RP73
MCID: RTN177
MIFTS: 46

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 Activated TLR4 signalling. 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 67)
# 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 mucocutaneous leishmaniasis 10.2 TLR3 TLR9
5 superficial basal cell carcinoma 10.2 TLR7 TLR8 TLR9
6 ocular toxoplasmosis 10.2 TLR1 TLR5 TLR9
7 variola major 10.1 TLR3 TLR4
8 crimean-congo hemorrhagic fever 10.1 F3 TLR10 TLR8
9 lyme disease 10.1 TLR1 TLR2 TLR6
10 prosthetic joint infection 10.1 TLR2 TLR4
11 juvenile nasopharyngeal angiofibroma 10.1 TLR3 TLR7 TLR9
12 trench fever 10.1 TLR2 TLR4
13 mycobacterium abscessus 10.0 TLR1 TLR2
14 fungal keratitis 10.0 TLR2 TLR4
15 filarial elephantiasis 10.0 TLR2 TLR9
16 oral cavity cancer 10.0 TLR2 TLR6 TLR9
17 bronchiolitis 10.0 TLR10 TLR4 TLR9
18 retinal vasculitis 10.0 CCL2 TLR3
19 ileitis 10.0 TLR2 TLR4 TLR5
20 legionellosis 10.0 TLR2 TLR4 TLR5
21 aspergillosis 10.0 TLR2 TLR4 TLR9
22 toxoplasmosis 9.9 TLR2 TLR4 TLR9
23 myositis fibrosa 9.9 TLR2 TLR4 TLR9
24 viral infectious disease 9.9 TLR3 TLR7 TLR8 TLR9
25 middle ear disease 9.9 TLR2 TLR4 TLR9
26 endocervicitis 9.9 CCL2 TLR4
27 leptospirosis 9.9 CCL2 TLR1 TLR2
28 primary bacterial infectious disease 9.9 TLR2 TLR4 TLR9
29 cutaneous leishmaniasis 9.9 TLR2 TLR4 TLR9
30 congenital cytomegalovirus 9.9 CCL2 TLR2
31 leishmaniasis 9.9 TLR2 TLR4 TLR9
32 visceral leishmaniasis 9.9 TLR2 TLR4 TLR9
33 mouth disease 9.9 TLR3 TLR4 TLR9
34 anterior uveitis 9.9 CCL2 TLR4
35 scrub typhus 9.9 F3 TLR2 TLR4
36 legionnaires' disease 9.9 TLR4 TLR5 TLR6 TLR9
37 q fever 9.9 TLR1 TLR10 TLR2 TLR4
38 bacteriuria 9.9 CCL2 TLR1 TLR4
39 penicilliosis 9.9 TLR1 TLR2 TLR4 TLR6
40 acute cervicitis 9.9 CXCL1 TLR2 TLR4
41 trypanosomiasis 9.8 CCL2 TLR2 TLR9
42 arteries, anomalies of 9.8 CCL2 F3 TLR9
43 extrinsic cardiomyopathy 9.8 CCL2 TLR4 TLR9
44 suppurative otitis media 9.8 TLR2 TLR4 TLR5 TLR9
45 septic arthritis 9.8 TLR2 TLR4 TLR5 TLR9
46 mycobacterium tuberculosis 1 9.8 TLR1 TLR2 TLR4 TLR9
47 proteasome-associated autoinflammatory syndrome 1 9.8 CCL2 TLR2 TLR4
48 chagas disease 9.7 CCL2 TLR2 TLR4
49 respiratory system disease 9.7 CCL2 TLR4 TLR9
50 spondylarthropathy 9.7 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 F3 HGSNAT TLR1 TLR2 TLR3 TLR4
2 immune system MP:0005387 9.93 CCL2 F3 HGSNAT TLR1 TLR2 TLR3
3 renal/urinary system MP:0005367 9.43 HGSNAT TLR2 TLR4 TLR7 TLR8 TLR9
4 respiratory system MP:0005388 9.1 F3 HGSNAT TLR2 TLR3 TLR4 TLR5

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
Persistent cystic fibrosis isolate Pseudomonas aeruginosa strain RP73 exhibits an under-acylated LPS structure responsible of its low inflammatory activity. ( 24856407 )
2015

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 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 HGSNAT NM_152419.2(HGSNAT): c.1840G> A (p.Val614Ile) single nucleotide variant Benign/Likely benign rs73675469 GRCh37 Chromosome 8, 43054644: 43054644
2 HGSNAT NM_152419.2(HGSNAT): c.1840G> A (p.Val614Ile) single nucleotide variant Benign/Likely benign rs73675469 GRCh38 Chromosome 8, 43199501: 43199501
3 HGSNAT NM_152419.2(HGSNAT): c.398G> C (p.Gly133Ala) single nucleotide variant Pathogenic rs797045120 GRCh38 Chromosome 8, 43158949: 43158949
4 HGSNAT NM_152419.2(HGSNAT): c.398G> C (p.Gly133Ala) single nucleotide variant Pathogenic rs797045120 GRCh37 Chromosome 8, 43014092: 43014092
5 HGSNAT NM_152419.2(HGSNAT): c.370A> T (p.Arg124Trp) single nucleotide variant Uncertain significance rs754875934 GRCh37 Chromosome 8, 43013853: 43013853
6 HGSNAT NM_152419.2(HGSNAT): c.370A> T (p.Arg124Trp) single nucleotide variant Uncertain significance rs754875934 GRCh38 Chromosome 8, 43158710: 43158710
7 HGSNAT NM_152419.2(HGSNAT): c.1843G> A (p.Ala615Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112029032 GRCh38 Chromosome 8, 43199504: 43199504
8 HGSNAT NM_152419.2(HGSNAT): c.1843G> A (p.Ala615Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112029032 GRCh37 Chromosome 8, 43054647: 43054647
9 HGSNAT NM_152419.2(HGSNAT): c.1345dupG (p.Asp449Glyfs) duplication Conflicting interpretations of pathogenicity rs483352894 GRCh37 Chromosome 8, 43047541: 43047541
10 HGSNAT NM_152419.2(HGSNAT): c.1345dupG (p.Asp449Glyfs) duplication Conflicting interpretations of pathogenicity rs483352894 GRCh38 Chromosome 8, 43192398: 43192398
11 HGSNAT NM_152419.2(HGSNAT): c.234+1G> A single nucleotide variant Pathogenic rs483352908 GRCh37 Chromosome 8, 43002207: 43002207
12 HGSNAT NM_152419.2(HGSNAT): c.234+1G> A single nucleotide variant Pathogenic rs483352908 GRCh38 Chromosome 8, 43147064: 43147064
13 HGSNAT NM_152419.2(HGSNAT): c.1693G> C (p.Gly565Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs148632988 GRCh38 Chromosome 8, 43197919: 43197919
14 HGSNAT NM_152419.2(HGSNAT): c.1693G> C (p.Gly565Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs148632988 GRCh37 Chromosome 8, 43053062: 43053062
15 HGSNAT NM_152419.2(HGSNAT): c.1567A> C (p.Lys523Gln) single nucleotide variant Benign/Likely benign rs73569592 GRCh38 Chromosome 8, 43197696: 43197696
16 HGSNAT NM_152419.2(HGSNAT): c.1567A> C (p.Lys523Gln) single nucleotide variant Benign/Likely benign rs73569592 GRCh37 Chromosome 8, 43052839: 43052839
17 HGSNAT NM_152419.2(HGSNAT): c.739delA (p.Arg247Glyfs) deletion Pathogenic rs1085307880 GRCh37 Chromosome 8, 43025833: 43025833
18 HGSNAT NM_152419.2(HGSNAT): c.739delA (p.Arg247Glyfs) deletion Pathogenic rs1085307880 GRCh38 Chromosome 8, 43170690: 43170690
19 HGSNAT NM_152419.2(HGSNAT): c.1727-9C> G single nucleotide variant Benign rs76750342 GRCh37 Chromosome 8, 43054522: 43054522
20 HGSNAT NM_152419.2(HGSNAT): c.1727-9C> G single nucleotide variant Benign rs76750342 GRCh38 Chromosome 8, 43199379: 43199379
21 HGSNAT NC_000008.11: g.(?_43103529)_(43199589_?)dup duplication Uncertain significance GRCh38 Chromosome 8, 43103529: 43199589
22 HGSNAT NC_000008.11: g.(?_43103529)_(43199589_?)dup duplication Uncertain significance GRCh37 Chromosome 8, 42958672: 43054732
23 HGSNAT NM_152419.2(HGSNAT): c.887C> A (p.Ser296Ter) single nucleotide variant Pathogenic rs372933126 GRCh37 Chromosome 8, 43033252: 43033252
24 HGSNAT NM_152419.2(HGSNAT): c.887C> A (p.Ser296Ter) single nucleotide variant Pathogenic rs372933126 GRCh38 Chromosome 8, 43178109: 43178109
25 HGSNAT NM_152419.2(HGSNAT): c.1347C> T (p.Asp449=) single nucleotide variant Likely benign rs752420375 GRCh37 Chromosome 8, 43047543: 43047543
26 HGSNAT NM_152419.2(HGSNAT): c.1347C> T (p.Asp449=) single nucleotide variant Likely benign rs752420375 GRCh38 Chromosome 8, 43192400: 43192400
27 HGSNAT NM_152419.2(HGSNAT): c.235-9T> G single nucleotide variant Uncertain significance rs913764481 GRCh38 Chromosome 8, 43158566: 43158566
28 HGSNAT NM_152419.2(HGSNAT): c.235-9T> G single nucleotide variant Uncertain significance rs913764481 GRCh37 Chromosome 8, 43013709: 43013709
29 HGSNAT NM_152419.2(HGSNAT): c.34_54dup (p.Leu18_Ser19insLeuLeuAlaAlaSerValLeu) duplication Uncertain significance rs961025173 GRCh37 Chromosome 8, 42995668: 42995668
30 HGSNAT NM_152419.2(HGSNAT): c.34_54dup (p.Leu18_Ser19insLeuLeuAlaAlaSerValLeu) duplication Uncertain significance rs961025173 GRCh38 Chromosome 8, 43140530: 43140550
31 HGSNAT NM_152419.2(HGSNAT): c.607C> T (p.Arg203Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 43169216: 43169216
32 HGSNAT NM_152419.2(HGSNAT): c.607C> T (p.Arg203Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 43024359: 43024359
33 HGSNAT NM_152419.2(HGSNAT): c.1687_1688delGTinsAG (p.Val563Arg) indel Uncertain significance GRCh38 Chromosome 8, 43197913: 43197914
34 HGSNAT NM_152419.2(HGSNAT): c.1687_1688delGTinsAG (p.Val563Arg) indel Uncertain significance GRCh37 Chromosome 8, 43053056: 43053057
35 HGSNAT NM_152419.2(HGSNAT): c.89G> A (p.Gly30Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 43140585: 43140585
36 HGSNAT NM_152419.2(HGSNAT): c.89G> A (p.Gly30Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 42995728: 42995728
37 HGSNAT NM_152419.2(HGSNAT): c.1622C> T (p.Ser541Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 43197848: 43197848
38 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 35)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.99 CCL2 CXCL1 CXCL2 HGSNAT TLR1 TLR10
2
Show member pathways
13.55 TLR1 TLR10 TLR2 TLR3 TLR4 TLR5
3
Show member pathways
13.44 CCL2 CXCL1 CXCL2 TLR1 TLR10 TLR2
4
Show member pathways
13.22 TLR1 TLR10 TLR2 TLR3 TLR4 TLR5
5
Show member pathways
13.21 CCL2 CXCL1 CXCL2 TLR1 TLR10 TLR2
6
Show member pathways
12.9 CCL2 CXCL1 CXCL2 TLR2 TLR3 TLR4
7
Show member pathways
12.78 TLR1 TLR10 TLR2 TLR3 TLR4 TLR5
8
Show member pathways
12.73 TLR1 TLR10 TLR2 TLR3 TLR4 TLR5
9 12.64 CCL2 TLR1 TLR2 TLR3 TLR6 TLR7
10
Show member pathways
12.57 CCL2 TLR2 TLR3 TLR4 TLR7 TLR9
11
Show member pathways
12.5 TLR1 TLR10 TLR2 TLR3 TLR4 TLR5
12
Show member pathways
12.39 TLR1 TLR2 TLR4 TLR6
13
Show member pathways
12.33 TLR1 TLR2 TLR4 TLR5 TLR6 TLR7
14
Show member pathways
12.32 CCL2 CXCL1 CXCL2 TLR2 TLR5
15
Show member pathways
12.32 CCL2 CXCL1 CXCL2 TLR1 TLR10 TLR2
16 12.24 TLR1 TLR10 TLR2 TLR3 TLR4 TLR5
17 12.23 TLR1 TLR2 TLR4 TLR6 TLR9
18
Show member pathways
12.23 TLR1 TLR10 TLR2 TLR3 TLR4 TLR5
19
Show member pathways
12.03 TLR1 TLR2 TLR4 TLR6
20 12.02 TLR2 TLR4 TLR6
21 12 CCL2 CXCL1 CXCL2 TLR4
22
Show member pathways
11.95 TLR1 TLR10 TLR2 TLR3 TLR4 TLR5
23
Show member pathways
11.9 CCL2 CXCL1 CXCL2
24 11.87 CCL2 CXCL1 CXCL2
25 11.87 CCL2 CXCL1 TLR2 TLR4
26 11.83 CXCL1 CXCL2 TLR4 TLR5
27 11.81 CXCL1 TLR2 TLR4
28 11.7 CXCL1 CXCL2 TLR2 TLR4 TLR5
29 11.58 TLR1 TLR10 TLR2 TLR3 TLR4 TLR5
30 11.57 CCL2 TLR2 TLR4 TLR9
31 11.51 CCL2 CXCL1 CXCL2
32 11.49 CCL2 TLR2 TLR4
33
Show member pathways
11.44 TLR1 TLR10 TLR2 TLR3 TLR4 TLR5
34 11.19 CCL2 TLR1 TLR2
35 11.05 TLR3 TLR4

GO Terms for Retinitis Pigmentosa 73

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

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.93 TLR1 TLR10 TLR2 TLR3 TLR4 TLR6
2 cytoplasmic vesicle GO:0031410 9.83 TLR1 TLR2 TLR6 TLR7 TLR9
3 phagocytic vesicle membrane GO:0030670 9.54 TLR1 TLR2 TLR6
4 early phagosome GO:0032009 9.4 TLR7 TLR9
5 endosome membrane GO:0010008 9.35 TLR3 TLR4 TLR7 TLR8 TLR9
6 Toll-like receptor 1-Toll-like receptor 2 protein complex GO:0035354 9.16 TLR1 TLR2
7 endolysosome membrane GO:0036020 8.92 TLR3 TLR7 TLR8 TLR9
8 plasma membrane GO:0005886 10.06 F3 HGSNAT TLR1 TLR10 TLR2 TLR4
9 integral component of membrane GO:0016021 10.03 F3 HGSNAT TLR1 TLR10 TLR2 TLR3

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

(show top 50) (show all 76)
# Name GO ID Score Top Affiliating Genes
1 defense response GO:0006952 9.99 CXCL1 CXCL2 TLR1 TLR3
2 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.99 TLR2 TLR3 TLR4 TLR7 TLR9
3 positive regulation of interleukin-6 production GO:0032755 9.99 TLR2 TLR3 TLR4 TLR7 TLR8 TLR9
4 cellular response to interferon-gamma GO:0071346 9.96 CCL2 TLR2 TLR3 TLR4
5 positive regulation of chemokine production GO:0032722 9.95 TLR2 TLR3 TLR4 TLR7 TLR9
6 chemotaxis GO:0006935 9.93 CCL2 CXCL1 CXCL2
7 positive regulation of tumor necrosis factor production GO:0032760 9.93 TLR2 TLR3 TLR4 TLR9
8 positive regulation of interferon-beta production GO:0032728 9.92 TLR2 TLR3 TLR4 TLR9
9 positive regulation of interleukin-12 production GO:0032735 9.92 TLR2 TLR3 TLR4 TLR9
10 neutrophil chemotaxis GO:0030593 9.91 CCL2 CXCL1 CXCL2
11 positive regulation of JNK cascade GO:0046330 9.9 TLR3 TLR4 TLR9
12 chemokine-mediated signaling pathway GO:0070098 9.9 CCL2 CXCL1 CXCL2
13 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.9 CCL2 TLR2 TLR4 TLR9
14 microglial cell activation GO:0001774 9.89 TLR2 TLR3 TLR6 TLR7 TLR8
15 positive regulation of nitric oxide biosynthetic process GO:0045429 9.88 TLR4 TLR5 TLR6
16 positive regulation of interferon-gamma biosynthetic process GO:0045078 9.88 TLR3 TLR7 TLR8 TLR9
17 positive regulation of interleukin-8 biosynthetic process GO:0045416 9.88 TLR4 TLR7 TLR8 TLR9
18 lipopolysaccharide-mediated signaling pathway GO:0031663 9.86 CCL2 TLR2 TLR4
19 I-kappaB phosphorylation GO:0007252 9.85 TLR2 TLR3 TLR4 TLR7 TLR9
20 positive regulation of interleukin-8 production GO:0032757 9.85 TLR2 TLR3 TLR4 TLR5 TLR7 TLR9
21 positive regulation of interleukin-10 production GO:0032733 9.84 TLR2 TLR4 TLR9
22 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.84 TLR3 TLR4 TLR6
23 positive regulation of interferon-alpha biosynthetic process GO:0045356 9.84 TLR3 TLR7 TLR8 TLR9
24 toll-like receptor 9 signaling pathway GO:0034162 9.83 TLR7 TLR8 TLR9
25 positive regulation of toll-like receptor signaling pathway GO:0034123 9.83 TLR2 TLR3 TLR5 TLR9
26 cell activation GO:0001775 9.82 TLR1 TLR2 TLR6
27 response to molecule of bacterial origin GO:0002237 9.82 CXCL2 TLR2 TLR9
28 MyD88-dependent toll-like receptor signaling pathway GO:0002755 9.81 TLR1 TLR10 TLR2 TLR4 TLR5 TLR6
29 positive regulation of interferon-beta biosynthetic process GO:0045359 9.8 TLR3 TLR4 TLR7 TLR8 TLR9
30 leukocyte chemotaxis GO:0030595 9.75 CXCL1 CXCL2
31 negative regulation of osteoclast differentiation GO:0045671 9.75 TLR3 TLR4
32 necroptotic process GO:0070266 9.75 TLR3 TLR4
33 activation of NF-kappaB-inducing kinase activity GO:0007250 9.75 TLR3 TLR6
34 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.74 TLR4 TLR6
35 positive regulation of macrophage activation GO:0043032 9.74 TLR4 TLR6
36 positive regulation of interleukin-8 secretion GO:2000484 9.74 TLR1 TLR2
37 positive regulation of reactive oxygen species biosynthetic process GO:1903428 9.74 TLR4 TLR6
38 macrophage activation GO:0042116 9.74 TLR1 TLR4
39 MyD88-independent toll-like receptor signaling pathway GO:0002756 9.74 TLR3 TLR4
40 positive regulation of tumor necrosis factor biosynthetic process GO:0042535 9.73 TLR1 TLR4
41 cellular response to lipoteichoic acid GO:0071223 9.73 TLR2 TLR4
42 cellular response to oxidised low-density lipoprotein particle stimulus GO:0140052 9.73 TLR4 TLR6
43 interleukin-1 beta secretion GO:0050702 9.73 TLR4 TLR6
44 negative regulation of MyD88-independent toll-like receptor signaling pathway GO:0034128 9.72 TLR3 TLR4
45 positive regulation of interleukin-6 biosynthetic process GO:0045410 9.72 TLR1 TLR6
46 positive regulation of NLRP3 inflammasome complex assembly GO:1900227 9.72 TLR4 TLR6
47 positive regulation of interleukin-18 production GO:0032741 9.72 TLR2 TLR9
48 tumor necrosis factor production GO:0032640 9.71 TLR2 TLR9
49 cellular response to diacyl bacterial lipopeptide GO:0071726 9.71 TLR2 TLR6
50 toll-like receptor TLR6:TLR2 signaling pathway GO:0038124 9.7 TLR2 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 9.93 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 9.48 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
Content
Loading form....