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ONTOLOGY REPORT - ANNOTATIONS


Term:Familial Amyloidosis
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Accession:DOID:9004492 term browser browse the term
Definition:Diseases in which there is a familial pattern of AMYLOIDOSIS.
Synonyms:exact_synonym: Amyloidosis - hereditaries;   Amyloidosis hereditary;   Familial Amyloidoses;   Hereditary Amyloidoses
 primary_id: MESH:D028226
 alt_id: RDO:0000616
For additional species annotation, visit the Alliance of Genome Resources.


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Familial Amyloidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoa1 apolipoprotein A1 JBrowse link 8 50,525,091 50,526,875 RGD:7241855
G Cst3 cystatin C JBrowse link 3 143,219,671 143,223,544 RGD:2314354
G Fga fibrinogen alpha chain JBrowse link 2 181,997,562 182,013,726 RGD:1601166
RGD:11554173
G Gsn gelsolin JBrowse link 3 14,456,106 14,508,922 RGD:1599858
G Lyz2 lysozyme 2 JBrowse link 7 60,335,968 60,341,264 RGD:1599842
RGD:1599840
G Ret ret proto-oncogene JBrowse link 4 150,202,170 150,249,196 RGD:11554173
G Ttr transthyretin JBrowse link 18 15,532,963 15,542,180 RGD:1580526
RGD:11554173
RGD:1331525
APP-related cerebral amyloid angiopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G App amyloid beta precursor protein JBrowse link 11 24,425,013 24,641,872 RGD:11554173
RGD:8554872
RGD:7240710
CST3-related cerebral amyloid angiopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G App amyloid beta precursor protein JBrowse link 11 24,425,013 24,641,872 RGD:8554872
G Cst3 cystatin C JBrowse link 3 143,219,671 143,223,544 RGD:7240710
RGD:8554872
RGD:11554173
Familial Amyloid Polyneuropathies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoa1 apolipoprotein A1 JBrowse link 8 50,525,091 50,526,875 RGD:8554872
G F10 coagulation factor X JBrowse link 16 81,803,169 81,822,476 RGD:11041730
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:11041730
G Ttr transthyretin JBrowse link 18 15,532,963 15,542,180 RGD:1331525
RGD:11554173
familial visceral amyloidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoa1 apolipoprotein A1 JBrowse link 8 50,525,091 50,526,875 RGD:7240710
RGD:8554872
G B2m beta-2 microglobulin JBrowse link 3 114,087,287 114,093,311 RGD:8554872
RGD:7240710
G Fga fibrinogen alpha chain JBrowse link 2 181,997,562 182,013,726 RGD:7240710
RGD:8554872
G Lyz2 lysozyme 2 JBrowse link 7 60,335,968 60,341,264 RGD:7240710
RGD:8554872
Finnish type amyloidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gsn gelsolin JBrowse link 3 14,456,106 14,508,922 RGD:7240710
RGD:8554872
gelatinous drop-like corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clu clusterin JBrowse link 15 42,626,612 42,665,858 RGD:8699502
G Tacstd2 tumor-associated calcium signal transducer 2 JBrowse link 4 98,341,187 98,342,887 RGD:7240710
RGD:8554872
ITM2B-related cerebral amyloid angiopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itm2b integral membrane protein 2B JBrowse link 15 55,254,703 55,277,713 RGD:1358403
RGD:8554872
RGD:7240710
lattice corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor, beta induced JBrowse link 17 8,400,123 8,429,338 RGD:13592920
Lattice Corneal Dystrophy Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor, beta induced JBrowse link 17 8,400,123 8,429,338 RGD:7240710
RGD:8554872
Lattice Corneal Dystrophy, Type IIIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor, beta induced JBrowse link 17 8,400,123 8,429,338 RGD:7240710
RGD:8554872
primary cutaneous amyloidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:7771598
G Il31ra interleukin 31 receptor A JBrowse link 2 44,333,347 44,408,005 RGD:11554173
G Osmr oncostatin M receptor JBrowse link 2 56,107,491 56,163,522 RGD:11554173
Primary Localized Cutaneous Amyloidosis, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Osmr oncostatin M receptor JBrowse link 2 56,107,491 56,163,522 RGD:7240710
RGD:8554872
Primary Localized Cutaneous Amyloidosis, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il31ra interleukin 31 receptor A JBrowse link 2 44,333,347 44,408,005 RGD:7240710
RGD:8554872
Primary Localized Cutaneous Amyloidosis, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpnmb glycoprotein nmb JBrowse link 4 78,694,447 78,715,685 RGD:8554872
RGD:7240710
Reticulate Pigmentary Disorder, with Systemic Manifestations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pola1 DNA polymerase alpha 1, catalytic subunit JBrowse link X 62,382,604 62,698,830 RGD:8554872
RGD:7240710
transthyretin amyloidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttr transthyretin JBrowse link 18 15,532,963 15,542,180 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    Nutritional and Metabolic Diseases 4376
      disease of metabolism 4376
        inherited metabolic disorder 1864
          Familial Amyloidosis 20
            APP-related cerebral amyloid angiopathy 1
            Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 0
            CST3-related cerebral amyloid angiopathy + 3
            Cutaneous Bullous Amyloidosis 0
            Familial Amyloid Polyneuropathies + 8
            Reticulate Pigmentary Disorder, with Systemic Manifestations 1
            familial visceral amyloidosis 4
            primary cutaneous amyloidosis + 4
Path 2
Term Annotations click to browse term
  disease 15626
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          inherited metabolic disorder 1864
            Familial Amyloidosis 20
              APP-related cerebral amyloid angiopathy 1
              Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 0
              CST3-related cerebral amyloid angiopathy + 3
              Cutaneous Bullous Amyloidosis 0
              Familial Amyloid Polyneuropathies + 8
              Reticulate Pigmentary Disorder, with Systemic Manifestations 1
              familial visceral amyloidosis 4
              primary cutaneous amyloidosis + 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.