RP73
MCID: RTN177
MIFTS: 47

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 57 12 74 29 6 15
Rp73 57 12 74
Retinitis Pigmentosa, Type 73 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
retinitis pigmentosa 73:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110389
MeSH 44 D012174
ICD10 33 H35.5

Summaries for Retinitis Pigmentosa 73

UniProtKB/Swiss-Prot : 74 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 lung disease and cystic fibrosis. 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 eye, retina and bone, 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.

More information from OMIM: 616544 PS268000

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 68)
# Related Disease Score Top Affiliating Genes
1 lung disease 29.6 TLR9 TLR2 CFTR CCL2
2 cystic fibrosis 10.4
3 neurosyphilis 10.3 TLR6 TLR2 TLR1
4 ocular toxoplasmosis 10.3 TLR9 TLR5 TLR1
5 superficial basal cell carcinoma 10.3 TLR9 TLR8 TLR7
6 urethritis 10.3 TLR6 TLR1
7 crimean-congo hemorrhagic fever 10.2 TLR8 TLR10 F3
8 lyme disease 10.2 TLR6 TLR2 TLR1
9 variola major 10.2 TLR4 TLR3
10 mucocutaneous leishmaniasis 10.2 TLR9 TLR3
11 mycobacterium abscessus 10.2 TLR2 TLR1 CFTR
12 prosthetic joint infection 10.2 TLR4 TLR2
13 juvenile nasopharyngeal angiofibroma 10.1 TLR9 TLR7 TLR3
14 trench fever 10.1 TLR4 TLR2
15 typhoid fever 10.1 TLR5 TLR4 CFTR
16 oral cavity cancer 10.1 TLR9 TLR6 TLR2
17 fungal keratitis 10.0 TLR4 TLR2
18 bronchiolitis 10.0 TLR9 TLR4 TLR10
19 ileitis 10.0 TLR5 TLR4 TLR2
20 legionellosis 10.0 TLR5 TLR4 TLR2
21 toxoplasmosis 9.9 TLR9 TLR4 TLR2
22 myositis fibrosa 9.9 TLR9 TLR4 TLR2
23 viral infectious disease 9.9 TLR9 TLR8 TLR7 TLR3
24 middle ear disease 9.9 TLR9 TLR4 TLR2
25 leptospirosis 9.9 TLR2 TLR1 CCL2
26 primary bacterial infectious disease 9.9 TLR9 TLR4 TLR2
27 endocervicitis 9.9 TLR4 CCL2
28 cutaneous leishmaniasis 9.9 TLR9 TLR4 TLR2
29 leishmaniasis 9.9 TLR9 TLR4 TLR2
30 visceral leishmaniasis 9.9 TLR9 TLR4 TLR2
31 mouth disease 9.8 TLR9 TLR4 TLR3
32 congenital cytomegalovirus 9.8 TLR2 CCL2
33 scrub typhus 9.8 TLR4 TLR2 F3
34 q fever 9.8 TLR4 TLR2 TLR10 TLR1
35 penicilliosis 9.8 TLR6 TLR4 TLR2 TLR1
36 bacteriuria 9.8 TLR4 TLR1 CCL2
37 anterior uveitis 9.8 TLR4 CCL2
38 acute cervicitis 9.8 TLR4 TLR2 CXCL1
39 nontuberculous mycobacterial lung disease 9.8 TLR2 CFTR
40 trypanosomiasis 9.7 TLR9 TLR2 CCL2
41 retinal vasculitis 9.7 TLR3 CCL2
42 arteries, anomalies of 9.7 TLR9 F3 CCL2
43 extrinsic cardiomyopathy 9.7 TLR9 TLR4 CCL2
44 suppurative otitis media 9.7 TLR9 TLR5 TLR4 TLR2
45 septic arthritis 9.7 TLR9 TLR5 TLR4 TLR2
46 aspergillosis 9.7 TLR9 TLR4 TLR2 CFTR
47 mycobacterium tuberculosis 1 9.7 TLR9 TLR4 TLR2 TLR1
48 pulmonary disease, chronic obstructive 9.6 TLR2 CFTR CCL2
49 chagas disease 9.6 TLR4 TLR2 CCL2
50 melioidosis 9.6 TLR5 TLR4 TLR2 TLR10 TLR1

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:

32
# Description HPO Frequency HPO Source Accession
1 pallor 32 HP:0000980
2 nyctalopia 32 HP:0000662
3 rod-cone dystrophy 32 HP:0000510
4 constriction of peripheral visual field 32 HP:0001133
5 retinal atrophy 32 HP:0001105

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
retinal atrophy
night blindness
visual field constriction
choroidal sclerosis
attenuation of retinal vessels
more

Clinical features from OMIM:

616544

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 73 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.1 CCL2 CXCL2 TCOF1 TLR1 TLR10 TLR9

MGI Mouse Phenotypes related to Retinitis Pigmentosa 73:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.93 CFTR F3 HGSNAT TLR1 TLR2 TLR3
2 immune system MP:0005387 9.77 CCL2 CFTR F3 HGSNAT TLR1 TLR2
3 respiratory system MP:0005388 9.23 CFTR F3 HGSNAT TCOF1 TLR2 TLR3

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 29 HGSNAT

Anatomical Context for Retinitis Pigmentosa 73

MalaCards organs/tissues related to Retinitis Pigmentosa 73:

41
Eye, Retina, Bone, Lung, Neutrophil

Publications for Retinitis Pigmentosa 73

Articles related to Retinitis Pigmentosa 73:

(show all 17)
# Title Authors PMID Year
1
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). 8 71
25859010 2015
2
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 71
26666451 2016
3
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 71
22234150 2012
4
Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). 71
20583299 2010
5
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. 71
19479962 2009
6
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). 71
17033958 2006
7
Nonsyndromic Retinitis Pigmentosa Overview 71
20301590 2000
8
Aerosolized Bovine Lactoferrin Counteracts Infection, Inflammation and Iron Dysbalance in A Cystic Fibrosis Mouse Model of Pseudomonas aeruginosa Chronic Lung Infection. 38
31052156 2019
9
Resolvin D1 enhances the resolution of lung inflammation caused by long-term Pseudomonas aeruginosa infection. 38
28422188 2018
10
Post-exposure immunization by capsid-modified AdC7 vector expressing Pseudomonas aeruginosa OprF clears P. aeruginosa respiratory infection. 38
29126807 2017
11
Aerosolized bovine lactoferrin reduces neutrophils and pro-inflammatory cytokines in mouse models of Pseudomonas aeruginosa lung infections. 38
28129511 2017
12
Comparative genomics and biological characterization of sequential Pseudomonas aeruginosa isolates from persistent airways infection. 38
26714629 2015
13
Persistent cystic fibrosis isolate Pseudomonas aeruginosa strain RP73 exhibits an under-acylated LPS structure responsible of its low inflammatory activity. 38
24856407 2015
14
A novel signal transduction pathway that modulates rhl quorum sensing and bacterial virulence in Pseudomonas aeruginosa. 38
25166864 2014
15
Long term chronic Pseudomonas aeruginosa airway infection in mice. 38
24686327 2014
16
Complete Genome Sequence of Persistent Cystic Fibrosis Isolate Pseudomonas aeruginosa Strain RP73. 38
23908295 2013
17
The therapeutic potential of the humoral pattern recognition molecule PTX3 in chronic lung infection caused by Pseudomonas aeruginosa. 38
21441447 2011

Variations for Retinitis Pigmentosa 73

ClinVar genetic disease variations for Retinitis Pigmentosa 73:

6 (show all 31)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HGSNAT NM_152419.3(HGSNAT): c.739del (p.Arg247fs) deletion Pathogenic rs1085307880 8:43025833-43025833 8:43170690-43170690
2 HGSNAT NM_152419.3(HGSNAT): c.887C> A (p.Ser296Ter) single nucleotide variant Pathogenic rs372933126 8:43033252-43033252 8:43178109-43178109
3 HGSNAT NM_152419.3(HGSNAT): c.1150C> T (p.Arg384Ter) single nucleotide variant Pathogenic rs775078211 8:43046638-43046638 8:43191495-43191495
4 HGSNAT NM_152419.3(HGSNAT): c.493+1G> A single nucleotide variant Pathogenic rs193066451 8:43014188-43014188 8:43159045-43159045
5 HGSNAT NM_152419.3(HGSNAT): c.234+1G> A single nucleotide variant Pathogenic rs483352908 8:43002207-43002207 8:43147064-43147064
6 HGSNAT NM_152419.3(HGSNAT): c.398G> C (p.Gly133Ala) single nucleotide variant Pathogenic rs797045120 8:43014092-43014092 8:43158949-43158949
7 HGSNAT NM_152419.3(HGSNAT): c.1622C> T (p.Ser541Leu) single nucleotide variant Pathogenic 8:43052991-43052991 8:43197848-43197848
8 HGSNAT NM_152419.3(HGSNAT): c.164T> A (p.Leu55Ter) single nucleotide variant Pathogenic 8:43002136-43002136 8:43146993-43146993
9 HGSNAT NM_152419.3(HGSNAT): c.607C> T (p.Arg203Ter) single nucleotide variant Pathogenic 8:43024359-43024359 8:43169216-43169216
10 HGSNAT NM_152419.3(HGSNAT): c.1030C> T (p.Arg344Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121908285 8:43037305-43037305 8:43182162-43182162
11 HGSNAT NM_152419.3(HGSNAT): c.1411G> A (p.Glu471Lys) single nucleotide variant Pathogenic/Likely pathogenic rs753355844 8:43048933-43048933 8:43193790-43193790
12 HGSNAT NM_152419.3(HGSNAT): c.848C> T (p.Pro283Leu) single nucleotide variant Likely pathogenic rs121908282 8:43028883-43028883 8:43173740-43173740
13 HGSNAT NM_152419.3(HGSNAT): c.1345dup (p.Asp449fs) duplication Conflicting interpretations of pathogenicity rs483352894 8:43047541-43047541 8:43192398-43192398
14 HGSNAT NM_152419.3(HGSNAT): c.1693G> C (p.Gly565Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs148632988 8:43053062-43053062 8:43197919-43197919
15 HGSNAT NM_152419.3(HGSNAT): c.1843G> A (p.Ala615Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112029032 8:43054647-43054647 8:43199504-43199504
16 HGSNAT NM_152419.3(HGSNAT): c.616G> A (p.Asp206Asn) single nucleotide variant Uncertain significance 8:43024368-43024368 8:43169225-43169225
17 HGSNAT NM_152419.3(HGSNAT): c.701C> G (p.Ser234Cys) single nucleotide variant Uncertain significance 8:43025795-43025795 8:43170652-43170652
18 HGSNAT NM_152419.3(HGSNAT): c.713C> T (p.Pro238Leu) single nucleotide variant Uncertain significance 8:43025807-43025807 8:43170664-43170664
19 HGSNAT NM_152419.3(HGSNAT): c.1099G> A (p.Ala367Thr) single nucleotide variant Uncertain significance 8:43037374-43037374 8:43182231-43182231
20 HGSNAT NM_152419.3(HGSNAT): c.1687_1688delinsAG (p.Val563Arg) indel Uncertain significance 8:43053056-43053057 8:43197913-43197914
21 HGSNAT NM_152419.3(HGSNAT): c.89G> A (p.Gly30Glu) single nucleotide variant Uncertain significance 8:42995728-42995728 8:43140585-43140585
22 HGSNAT NM_152419.3(HGSNAT): c.235-9T> G single nucleotide variant Uncertain significance rs913764481 8:43013709-43013709 8:43158566-43158566
23 HGSNAT NM_152419.3(HGSNAT): c.370A> T (p.Arg124Trp) single nucleotide variant Uncertain significance rs754875934 8:43013853-43013853 8:43158710-43158710
24 HGSNAT NM_152419.3(HGSNAT): c.34_54dup (p.Leu12_Leu18dup) duplication Uncertain significance rs961025173 8:42995668-42995668 8:43140530-43140550
25 HGSNAT NM_152419.3(HGSNAT): c.338T> C (p.Leu113Pro) single nucleotide variant Uncertain significance rs765211666 8:43013821-43013821 8:43158678-43158678
26 HGSNAT NM_152419.3(HGSNAT): c.1880A> G (p.Tyr627Cys) single nucleotide variant Uncertain significance rs192857413 8:43054684-43054684 8:43199541-43199541
27 HGSNAT NC_000008.10: g.(?_42958672)_(43054732_?)dup duplication Uncertain significance 8:42958672-43054732 8:43103529-43199589
28 HGSNAT NM_152419.3(HGSNAT): c.1347C> T (p.Asp449=) single nucleotide variant Likely benign rs752420375 8:43047543-43047543 8:43192400-43192400
29 HGSNAT NM_152419.3(HGSNAT): c.1840G> A (p.Val614Ile) single nucleotide variant Benign/Likely benign rs73675469 8:43054644-43054644 8:43199501-43199501
30 HGSNAT NM_152419.3(HGSNAT): c.1567A> C (p.Lys523Gln) single nucleotide variant Benign/Likely benign rs73569592 8:43052839-43052839 8:43197696-43197696
31 HGSNAT NM_152419.3(HGSNAT): c.1727-9C> G single nucleotide variant Benign rs76750342 8:43054522-43054522 8:43199379-43199379

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

74
# Symbol AA change Variation ID SNP ID
1 HGSNAT p.Arg152Trp VAR_075814
2 HGSNAT p.Gly161Ala VAR_075815

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 36)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14 TLR9 TLR8 TLR7 TLR6 TLR5 TLR4
2
Show member pathways
13.63 TLR6 TLR5 TLR4 TLR3 TLR2 TLR10
3
Show member pathways
13.57 TLR9 TLR8 TLR7 TLR6 TLR5 TLR4
4
Show member pathways
13.47 TLR9 TLR8 TLR7 TLR6 TLR5 TLR4
5
Show member pathways
13.22 TLR9 TLR8 TLR7 TLR6 TLR5 TLR4
6
Show member pathways
12.91 TLR4 TLR3 TLR2 CXCL2 CXCL1 CCL2
7
Show member pathways
12.8 TLR9 TLR8 TLR7 TLR6 TLR5 TLR4
8
Show member pathways
12.73 TLR9 TLR8 TLR7 TLR6 TLR5 TLR4
9
Show member pathways
12.7 TLR9 TLR8 TLR7 TLR6 TLR5 TLR4
10 12.64 TLR9 TLR8 TLR7 TLR6 TLR3 TLR2
11
Show member pathways
12.53 TLR9 TLR8 TLR7 TLR6 TLR5 TLR4
12
Show member pathways
12.39 TLR6 TLR4 TLR2 TLR1
13
Show member pathways
12.38 TLR5 TLR2 CXCL2 CXCL1 CFTR CCL2
14
Show member pathways
12.3 TLR9 TLR8 TLR7 TLR6 TLR5 TLR4
15 12.24 TLR9 TLR6 TLR4 TLR2 TLR1
16
Show member pathways
12.23 TLR9 TLR8 TLR7 TLR6 TLR5 TLR4
17
Show member pathways
12.22 TLR9 TLR8 TLR7 TLR6 TLR5 TLR4
18
Show member pathways
12.18 CXCL2 CXCL1 CCL2
19
Show member pathways
12.18 TLR5 TLR2 F3 CFTR
20
Show member pathways
12.11 TLR9 TLR8 TLR7 TLR6 TLR5 TLR4
21 12.07 TLR9 TLR8 TLR7 TLR6 TLR5 TLR4
22
Show member pathways
12.02 TLR6 TLR4 TLR2 TLR1
23 12 TLR4 CXCL2 CXCL1 CCL2
24 12 TLR9 TLR8 TLR7 TLR6 TLR5 TLR4
25 11.88 CXCL2 CXCL1 CCL2
26 11.87 TLR4 TLR2 CXCL1 CCL2
27 11.84 TLR4 TLR2 CXCL1
28 11.81 TLR5 TLR4 CXCL2 CXCL1
29
Show member pathways
11.8 TLR4 CXCL1 CFTR
30 11.69 TLR5 TLR4 TLR2 CXCL2 CXCL1
31 11.57 TLR9 TLR4 TLR2 CCL2
32
Show member pathways
11.54 TLR9 TLR8 TLR7 TLR6 TLR5 TLR4
33 11.5 CXCL2 CXCL1 CCL2
34 11.49 TLR4 TLR2 CCL2
35 11.19 TLR2 TLR1 CCL2
36 11.05 TLR4 TLR3

GO Terms for Retinitis Pigmentosa 73

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.98 TLR6 TLR4 TLR3 TLR2 TLR10 TLR1
2 cytoplasmic vesicle GO:0031410 9.89 TLR9 TLR7 TLR6 TLR2 TLR1
3 endosome GO:0005768 9.88 TLR9 TLR7 TLR4 TLR3 CFTR
4 cell surface GO:0009986 9.85 TLR4 TLR3 TLR2 F3 CFTR
5 phagocytic vesicle membrane GO:0030670 9.58 TLR6 TLR2 TLR1
6 endosome membrane GO:0010008 9.43 TLR9 TLR8 TLR7 TLR4 TLR3 CFTR
7 early phagosome GO:0032009 9.37 TLR9 TLR7
8 Toll-like receptor 1-Toll-like receptor 2 protein complex GO:0035354 9.16 TLR2 TLR1
9 endolysosome membrane GO:0036020 8.92 TLR9 TLR8 TLR7 TLR3
10 plasma membrane GO:0005886 10.1 TLR9 TLR8 TLR7 TLR6 TLR5 TLR4
11 integral component of membrane GO:0016021 10.07 TLR9 TLR8 TLR7 TLR6 TLR5 TLR4

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 cellular response to interferon-gamma GO:0071346 9.96 TLR4 TLR3 TLR2 CCL2
2 positive regulation of tumor necrosis factor production GO:0032760 9.93 TLR9 TLR4 TLR3 TLR2
3 positive regulation of chemokine production GO:0032722 9.93 TLR9 TLR7 TLR4 TLR3 TLR2
4 positive regulation of interferon-beta production GO:0032728 9.92 TLR9 TLR4 TLR3 TLR2
5 positive regulation of interleukin-12 production GO:0032735 9.92 TLR9 TLR4 TLR3 TLR2
6 positive regulation of JNK cascade GO:0046330 9.91 TLR9 TLR4 TLR3
7 neutrophil chemotaxis GO:0030593 9.91 CXCL2 CXCL1 CCL2
8 chemokine-mediated signaling pathway GO:0070098 9.9 CXCL2 CXCL1 CCL2
9 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.89 TLR9 TLR4 TLR2 CCL2
10 microglial cell activation GO:0001774 9.89 TLR8 TLR7 TLR6 TLR3 TLR2
11 positive regulation of nitric oxide biosynthetic process GO:0045429 9.88 TLR6 TLR5 TLR4
12 positive regulation of interferon-gamma biosynthetic process GO:0045078 9.88 TLR9 TLR8 TLR7 TLR3
13 positive regulation of interleukin-8 production GO:0032757 9.88 TLR9 TLR7 TLR5 TLR4 TLR3 TLR2
14 positive regulation of interleukin-8 biosynthetic process GO:0045416 9.87 TLR9 TLR8 TLR7 TLR4
15 lipopolysaccharide-mediated signaling pathway GO:0031663 9.86 TLR4 TLR2 CCL2
16 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.84 TLR6 TLR4 TLR3
17 positive regulation of interleukin-10 production GO:0032733 9.84 TLR9 TLR4 TLR2
18 toll-like receptor 9 signaling pathway GO:0034162 9.83 TLR9 TLR8 TLR7
19 positive regulation of toll-like receptor signaling pathway GO:0034123 9.83 TLR9 TLR5 TLR3 TLR2
20 I-kappaB phosphorylation GO:0007252 9.83 TLR9 TLR7 TLR4 TLR3 TLR2
21 response to molecule of bacterial origin GO:0002237 9.82 TLR9 TLR2 CXCL2
22 cell activation GO:0001775 9.82 TLR6 TLR2 TLR1
23 positive regulation of interferon-alpha biosynthetic process GO:0045356 9.81 TLR9 TLR8 TLR7 TLR3
24 toll-like receptor signaling pathway GO:0002224 9.81 TLR9 TLR8 TLR7 TLR6 TLR4 TLR3
25 regulation of cytokine secretion GO:0050707 9.8 TLR9 TLR8 TLR6 TLR5 TLR2 TLR10
26 positive regulation of interferon-beta biosynthetic process GO:0045359 9.77 TLR9 TLR8 TLR7 TLR4 TLR3
27 negative regulation of osteoclast differentiation GO:0045671 9.75 TLR4 TLR3
28 leukocyte chemotaxis GO:0030595 9.75 CXCL2 CXCL1
29 necroptotic process GO:0070266 9.75 TLR4 TLR3
30 activation of NF-kappaB-inducing kinase activity GO:0007250 9.75 TLR6 TLR3
31 positive regulation of macrophage activation GO:0043032 9.74 TLR6 TLR4
32 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.74 TLR6 TLR4
33 positive regulation of interleukin-8 secretion GO:2000484 9.74 TLR2 TLR1
34 positive regulation of reactive oxygen species biosynthetic process GO:1903428 9.74 TLR6 TLR4
35 positive regulation of tumor necrosis factor biosynthetic process GO:0042535 9.74 TLR4 TLR1
36 MyD88-independent toll-like receptor signaling pathway GO:0002756 9.74 TLR4 TLR3
37 macrophage activation GO:0042116 9.73 TLR4 TLR1
38 cellular response to lipoteichoic acid GO:0071223 9.73 TLR4 TLR2
39 interleukin-1 beta secretion GO:0050702 9.73 TLR6 TLR4
40 cellular response to oxidised low-density lipoprotein particle stimulus GO:0140052 9.72 TLR6 TLR4
41 positive regulation of NLRP3 inflammasome complex assembly GO:1900227 9.72 TLR6 TLR4
42 positive regulation of interleukin-6 biosynthetic process GO:0045410 9.72 TLR6 TLR1
43 negative regulation of MyD88-independent toll-like receptor signaling pathway GO:0034128 9.72 TLR4 TLR3
44 tumor necrosis factor production GO:0032640 9.71 TLR9 TLR2
45 positive regulation of interleukin-18 production GO:0032741 9.71 TLR9 TLR2
46 toll-like receptor TLR6:TLR2 signaling pathway GO:0038124 9.71 TLR6 TLR2
47 cellular response to diacyl bacterial lipopeptide GO:0071726 9.7 TLR6 TLR2
48 toll-like receptor TLR1:TLR2 signaling pathway GO:0038123 9.7 TLR2 TLR1
49 positive regulation of oxidative stress-induced neuron death GO:1903223 9.69 TLR6 TLR4
50 nitric oxide metabolic process GO:0046209 9.69 TLR6 TLR2

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 9.99 TLR6 TLR4 TLR3 TLR2 TLR10 TLR1
2 protein heterodimerization activity GO:0046982 9.85 TLR6 TLR4 TLR2 TLR1 TCOF1
3 signaling receptor activity GO:0038023 9.63 TLR8 TLR6 TLR4 TLR3 TLR2 TLR1
4 double-stranded RNA binding GO:0003725 9.61 TLR8 TLR7 TLR3
5 chemokine activity GO:0008009 9.58 CXCL2 CXCL1 CCL2
6 interleukin-1 receptor binding GO:0005149 9.49 TLR9 TLR5
7 siRNA binding GO:0035197 9.48 TLR9 TLR7
8 lipopeptide binding GO:0071723 9.43 TLR6 TLR2 TLR1
9 lipopolysaccharide receptor activity GO:0001875 9.37 TLR4 TLR2
10 Toll-like receptor 2 binding GO:0035663 9.32 TLR6 TLR1
11 transmembrane signaling receptor activity GO:0004888 9.28 TLR9 TLR8 TLR7 TLR6 TLR5 TLR4
12 signaling pattern recognition receptor activity GO:0008329 9.26 TLR9 TLR8 TLR7 TLR2

Sources for Retinitis Pigmentosa 73

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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