RP4
MCID: RTN066
MIFTS: 36

Retinitis Pigmentosa 4 (RP4)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 4

MalaCards integrated aliases for Retinitis Pigmentosa 4:

Name: Retinitis Pigmentosa 4 58 12 54 76 30 6 15 74
Rp4 58 12 76
Retinitis Pigmentosa 4, Autosomal Dominant or Recessive 58 13
Retinitis Pigmentosa, Rhodopsin-Related 58
Retinitis Pigmentosa, Type 4 41
Rp 4 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
mild asymmetric regional disease (e.g. )
onset in first decade (e.g. )


HPO:

33

Classifications:



External Ids:

Disease Ontology 12 DOID:0110372
OMIM 58 613731
MeSH 45 D012174
ICD10 34 H35.5
MedGen 43 C3151001
UMLS 74 C3151001

Summaries for Retinitis Pigmentosa 4

UniProtKB/Swiss-Prot : 76 Retinitis pigmentosa 4: 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 4, also known as rp4, is related to colorectal cancer and retinitis pigmentosa 1. An important gene associated with Retinitis Pigmentosa 4 is RHO (Rhodopsin). Affiliated tissues include eye and skeletal muscle, and related phenotypes are cataract and blindness

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the RHO gene on chromosome 3q22.

Description from OMIM: 613731

Related Diseases for Retinitis Pigmentosa 4

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
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 colorectal cancer 10.0
2 retinitis pigmentosa 1 10.0
3 polycythemia vera 10.0
4 cholera 10.0
5 retinitis pigmentosa 9.9
6 leber congenital amaurosis 4 9.9
7 retinitis 9.9

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 4:



Diseases related to Retinitis Pigmentosa 4

Symptoms & Phenotypes for Retinitis Pigmentosa 4

Human phenotypes related to Retinitis Pigmentosa 4:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 cataract 33 HP:0000518
2 blindness 33 HP:0000618
3 abnormal electroretinogram 33 HP:0000512
4 nyctalopia 33 HP:0000662
5 visual field defect 33 HP:0001123
6 rod-cone dystrophy 33 HP:0000510
7 pigmentary retinopathy 33 HP:0000580

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
pigmentary retinopathy
retinitis pigmentosa
abnormal electroretinograms in heterozygotes
inferior and inferonasal retinal pigmentation (e.g. )
superior hemisphere field impairment (e.g. )
more

Clinical features from OMIM:

613731

Drugs & Therapeutics for Retinitis Pigmentosa 4

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 4

Genetic Tests for Retinitis Pigmentosa 4

Genetic tests related to Retinitis Pigmentosa 4:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 4 30 RHO

Anatomical Context for Retinitis Pigmentosa 4

MalaCards organs/tissues related to Retinitis Pigmentosa 4:

42
Eye, Skeletal Muscle

Publications for Retinitis Pigmentosa 4

Articles related to Retinitis Pigmentosa 4:

(show top 50) (show all 208)
# Title Authors Year
1
Use of RP4::Mini-Mu for Gene Transfer. ( 29134603 )
2018
2
Long noncoding RNA RP4 functions as a competing endogenous RNA through miR-7-5p sponge activity in colorectal cancer. ( 29531464 )
2018
3
Antirestriction activities of KlcA (RP4) and ArdB (R64) proteins. ( 30239714 )
2018
4
Selective [3+1] Fragmentations of P4 by "P" Transfer from a Lewis Acid Stabilized [RP4 ]- Butterfly Anion. ( 27900815 )
2017
5
The inhibitory activity of ginsenoside Rp4 in adenosine diphosphate-induced platelet aggregation. ( 28123327 )
2017
6
Effects of nano-TiO2 on antibiotic resistance transfer mediated by RP4 plasmid. ( 25676619 )
2015
7
Ionic Liquid Facilitates the Conjugative Transfer of Antibiotic Resistance Genes Mediated by Plasmid RP4. ( 26120784 )
2015
8
Conjugative transfer of a derivative of the IncP-1α plasmid RP4 and establishment of transconjugants in the indigenous bacterial community of poplar plants. ( 26490946 )
2015
9
Comparison of fundus autofluorescence with photopic and scotopic fine matrix mapping in patients with retinitis pigmentosa: 4- to 8-year follow-up. ( 22899761 )
2012
10
Synergism between baltergin metalloproteinase and Ba SPII RP4 PLA2 from Bothrops alternatus venom on skeletal muscle (C2C12) cells. ( 22133569 )
2012
11
Linkage analysis and mutation screening of the rhodopsin gene in a Chinese Bai family with autosomal dominant retinitis pigmentosa. ( 20555336 )
2010
12
Isolation and functional characterization of a new acidic PLA(2) Ba SpII RP4 of the Bothrops alternatus snake venom from Argentina. ( 20331996 )
2010
13
Silent mischief: bacteriophage Mu insertions contaminate products of Escherichia coli random mutagenesis performed using suicidal transposon delivery plasmids mobilized by broad-host-range RP4 conjugative machinery. ( 20935093 )
2010
14
Crystal structure of KorA bound to operator DNA: insight into repressor cooperation in RP4 gene regulation. ( 19190096 )
2009
15
Construction of an improved RP4 (RK2)-based conjugative system. ( 18638548 )
2008
16
Transfer of antibiotic multiresistant plasmid RP4 from escherichia coli to activated sludge bacteria. ( 18930008 )
2008
17
Interaction of Bacteroides fragilis pLV22a relaxase and transfer DNA with Escherichia coli RP4-TraG coupling protein. ( 17919288 )
2007
18
Suppression of wild-type rhodopsin maturation by mutants linked to autosomal dominant retinitis pigmentosa. ( 15509574 )
2005
19
A new family of mobilizable suicide plasmids based on broad host range R388 plasmid (IncW) and RP4 plasmid (IncPalpha) conjugative machineries and their cognate Escherichia coli host strains. ( 15748991 )
2005
20
Horizontal transfer of Yersinia high-pathogenicity island by the conjugative RP4 attB target-presenting shuttle plasmid. ( 16045617 )
2005
21
Retinoids assist the cellular folding of the autosomal dominant retinitis pigmentosa opsin mutant P23H. ( 14769795 )
2004
22
Modified RP4 and Tn5-Mob derivatives for facilitated manipulation of large plasmids in Gram-negative bacteria. ( 15212888 )
2004
23
The VirB4 family of proposed traffic nucleoside triphosphatases: common motifs in plasmid RP4 TrbE are essential for conjugation and phage adsorption. ( 12533481 )
2003
24
TraG-like proteins of type IV secretion systems: functional dissection of the multiple activities of TraG (RP4) and TrwB (R388). ( 12867445 )
2003
25
RP4 repressor protein KorB binds to the major groove of the operator DNA: a Raman study. ( 14661959 )
2003
26
Evidence of increased spread and establishment of plasmid RP4 in the intestine under sub-inhibitory tetracycline concentrations. ( 19719638 )
2003
27
A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system. ( 12091393 )
2002
28
An Src homology 3-like domain is responsible for dimerization of the repressor protein KorB encoded by the promiscuous IncP plasmid RP4. ( 11711548 )
2002
29
RP4-based plasmids for conjugation between Escherichia coli and members of the Vibrionaceae. ( 12474404 )
2002
30
Mutation analysis of codons 345 and 347 of rhodopsin gene in Indian retinitis pigmentosa patients. ( 11910130 )
2001
31
A relationship between RP4 plasmid acquisition and phenotypic changes in Pseudomonas fluorescens R2fN. ( 11520003 )
2001
32
Antirestriction protein Ard (Type C) encoded by IncW plasmid pSa has a high similarity to the "protein transport" domain of TraC1 primase of promiscuous plasmid RP4. ( 10686096 )
2000
33
TraG from RP4 and TraG and VirD4 from Ti plasmids confer relaxosome specificity to the conjugal transfer system of pTiC58. ( 10692358 )
2000
34
Components of the RP4 conjugative transfer apparatus form an envelope structure bridging inner and outer membranes of donor cells: implications for related macromolecule transport systems. ( 10692361 )
2000
35
Sequence-related protein export NTPases encoded by the conjugative transfer region of RP4 and by the cag pathogenicity island of Helicobacter pylori share similar hexameric ring structures. ( 10716714 )
2000
36
Conjugative junctions in RP4-mediated mating of Escherichia coli. ( 10781537 )
2000
37
Enzymology of type IV macromolecule secretion systems: the conjugative transfer regions of plasmids RP4 and R388 and the cag pathogenicity island of Helicobacter pylori encode structurally and functionally related nucleoside triphosphate hydrolases. ( 10781544 )
2000
38
Interaction between the RP4 coupling protein TraG and the pBHR1 mobilization protein Mob. ( 10998162 )
2000
39
Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation. ( 10980774 )
2000
40
Tn4371: A modular structure encoding a phage-like integrase, a Pseudomonas-like catabolic pathway, and RP4/Ti-like transfer functions. ( 9887305 )
1999
41
Monitoring the conjugal transfer of plasmid RP4 in activated sludge and in situ identification of the transconjugants. ( 10234817 )
1999
42
Thermodynamic properties and DNA binding of the ParD protein from the broad host-range plasmid RK2/RP4 killing system. ( 10661868 )
1999
43
Conjugative transfer of RP4-oriT shuttle vectors from Escherichia coli to Clostridium perfringens. ( 9514706 )
1998
44
Decreased symbiotic effectiveness of Rhizobium leguminosarum strains carrying plasmid RP4. ( 9570119 )
1998
45
Transfer of plasmid RP4 in the spermosphere and rhizosphere of barley seedling. ( 9602280 )
1998
46
Autosomal dominant retinitis pigmentosa with a rhodopsin mutation (Arg-135-Trp). Disease phenotype in a Swedish family. ( 9197578 )
1997
47
The traE gene of plasmid RP4 encodes a homologue of Escherichia coli DNA topoisomerase III. ( 9235964 )
1997
48
Group II intron from Pseudomonas alcaligenes NCIB 9867 (P25X): entrapment in plasmid RP4 and sequence analysis. ( 9274037 )
1997
49
The ParB protein encoded by the RP4 par region is a Ca(2+)-dependent nuclease linearizing circular DNA substrates. ( 9421913 )
1997
50
Autosomal-dominant retinitis pigmentosa associated with an Arg-135-Trp point mutation of the rhodopsin gene. Clinical features and longitudinal observations. ( 8841304 )
1996

Variations for Retinitis Pigmentosa 4

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 4:

76 (show top 50) (show all 66)
# Symbol AA change Variation ID SNP ID
1 RHO p.Thr4Lys VAR_004765
2 RHO p.Asn15Ser VAR_004766 rs104893786
3 RHO p.Thr17Met VAR_004767 rs104893769
4 RHO p.Pro23His VAR_004768 rs104893768
5 RHO p.Pro23Leu VAR_004769
6 RHO p.Gln28His VAR_004770
7 RHO p.Leu40Arg VAR_004771
8 RHO p.Met44Thr VAR_004772 rs774336493
9 RHO p.Phe45Leu VAR_004773 rs104893770
10 RHO p.Leu46Arg VAR_004774
11 RHO p.Gly51Arg VAR_004776 rs104893792
12 RHO p.Gly51Val VAR_004777
13 RHO p.Pro53Arg VAR_004778 rs28933395
14 RHO p.Thr58Arg VAR_004779 rs28933394
15 RHO p.Val87Asp VAR_004781 rs104893771
16 RHO p.Gly89Asp VAR_004782 rs104893772
17 RHO p.Gly106Arg VAR_004786 rs104893773
18 RHO p.Gly106Trp VAR_004787 rs104893773
19 RHO p.Gly109Arg VAR_004788 rs141516029
20 RHO p.Cys110Phe VAR_004789
21 RHO p.Cys110Tyr VAR_004790 rs104893787
22 RHO p.Gly114Asp VAR_004791 rs104893788
23 RHO p.Leu125Arg VAR_004792
24 RHO p.Ser127Phe VAR_004793
25 RHO p.Leu131Pro VAR_004794
26 RHO p.Arg135Gly VAR_004795
27 RHO p.Arg135Leu VAR_004796 rs104893774
28 RHO p.Arg135Trp VAR_004797 rs104893775
29 RHO p.Cys140Ser VAR_004798
30 RHO p.Glu150Lys VAR_004799 rs104893791
31 RHO p.Ala164Glu VAR_004800 rs104893793
32 RHO p.Ala164Val VAR_004801 rs104893793
33 RHO p.Cys167Arg VAR_004802
34 RHO p.Pro171Leu VAR_004803
35 RHO p.Pro171Gln VAR_004804
36 RHO p.Pro171Ser VAR_004805 rs104893794
37 RHO p.Tyr178Cys VAR_004806 rs104893776
38 RHO p.Tyr178Asn VAR_004807
39 RHO p.Glu181Lys VAR_004808 rs775557680
40 RHO p.Gly182Ser VAR_004809 rs104893780
41 RHO p.Ser186Pro VAR_004810
42 RHO p.Gly188Glu VAR_004811 rs142413184
43 RHO p.Gly188Arg VAR_004812 rs527236100
44 RHO p.Asp190Asn VAR_004813 rs104893779
45 RHO p.Asp190Gly VAR_004814 rs104893777
46 RHO p.Asp190Tyr VAR_004815 rs104893779
47 RHO p.Met207Arg VAR_004816 rs104893782
48 RHO p.His211Pro VAR_004818 rs28933993
49 RHO p.His211Arg VAR_004819
50 RHO p.Met216Lys VAR_004820

ClinVar genetic disease variations for Retinitis Pigmentosa 4:

6 (show top 50) (show all 95)
# Gene Variation Type Significance SNP ID Assembly Location
1 RHO NM_000539.3(RHO): c.68C> A (p.Pro23His) single nucleotide variant Pathogenic rs104893768 GRCh37 Chromosome 3, 129247644: 129247644
2 RHO NM_000539.3(RHO): c.68C> A (p.Pro23His) single nucleotide variant Pathogenic rs104893768 GRCh38 Chromosome 3, 129528801: 129528801
3 RHO NM_000539.3(RHO): c.1040C> T (p.Pro347Leu) single nucleotide variant Pathogenic rs29001566 GRCh37 Chromosome 3, 129252554: 129252554
4 RHO NM_000539.3(RHO): c.1040C> T (p.Pro347Leu) single nucleotide variant Pathogenic rs29001566 GRCh38 Chromosome 3, 129533711: 129533711
5 RHO NM_000539.3(RHO): c.1039C> T (p.Pro347Ser) single nucleotide variant Pathogenic rs29001637 GRCh37 Chromosome 3, 129252553: 129252553
6 RHO NM_000539.3(RHO): c.1039C> T (p.Pro347Ser) single nucleotide variant Pathogenic rs29001637 GRCh38 Chromosome 3, 129533710: 129533710
7 RHO NM_000539.3(RHO): c.173C> G (p.Thr58Arg) single nucleotide variant Pathogenic rs28933394 GRCh37 Chromosome 3, 129247749: 129247749
8 RHO NM_000539.3(RHO): c.173C> G (p.Thr58Arg) single nucleotide variant Pathogenic rs28933394 GRCh38 Chromosome 3, 129528906: 129528906
9 RHO RHO, 3-BP DEL, ILE255DEL deletion Pathogenic
10 RHO NM_000539.3(RHO): c.50C> T (p.Thr17Met) single nucleotide variant Pathogenic rs104893769 GRCh37 Chromosome 3, 129247626: 129247626
11 RHO NM_000539.3(RHO): c.50C> T (p.Thr17Met) single nucleotide variant Pathogenic rs104893769 GRCh38 Chromosome 3, 129528783: 129528783
12 RHO NM_000539.3(RHO): c.133T> C (p.Phe45Leu) single nucleotide variant Pathogenic rs104893770 GRCh37 Chromosome 3, 129247709: 129247709
13 RHO NM_000539.3(RHO): c.133T> C (p.Phe45Leu) single nucleotide variant Pathogenic rs104893770 GRCh38 Chromosome 3, 129528866: 129528866
14 RHO NM_000539.3(RHO): c.260T> A (p.Val87Asp) single nucleotide variant Pathogenic rs104893771 GRCh37 Chromosome 3, 129247836: 129247836
15 RHO NM_000539.3(RHO): c.260T> A (p.Val87Asp) single nucleotide variant Pathogenic rs104893771 GRCh38 Chromosome 3, 129528993: 129528993
16 RHO NM_000539.3(RHO): c.266G> A (p.Gly89Asp) single nucleotide variant Pathogenic rs104893772 GRCh37 Chromosome 3, 129247842: 129247842
17 RHO NM_000539.3(RHO): c.266G> A (p.Gly89Asp) single nucleotide variant Pathogenic rs104893772 GRCh38 Chromosome 3, 129528999: 129528999
18 RHO NM_000539.3(RHO): c.316G> T (p.Gly106Trp) single nucleotide variant Pathogenic rs104893773 GRCh37 Chromosome 3, 129247892: 129247892
19 RHO NM_000539.3(RHO): c.316G> T (p.Gly106Trp) single nucleotide variant Pathogenic rs104893773 GRCh38 Chromosome 3, 129529049: 129529049
20 RHO NM_000539.3(RHO): c.568G> A (p.Asp190Asn) single nucleotide variant Pathogenic rs104893779 GRCh37 Chromosome 3, 129251131: 129251131
21 RHO NM_000539.3(RHO): c.568G> A (p.Asp190Asn) single nucleotide variant Pathogenic rs104893779 GRCh38 Chromosome 3, 129532288: 129532288
22 RHO NM_000539.3(RHO): c.404G> T (p.Arg135Leu) single nucleotide variant Pathogenic rs104893774 GRCh37 Chromosome 3, 129249761: 129249761
23 RHO NM_000539.3(RHO): c.404G> T (p.Arg135Leu) single nucleotide variant Pathogenic rs104893774 GRCh38 Chromosome 3, 129530918: 129530918
24 RHO NM_000539.3(RHO): c.533A> G (p.Tyr178Cys) single nucleotide variant Pathogenic rs104893776 GRCh37 Chromosome 3, 129251096: 129251096
25 RHO NM_000539.3(RHO): c.533A> G (p.Tyr178Cys) single nucleotide variant Pathogenic rs104893776 GRCh38 Chromosome 3, 129532253: 129532253
26 RHO NM_000539.3(RHO): c.569A> G (p.Asp190Gly) single nucleotide variant Pathogenic rs104893777 GRCh37 Chromosome 3, 129251132: 129251132
27 RHO NM_000539.3(RHO): c.569A> G (p.Asp190Gly) single nucleotide variant Pathogenic rs104893777 GRCh38 Chromosome 3, 129532289: 129532289
28 RHO NM_000539.3(RHO): c.632A> C (p.His211Pro) single nucleotide variant Pathogenic rs28933993 GRCh37 Chromosome 3, 129251195: 129251195
29 RHO NM_000539.3(RHO): c.632A> C (p.His211Pro) single nucleotide variant Pathogenic rs28933993 GRCh38 Chromosome 3, 129532352: 129532352
30 RHO NM_000539.3(RHO): c.403C> T (p.Arg135Trp) single nucleotide variant Pathogenic rs104893775 GRCh37 Chromosome 3, 129249760: 129249760
31 RHO NM_000539.3(RHO): c.403C> T (p.Arg135Trp) single nucleotide variant Pathogenic rs104893775 GRCh38 Chromosome 3, 129530917: 129530917
32 RHO NM_000539.3(RHO): c.1030C> T (p.Gln344Ter) single nucleotide variant Pathogenic rs104893778 GRCh37 Chromosome 3, 129252544: 129252544
33 RHO NM_000539.3(RHO): c.1030C> T (p.Gln344Ter) single nucleotide variant Pathogenic rs104893778 GRCh38 Chromosome 3, 129533701: 129533701
34 RHO NM_000539.3(RHO): c.886A> G (p.Lys296Glu) single nucleotide variant Pathogenic rs29001653 GRCh37 Chromosome 3, 129251565: 129251565
35 RHO NM_000539.3(RHO): c.886A> G (p.Lys296Glu) single nucleotide variant Pathogenic rs29001653 GRCh38 Chromosome 3, 129532722: 129532722
36 RHO RHO, 12-BP DEL, EX1 deletion Pathogenic
37 RHO NM_000539.3(RHO): c.1040C> G (p.Pro347Arg) single nucleotide variant Pathogenic rs29001566 GRCh37 Chromosome 3, 129252554: 129252554
38 RHO NM_000539.3(RHO): c.1040C> G (p.Pro347Arg) single nucleotide variant Pathogenic rs29001566 GRCh38 Chromosome 3, 129533711: 129533711
39 RHO NM_000539.3(RHO): c.544G> A (p.Gly182Ser) single nucleotide variant Pathogenic rs104893780 GRCh37 Chromosome 3, 129251107: 129251107
40 RHO NM_000539.3(RHO): c.544G> A (p.Gly182Ser) single nucleotide variant Pathogenic rs104893780 GRCh38 Chromosome 3, 129532264: 129532264
41 RHO NM_000539.3(RHO): c.800C> T (p.Pro267Leu) single nucleotide variant Pathogenic rs104893781 GRCh37 Chromosome 3, 129251479: 129251479
42 RHO NM_000539.3(RHO): c.800C> T (p.Pro267Leu) single nucleotide variant Pathogenic rs104893781 GRCh38 Chromosome 3, 129532636: 129532636
43 RHO NM_000539.3(RHO): c.329G> A (p.Cys110Tyr) single nucleotide variant Pathogenic rs104893787 GRCh37 Chromosome 3, 129247905: 129247905
44 RHO NM_000539.3(RHO): c.329G> A (p.Cys110Tyr) single nucleotide variant Pathogenic rs104893787 GRCh38 Chromosome 3, 129529062: 129529062
45 RHO NM_000539.3(RHO): c.158C> G (p.Pro53Arg) single nucleotide variant Pathogenic/Likely pathogenic rs28933395 GRCh37 Chromosome 3, 129247734: 129247734
46 RHO NM_000539.3(RHO): c.158C> G (p.Pro53Arg) single nucleotide variant Pathogenic/Likely pathogenic rs28933395 GRCh38 Chromosome 3, 129528891: 129528891
47 RHO NM_000539.3(RHO): c.316G> A (p.Gly106Arg) single nucleotide variant Pathogenic rs104893773 GRCh37 Chromosome 3, 129247892: 129247892
48 RHO NM_000539.3(RHO): c.316G> A (p.Gly106Arg) single nucleotide variant Pathogenic rs104893773 GRCh38 Chromosome 3, 129529049: 129529049
49 RHO RHO, IVS4AS, G-T, +1 single nucleotide variant Pathogenic
50 RHO NM_000539.3(RHO): c.568G> T (p.Asp190Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs104893779 GRCh37 Chromosome 3, 129251131: 129251131

Expression for Retinitis Pigmentosa 4

Search GEO for disease gene expression data for Retinitis Pigmentosa 4.

Pathways for Retinitis Pigmentosa 4

GO Terms for Retinitis Pigmentosa 4

Sources for Retinitis Pigmentosa 4

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