RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: tympanosclerosis
Accession: DOID:1214
browse the term
Definition: The formation of dense connective tissue in the TYMPANIC MEMBRANE that does not necessarily cause or lead to loss of hearing.
Synonyms: exact_synonym: intratympanic tympanosclerosis; myringoscleroses; myringosclerosis; tympanic calcification; tympanoscleroses
primary_id: MESH:D000092163
alt_id: MESH:D063371
xref: EFO:1001812 ; ICD9CM:385.09
For additional species annotation, visit the
Alliance of Genome Resources .
Please select species to view GViewer data.
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Cat
catalase
ISO
protein:increased activity:erythrocyte:
RGD
PMID:14710000
RGD:9479056
NCBI chrNW_004624767:12,680,940...12,715,468
Ensembl chrNW_004624767:12,680,953...12,715,739
G
G
CAT
catalase
ISO
protein:increased activity:erythrocyte:
RGD
PMID:14710000
RGD:9479056
NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592
G
P
CAT
catalase
ISO
protein:increased activity:erythrocyte:
RGD
PMID:14710000
RGD:9479056
NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
G
S
Cat
catalase
ISO
protein:increased activity:erythrocyte:
RGD
PMID:14710000
RGD:9479056
NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422
G
D
CAT
catalase
ISO
protein:increased activity:erythrocyte:
RGD
PMID:14710000
RGD:9479056
NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
G
B
CAT
catalase
ISO
protein:increased activity:erythrocyte:
RGD
PMID:14710000
RGD:9479056
NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
G
C
Cat
catalase
ISO
protein:increased activity:erythrocyte:
RGD
PMID:14710000
RGD:9479056
NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464
G
R
Cat
catalase
ISO
protein:increased activity:erythrocyte:
RGD
PMID:14710000
RGD:9479056
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
G
M
Cat
catalase
ISO
protein:increased activity:erythrocyte:
RGD
PMID:14710000
RGD:9479056
NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
G
H
CAT
catalase
IEP
protein:increased activity:erythrocyte:
RGD
PMID:14710000
RGD:9479056
NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
G
N
Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
MouseDO
NCBI chrNW_004624753:5,918,005...5,983,480
Ensembl chrNW_004624753:5,917,689...5,982,308
G
G
ENPP1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
MouseDO
NCBI chr13:41,670,416...41,755,549
G
P
ENPP1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
MouseDO
NCBI chr 1:31,724,290...31,796,594
Ensembl chr 1:31,722,721...31,796,595
G
S
Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
MouseDO
NCBI chrNW_004937067:194,375...246,607
G
D
ENPP1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
MouseDO
NCBI chr 1:251,985...322,081
Ensembl chr 1:252,103...322,718
G
B
ENPP1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
MouseDO
NCBI chr 6:129,591,858...129,673,000
Ensembl chr 6:133,698,640...133,783,644
G
C
Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
MouseDO
NCBI chrNW_004955436:12,416,147...12,477,214
Ensembl chrNW_004955436:12,415,737...12,480,359
G
R
Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISS
MouseDO
NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:20,698,764...20,763,715
G
M
Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
IAGP
MouseDO
NCBI chr10:24,513,812...24,588,057
Ensembl chr10:24,513,812...24,588,057
G
H
ENPP1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISS
MouseDO
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
G
N
Tlr4
toll like receptor 4
ISO
DNA:polymorphism:exon:D299G(human)
RGD
PMID:19398177
RGD:7800656
NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120
G
G
TLR4
toll like receptor 4
ISO
DNA:polymorphism:exon:D299G(human)
RGD
PMID:19398177
RGD:7800656
NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515
G
P
TLR4
toll like receptor 4
ISO
DNA:polymorphism:exon:D299G(human)
RGD
PMID:19398177
RGD:7800656
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
G
S
Tlr4
toll like receptor 4
ISO
DNA:polymorphism:exon:D299G(human)
RGD
PMID:19398177
RGD:7800656
NCBI chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095
G
D
TLR4
toll like receptor 4
ISO
DNA:polymorphism:exon:D299G(human)
RGD
PMID:19398177
RGD:7800656
NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
G
B
TLR4
toll like receptor 4
ISO
DNA:polymorphism:exon:D299G(human)
RGD
PMID:19398177
RGD:7800656
NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
G
C
Tlr4
toll like receptor 4
ISO
DNA:polymorphism:exon:D299G(human)
RGD
PMID:19398177
RGD:7800656
NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
G
R
Tlr4
toll-like receptor 4
ISO
DNA:polymorphism:exon:D299G(human)
RGD
PMID:19398177
RGD:7800656
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
G
M
Tlr4
toll-like receptor 4
ISO
DNA:polymorphism:exon:D299G(human)
RGD
PMID:19398177
RGD:7800656
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
G
H
TLR4
toll like receptor 4
IAGP
DNA:polymorphism:exon:D299G(human)
RGD
PMID:19398177
RGD:7800656
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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