
4
Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. 6 57
10775529 2000
5
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families. 6
29912909 2018
6
The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa. 6
28981474 2017
7
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. 6
28944237 2017
8
Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients. 6
28894305 2017
9
Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies. 6
28838317 2017
10
Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families. 6
28512305 2017
11
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands. 6
28000701 2017
12
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases. 6
28157192 2017
13
Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families. 6
28761320 2017
14
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 6
28041643 2017
15
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 6
27460420 2016
16
Molecular findings from 537 individuals with inherited retinal disease. 6
27208204 2016
17
Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations. 6
27624628 2016
18
Retinal Dystrophy in 6 Young Patients Who Presented with Intermediate Uveitis. 6
27157150 2016
19
Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands. 6
27596865 2016
20
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. 6
27318125 2016
21
Usher syndrome in Denmark: mutation spectrum and some clinical observations. 6
27957503 2016
22
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. 6
27344577 2016
23
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
24
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. 6
27353947 2016
25
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa. 6
26927203 2016
26
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 6
26969326 2016
27
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. 6
27032803 2016
28
Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity. 6
26856745 2016
29
Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. 6
27583663 2016
30
Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing. 6
28005958 2016
31
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. 6
26667666 2015
32
Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family. 6
26310143 2015
33
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. 6
25649381 2015
34
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. 6
26338283 2015
35
Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies. 6
26306921 2015
36
High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting. 6
25910913 2015
37
Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F. 6
25823529 2015
38
Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations. 6
24853665 2015
39
DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy. 6
25991456 2015
40
Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. 6
25356976 2015
41
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. 6
25412400 2015
42
Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology. 6
25252889 2015
43
Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis. 6
25575603 2015
44
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland. 6
25472526 2015
45
Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations. 6
26261414 2015
46
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
47
Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing. 6
26496393 2015
48
The usefulness of whole-exome sequencing in routine clinical practice. 6
24901346 2014
49
Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography. 6
25425308 2014
50
Targeted next generation sequencing for molecular diagnosis of Usher syndrome. 6
25404053 2014

Variations for Retinitis Pigmentosa 39

ClinVar genetic disease variations for Retinitis Pigmentosa 39:

6 (show top 50) (show all 566)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 USH2A NM_206933.3(USH2A):c.240_241insGATC (p.Gln81fs) Insertion Pathogenic 2360 rs587776538 GRCh37: 1:216595438-216595439
GRCh38: 1:216422096-216422097
2 USH2A NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) SNV Pathogenic 2361 rs111033334 GRCh37: 1:216420527-216420527
GRCh38: 1:216247185-216247185
3 USH2A NM_206933.3(USH2A):c.14020A>G (p.Arg4674Gly) SNV Pathogenic 2362 rs80338904 GRCh37: 1:215844427-215844427
GRCh38: 1:215671085-215671085
4 USH2A NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter) SNV Pathogenic 48412 rs111033385 GRCh37: 1:215848123-215848123
GRCh38: 1:215674781-215674781
5 USH2A NM_206933.3(USH2A):c.10388-1G>C SNV Pathogenic 522485 rs1553261478 GRCh37: 1:215956278-215956278
GRCh38: 1:215782936-215782936
6 USH2A NM_007123.5(USH2A):c.667dup (p.Ile223fs) Duplication Pathogenic 522527 rs1553253747 GRCh37: 1:216538411-216538412
GRCh38: 1:216365069-216365070
7 USH2A NM_206933.3(USH2A):c.1214del (p.Asn405fs) Deletion Pathogenic 189250 rs750228923 GRCh37: 1:216497624-216497624
GRCh38: 1:216324282-216324282
8 USH2A NM_206933.4(USH2A):c.9570+1G>A SNV Pathogenic 228418 rs760225886 GRCh37: 1:215990338-215990338
GRCh38: 1:215816996-215816996
9 USH2A NM_206933.4(USH2A):c.8559-2A>G SNV Pathogenic 48604 rs397518039 GRCh37: 1:216051224-216051224
GRCh38: 1:215877882-215877882
10 USH2A NM_206933.3(USH2A):c.236_239dup (p.Gln81fs) Duplication Pathogenic 552849 rs1553258097 GRCh37: 1:216595439-216595440
GRCh38: 1:216422097-216422098
11 USH2A NM_206933.2(USH2A):c.852_853delGA (p.Glu284Aspfs) Microsatellite Pathogenic 553452 rs1188025733 GRCh37: 1:216498937-216498938
GRCh38: 1:216325595-216325596
12 USH2A NM_206933.3(USH2A):c.7595-3C>G SNV Pathogenic 197447 rs201657446 GRCh37: 1:216062399-216062399
GRCh38: 1:215889057-215889057
13 USH2A-AS1 , USH2A NM_206933.3(USH2A):c.3920C>G (p.Ser1307Ter) SNV Pathogenic 553983 rs756623509 GRCh37: 1:216371818-216371818
GRCh38: 1:216198476-216198476
14 USH2A NM_206933.3(USH2A):c.8079G>A (p.Trp2693Ter) SNV Pathogenic 553648 rs1553273330 GRCh37: 1:216061912-216061912
GRCh38: 1:215888570-215888570
15 USH2A NM_206933.3(USH2A):c.2797C>T (p.Gln933Ter) SNV Pathogenic 553620 rs1394737087 GRCh37: 1:216419939-216419939
GRCh38: 1:216246597-216246597
16 USH2A NM_206933.3(USH2A):c.2023C>T (p.Gln675Ter) SNV Pathogenic 553607 rs868562952 GRCh37: 1:216424389-216424389
GRCh38: 1:216251047-216251047
17 USH2A NM_206933.3(USH2A):c.14131C>T (p.Gln4711Ter) SNV Pathogenic 554236 rs747063294 GRCh37: 1:215844316-215844316
GRCh38: 1:215670974-215670974
18 USH2A-AS1 , USH2A NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter) SNV Pathogenic 48499 rs397518011 GRCh37: 1:216380622-216380622
GRCh38: 1:216207280-216207280
19 USH2A NM_206933.4(USH2A):c.820C>T (p.Arg274Ter) SNV Pathogenic 48595 rs397518036 GRCh37: 1:216500961-216500961
GRCh38: 1:216327619-216327619
20 USH2A NM_206933.3(USH2A):c.12819T>A (p.Tyr4273Ter) SNV Pathogenic 438008 rs1362058696 GRCh37: 1:215848434-215848434
GRCh38: 1:215675092-215675092
21 USH2A NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter) SNV Pathogenic 48408 rs397517983 GRCh37: 1:215848385-215848385
GRCh38: 1:215675043-215675043
22 USH2A NM_206933.3(USH2A):c.11047+1G>A SNV Pathogenic 501315 rs201730567 GRCh37: 1:215940022-215940022
GRCh38: 1:215766680-215766680
23 USH2A NM_206933.3(USH2A):c.9571-2A>G SNV Pathogenic 438033 rs751111524 GRCh37: 1:215987248-215987248
GRCh38: 1:215813906-215813906
24 USH2A NM_206933.3(USH2A):c.11411del (p.Pro3804fs) Deletion Pathogenic 48375 rs397517973 GRCh37: 1:215916656-215916656
GRCh38: 1:215743314-215743314
25 USH2A NM_206933.3(USH2A):c.13621C>T (p.Gln4541Ter) SNV Pathogenic 555195 rs765476745 GRCh37: 1:215847632-215847632
GRCh38: 1:215674290-215674290
26 USH2A NM_206933.3(USH2A):c.14977_14978del (p.Phe4993fs) Deletion Pathogenic 555201 rs747160949 GRCh37: 1:215812571-215812572
GRCh38: 1:215639229-215639230
27 USH2A NM_206933.3(USH2A):c.13700del (p.Leu4567fs) Deletion Pathogenic 555701 rs1212608410 GRCh37: 1:215847553-215847553
GRCh38: 1:215674211-215674211
28 USH2A-AS1 , USH2A NM_007123.5(USH2A):c.2898del (p.Thr967fs) Deletion Pathogenic 2352 rs397518008 GRCh37: 1:216405390-216405390
GRCh38: 1:216232048-216232048
29 USH2A NM_206933.3(USH2A):c.9469C>T (p.Gln3157Ter) SNV Pathogenic 555916 rs772100045 GRCh37: 1:215990440-215990440
GRCh38: 1:215817098-215817098
30 USH2A NM_206933.3(USH2A):c.187C>T (p.Arg63Ter) SNV Pathogenic 556744 rs781223647 GRCh37: 1:216595492-216595492
GRCh38: 1:216422150-216422150
31 USH2A-AS1 , USH2A NM_206933.3(USH2A):c.3883C>T (p.Arg1295Ter) SNV Pathogenic 556829 rs764797292 GRCh37: 1:216371855-216371855
GRCh38: 1:216198513-216198513
32 USH2A NM_206933.3(USH2A):c.8557A>T (p.Arg2853Ter) SNV Pathogenic 555751 rs749452910 GRCh37: 1:216052107-216052107
GRCh38: 1:215878765-215878765
33 USH2A NM_206933.3(USH2A):c.100C>T (p.Arg34Ter) SNV Pathogenic 438000 rs772808534 GRCh37: 1:216595579-216595579
GRCh38: 1:216422237-216422237
34 USH2A NM_206933.3(USH2A):c.2610C>A (p.Cys870Ter) SNV Pathogenic 557167 rs767078782 GRCh37: 1:216420126-216420126
GRCh38: 1:216246784-216246784
35 USH2A NM_206933.3(USH2A):c.10388-1G>A SNV Pathogenic 557493 rs1553261478 GRCh37: 1:215956278-215956278
GRCh38: 1:215782936-215782936
36 USH2A NM_206933.3(USH2A):c.13822C>T (p.Arg4608Ter) SNV Pathogenic 557745 rs367674026 GRCh37: 1:215844625-215844625
GRCh38: 1:215671283-215671283
37 USH2A NM_206933.3(USH2A):c.8834G>A (p.Trp2945Ter) SNV Pathogenic 557801 rs760302201 GRCh37: 1:216040360-216040360
GRCh38: 1:215867018-215867018
38 USH2A NM_206933.3(USH2A):c.13207_13208del (p.Gly4403fs) Deletion Pathogenic 558124 rs746447649 GRCh37: 1:215848045-215848046
GRCh38: 1:215674703-215674704
39 USH2A NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter) SNV Pathogenic 48628 rs73090721 GRCh37: 1:215990450-215990450
GRCh38: 1:215817108-215817108
40 USH2A-AS2 , USH2A NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu) SNV Pathogenic 265979 rs886039867 GRCh37: 1:216251487-216251487
GRCh38: 1:216078145-216078145
41 USH2A and overlap with 1 gene(s) NM_206933.2(USH2A):c.(4758+1_4759-1)_(5298+1_5299-1)del Deletion Pathogenic 565300 GRCh37: 1:216251705-216270424
GRCh38: 1:216078363-216097082
42 USH2A NM_206933.3(USH2A):c.11549-1G>A SNV Pathogenic 236536 rs878853407 GRCh37: 1:215914880-215914880
GRCh38: 1:215741538-215741538
43 USH2A NM_206933.3(USH2A):c.8089G>T (p.Glu2697Ter) SNV Pathogenic 620588 rs1558146243 GRCh37: 1:216061902-216061902
GRCh38: 1:215888560-215888560
44 USH2A NM_206933.3(USH2A):c.6926G>T (p.Cys2309Phe) SNV Pathogenic 560524 rs748983904 GRCh37: 1:216143998-216143998
GRCh38: 1:215970656-215970656
45 USH2A NM_206933.4(USH2A):c.8559-2A>G SNV Pathogenic 48604 rs397518039 GRCh37: 1:216051224-216051224
GRCh38: 1:215877882-215877882
46 USH2A NM_206933.4(USH2A):c.409dup (p.Ser137fs) Duplication Pathogenic 829992 rs1571805164 GRCh37: 1:216595269-216595270
GRCh38: 1:216421927-216421928
47 USH2A NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) SNV Pathogenic 48634 rs111033263 GRCh37: 1:215972408-215972408
GRCh38: 1:215799066-215799066
48 USH2A NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter) SNV Pathogenic 48449 rs397517994 GRCh37: 1:215813957-215813957
GRCh38: 1:215640615-215640615
49 USH2A NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter) SNV Pathogenic 48357 rs111033418 GRCh37: 1:215953365-215953365
GRCh38: 1:215780023-215780023
50 USH2A-AS1 , USH2A NM_206933.3(USH2A):c.4222C>T (p.Gln1408Ter) SNV Pathogenic 438021 rs746551311 GRCh37: 1:216369924-216369924
GRCh38: 1:216196582-216196582

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

72 (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

Expression for Retinitis Pigmentosa 39

Search GEO for disease gene expression data 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:

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body GO:0036064 9.43 USH2A RPGR RAB28
2 photoreceptor disc membrane GO:0097381 9.33 PDE6G PDE6A GRK7
3 photoreceptor outer segment GO:0001750 9.26 RPGR RGS9BP GNAT2 CNGA1
4 photoreceptor outer segment membrane GO:0042622 8.92 PDE6G PDE6A GNAT2 CNGA1

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

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.56 USH2A RPGR RGS9BP PDE6G PDE6A GRK7
2 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.54 PDE6G PDE6A GNAT2
3 detection of light stimulus involved in visual perception GO:0050908 9.5 RGS9BP GNAT2 CACNA2D4
4 regulation of rhodopsin mediated signaling pathway GO:0022400 9.46 PDE6G PDE6A GRK7 CNGA1
5 phototransduction GO:0007602 9.43 GNAT2 CABP4
6 rhodopsin mediated signaling pathway GO:0016056 9.43 PDE6G PDE6A CNGA1
7 retinal cone cell development GO:0046549 9.4 GNAT2 CABP4
8 visual perception GO:0007601 9.28 USH2A RPGR RGS9BP PDE6G PDE6A GRK7

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

# Name GO ID Score Top Affiliating Genes
1 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.16 PDE6G PDE6A
2 cGMP binding GO:0030553 8.96 PDE6G CNGA1
3 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 8.62 PDE6G PDE6A

Sources for Retinitis Pigmentosa 39

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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