RP73
MCID: RTN177
MIFTS: 48

Retinitis Pigmentosa 73 (RP73)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 73

MalaCards integrated aliases for Retinitis Pigmentosa 73:

Name: Retinitis Pigmentosa 73 58 12 76 30 6 15
Rp73 58 12 76
Retinitis Pigmentosa, Type 73 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable age at onset of symptoms (from childhood to the sixth decade of life)


HPO:

33
retinitis pigmentosa 73:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110389
OMIM 58 616544
MeSH 45 D012174
ICD10 34 H35.5

Summaries for Retinitis Pigmentosa 73

UniProtKB/Swiss-Prot : 76 Retinitis pigmentosa 73: 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 73, also known as rp73, is related to cystic fibrosis and urethritis. An important gene associated with Retinitis Pigmentosa 73 is HGSNAT (Heparan-Alpha-Glucosaminide N-Acetyltransferase), and among its related pathways/superpathways are Innate Immune System and HIV Life Cycle. Affiliated tissues include bone, eye and retina, and related phenotypes are pallor and nyctalopia

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the HGSNAT gene on chromosome 8p11.

Description from OMIM: 616544

Related Diseases for Retinitis Pigmentosa 73

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

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 cystic fibrosis 10.3
2 urethritis 10.2 TLR1 TLR6
3 neurosyphilis 10.2 TLR1 TLR2 TLR6
4 superficial basal cell carcinoma 10.2 TLR7 TLR8 TLR9
5 ocular toxoplasmosis 10.2 TLR1 TLR5 TLR9
6 mucocutaneous leishmaniasis 10.2 TLR3 TLR9
7 variola major 10.2 TLR3 TLR4
8 crimean-congo hemorrhagic fever 10.2 F3 TLR10 TLR8
9 lyme disease 10.2 TLR1 TLR2 TLR6
10 juvenile nasopharyngeal angiofibroma 10.1 TLR3 TLR7 TLR9
11 mycobacterium abscessus 10.1 CFTR TLR1 TLR2
12 prosthetic joint infection 10.1 TLR2 TLR4
13 trench fever 10.1 TLR2 TLR4
14 fungal keratitis 10.1 TLR2 TLR4
15 oral cavity cancer 10.0 TLR2 TLR6 TLR9
16 typhoid fever 10.0 CFTR TLR4 TLR5
17 bronchiolitis 10.0 TLR10 TLR4 TLR9
18 nontuberculous mycobacterial lung disease 10.0 CFTR TLR2
19 retinal vasculitis 10.0 CCL2 TLR3
20 ileitis 10.0 TLR2 TLR4 TLR5
21 legionellosis 10.0 TLR2 TLR4 TLR5
22 viral infectious disease 10.0 TLR3 TLR7 TLR8 TLR9
23 toxoplasmosis 10.0 TLR2 TLR4 TLR9
24 myositis fibrosa 10.0 TLR2 TLR4 TLR9
25 middle ear disease 9.9 TLR2 TLR4 TLR9
26 filarial elephantiasis 9.9 TLR2 TLR9
27 endocervicitis 9.9 CCL2 TLR4
28 leptospirosis 9.9 CCL2 TLR1 TLR2
29 mouth disease 9.9 TLR3 TLR4 TLR9
30 primary bacterial infectious disease 9.9 TLR2 TLR4 TLR9
31 cutaneous leishmaniasis 9.9 TLR2 TLR4 TLR9
32 leishmaniasis 9.9 TLR2 TLR4 TLR9
33 visceral leishmaniasis 9.9 TLR2 TLR4 TLR9
34 legionnaires' disease 9.9 TLR4 TLR5 TLR6 TLR9
35 scrub typhus 9.9 F3 TLR2 TLR4
36 q fever 9.9 TLR1 TLR10 TLR2 TLR4
37 congenital cytomegalovirus 9.9 CCL2 TLR2
38 anterior uveitis 9.9 CCL2 TLR4
39 penicilliosis 9.9 TLR1 TLR2 TLR4 TLR6
40 bacteriuria 9.9 CCL2 TLR1 TLR4
41 acute cervicitis 9.9 CXCL1 TLR2 TLR4
42 trypanosomiasis 9.8 CCL2 TLR2 TLR9
43 arteries, anomalies of 9.8 CCL2 F3 TLR9
44 extrinsic cardiomyopathy 9.8 CCL2 TLR4 TLR9
45 suppurative otitis media 9.8 TLR2 TLR4 TLR5 TLR9
46 septic arthritis 9.8 TLR2 TLR4 TLR5 TLR9
47 mycobacterium tuberculosis 1 9.8 TLR1 TLR2 TLR4 TLR9
48 aspergillosis 9.8 CFTR TLR2 TLR4 TLR9
49 pulmonary disease, chronic obstructive 9.8 CCL2 CFTR TLR2
50 proteasome-associated autoinflammatory syndrome 1 9.8 CCL2 TLR2 TLR4

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 73:



Diseases related to Retinitis Pigmentosa 73

Symptoms & Phenotypes for Retinitis Pigmentosa 73

Human phenotypes related to Retinitis Pigmentosa 73:

33
# Description HPO Frequency HPO Source Accession
1 pallor 33 HP:0000980
2 nyctalopia 33 HP:0000662
3 rod-cone dystrophy 33 HP:0000510
4 constriction of peripheral visual field 33 HP:0001133
5 retinal atrophy 33 HP:0001105

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
retinal atrophy
night blindness
visual field constriction
choroidal sclerosis
attenuation of retinal vessels
more

Clinical features from OMIM:

616544

MGI Mouse Phenotypes related to Retinitis Pigmentosa 73:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.1 CFTR F3 HGSNAT TLR1 TLR2 TLR3
2 immune system MP:0005387 9.97 CCL2 CFTR F3 HGSNAT TLR1 TLR2
3 homeostasis/metabolism MP:0005376 9.96 CFTR F3 HGSNAT TLR2 TLR3 TLR4
4 renal/urinary system MP:0005367 9.43 HGSNAT TLR2 TLR4 TLR7 TLR8 TLR9
5 respiratory system MP:0005388 9.17 CFTR F3 HGSNAT TLR2 TLR3 TLR4

Drugs & Therapeutics for Retinitis Pigmentosa 73

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 73

Genetic Tests for Retinitis Pigmentosa 73

Genetic tests related to Retinitis Pigmentosa 73:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 73 30 HGSNAT

Anatomical Context for Retinitis Pigmentosa 73

MalaCards organs/tissues related to Retinitis Pigmentosa 73:

42
Bone, Eye, Retina

Publications for Retinitis Pigmentosa 73

Articles related to Retinitis Pigmentosa 73:

# Title Authors Year
1
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). ( 25859010 )
2015
2
Persistent cystic fibrosis isolate Pseudomonas aeruginosa strain RP73 exhibits an under-acylated LPS structure responsible of its low inflammatory activity. ( 24856407 )
2015
3
Complete Genome Sequence of Persistent Cystic Fibrosis Isolate Pseudomonas aeruginosa Strain RP73. ( 23908295 )
2013
4
Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). ( 20583299 )
2010
5
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. ( 19479962 )
2009
6
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). ( 17033958 )
2006

Variations for Retinitis Pigmentosa 73

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 73:

76
# Symbol AA change Variation ID SNP ID
1 HGSNAT p.Arg152Trp VAR_075814
2 HGSNAT p.Gly161Ala VAR_075815

ClinVar genetic disease variations for Retinitis Pigmentosa 73:

6 (show all 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 HGSNAT NM_152419.2(HGSNAT): c.493+1G> A single nucleotide variant Pathogenic rs193066451 GRCh37 Chromosome 8, 43014188: 43014188
2 HGSNAT NM_152419.2(HGSNAT): c.493+1G> A single nucleotide variant Pathogenic rs193066451 GRCh38 Chromosome 8, 43159045: 43159045
3 HGSNAT NM_152419.2(HGSNAT): c.1345dupG (p.Asp449Glyfs) duplication Conflicting interpretations of pathogenicity rs483352894 GRCh37 Chromosome 8, 43047541: 43047541
4 HGSNAT NM_152419.2(HGSNAT): c.1345dupG (p.Asp449Glyfs) duplication Conflicting interpretations of pathogenicity rs483352894 GRCh38 Chromosome 8, 43192398: 43192398
5 HGSNAT NM_152419.2(HGSNAT): c.848C> T (p.Pro283Leu) single nucleotide variant Likely pathogenic rs121908282 GRCh37 Chromosome 8, 43028883: 43028883
6 HGSNAT NM_152419.2(HGSNAT): c.848C> T (p.Pro283Leu) single nucleotide variant Likely pathogenic rs121908282 GRCh38 Chromosome 8, 43173740: 43173740
7 HGSNAT NM_152419.2(HGSNAT): c.234+1G> A single nucleotide variant Pathogenic rs483352908 GRCh37 Chromosome 8, 43002207: 43002207
8 HGSNAT NM_152419.2(HGSNAT): c.234+1G> A single nucleotide variant Pathogenic rs483352908 GRCh38 Chromosome 8, 43147064: 43147064
9 HGSNAT NM_152419.2(HGSNAT): c.1840G> A (p.Val614Ile) single nucleotide variant Benign/Likely benign rs73675469 GRCh37 Chromosome 8, 43054644: 43054644
10 HGSNAT NM_152419.2(HGSNAT): c.1840G> A (p.Val614Ile) single nucleotide variant Benign/Likely benign rs73675469 GRCh38 Chromosome 8, 43199501: 43199501
11 HGSNAT NM_152419.2(HGSNAT): c.398G> C (p.Gly133Ala) single nucleotide variant Pathogenic rs797045120 GRCh38 Chromosome 8, 43158949: 43158949
12 HGSNAT NM_152419.2(HGSNAT): c.398G> C (p.Gly133Ala) single nucleotide variant Pathogenic rs797045120 GRCh37 Chromosome 8, 43014092: 43014092
13 HGSNAT NM_152419.2(HGSNAT): c.370A> T (p.Arg124Trp) single nucleotide variant Uncertain significance rs754875934 GRCh37 Chromosome 8, 43013853: 43013853
14 HGSNAT NM_152419.2(HGSNAT): c.370A> T (p.Arg124Trp) single nucleotide variant Uncertain significance rs754875934 GRCh38 Chromosome 8, 43158710: 43158710
15 HGSNAT NM_152419.2(HGSNAT): c.1843G> A (p.Ala615Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112029032 GRCh38 Chromosome 8, 43199504: 43199504
16 HGSNAT NM_152419.2(HGSNAT): c.1843G> A (p.Ala615Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112029032 GRCh37 Chromosome 8, 43054647: 43054647
17 HGSNAT NM_152419.2(HGSNAT): c.1411G> A (p.Glu471Lys) single nucleotide variant Pathogenic/Likely pathogenic rs753355844 GRCh37 Chromosome 8, 43048933: 43048933
18 HGSNAT NM_152419.2(HGSNAT): c.1411G> A (p.Glu471Lys) single nucleotide variant Pathogenic/Likely pathogenic rs753355844 GRCh38 Chromosome 8, 43193790: 43193790
19 HGSNAT NM_152419.2(HGSNAT): c.1693G> C (p.Gly565Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs148632988 GRCh38 Chromosome 8, 43197919: 43197919
20 HGSNAT NM_152419.2(HGSNAT): c.1693G> C (p.Gly565Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs148632988 GRCh37 Chromosome 8, 43053062: 43053062
21 HGSNAT NM_152419.2(HGSNAT): c.1567A> C (p.Lys523Gln) single nucleotide variant Benign/Likely benign rs73569592 GRCh38 Chromosome 8, 43197696: 43197696
22 HGSNAT NM_152419.2(HGSNAT): c.1567A> C (p.Lys523Gln) single nucleotide variant Benign/Likely benign rs73569592 GRCh37 Chromosome 8, 43052839: 43052839
23 HGSNAT NM_152419.2(HGSNAT): c.739delA (p.Arg247Glyfs) deletion Pathogenic rs1085307880 GRCh37 Chromosome 8, 43025833: 43025833
24 HGSNAT NM_152419.2(HGSNAT): c.739delA (p.Arg247Glyfs) deletion Pathogenic rs1085307880 GRCh38 Chromosome 8, 43170690: 43170690
25 HGSNAT NM_152419.2(HGSNAT): c.1727-9C> G single nucleotide variant Benign rs76750342 GRCh38 Chromosome 8, 43199379: 43199379
26 HGSNAT NM_152419.2(HGSNAT): c.1727-9C> G single nucleotide variant Benign rs76750342 GRCh37 Chromosome 8, 43054522: 43054522
27 HGSNAT NC_000008.11: g.(?_43103529)_(43199589_?)dup duplication Uncertain significance GRCh37 Chromosome 8, 42958672: 43054732
28 HGSNAT NC_000008.11: g.(?_43103529)_(43199589_?)dup duplication Uncertain significance GRCh38 Chromosome 8, 43103529: 43199589
29 HGSNAT NM_152419.2(HGSNAT): c.887C> A (p.Ser296Ter) single nucleotide variant Pathogenic rs372933126 GRCh38 Chromosome 8, 43178109: 43178109
30 HGSNAT NM_152419.2(HGSNAT): c.887C> A (p.Ser296Ter) single nucleotide variant Pathogenic rs372933126 GRCh37 Chromosome 8, 43033252: 43033252
31 HGSNAT NM_152419.2(HGSNAT): c.1347C> T (p.Asp449=) single nucleotide variant Likely benign rs752420375 GRCh37 Chromosome 8, 43047543: 43047543
32 HGSNAT NM_152419.2(HGSNAT): c.1347C> T (p.Asp449=) single nucleotide variant Likely benign rs752420375 GRCh38 Chromosome 8, 43192400: 43192400
33 HGSNAT NM_152419.2(HGSNAT): c.235-9T> G single nucleotide variant Uncertain significance rs913764481 GRCh38 Chromosome 8, 43158566: 43158566
34 HGSNAT NM_152419.2(HGSNAT): c.235-9T> G single nucleotide variant Uncertain significance rs913764481 GRCh37 Chromosome 8, 43013709: 43013709
35 HGSNAT NM_152419.2(HGSNAT): c.34_54dup (p.Leu18_Ser19insLeuLeuAlaAlaSerValLeu) duplication Uncertain significance rs961025173 GRCh37 Chromosome 8, 42995668: 42995668
36 HGSNAT NM_152419.2(HGSNAT): c.34_54dup (p.Leu18_Ser19insLeuLeuAlaAlaSerValLeu) duplication Uncertain significance rs961025173 GRCh38 Chromosome 8, 43140530: 43140550
37 HGSNAT NM_152419.2(HGSNAT): c.607C> T (p.Arg203Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 43024359: 43024359
38 HGSNAT NM_152419.2(HGSNAT): c.607C> T (p.Arg203Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 43169216: 43169216
39 HGSNAT NM_152419.2(HGSNAT): c.1687_1688delGTinsAG (p.Val563Arg) indel Uncertain significance GRCh37 Chromosome 8, 43053056: 43053057
40 HGSNAT NM_152419.2(HGSNAT): c.1687_1688delGTinsAG (p.Val563Arg) indel Uncertain significance GRCh38 Chromosome 8, 43197913: 43197914
41 HGSNAT NM_152419.2(HGSNAT): c.89G> A (p.Gly30Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 43140585: 43140585
42 HGSNAT NM_152419.2(HGSNAT): c.89G> A (p.Gly30Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 42995728: 42995728
43 HGSNAT NM_152419.2(HGSNAT): c.1622C> T (p.Ser541Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 43197848: 43197848
44 HGSNAT NM_152419.2(HGSNAT): c.1622C> T (p.Ser541Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 43052991: 43052991

Expression for Retinitis Pigmentosa 73

Search GEO for disease gene expression data for Retinitis Pigmentosa 73.

Pathways for Retinitis Pigmentosa 73

Pathways related to Retinitis Pigmentosa 73 according to GeneCards Suite gene sharing:

(show all 37)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14 CCL2 CXCL1 CXCL2 HGSNAT TLR1 TLR10
2
Show member pathways
13.63 CFTR TLR1 TLR10 TLR2 TLR3 TLR4
3
Show member pathways
13.57 TLR1 TLR10 TLR2 TLR3 TLR4 TLR5
4
Show member pathways
13.47 CCL2 CXCL1 CXCL2 TLR1 TLR10 TLR2
5
Show member pathways
13.22 TLR1 TLR10 TLR2 TLR3 TLR4 TLR5
6
Show member pathways
13.12 CCL2 CXCL1 CXCL2 TLR1 TLR10 TLR2
7
Show member pathways
12.91 CCL2 CXCL1 CXCL2 TLR2 TLR3 TLR4
8
Show member pathways
12.8 TLR1 TLR10 TLR2 TLR3 TLR4 TLR5
9
Show member pathways
12.73 TLR1 TLR10 TLR2 TLR3 TLR4 TLR5
10 12.64 CCL2 TLR1 TLR2 TLR3 TLR6 TLR7
11
Show member pathways
12.53 TLR1 TLR10 TLR2 TLR3 TLR4 TLR5
12
Show member pathways
12.39 TLR1 TLR2 TLR4 TLR6
13
Show member pathways
12.38 CCL2 CFTR CXCL1 CXCL2 TLR2 TLR5
14
Show member pathways
12.32 CCL2 CXCL1 CXCL2 TLR1 TLR10 TLR2
15
Show member pathways
12.3 CFTR TLR1 TLR2 TLR4 TLR5 TLR6
16 12.24 TLR1 TLR2 TLR4 TLR6 TLR9
17 12.24 TLR1 TLR10 TLR2 TLR3 TLR4 TLR5
18
Show member pathways
12.23 TLR1 TLR10 TLR2 TLR3 TLR4 TLR5
19
Show member pathways
12.18 CFTR F3 TLR2 TLR5
20 12.03 TLR2 TLR4 TLR6
21
Show member pathways
12.02 TLR1 TLR2 TLR4 TLR6
22 12 CCL2 CXCL1 CXCL2 TLR4
23
Show member pathways
11.95 TLR1 TLR10 TLR2 TLR3 TLR4 TLR5
24
Show member pathways
11.91 CCL2 CXCL1 CXCL2
25 11.88 CCL2 CXCL1 CXCL2
26 11.87 CCL2 CXCL1 TLR2 TLR4
27 11.83 CXCL1 CXCL2 TLR4 TLR5
28 11.81 CXCL1 TLR2 TLR4
29
Show member pathways
11.8 CFTR CXCL1 TLR4
30 11.69 CXCL1 CXCL2 TLR2 TLR4 TLR5
31 11.58 TLR1 TLR10 TLR2 TLR3 TLR4 TLR5
32 11.57 CCL2 TLR2 TLR4 TLR9
33 11.5 CCL2 CXCL1 CXCL2
34 11.49 CCL2 TLR2 TLR4
35
Show member pathways
11.44 TLR1 TLR10 TLR2 TLR3 TLR4 TLR5
36 11.19 CCL2 TLR1 TLR2
37 11.05 TLR3 TLR4

GO Terms for Retinitis Pigmentosa 73

Cellular components related to Retinitis Pigmentosa 73 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.97 CFTR F3 HGSNAT TLR1 TLR10 TLR2
2 integral component of plasma membrane GO:0005887 9.91 CFTR TLR1 TLR10 TLR2 TLR3 TLR4
3 cytoplasmic vesicle GO:0031410 9.89 TLR1 TLR2 TLR6 TLR7 TLR9
4 cell surface GO:0009986 9.88 CFTR F3 TLR2 TLR3 TLR4
5 endosome GO:0005768 9.85 CFTR TLR3 TLR4 TLR7 TLR9
6 phagocytic vesicle membrane GO:0030670 9.58 TLR1 TLR2 TLR6
7 early phagosome GO:0032009 9.43 TLR7 TLR9
8 endosome membrane GO:0010008 9.43 CFTR TLR3 TLR4 TLR7 TLR8 TLR9
9 Toll-like receptor 1-Toll-like receptor 2 protein complex GO:0035354 9.26 TLR1 TLR2
10 endolysosome membrane GO:0036020 8.92 TLR3 TLR7 TLR8 TLR9
11 membrane GO:0016020 10.32 CFTR F3 HGSNAT TLR1 TLR10 TLR2
12 plasma membrane GO:0005886 10.1 CFTR F3 HGSNAT TLR1 TLR10 TLR2

Biological processes related to Retinitis Pigmentosa 73 according to GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.99 TLR2 TLR3 TLR4 TLR7 TLR9
2 cellular response to interferon-gamma GO:0071346 9.96 CCL2 TLR2 TLR3 TLR4
3 positive regulation of tumor necrosis factor production GO:0032760 9.93 TLR2 TLR3 TLR4 TLR9
4 positive regulation of chemokine production GO:0032722 9.93 TLR2 TLR3 TLR4 TLR7 TLR9
5 positive regulation of interferon-beta production GO:0032728 9.92 TLR2 TLR3 TLR4 TLR9
6 positive regulation of interleukin-12 production GO:0032735 9.92 TLR2 TLR3 TLR4 TLR9
7 neutrophil chemotaxis GO:0030593 9.91 CCL2 CXCL1 CXCL2
8 positive regulation of JNK cascade GO:0046330 9.91 TLR3 TLR4 TLR9
9 chemokine-mediated signaling pathway GO:0070098 9.9 CCL2 CXCL1 CXCL2
10 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.9 CCL2 TLR2 TLR4 TLR9
11 microglial cell activation GO:0001774 9.89 TLR2 TLR3 TLR6 TLR7 TLR8
12 positive regulation of nitric oxide biosynthetic process GO:0045429 9.88 TLR4 TLR5 TLR6
13 positive regulation of interferon-gamma biosynthetic process GO:0045078 9.88 TLR3 TLR7 TLR8 TLR9
14 positive regulation of interleukin-8 biosynthetic process GO:0045416 9.88 TLR4 TLR7 TLR8 TLR9
15 positive regulation of interleukin-8 production GO:0032757 9.88 TLR2 TLR3 TLR4 TLR5 TLR7 TLR9
16 lipopolysaccharide-mediated signaling pathway GO:0031663 9.86 CCL2 TLR2 TLR4
17 I-kappaB phosphorylation GO:0007252 9.85 TLR2 TLR3 TLR4 TLR7 TLR9
18 positive regulation of interleukin-10 production GO:0032733 9.84 TLR2 TLR4 TLR9
19 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.84 TLR3 TLR4 TLR6
20 toll-like receptor 9 signaling pathway GO:0034162 9.83 TLR7 TLR8 TLR9
21 positive regulation of interferon-alpha biosynthetic process GO:0045356 9.83 TLR3 TLR7 TLR8 TLR9
22 cell activation GO:0001775 9.82 TLR1 TLR2 TLR6
23 response to molecule of bacterial origin GO:0002237 9.82 CXCL2 TLR2 TLR9
24 positive regulation of toll-like receptor signaling pathway GO:0034123 9.81 TLR2 TLR3 TLR5 TLR9
25 MyD88-dependent toll-like receptor signaling pathway GO:0002755 9.81 TLR1 TLR10 TLR2 TLR4 TLR5 TLR6
26 positive regulation of interferon-beta biosynthetic process GO:0045359 9.77 TLR3 TLR4 TLR7 TLR8 TLR9
27 leukocyte chemotaxis GO:0030595 9.75 CXCL1 CXCL2
28 negative regulation of osteoclast differentiation GO:0045671 9.75 TLR3 TLR4
29 necroptotic process GO:0070266 9.75 TLR3 TLR4
30 activation of NF-kappaB-inducing kinase activity GO:0007250 9.75 TLR3 TLR6
31 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.74 TLR4 TLR6
32 positive regulation of macrophage activation GO:0043032 9.74 TLR4 TLR6
33 positive regulation of interleukin-8 secretion GO:2000484 9.74 TLR1 TLR2
34 positive regulation of reactive oxygen species biosynthetic process GO:1903428 9.74 TLR4 TLR6
35 macrophage activation GO:0042116 9.74 TLR1 TLR4
36 MyD88-independent toll-like receptor signaling pathway GO:0002756 9.74 TLR3 TLR4
37 positive regulation of tumor necrosis factor biosynthetic process GO:0042535 9.73 TLR1 TLR4
38 cellular response to lipoteichoic acid GO:0071223 9.73 TLR2 TLR4
39 cellular response to oxidised low-density lipoprotein particle stimulus GO:0140052 9.73 TLR4 TLR6
40 interleukin-1 beta secretion GO:0050702 9.72 TLR4 TLR6
41 negative regulation of MyD88-independent toll-like receptor signaling pathway GO:0034128 9.72 TLR3 TLR4
42 positive regulation of interleukin-6 biosynthetic process GO:0045410 9.72 TLR1 TLR6
43 positive regulation of NLRP3 inflammasome complex assembly GO:1900227 9.72 TLR4 TLR6
44 positive regulation of interleukin-18 production GO:0032741 9.71 TLR2 TLR9
45 tumor necrosis factor production GO:0032640 9.71 TLR2 TLR9
46 cellular response to diacyl bacterial lipopeptide GO:0071726 9.71 TLR2 TLR6
47 toll-like receptor TLR6:TLR2 signaling pathway GO:0038124 9.7 TLR2 TLR6
48 cellular response to triacyl bacterial lipopeptide GO:0071727 9.7 TLR1 TLR2
49 nitric oxide metabolic process GO:0046209 9.69 TLR2 TLR6
50 positive regulation of oxidative stress-induced neuron death GO:1903223 9.69 TLR4 TLR6

Molecular functions related to Retinitis Pigmentosa 73 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.95 TLR1 TLR10 TLR2 TLR3 TLR4 TLR6
2 signaling receptor binding GO:0005102 9.81 CCL2 CXCL1 TLR4 TLR6
3 signaling receptor activity GO:0038023 9.63 TLR1 TLR2 TLR3 TLR4 TLR6 TLR8
4 double-stranded RNA binding GO:0003725 9.61 TLR3 TLR7 TLR8
5 chemokine activity GO:0008009 9.54 CCL2 CXCL1 CXCL2
6 interleukin-1 receptor binding GO:0005149 9.49 TLR5 TLR9
7 siRNA binding GO:0035197 9.46 TLR7 TLR9
8 lipopeptide binding GO:0071723 9.43 TLR1 TLR2 TLR6
9 lipopolysaccharide receptor activity GO:0001875 9.4 TLR2 TLR4
10 Toll-like receptor 2 binding GO:0035663 9.32 TLR1 TLR6
11 transmembrane signaling receptor activity GO:0004888 9.28 TLR1 TLR10 TLR3 TLR4 TLR5 TLR6
12 signaling pattern recognition receptor activity GO:0008329 9.26 TLR2 TLR7 TLR8 TLR9

Sources for Retinitis Pigmentosa 73

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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