RP1
MCID: RTN172
MIFTS: 44

Retinitis Pigmentosa 1 (RP1)

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

Aliases & Classifications for Retinitis Pigmentosa 1

MalaCards integrated aliases for Retinitis Pigmentosa 1:

Name: Retinitis Pigmentosa 1 56 12 52 73 29 13 54 6 43 15 71
Rp1 56 12 52 73
Retinitis Pigmentosa, Type 1 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
genetic heterogeneity (see )
dominant inheritance form(s) in 3 to 4% of cases



Classifications:



External Ids:

Disease Ontology 12 DOID:0110390
OMIM 56 180100
OMIM Phenotypic Series 56 PS268000
ICD10 32 H35.5
MedGen 41 C0220701
UMLS 71 C0220701

Summaries for Retinitis Pigmentosa 1

UniProtKB/Swiss-Prot : 73 Retinitis pigmentosa 1: 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 1, also known as rp1, is related to retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene and retinal ciliopathy. An important gene associated with Retinitis Pigmentosa 1 is RP1 (RP1 Axonemal Microtubule Associated), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include retina, bone and eye, and related phenotypes are myopia and nyctalopia

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the RP1 gene on chromosome 8q12.

More information from OMIM: 180100 PS268000

Related Diseases for Retinitis Pigmentosa 1

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

(show top 50) (show all 109)
# Related Disease Score Top Affiliating Genes
1 retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene 32.6 LOC105371046 IFT140
2 retinal ciliopathy 31.6 RPGR RP1 LOC105371046 IFT140
3 inherited retinal disorder 31.1 RPGR RP1L1 RP1 RHO PRPH2 PDE6A
4 leber congenital amaurosis 1 30.9 RP1 RHO PRPH2 IMPDH1 CRX CNGA1
5 yemenite deaf-blind hypopigmentation syndrome 30.5 RPGR RHO
6 cone dystrophy 30.3 RPGR RHO PRPH2
7 night blindness 29.9 RPGR RHO PRPH2 NRL
8 retinitis pigmentosa 10 29.4 RPGR IMPDH1
9 macular degeneration, age-related, 1 29.0 RPGR RP1L1 RHO PRPH2 NRL CRYAA
10 fundus dystrophy 28.4 RPGR RP1L1 RP1 ROM1 RHO PRPH2
11 retinitis 28.4 RPGR RP1 ROM1 RHO PRPH2 PDE6A
12 usher syndrome 28.2 RPGR ROM1 RHO PRPH2 PDE6A CRX
13 bardet-biedl syndrome 27.8 RPGR ROM1 RHO PRPH2 PDE6A IMPDH1
14 stargardt disease 27.8 RPGR RP1L1 ROM1 RHO PRPH2 PDE6A
15 cone-rod dystrophy 2 27.7 RPGR ROM1 RHO PRPH2 PDE6A NRL
16 retinal disease 27.2 RPGR ROM1 RHO PRPH2 PDE6A NRL
17 retinal degeneration 26.5 RPGR RP1 ROM1 RHO PRPH2 PDE6G
18 retinitis pigmentosa 26.3 SEBOX RPGR RP1L1 RP1 ROM1 RHO
19 cone-rod dystrophy 1 11.3
20 joubert syndrome with jeune asphyxiating thoracic dystrophy 10.5 LOC105371046 IFT140
21 retinitis pigmentosa 80 10.5 LOC105371046 IFT140
22 retinitis pigmentosa 74 10.4 RP1L1 IFT140
23 stargardt macular degeneration 10.4 RHO PRPH2
24 neuroretinitis 10.4
25 retinitis pigmentosa 62 10.4 RP1L1 IFT140
26 occult macular dystrophy 10.4 RP1L1 PRPH2
27 retinitis pigmentosa 54 10.4 RP1L1 IFT140
28 intraocular retinoblastoma 10.3 CRYAA CRX
29 colorectal cancer 10.3
30 familial adenomatous polyposis 10.3
31 butterfly-shaped pigment dystrophy 10.2 ROM1 PRPH2
32 patterned macular dystrophy 10.2 ROM1 RHO
33 hypertriglyceridemia, familial 10.2
34 leber congenital amaurosis 7 10.1 IMPDH1 CRX
35 macular dystrophy, dominant cystoid 10.1 PRPH2 PDE6A CRYAA
36 retinitis pigmentosa 9 10.1 NRL IMPDH1
37 leber congenital amaurosis 8 10.1 IMPDH1 CRX
38 retinitis pigmentosa 55 10.1 RPGR RP1L1
39 retinitis pigmentosa 40 10.1 RPGR IFT140
40 red-green color blindness 10.1 RPGR RHO
41 cone-rod dystrophy, x-linked, 3 10.1 RPGR CRYAA
42 retinitis pigmentosa 4 10.1 RPGR RHO
43 cone-rod dystrophy 3 10.1 CRYAA CRX
44 optic disk drusen 10.1 RPGR RHO
45 leber congenital amaurosis 9 10.0 IMPDH1 CRX
46 retinal detachment 10.0
47 bardet-biedl syndrome 1 10.0
48 retinitis pigmentosa-deafness syndrome 10.0
49 microphthalmia, syndromic 10 10.0
50 joint laxity, short stature, and myopia 10.0

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 1:



Diseases related to Retinitis Pigmentosa 1

Symptoms & Phenotypes for Retinitis Pigmentosa 1

Human phenotypes related to Retinitis Pigmentosa 1:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 myopia 31 HP:0000545
2 nyctalopia 31 HP:0000662
3 rod-cone dystrophy 31 HP:0000510
4 constriction of peripheral visual field 31 HP:0001133
5 bone spicule pigmentation of the retina 31 HP:0007737
6 undetectable light- and dark-adapted electroretinogram 31 HP:0007688

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
night blindness
retinitis pigmentosa
constricted visual fields
retinal 'bone corpuscle' pigmentation
myopia, moderate

Laboratory Abnormalities:
absent cone and rod functions by electroretinogram (erg)

Clinical features from OMIM:

180100

MGI Mouse Phenotypes related to Retinitis Pigmentosa 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.93 CRX DCX IFT140 NRL PDE6A PDE6G
2 vision/eye MP:0005391 9.44 CRX IFT140 IMPDH1 NRL PDE6A PDE6G
3 pigmentation MP:0001186 9.35 CRX NRL PRPH2 RHO RPGR

Drugs & Therapeutics for Retinitis Pigmentosa 1

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 1

Cochrane evidence based reviews: retinitis pigmentosa 1

Genetic Tests for Retinitis Pigmentosa 1

Genetic tests related to Retinitis Pigmentosa 1:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 1 29 RP1

Anatomical Context for Retinitis Pigmentosa 1

MalaCards organs/tissues related to Retinitis Pigmentosa 1:

40
Retina, Bone, Eye

Publications for Retinitis Pigmentosa 1

Articles related to Retinitis Pigmentosa 1:

(show top 50) (show all 66)
# Title Authors PMID Year
1
Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa. 6 56
15863674 2005
2
A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus. 6 56
10401003 1999
3
A new family linked to the RP1 dominant retinitis pigmentosa locus on chromosome 8q. 6 56
10465120 1999
4
Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. 56 6
10391211 1999
5
Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. 56 6
10391212 1999
6
Genetic mapping of RP1 on 8q11-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285. 6 56
8931712 1996
7
Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. 56 6
1783394 1991
8
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
9
Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia. 56
25883087 2015
10
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
11
RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation. 56
22052604 2012
12
Distinct gene expression profiles and reduced JNK signaling in retinitis pigmentosa caused by RP1 mutations. 56
16126734 2005
13
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000
14
Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa. 56
10484783 1999
15
Linkage analysis of human chromosome 4: exclusion of autosomal dominant retinitis pigmentosa (ADRP) and detection of new linkage groups. 56
2572401 1989
16
Linkage analysis of five pedigrees affected with typical autosomal dominant retinitis pigmentosa. 56
7120314 1982
17
Possible assignment of a dominant retinitis pigmentosa gene to chromosome 1. 56
6803203 1982
18
A maximum likelihood map of chromosome 1. 56
293128 1979
19
Probable genetic linkage between autosomal dominant retinitis pigmentosa (RP) and amylase (AMY2): evidence of an RP locus on chromosome 1. 56
879170 1977
20
Linkage studies of typical retinitis pigmentosa and common markers. 56
17948536 1975
21
[Preliminary results of a survey on the incidence and geographic distribution of tapeto-retinal degeneration in Switzerland (study of 5 cantons)]. 56
13860992 1961
22
Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India. 61 54
18552984 2008
23
A novel missense RP1 mutation in retinitis pigmentosa. 61 54
15933747 2006
24
Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene. 54 61
12724644 2003
25
Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations. 61 54
12634863 2003
26
Hypertriglyceridemia associated with amino acid variation Asn985Tyr of the RP1 gene. 54 61
12764676 2003
27
Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I. 61 54
8154871 1994
28
RP1L1 and Inherited Photoreceptor Disease: A Review. 61
32360662 2020
29
Utility of en-face imaging in diagnosis of occult macular dystrophy with RP1L1 mutation: A case series. 61
31193770 2019
30
Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa. 61
30027431 2018
31
Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort. 61
30025130 2018
32
ERG and OCT findings of a patient with a clinical diagnosis of occult macular dystrophy in a patient of Ashkenazi Jewish descent associated with a novel mutation in the gene encoding RP1L1. 61
28473427 2017
33
A reverse genetic approach identifies an ancestral frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breeds. 61
27510606 2016
34
Multimodal Approach to Monitoring and Investigating Cone Structure and Function in an Inherited Macular Dystrophy. 61
25908487 2015
35
Isobaric Tags for Relative and Absolute Quantitation-Based Proteomic Analysis of Patent and Constricted Ductus Arteriosus Tissues Confirms the Systemic Regulation of Ductus Arteriosus Closure. 61
25915513 2015
36
[Efficacy of intravitreal dexamethasone implants in macular edema excluding venous occlusions: results for a cohort of 80 patients]. 61
25592383 2015
37
A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration. 61
25088982 2014
38
Occult macular dystrophy with bilateral chronic subfoveal serous retinal detachment associated with a novel RP1L1 mutation (p.S1199P). 61
24838559 2014
39
FGF signaling emerged concomitantly with the origin of Eumetazoans. 61
24222650 2014
40
Clinical and genetic characteristics of Korean occult macular dystrophy patients. 61
23745001 2013
41
Identification of a novel p.R1443W mutation in RP1 gene associated with retinitis pigmentosa sine pigmento. 61
23991373 2013
42
Characterizing the phenotype and genotype of a family with occult macular dystrophy. 61
23229695 2012
43
Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa. 61
23049240 2012
44
Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype. 61
22927954 2012
45
Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family. 61
23077400 2012
46
Gene mapping and mutation screening in candidate genes in a Chinese family of autosomal dominant retinitis pigmentosa. 61
22567862 2012
47
Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survival. 61
21148103 2010
48
Dominant mutations in RP1L1 are responsible for occult macular dystrophy. 61
20826268 2010
49
Differential pattern of RP1 mutations in retinitis pigmentosa. 61
20664799 2010
50
Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa. 61
19657028 2009

Variations for Retinitis Pigmentosa 1

ClinVar genetic disease variations for Retinitis Pigmentosa 1:

6 (show all 29) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RP1 NM_006269.2(RP1):c.3843del (p.Pro1282fs)deletion Pathogenic 437957 rs769601671 8:55540279-55540279 8:54627719-54627719
2 RP1 NM_006269.2(RP1):c.5105_5109del (p.Asp1702fs)deletion Pathogenic 522458 rs1278053918 8:55541544-55541548 8:54628984-54628988
3 RP1 NM_006269.2(RP1):c.366_367GC[3] (p.Pro124fs)short repeat Pathogenic 560493 rs1246397238 8:55533891-55533892 8:54621331-54621332
4 RP1 NM_006269.2(RP1):c.2335del (p.Ser779fs)deletion Pathogenic 560492 rs1563330595 8:55538777-55538777 8:54626217-54626217
5 RP1 NM_006269.2(RP1):c.3396G>A (p.Trp1132Ter)SNV Pathogenic 800956 8:55539838-55539838 8:54627278-54627278
6 RP1 NM_006269.2(RP1):c.2029C>T (p.Arg677Ter)SNV Pathogenic 5965 rs104894082 8:55538471-55538471 8:54625911-54625911
7 RP1 NM_006269.2(RP1):c.2280_2284TAAAT[1] (p.Leu762fs)short repeat Pathogenic 5966 rs869320726 8:55538722-55538726 8:54626162-54626166
8 RP1 NM_006269.2(RP1):c.2287_2290del (p.Asn763fs)deletion Pathogenic 5967 rs869320727 8:55538727-55538730 8:54626167-54626170
9 RP1 NM_006269.2(RP1):c.2035C>T (p.Gln679Ter)SNV Pathogenic 5968 rs104894083 8:55538477-55538477 8:54625917-54625917
10 RP1 NM_006269.2(RP1):c.1458_1461dup (p.Glu488Ter)duplication Pathogenic 5971 rs869320728 8:55537899-55537900 8:54625339-54625340
11 RP1 NM_006269.2(RP1):c.4743dup (p.Cys1582fs)duplication Pathogenic 268180 rs886041040 8:55541178-55541179 8:54628618-54628619
12 RP1 NM_006269.2(RP1):c.1451C>A (p.Ser484Ter)SNV Pathogenic/Likely pathogenic 560491 rs1563329888 8:55537893-55537893 8:54625333-54625333
13 RP1 NM_006269.2(RP1):c.6236C>G (p.Ser2079Ter)SNV Likely pathogenic 829981 8:55542678-55542678 8:54630118-54630118
14 RP1 NM_006269.2(RP1):c.4196del (p.Cys1399fs)deletion Likely pathogenic 225457 rs762951570 8:55540638-55540638 8:54628078-54628078
15 RP1 NM_006269.2(RP1):c.228C>T (p.Leu76=)SNV Conflicting interpretations of pathogenicity 167601 rs142600056 8:55533754-55533754 8:54621194-54621194
16 RP1 NM_006269.2(RP1):c.4735T>G (p.Leu1579Val)SNV Conflicting interpretations of pathogenicity 77363 rs200860068 8:55541177-55541177 8:54628617-54628617
17 RP1 NM_006269.2(RP1):c.1380G>C (p.Lys460Asn)SNV Conflicting interpretations of pathogenicity 811132 8:55537822-55537822 8:54625262-54625262
18 RP1 NM_006269.2(RP1):c.3317T>C (p.Val1106Ala)SNV Uncertain significance 811821 8:55539759-55539759 8:54627199-54627199
19 RP1 NM_006269.2(RP1):c.2716G>A (p.Ala906Thr)SNV Uncertain significance 167603 rs201538234 8:55539158-55539158 8:54626598-54626598
20 RP1 NM_006269.2(RP1):c.3132A>C (p.Lys1044Asn)SNV Likely benign 281509 rs35234349 8:55539574-55539574 8:54627014-54627014
21 RP1 NM_006269.2(RP1):c.3504G>A (p.Lys1168=)SNV Likely benign 811991 8:55539946-55539946 8:54627386-54627386
22 RP1 NM_006269.2(RP1):c.2511A>G (p.Gln837=)SNV Likely benign 812014 8:55538953-55538953 8:54626393-54626393
23 RP1 NM_006269.2(RP1):c.510T>G (p.Val170=)SNV Likely benign 811349 8:55534036-55534036 8:54621476-54621476
24 RP1 NM_006269.2(RP1):c.615+19C>TSNV Likely benign 811348 8:55534160-55534160 8:54621600-54621600
25 RP1 NM_006269.2(RP1):c.1118C>T (p.Thr373Ile)SNV Benign/Likely benign 5970 rs77775126 8:55537560-55537560 8:54625000-54625000
26 RP1 NM_006269.2(RP1):c.3699C>T (p.Ser1233=)SNV Benign 363293 rs114557304 8:55540141-55540141 8:54627581-54627581
27 RP1 NM_006269.2(RP1):c.4784G>A (p.Arg1595Gln)SNV Benign 363303 rs35084330 8:55541226-55541226 8:54628666-54628666
28 RP1 NM_006269.2(RP1):c.2991T>C (p.Asn997=)SNV Benign 363288 rs112667487 8:55539433-55539433 8:54626873-54626873
29 RP1 NM_006269.2(RP1):c.2255C>T (p.Thr752Met)SNV Benign 100579 rs28399531 8:55538697-55538697 8:54626137-54626137

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 1:

73
# Symbol AA change Variation ID SNP ID
1 RP1 p.Asp202Glu VAR_064182
2 RP1 p.Ala669Thr VAR_064468 rs201725231
3 RP1 p.Asp984Gly VAR_064471 rs200135800
4 RP1 p.Lys900Asn VAR_066951
5 RP1 p.Thr2113Asn VAR_066959 rs137887415
6 RP1 p.Leu172Arg VAR_068351 rs180729424

Expression for Retinitis Pigmentosa 1

Search GEO for disease gene expression data for Retinitis Pigmentosa 1.

Pathways for Retinitis Pigmentosa 1

GO Terms for Retinitis Pigmentosa 1

Cellular components related to Retinitis Pigmentosa 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.76 RPGR RP1L1 RP1 ROM1 RHO PRPH2
2 cilium GO:0005929 9.73 RPGR RP1L1 RP1 IFT140
3 axoneme GO:0005930 9.62 RP1L1 RP1 IFT140 DCX
4 photoreceptor inner segment GO:0001917 9.58 RP1 RHO PRPH2
5 photoreceptor connecting cilium GO:0032391 9.54 RP1L1 RP1 IFT140
6 photoreceptor disc membrane GO:0097381 9.43 RHO PDE6G PDE6A
7 photoreceptor outer segment membrane GO:0042622 9.26 ROM1 RHO PDE6G CNGA1
8 photoreceptor outer segment GO:0001750 9.23 RPGR RP1L1 RP1 ROM1 RHO PRPH2

Biological processes related to Retinitis Pigmentosa 1 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.76 RPGR RP1L1 RP1 IFT140
2 response to stimulus GO:0050896 9.73 RPGR RP1L1 RP1 ROM1 RHO PRPH2
3 regulation of rhodopsin mediated signaling pathway GO:0022400 9.67 RHO PDE6G PDE6A CNGA1
4 retina development in camera-type eye GO:0060041 9.63 RP1L1 RP1 RHO PRPH2 PDE6A DCX
5 photoreceptor cell maintenance GO:0045494 9.61 RP1L1 RP1 RHO
6 axoneme assembly GO:0035082 9.58 RP1L1 RP1 DCX
7 rhodopsin mediated signaling pathway GO:0016056 9.56 RHO PDE6G PDE6A CNGA1
8 intraciliary transport GO:0042073 9.55 RPGR IFT140
9 cellular response to light stimulus GO:0071482 9.54 RP1 RHO
10 retina morphogenesis in camera-type eye GO:0060042 9.52 RP1 ROM1
11 photoreceptor cell outer segment organization GO:0035845 9.51 RP1 IFT140
12 photoreceptor cell development GO:0042461 9.5 RP1L1 RP1 DCX
13 retinal rod cell development GO:0046548 9.49 RP1 NRL
14 phototransduction, visible light GO:0007603 9.48 RP1 RHO
15 visual perception GO:0007601 9.4 RPGR RP1L1 RP1 ROM1 RHO PRPH2

Molecular functions related to Retinitis Pigmentosa 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.26 PDE6G PDE6A
2 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 9.16 PDE6G PDE6A
3 cGMP binding GO:0030553 8.96 PDE6G CNGA1
4 leucine zipper domain binding GO:0043522 8.62 NRL CRX

Sources for Retinitis Pigmentosa 1

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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