ONTOLOGY REPORT - ANNOTATIONS
Term: Graves Disease
Accession: RDO:0005703
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Definition: A common form of hyperthyroidism with a diffuse hyperplastic GOITER. It is an autoimmune disorder that produces antibodies against the THYROID STIMULATING HORMONE RECEPTOR. These autoantibodies activate the TSH receptor, thereby stimulating the THYROID GLAND and hypersecretion of THYROID HORMONES. These autoantibodies can also affect the eyes (GRAVES OPHTHALMOPATHY) and the skin (Graves dermopathy).
Synonyms: exact_synonym: Basedow Disease; Basedow's Disease; Basedows Disease; Exophthalmic Goiter; Exophthalmic Goiters; GRAVES DISEASE, SUSCEPTIBILITY TO, 2; GRD; GRD1; GRD2; HYPERTHYROIDISM, AUTOIMMUNE GRAVES DISEASE, SUSCEPTIBILITY TO, 1; Hyperthyroidism, Autoimmune; THYROTOXICOSIS
primary_id: MESH:D006111
alt_id: OMIM:139200 ; OMIM:275000 ; OMIM:603372 ; OMIM:603388
Graves Disease
G
Adipoq
adiponectin, C1Q and collagen domain containing
ISS
11
79,908,291
79,911,065
RGD:5686857
RGD
G
Adipoq
adiponectin, C1Q and collagen domain containing
Severity
ISS
11
79,908,291
79,911,065
RGD:5686818
RGD
G
C4a
complement component 4A (Rodgers blood group)
ISS
20
4,106,123
4,145,904
RGD:5688264
RGD
G
C4b
complement component 4B (Chido blood group)
ISS
20
4,300,687
4,315,882
RGD:5688264
RGD
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
No_Association
ISS
9
59,495,773
59,501,300
RGD:2302000
RGD
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISS
9
59,495,773
59,501,300
RGD:2302001
RGD
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISS
9
59,495,773
59,501,300
RGD:1300388
RGD
G
Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISS
8
61,462,207
61,468,237
RGD:5147671
RGD
G
Fkbp1b
FK506 binding protein 1b
ISS
RGD:1580387
RGD
G
Gc
group specific component
Susceptibility
ISS
14
20,166,243
20,197,060
RGD:5509883
RGD
G
Gc
group specific component
Susceptibility
ISS
14
20,166,243
20,197,060
RGD:5509886
RGD
G
Gc
group specific component
ISS
14
20,166,243
20,197,060
RGD:7240710
OMIM
G
Igf1r
insulin-like growth factor 1 receptor
ISS
1
122,704,976
122,990,007
RGD:5686433
RGD
G
Il3
interleukin 3
ISS
10
39,684,691
39,687,041
RGD:5686901
RGD
G
Ptpn22
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
ISS
2
199,083,186
199,144,309
RGD:6484538
RGD
G
Stat4
signal transducer and activator of transcription 4
ISS
9
46,510,251
46,650,076
RGD:7207875
RGD
G
Tshr
thyroid stimulating hormone receptor
ISS
6
115,024,999
115,162,531
RGD:7240710
OMIM
G
Vdr
vitamin D (1,25- dihydroxyvitamin D3) receptor
IEA
7
136,567,614
136,617,280
RGD:1331525
RGD
Graves Ophthalmopathy
G
Il3
interleukin 3
ISS
10
39,684,691
39,687,041
RGD:5686901
RGD
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1
G
Cacna1s
calcium channel, voltage-dependent, L type, alpha 1S subunit
ISS
RGD:7240710
OMIM
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