RP25
MCID: RTN054
MIFTS: 43

Retinitis Pigmentosa 25 (RP25)

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

Aliases & Classifications for Retinitis Pigmentosa 25

MalaCards integrated aliases for Retinitis Pigmentosa 25:

Name: Retinitis Pigmentosa 25 57 12 20 72 29 13 6 15 70
Rp25 57 12 72
Retinitis Pigmentosa, Type 25 39
Rp 25 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable age at onset (range 12-46 years)
one patient in an rp family was identified with a cone-rod phenotype on erg


HPO:

31
retinitis pigmentosa 25:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110384
OMIM® 57 602772
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C1864446
UMLS 70 C1864446

Summaries for Retinitis Pigmentosa 25

UniProtKB/Swiss-Prot : 72 Retinitis pigmentosa 25: 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 25, also known as rp25, is related to retinitis and retinitis pigmentosa. An important gene associated with Retinitis Pigmentosa 25 is EYS (Eyes Shut Homolog). Affiliated tissues include retina, eye and bone, and related phenotypes are posterior subcapsular cataract and chorioretinal atrophy

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the EYS gene on chromosome 6q12.

More information from OMIM: 602772 PS268000

Related Diseases for Retinitis Pigmentosa 25

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

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 retinitis 29.7 RPGR PRPH2 PDE6A EYS CRB1
2 retinitis pigmentosa 26.9 TENT5A SMAP1 RPGR RIMS1 PRPH2 PHF3
3 retinitis pigmentosa 73 10.3 IMPG1 EYS C6orf52
4 neuroretinitis 10.3
5 retinitis pigmentosa 32 10.3 LCA5 EYS
6 retinitis pigmentosa 20 10.2 RPGR EYS
7 retinitis pigmentosa 19 10.2 RPGR ELOVL4
8 retinitis pigmentosa 29 10.2 PDE6A LCA5 EYS
9 retinitis pigmentosa 35 10.2 RPGR CDHR1
10 leber congenital amaurosis 7 10.1 LCA5 CRB1
11 leber congenital amaurosis 16 10.1 LCA5 CRB1
12 cone-rod dystrophy 7 10.1 RIMS1 LCA5 IMPG1 ELOVL4
13 leber congenital amaurosis 8 10.1 LCA5 CRB1
14 chorioretinal scar 10.1 PDE6A CRB1
15 leber congenital amaurosis 6 10.1 LCA5 CRB1
16 partial central choroid dystrophy 10.1 RIMS1 PRPH2
17 hereditary choroidal atrophy 10.1 RIMS1 PRPH2
18 optic disk drusen 10.1 RPGR CRB1
19 leber congenital amaurosis 9 10.1 LCA5 CRB1
20 vitreoretinochoroidopathy 10.0 PRPH2 IMPG1 ELOVL4
21 stargardt macular degeneration 10.0 RIMS1 PRPH2 ELOVL4
22 macular dystrophy, vitelliform, 2 10.0 PRPH2 IMPG1
23 retinitis pigmentosa 28 10.0 RPGR LCA5
24 isolated macular dystrophy 10.0 PRPH2 IMPG1
25 scotoma 10.0 RPGR EYS CRB1
26 leber congenital amaurosis 4 10.0 PDE6A LCA5 CRB1
27 macular dystrophy, vitelliform, 3 10.0 PRPH2 IMPG1
28 leber congenital amaurosis 10 10.0 RPGR LCA5 CRB1
29 leber congenital amaurosis 3 10.0 LCA5 CRB1
30 retinitis pigmentosa 39 10.0 RPGR PDE6G PDE6A
31 leber congenital amaurosis 2 10.0 RPGR LCA5 CRB1
32 peripheral retinal degeneration 9.9 PRPH2 CRB1
33 usher syndrome, type iiia 9.9 PDE6A LCA5 CRB1
34 choroid disease 9.9 RPGR PRPH2 EYS
35 macular dystrophy, dominant cystoid 9.9 RPGR PDE6A CRB1
36 pathologic nystagmus 9.9 RPGR LCA5 CRB1
37 bestrophinopathy, autosomal recessive 9.9 PRPH2 IMPG1 CRB1
38 bietti crystalline corneoretinal dystrophy 9.9 RPGR EYS
39 stargardt disease 1 9.9 PRPH2 EYS CRB1
40 gyrate atrophy of choroid and retina 9.9 RPGR RIMS1 PRPH2
41 choroidal dystrophy, central areolar, 1 9.9 RIMS1 PRPH2 EYS CDHR1
42 degeneration of macula and posterior pole 9.9 PRPH2 ELOVL4 CRB1
43 leber congenital amaurosis 1 9.9 PRPH2 LCA5 CRB1
44 digenic disease 9.8 PRPH2 PDE6G PDE6A
45 retinitis pigmentosa 1 9.8 PRPH2 PDE6G PDE6A
46 retinitis pigmentosa 7 9.8 RPGR PRPH2 PDE6A
47 night blindness 9.8 RPGR PRPH2 CRB1
48 exudative vitreoretinopathy 5 9.8 PRPH2 PDE6G
49 nanophthalmos 9.7 PRPH2 LCA5 CRB1 CDHR1
50 late-onset retinal degeneration 9.7 RPGR PRPH2 ELOVL4 CRB1

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 25:



Diseases related to Retinitis Pigmentosa 25

Symptoms & Phenotypes for Retinitis Pigmentosa 25

Human phenotypes related to Retinitis Pigmentosa 25:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 posterior subcapsular cataract 31 very rare (1%) HP:0007787
2 chorioretinal atrophy 31 very rare (1%) HP:0000533
3 photophobia 31 HP:0000613
4 nyctalopia 31 HP:0000662
5 rod-cone dystrophy 31 HP:0000510
6 optic disc pallor 31 HP:0000543
7 constriction of peripheral visual field 31 HP:0001133
8 attenuation of retinal blood vessels 31 HP:0007843
9 bone spicule pigmentation of the retina 31 HP:0007737
10 undetectable electroretinogram 31 HP:0000550

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
photophobia
optic disc pallor
night blindness
attenuated retinal vessels
retinal bone-spicule pigmentation
more

Clinical features from OMIM®:

602772 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 25 according to GeneCards Suite gene sharing:

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.55 PHF3
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.55 PHF3
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.55 RPGR
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.55 EYS
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-12 9.55 PDE6G
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-125 9.55 PDE6G
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.55 RPGR
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-149 9.55 PDE6G
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-157 9.55 PHF3
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.55 PDE6G
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-199 9.55 PHF3
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.55 PDE6G
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-6 9.55 PDE6G
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 9.55 RPGR
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.55 PDE6G
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-94 9.55 EYS
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.55 RPGR

MGI Mouse Phenotypes related to Retinitis Pigmentosa 25:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.02 CRB1 ELOVL4 LCA5 PRPH2 RPGR

Drugs & Therapeutics for Retinitis Pigmentosa 25

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 25

Genetic Tests for Retinitis Pigmentosa 25

Genetic tests related to Retinitis Pigmentosa 25:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 25 29 EYS

Anatomical Context for Retinitis Pigmentosa 25

MalaCards organs/tissues related to Retinitis Pigmentosa 25:

40
Retina, Eye, Bone

Publications for Retinitis Pigmentosa 25

Articles related to Retinitis Pigmentosa 25:

(show all 42)
# Title Authors PMID Year
1
EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. 61 57 6
18836446 2008
2
Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. 6 57 61
18976725 2008
3
Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families. 57 61
18510647 2008
4
Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval. 57 61
18510646 2008
5
Refinement of the locus for autosomal recessive Retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin. 57 61
10417302 1999
6
EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression. 6
28704921 2017
7
Molecular findings from 537 individuals with inherited retinal disease. 6
27208204 2016
8
Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population. 6
26787102 2016
9
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. 6
26667666 2015
10
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
11
Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations. 6
25491159 2015
12
Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations. 6
26161267 2015
13
Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations. 6
26261414 2015
14
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. 6
25097241 2014
15
Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping. 6
24474277 2014
16
High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population. 6
21217109 2011
17
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. 6
21069908 2010
18
Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype. 6
20537394 2010
19
Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population. 6
20375346 2010
20
EYS is a major gene for rod-cone dystrophies in France. 6
20333770 2010
21
A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters. 57
9585594 1998
22
Eyes shut homolog (EYS) interacts with matriglycan of O-mannosyl glycans whose deficiency results in EYS mislocalization and degeneration of photoreceptors. 61
32385361 2020
23
Yeast Associated with Rice Phylloplane and Their Contribution to Control of Rice Sheath Blight Disease. 61
32138375 2020
24
Drosophila melanogaster: A Valuable Genetic Model Organism to Elucidate the Biology of Retinitis Pigmentosa. 61
30324448 2019
25
Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe. 61
30513137 2018
26
Retinitis Pigmentosa (Non-syndromic). 61
30578498 2018
27
Eyes shut homolog is required for maintaining the ciliary pocket and survival of photoreceptors in zebrafish. 61
27737822 2016
28
Complete Genome Sequences of an H5N1 Highly Pathogenic Avian Influenza Virus Isolated from Pigeon in China in 2012. 61
26564048 2015
29
Large-scale Molecular Analysis of a 34 Mb Interval on Chromosome 6q: Major Refinement of the RP25 Interval. 61
28321837 2015
30
Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs. 61
17803723 2008
31
A novel genetic study of Chinese families with autosomal recessive retinitis pigmentosa. 61
17156103 2007
32
Exclusion of four candidate genes, KHDRBS2, PTP4A1, KIAA1411 and OGFRL1, as causative of autosomal recessive retinitis pigmentosa. 61
16192744 2006
33
Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus. 61
16354621 2005
34
Mutation screening of three candidate genes, ELOVL5, SMAP1 and GLULD1 in autosomal recessive retinitis pigmentosa. 61
16273301 2005
35
Molecular analysis of RIM1 in autosomal recessive Retinitis pigmentosa. 61
15746564 2005
36
Molecular cloning and characterization of human RAB23, a member of the group of Rab GTPases. 61
14612978 2003
37
Cloning, characterization, and chromosome mapping of the human GlcAT-S gene. 61
12522689 2002
38
Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locus. 61
11474659 2001
39
Identification of two highly informative STRs (GT15-25) and (GT9-21 )within the critical region of RP25. 61
11139260 2001
40
Serodiagnosis of recently acquired Toxoplasma gondii infection using an enzyme-linked immunosorbent assay with a combination of recombinant antigens. 61
10973455 2000
41
Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci. 61
10634627 2000
42
Comparison of ovine lentivirus detection by conventional and recombinant serological methods. 61
8571548 1995

Variations for Retinitis Pigmentosa 25

ClinVar genetic disease variations for Retinitis Pigmentosa 25:

6 (show top 50) (show all 184)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EYS NM_001142800.2(EYS):c.2710_2726del (p.Asp904fs) Deletion Pathogenic 534 rs878853253 GRCh37: 6:65612309-65612325
GRCh38: 6:64902416-64902432
2 EYS NM_001142800.1(EYS):c.2260-51191_2992+45990del Deletion Pathogenic 535 GRCh37: 6:65550600-65706998
GRCh38: 6:64840707-64997105
3 EYS and overlap with 1 gene(s) NM_001142800.1(EYS):c.1767-24596_2023+238135del Deletion Pathogenic 536 GRCh37: 6:65767621-66030608
GRCh38: 6:65057728-65320715
4 EYS NM_001142800.2(EYS):c.5857G>T (p.Glu1953Ter) SNV Pathogenic 537 rs137853189 GRCh37: 6:65146137-65146137
GRCh38: 6:64436244-64436244
5 EYS EYS, 1-BP DEL, 6714T Deletion Pathogenic 539 GRCh37:
GRCh38:
6 EYS NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter) SNV Pathogenic 522342 rs201823777 GRCh37: 6:66044966-66044966
GRCh38: 6:65335073-65335073
7 EYS NM_001142800.2(EYS):c.881C>G (p.Ser294Ter) SNV Pathogenic 208579 rs752683070 GRCh37: 6:66115242-66115242
GRCh38: 6:65405349-65405349
8 EYS NM_001142800.2(EYS):c.2259+1G>A SNV Pathogenic 558511 rs752736741 GRCh37: 6:65707474-65707474
GRCh38: 6:64997581-64997581
9 EYS NM_001142800.1(EYS):c.(2023+1_2024-1)_(3443+1_3444-1)del Deletion Pathogenic 565294 GRCh37:
GRCh38: 6:64626246-65295862
10 EYS NM_001142800.1(EYS):c.(2137+1_2138-1)_(2259+1_2260-1)dup Duplication Pathogenic 565295 GRCh37: 6:65655808-65767506
GRCh38: 6:64945915-65057613
11 EYS NM_001142800.1(EYS):c.(3243+1_3244-1)_(3443+1_3444-1)dup Duplication Pathogenic 565296 GRCh37: 6:65336139-65531537
GRCh38: 6:64626246-64821644
12 EYS NM_001142800.1(EYS):c.(6424+1_6425-1)_(6571+1_6572-1)del Deletion Pathogenic 565297 GRCh37:
GRCh38: 6:64066492-64230591
13 EYS NM_001142800.1(EYS):c.(748+1_749-1)_(1299+1_1300-1)del Deletion Pathogenic 560451 GRCh37:
GRCh38: 6:65353618-65494662
14 EYS NM_001142800.2(EYS):c.103C>T (p.Gln35Ter) SNV Pathogenic 560453 rs749410700 GRCh37: 6:66205201-66205201
GRCh38: 6:65495308-65495308
15 EYS NM_001142800.2(EYS):c.1161del (p.Lys387fs) Deletion Pathogenic 560454 rs1562154478 GRCh37: 6:66112394-66112394
GRCh38: 6:65402501-65402501
16 EYS NM_001142800.2(EYS):c.1499dup (p.Tyr500Ter) Duplication Pathogenic 560457 rs1562109990 GRCh37: 6:66054030-66054031
GRCh38: 6:65344137-65344138
17 EYS NM_001142800.2(EYS):c.5167_5168del (p.Leu1723fs) Deletion Pathogenic 560458 rs1562079314 GRCh37: 6:65300592-65300593
GRCh38: 6:64590699-64590700
18 EYS NM_001142800.2(EYS):c.7919G>A (p.Trp2640Ter) SNV Pathogenic 143112 rs527236066 GRCh37: 6:64472506-64472506
GRCh38: 6:63762613-63762613
19 PHF3 , EYS NM_001142800.2(EYS):c.8830del (p.Val2944fs) Deletion Pathogenic 599165 rs776526721 GRCh37: 6:64431097-64431097
GRCh38: 6:63721201-63721201
20 EYS NM_001142800.2(EYS):c.6269G>A (p.Trp2090Ter) SNV Pathogenic 619959 rs1562263385 GRCh37: 6:64940640-64940640
GRCh38: 6:64230747-64230747
21 EYS NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) SNV Pathogenic 197186 rs794727631 GRCh37: 6:66204814-66204814
GRCh38: 6:65494921-65494921
22 EYS NM_001142800.2(EYS):c.5243T>A (p.Leu1748Ter) SNV Pathogenic 635417 rs1582928662 GRCh37: 6:65300517-65300517
GRCh38: 6:64590624-64590624
23 PHF3 , EYS NM_001142800.2(EYS):c.8590G>T (p.Gly2864Ter) SNV Pathogenic 802231 rs1582140331 GRCh37: 6:64431337-64431337
GRCh38: 6:63721441-63721441
24 EYS NM_001142800.2(EYS):c.7572G>A (p.Trp2524Ter) SNV Pathogenic 802232 rs902462590 GRCh37: 6:64498957-64498957
GRCh38: 6:63789064-63789064
25 EYS NM_001142800.2(EYS):c.5928-2A>G SNV Pathogenic 438200 rs181169439 GRCh37: 6:65098735-65098735
GRCh38: 6:64388842-64388842
26 EYS NM_001142800.2(EYS):c.5450G>A (p.Trp1817Ter) SNV Pathogenic 802233 rs983691310 GRCh37: 6:65300310-65300310
GRCh38: 6:64590417-64590417
27 EYS NM_001142800.2(EYS):c.5182del (p.Ser1728fs) Deletion Pathogenic 802234 rs1562079278 GRCh37: 6:65300578-65300578
GRCh38: 6:64590685-64590685
28 EYS NM_001142800.2(EYS):c.4651G>T (p.Glu1551Ter) SNV Pathogenic 802235 rs1305702728 GRCh37: 6:65301109-65301109
GRCh38: 6:64591216-64591216
29 EYS NM_001142800.2(EYS):c.4120C>T (p.Arg1374Ter) SNV Pathogenic 802236 rs928803207 GRCh37: 6:65301640-65301640
GRCh38: 6:64591747-64591747
30 EYS NM_001142800.2(EYS):c.2981del (p.Pro994fs) Deletion Pathogenic 802237 rs1583260302 GRCh37: 6:65596601-65596601
GRCh38: 6:64886708-64886708
31 EYS NM_001142800.2(EYS):c.2820_2824del (p.Gly941fs) Deletion Pathogenic 802238 rs1583277585 GRCh37: 6:65612028-65612032
GRCh38: 6:64902135-64902139
32 EYS NM_001142800.2(EYS):c.2748C>A (p.Cys916Ter) SNV Pathogenic 802239 rs1391928253 GRCh37: 6:65612104-65612104
GRCh38: 6:64902211-64902211
33 EYS NM_001142800.2(EYS):c.2053_2054TG[1] (p.Ala686fs) Microsatellite Pathogenic 802240 rs1583442540 GRCh37: 6:65767588-65767589
GRCh38: 6:65057695-65057696
34 EYS NM_001142800.2(EYS):c.1328dup (p.Asn443fs) Duplication Pathogenic 802241 rs1582176424 GRCh37: 6:66063481-66063482
GRCh38: 6:65353588-65353589
35 EYS NM_001142800.2(EYS):c.4613_4616del (p.Leu1538fs) Deletion Pathogenic 811908 rs1582929649 GRCh37: 6:65301144-65301147
GRCh38: 6:64591251-64591254
36 EYS NM_001142800.2(EYS):c.875_890delinsTTTCT (p.Glu292fs) Indel Pathogenic 829892 rs1582249186 GRCh37: 6:66115233-66115248
GRCh38: 6:65405340-65405355
37 PHF3 , EYS NM_001142800.2(EYS):c.8816G>C (p.Cys2939Ser) SNV Pathogenic 812124 rs1582139965 GRCh37: 6:64431111-64431111
GRCh38: 6:63721215-63721215
38 PHF3 , EYS NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) SNV Pathogenic 560452 rs137853190 GRCh37: 6:64430522-64430522
GRCh38: 6:63720626-63720626
39 EYS NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) SNV Pathogenic 208578 rs797045089 GRCh37: 6:64791792-64791792
GRCh38: 6:64081899-64081899
40 PHF3 , EYS NM_001142800.2(EYS):c.8793_8796del (p.Gln2931fs) Deletion Pathogenic 493434 rs1554163919 GRCh37: 6:64431131-64431134
GRCh38: 6:63721235-63721238
41 EYS NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) Deletion Pathogenic 195936 rs761238771 GRCh37: 6:65301404-65301410
GRCh38: 6:64591511-64591517
42 EYS NM_001142800.2(EYS):c.6794del (p.Pro2265fs) Deletion Pathogenic 281325 rs758109813 GRCh37: 6:64709008-64709008
GRCh38: 6:63999115-63999115
43 EYS NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) SNV Pathogenic 236447 rs143994166 GRCh37: 6:66112400-66112400
GRCh38: 6:65402507-65402507
44 EYS NM_001142800.2(EYS):c.6714del (p.Ile2239fs) Deletion Pathogenic 357699 rs752953889 GRCh37: 6:64776242-64776242
GRCh38: 6:64066349-64066349
45 EYS NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) Duplication Pathogenic 143105 rs527236065 GRCh37: 6:65300802-65300803
GRCh38: 6:64590909-64590910
46 EYS NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) SNV Pathogenic 236448 rs878853350 GRCh37: 6:65016917-65016917
GRCh38: 6:64307024-64307024
47 EYS NM_001142800.2(EYS):c.78_79dup (p.Gln27fs) Duplication Pathogenic 1032663 GRCh37: 6:66205224-66205225
GRCh38: 6:65495331-65495332
48 EYS NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter) SNV Pathogenic 632492 rs779983752 GRCh37: 6:64436534-64436534
GRCh38: 6:63726641-63726641
49 EYS NM_001142800.2(EYS):c.988G>A (p.Glu330Lys) SNV Pathogenic 287292 rs144803840 GRCh37: 6:66115135-66115135
GRCh38: 6:65405242-65405242
50 EYS NM_001142800.2(EYS):c.4199C>A (p.Ser1400Ter) SNV Pathogenic 853292 GRCh37: 6:65301561-65301561
GRCh38: 6:64591668-64591668

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 25:

72 (show all 16)
# Symbol AA change Variation ID SNP ID
1 EYS p.Gly618Ser VAR_063445 rs142450703
2 EYS p.Thr1110Ser VAR_063451 rs143327210
3 EYS p.Cys1176Arg VAR_063453
4 EYS p.Ile1232Phe VAR_063454 rs190009374
5 EYS p.Asp1682Tyr VAR_063465 rs75831552
6 EYS p.Glu1747Gly VAR_063467 rs535663619
7 EYS p.Leu1869Met VAR_063470
8 EYS p.Cys2139Tyr VAR_063478 rs749909863
9 EYS p.Leu2189Pro VAR_063480
10 EYS p.Ala2829Thr VAR_063486 rs111991705
11 EYS p.Cys2911Tyr VAR_063488
12 EYS p.Gly2928Glu VAR_063489
13 EYS p.Trp1484Arg VAR_064417 rs126040059
14 EYS p.Gly2017Val VAR_064418 rs868349465
15 EYS p.Glu2503Lys VAR_064419 rs768964978
16 EYS p.Gln2945Glu VAR_064420

Expression for Retinitis Pigmentosa 25

Search GEO for disease gene expression data for Retinitis Pigmentosa 25.

Pathways for Retinitis Pigmentosa 25

GO Terms for Retinitis Pigmentosa 25

Cellular components related to Retinitis Pigmentosa 25 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.8 RPGR RIMS1 PRPH2 LCA5 IMPG1 EYS
2 photoreceptor inner segment GO:0001917 9.5 PRPH2 IMPG1 CRB1
3 photoreceptor disc membrane GO:0097381 9.37 PDE6G PDE6A
4 interphotoreceptor matrix GO:0033165 9.16 IMPG1 EYS
5 photoreceptor outer segment membrane GO:0042622 9.13 PDE6G PDE6A CDHR1
6 photoreceptor outer segment GO:0001750 9.02 RPGR PRPH2 IMPG1 EYS CRB1

Biological processes related to Retinitis Pigmentosa 25 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.73 RPGR RIMS1 PRPH2 PDE6G PDE6A EYS
2 retina development in camera-type eye GO:0060041 9.54 PRPH2 PDE6A CRB1
3 photoreceptor cell maintenance GO:0045494 9.5 LCA5 CRB1 CDHR1
4 intraciliary transport GO:0042073 9.48 RPGR LCA5
5 mRNA stabilization GO:0048255 9.46 TENT5D TENT5A
6 regulation of rhodopsin mediated signaling pathway GO:0022400 9.43 PDE6G PDE6A
7 rhodopsin mediated signaling pathway GO:0016056 9.4 PDE6G PDE6A
8 detection of light stimulus involved in visual perception GO:0050908 9.33 PRPH2 EYS CRB1
9 visual perception GO:0007601 9.28 RPGR RIMS1 PRPH2 PDE6G PDE6A IMPG1
10 photoreceptor cell outer segment organization GO:0035845 9.13 PRPH2 CRB1 CDHR1

Molecular functions related to Retinitis Pigmentosa 25 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 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 8.96 PDE6G PDE6A
3 RNA adenylyltransferase activity GO:1990817 8.62 TENT5D TENT5A

Sources for Retinitis Pigmentosa 25

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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