Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Familial Amyloidosis
go back to main search page
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
 xref: NCI:C84555
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Familial Amyloidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO RGD PMID:22495291 RGD:7241855 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Cst3 cystatin C ISO protein:missense mutation:cds:p.L68Q (human) RGD PMID:3517880 RGD:2314354 NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
JBrowse link
G Fga fibrinogen alpha chain ISO renal amyloidosis,OMIM:105200;DNA:point mutation:exon:p.R554L (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:8097946 PMID:8639778, PMID:8097946 RGD:1601166 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
JBrowse link
G Gsn gelsolin ISO DNA:point mutation: ;654G>A RGD PMID:2175344 RGD:1599858 NCBI chr 3:14,456,106...14,508,922
Ensembl chr 3:14,467,330...14,508,911
JBrowse link
G Lyz2 lysozyme 2 ISO RGD PMID:12675840, PMID:8464497 RGD:1599842, RGD:1599840 NCBI chr 7:60,335,968...60,341,264
Ensembl chr 7:60,335,969...60,341,264
JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:12864791 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Hereditary amyloidosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17701470 PMID:18326041 PMID:32393063, PMID:15995833, PMID:15118671 RGD:1580526, RGD:1331525 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
JBrowse link
APP-related cerebral amyloid angiopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral amyloid angiopathy, APP-related
ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT
CTD
ClinVar
OMIM
PMID:1303239 PMID:1679289 PMID:2111584 PMID:9754958 PMID:9848098 PMID:10821838 PMID:11311152 PMID:11409420 PMID:11441013 PMID:11528419 PMID:12654973 PMID:15502844 PMID:16178030 PMID:18413473 PMID:19225789 PMID:20228223 PMID:20697050 PMID:24878480 PMID:25741868 PMID:26104569 PMID:26402770 PMID:27000221 PMID:27858710 PMID:28350801 PMID:28492532 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
CST3-related cerebral amyloid angiopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO ClinVar Annotator: match by term: Hereditary cerebral hemorrhage with amyloidosis ClinVar PMID:25741868 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Cst3 cystatin C ISO ClinVar Annotator: match by term: Hereditary cerebral amyloid angiopathy, Icelandic type
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2363674 PMID:2567273 PMID:2900981 PMID:8108423 PMID:18566660 PMID:25741868 NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
JBrowse link
Familial Amyloid Polyneuropathies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy type III ClinVar PMID:2123470 PMID:3142462 PMID:4304452 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G F10 coagulation factor X ISO protein:decreased expression:plasma: RGD PMID:22624582 RGD:11041730 NCBI chr16:81,803,169...81,822,476
Ensembl chr16:81,803,110...81,822,716
JBrowse link
G F2 coagulation factor II ISO protein:increased expression:plasma: RGD PMID:22624582 RGD:11041730 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:11499719 PMID:12974739 PMID:15519027 PMID:17560888 PMID:22464770 PMID:22763267 PMID:22995991 PMID:23217326 PMID:23233322 PMID:23820649 PMID:24033266 PMID:24055113 PMID:25637381 PMID:25741868 PMID:26090888 PMID:26332594 PMID:28492532 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:23159249 PMID:25326635 PMID:25356970 PMID:25522177 PMID:25741868 PMID:25741881 PMID:26795593 PMID:26842493 PMID:26944241 PMID:27681385 PMID:28111752 PMID:28135719 PMID:28471432 PMID:28492532 PMID:28554332 PMID:28628100 PMID:29550517 PMID:30113927 PMID:30588754 PMID:30690871 PMID:32963807 NCBI chr 1:220,515,117...220,645,611
Ensembl chr 1:220,516,316...220,644,636
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:25351510 PMID:25741868 PMID:28492532 PMID:28600387 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:11815426 PMID:12860912 PMID:15524171 PMID:15607392 PMID:18175163 PMID:21310275 PMID:23967088 PMID:24033266 PMID:24510615 PMID:25324519 PMID:25741868 PMID:25940119 PMID:28492532 NCBI chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1351039 PMID:1355416 PMID:1356051 PMID:1358785 PMID:1729893 PMID:1850190 PMID:1877623 PMID:1979335 PMID:1997217 PMID:2002274 PMID:2063870 PMID:2174830 PMID:2237288 PMID:2320592 PMID:2349941 PMID:2590199 PMID:2646319 PMID:3030336 PMID:3229002 PMID:3627183 PMID:3934968 PMID:6736244 PMID:7868124 PMID:7906282 PMID:7923855 PMID:8095073 PMID:8102146 PMID:8275943 PMID:8345041 PMID:8428916 PMID:8698351 PMID:8784093 PMID:9017939 PMID:9090525 PMID:9268242 PMID:9395311 PMID:9428731 PMID:10529370 PMID:10762172 PMID:10772944 PMID:10842715 PMID:11243784 PMID:11385707 PMID:11577236 PMID:11752419 PMID:11752443 PMID:12050338 PMID:12217248 PMID:12440486 PMID:12588803 PMID:12707074 PMID:12874413 PMID:12874414 PMID:14569203 PMID:14640030 PMID:15123043 PMID:15185492 PMID:15299606 PMID:15469931 PMID:15735344 PMID:15820680 PMID:16011990 PMID:16362527 PMID:16432141 PMID:16631014 PMID:16631015 PMID:16911959 PMID:17251346 PMID:17431395 PMID:17503405 PMID:18276611 PMID:18295603 PMID:18318779 PMID:18830126 PMID:18984591 PMID:19428025 PMID:19781421 PMID:20030258 PMID:20301373 PMID:20435197 PMID:20840742 PMID:21557933 PMID:21600538 PMID:22083004 PMID:22184092 PMID:22332999 PMID:22449240 PMID:22745357 PMID:22877808 PMID:22995991 PMID:23414091 PMID:23580146 PMID:23713495 PMID:23716704 PMID:24033266 PMID:24073013 PMID:24101373 PMID:24111657 PMID:24131106 PMID:24184229 PMID:24356794 PMID:24474780 PMID:24517438 PMID:24633258 PMID:24818650 PMID:24945718 PMID:24955979 PMID:25225131 PMID:25311081 PMID:25395306 PMID:25551524 PMID:25741868 PMID:25743335 PMID:25819286 PMID:25846356 PMID:26123279 PMID:26286619 PMID:26428663 PMID:26467025 PMID:26537620 PMID:27188913 PMID:27249223 PMID:27386769 PMID:27501389 PMID:27532257 PMID:27562180 PMID:27838833 PMID:27885756 PMID:28166811 PMID:28492532 PMID:29121657 PMID:30328212 PMID:30953182 PMID:31135624 PMID:31728576 PMID:31740141 PMID:31821430, PMID:15118671 RGD:1331525 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
JBrowse link
familial visceral amyloidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Amyloidosis 8
ClinVar Annotator: match by term: Ostertag type amyloidosis
ClinVar Annotator: match by OMIM:105200
ClinVar Annotator: match by term: Amyloidosis, cardiac and cutaneous
OMIM
ClinVar
PMID:1502149 PMID:1901417 PMID:4304452 PMID:8675681 PMID:9916936 PMID:10198255 PMID:10487826 PMID:12050338 PMID:17303779 PMID:20884842 PMID:21820994 PMID:23209431 PMID:23770607 PMID:23806608 PMID:24081495 PMID:25034063 PMID:26530418 PMID:26562506 PMID:27135400 PMID:27785680 PMID:28492532 PMID:29353225 PMID:30184436 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by synonym: Ostertag type amyloidosis ClinVar
OMIM
PMID:22693999 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Fga fibrinogen alpha chain ISO ClinVar Annotator: match by term: Amyloidosis 8
ClinVar Annotator: match by term: Ostertag type amyloidosis
ClinVar Annotator: match by term: AFib amyloidosis
ClinVar Annotator: match by OMIM:105200
OMIM
ClinVar
PMID:8097946 PMID:8113408 PMID:8639778 PMID:8944230 PMID:9389696 PMID:10910940 PMID:12050338 PMID:12871326 PMID:16362348 PMID:19109585 PMID:19420351 PMID:25741868 PMID:28492532 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
JBrowse link
G Lyz2 lysozyme 2 ISO ClinVar Annotator: match by term: Amyloidosis 8
ClinVar Annotator: match by OMIM:105200
OMIM
ClinVar
PMID:1808634 PMID:8464497 PMID:8566845 PMID:10534505 PMID:11849445 PMID:12360495 PMID:12675840 PMID:15745733 PMID:16523055 PMID:25741868 NCBI chr 7:60,335,968...60,341,264
Ensembl chr 7:60,335,969...60,341,264
JBrowse link
Finnish type amyloidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsn gelsolin ISO ClinVar Annotator: match by term: Meretoja syndrome
ClinVar Annotator: match by OMIM:105120
OMIM
ClinVar
PMID:1311149 PMID:1315718 PMID:1322359 PMID:1322360 PMID:1652889 PMID:1658654 PMID:1848334 PMID:2153578 PMID:2175344 PMID:2176481 PMID:2176550 PMID:4543600 PMID:6610849 PMID:6975851 PMID:7550233 PMID:7868127 PMID:8388189 PMID:11754099 PMID:25741868 PMID:28492532 NCBI chr 3:14,456,106...14,508,922
Ensembl chr 3:14,467,330...14,508,911
JBrowse link
gelatinous drop-like corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clu clusterin ISO RGD PMID:10502582 RGD:8699502 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Tacstd2 tumor-associated calcium signal transducer 2 ISO ClinVar Annotator: match by term: Lattice corneal dystrophy Type III
ClinVar Annotator: match by OMIM:204870
OMIM
ClinVar
PMID:10192395 PMID:12107443 PMID:15652848 PMID:28492532 NCBI chr 4:98,341,187...98,342,887
Ensembl chr 4:98,341,188...98,342,887
JBrowse link
ITM2B-related cerebral amyloid angiopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by OMIM:176500 ClinVar
OMIM
PMID:10391242 PMID:21610757, PMID:11159188 RGD:1358403 NCBI chr15:55,254,703...55,277,713
Ensembl chr15:55,254,706...55,277,713
JBrowse link
lattice corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISS OMIM:122200 MouseDO NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
JBrowse link
Lattice Corneal Dystrophy Type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by OMIM:122200 OMIM
ClinVar
PMID:9054935 PMID:9559741 NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
JBrowse link
Lattice Corneal Dystrophy, Type IIIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by term: Lattice corneal dystrophy type 3A OMIM
ClinVar
PMID:9497262 PMID:11004271 PMID:11024425 PMID:11923233 PMID:12400061 PMID:15790870 PMID:16809844 PMID:19337156 PMID:21462384 PMID:23884333 PMID:25741868 PMID:26748743 NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
JBrowse link
primary cutaneous amyloidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO protein:increased expression:skin: RGD PMID:9740234 RGD:7771598 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Il31ra interleukin 31 receptor A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:44,333,347...44,408,005
Ensembl chr 2:44,336,006...44,394,709
JBrowse link
G Osmr oncostatin M receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:56,107,491...56,163,522
Ensembl chr 2:56,110,777...56,151,531
JBrowse link
Primary Localized Cutaneous Amyloidosis, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Osmr oncostatin M receptor ISO ClinVar Annotator: match by term: Primary localized cutaneous amyloidosis 1 OMIM
ClinVar
PMID:18179886 PMID:19690585 PMID:25741868 NCBI chr 2:56,107,491...56,163,522
Ensembl chr 2:56,110,777...56,151,531
JBrowse link
Primary Localized Cutaneous Amyloidosis, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il31ra interleukin 31 receptor A ISO ClinVar Annotator: match by term: Amyloidosis, primary localized cutaneous, 2
ClinVar Annotator: match by OMIM:613955
OMIM
ClinVar
PMID:19690585 PMID:25741868 NCBI chr 2:44,333,347...44,408,005
Ensembl chr 2:44,336,006...44,394,709
JBrowse link
Primary Localized Cutaneous Amyloidosis, 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpnmb glycoprotein nmb ISO ClinVar Annotator: match by term: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3 ClinVar
OMIM
PMID:19416385 PMID:25741868 PMID:25866143 PMID:29336782 NCBI chr 4:78,694,447...78,715,685
Ensembl chr 4:78,694,447...78,715,683
JBrowse link
transthyretin amyloidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsc1 desmocollin 1 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:11,877,918...11,906,828
Ensembl chr18:11,877,561...11,906,827
JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:11,826,705...11,858,801
Ensembl chr18:11,826,706...11,858,754
JBrowse link
G Dsg1 desmoglein 1 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:12,008,301...12,040,337
Ensembl chr18:12,008,759...12,038,053
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:15,579,322...15,637,720
Ensembl chr18:15,579,315...15,637,715
JBrowse link
G Dsg3 desmoglein 3 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:15,652,948...15,688,605
Ensembl chr18:15,650,526...15,688,284
JBrowse link
G Dsg4 desmoglein 4 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:12,056,113...12,092,858
Ensembl chr18:12,056,113...12,092,858
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:11499719 PMID:12974739 PMID:15519027 PMID:17560888 PMID:22464770 PMID:22763267 PMID:22995991 PMID:23217326 PMID:23233322 PMID:23820649 PMID:24033266 PMID:24055113 PMID:25637381 PMID:25741868 PMID:26090888 PMID:26332594 PMID:28492532 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:24033266 PMID:24510615 PMID:25741868 PMID:28492532 NCBI chr 8:119,030,852...119,036,996
Ensembl chr 8:119,030,875...119,036,996
JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:23159249 PMID:25326635 PMID:25356970 PMID:25522177 PMID:25741868 PMID:25741881 PMID:26795593 PMID:26842493 PMID:26944241 PMID:27681385 PMID:28111752 PMID:28135719 PMID:28471432 PMID:28492532 PMID:28554332 PMID:28628100 PMID:29550517 PMID:30113927 PMID:30588754 PMID:30690871 PMID:32963807 NCBI chr 1:220,515,117...220,645,611
Ensembl chr 1:220,516,316...220,644,636
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:25351510 PMID:25741868 PMID:28492532 PMID:28600387 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:11815426 PMID:12860912 PMID:15524171 PMID:15607392 PMID:18175163 PMID:21310275 PMID:23967088 PMID:24033266 PMID:24510615 PMID:25324519 PMID:25741868 PMID:25940119 PMID:28492532 NCBI chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis
ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis
ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis
ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis
ClinVar Annotator: match by term: Transthyretin amyloidosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
ClinVar Annotator: match by OMIM:105210
ClinVar Annotator: match by term: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
OMIM
ClinVar
CTD
PMID:192115 PMID:1301926 PMID:1330202 PMID:1335038 PMID:1350083 PMID:1351039 PMID:1353008 PMID:1353861 PMID:1355416 PMID:1356051 PMID:1358785 PMID:1362222 PMID:1436517 PMID:1490495 PMID:1520326 PMID:1520336 PMID:1544214 PMID:1547960 PMID:1570831 PMID:1618497 PMID:1626556 PMID:1626570 PMID:1644201 PMID:1656975 PMID:1664269 PMID:1729888 PMID:1729893 PMID:1734866 PMID:1786038 PMID:1850190 PMID:1850191 PMID:1867256 PMID:1877623 PMID:1932142 PMID:1977686 PMID:1979335 PMID:1981182 PMID:1992765 PMID:1997217 PMID:2002274 PMID:2046936 PMID:2063870 PMID:2122246 PMID:2161654 PMID:2174830 PMID:2237288 PMID:2320592 PMID:2349941 PMID:2360796 PMID:2363717 PMID:2510740 PMID:2564060 PMID:2590199 PMID:2613237 PMID:2624269 PMID:2646319 PMID:2714785 PMID:2840822 PMID:2856994 PMID:2857043 PMID:2877582 PMID:2891727 PMID:2896079 PMID:2981253 PMID:3011930 PMID:3022107 PMID:3022108 PMID:3022697 PMID:3030336 PMID:3097057 PMID:3178532 PMID:3229002 PMID:3457802 PMID:3479441 PMID:3627183 PMID:3676699 PMID:3722385 PMID:3760189 PMID:3908483 PMID:3934968 PMID:4079954 PMID:4138132 PMID:4354899 PMID:4884226 PMID:4952599 PMID:5507249 PMID:5652991 PMID:5799493 PMID:6087811 PMID:6099706 PMID:6100724 PMID:6168726 PMID:6208668 PMID:6300852 PMID:6310716 PMID:6311926 PMID:6487335 PMID:6549130 PMID:6583672 PMID:6651852 PMID:6736244 PMID:6782125 PMID:7018469 PMID:7389759 PMID:7417777 PMID:7599630 PMID:7608709 PMID:7643356 PMID:7655883 PMID:7656439 PMID:7839813 PMID:7868124 PMID:7906282 PMID:7910950 PMID:7914929 PMID:7923855 PMID:7951260 PMID:8038017 PMID:8064809 PMID:8081397 PMID:8095073 PMID:8095301 PMID:8095302 PMID:8100581 PMID:8102146 PMID:8133316 PMID:8194279 PMID:8218290 PMID:8257997 PMID:8275943 PMID:8345041 PMID:8352764 PMID:8406434 PMID:8428916 PMID:8509786 PMID:8563114 PMID:8579098 PMID:8692810 PMID:8698351 PMID:8721565 PMID:8778271 PMID:8784093 PMID:8857732 PMID:8960746 PMID:8990019 PMID:9017939 PMID:9017946 PMID:9066351 PMID:9090525 PMID:9196903 PMID:9215058 PMID:9268242 PMID:9395311 PMID:9428731 PMID:9475090 PMID:9536098 PMID:9547003 PMID:9605286 PMID:9701270 PMID:9717013 PMID:9748014 PMID:9748569 PMID:9771673 PMID:9798666 PMID:9818054 PMID:9818883 PMID:9843084 PMID:10036587 PMID:10071047 PMID:10439117 PMID:10453736 PMID:10465115 PMID:10488818 PMID:10506096 PMID:10529370 PMID:10611949 PMID:10611950 PMID:10627135 PMID:10762172 PMID:10772944 PMID:10842705 PMID:10842715 PMID:10842718 PMID:10845569 PMID:10923048 PMID:11243784 PMID:11261421 PMID:11385707 PMID:11445644 PMID:11577236 PMID:11709003 PMID:11752419 PMID:11752443 PMID:11812437 PMID:11866053 PMID:11940682 PMID:12000195 PMID:12000196 PMID:12039669 PMID:12050338 PMID:12217248 PMID:12433265 PMID:12440483 PMID:12440486 PMID:12557757 PMID:12557758 PMID:12566023 PMID:12588803 PMID:12617705 PMID:12771253 PMID:12779320 PMID:12874413 PMID:12874414 PMID:12874858 PMID:13367520 PMID:13593935 PMID:13894830 PMID:14404854 PMID:14569203 PMID:14627687 PMID:14640030 PMID:14640031 PMID:14673473 PMID:14695346 PMID:14724437 PMID:14968122 PMID:14986482 PMID:15110620 PMID:15123043 PMID:15185492 PMID:15205369 PMID:15217993 PMID:15249622 PMID:15299606 PMID:15377697 PMID:15478468 PMID:15523922 PMID:15645642 PMID:15735344 PMID:15793844 PMID:15820680 PMID:15930086 PMID:16011990 PMID:16076613 PMID:16194874 PMID:16194875 PMID:16357452 PMID:16362527 PMID:16399646 PMID:16432141 PMID:16448460 PMID:16530227 PMID:16631014 PMID:16631015 PMID:16911959 PMID:17028027 PMID:17062380 PMID:17143887 PMID:17251346 PMID:17338921 PMID:17431395 PMID:17431450 PMID:17453626 PMID:17484624 PMID:17503405 PMID:17554795 PMID:17576681 PMID:17577687 PMID:17577688 PMID:17698792 PMID:17968687 PMID:17968690 PMID:18022643 PMID:18074076 PMID:18276611 PMID:18295603 PMID:18318779 PMID:18460047 PMID:18606975 PMID:18830126 PMID:18863976 PMID:18925456 PMID:18984591 PMID:19118530 PMID:19291509 PMID:19364362 PMID:19372189 PMID:19428025 PMID:19467548 PMID:19491989 PMID:19602727 PMID:19644733 PMID:19709674 PMID:19752327 PMID:19781421 PMID:19808383 PMID:19922332 PMID:20209591 PMID:20301373 PMID:20435197 PMID:20558946 PMID:20660862 PMID:20686303 PMID:20697105 PMID:20714957 PMID:20840742 PMID:20937937 PMID:21135536 PMID:21406045 PMID:21520333 PMID:21540676 PMID:21550574 PMID:21557933 PMID:21600538 PMID:21692911 PMID:21843040 PMID:21992998 PMID:22083004 PMID:22106346 PMID:22149423 PMID:22184092 PMID:22187309 PMID:22209138 PMID:22320251 PMID:22332999 PMID:22382560 PMID:22400056 PMID:22412233 PMID:22449240 PMID:22531659 PMID:22551192 PMID:22580845 PMID:22592564 PMID:22620962 PMID:22620967 PMID:22745357 PMID:22747647 PMID:22877808 PMID:22928869 PMID:22973891 PMID:22995991 PMID:23080516 PMID:23126592 PMID:23279339 PMID:23317988 PMID:23346293 PMID:23387326 PMID:23414091 PMID:23438977 PMID:23523753 PMID:23580146 PMID:23638696 PMID:23713495 PMID:23716704 PMID:23833285 PMID:23993291 PMID:24033266 PMID:24046394 PMID:24053266 PMID:24061768 PMID:24073013 PMID:24101130 PMID:24101373 PMID:24111657 PMID:24131106 PMID:24164154 PMID:24184229 PMID:24356794 PMID:24358189 PMID:24412190 PMID:24455802 PMID:24474780 PMID:24480837 PMID:24517438 PMID:24555660 PMID:24601850 PMID:24633258 PMID:24650283 PMID:24664531 PMID:24767411 PMID:24779883 PMID:24800914 PMID:24818650 PMID:24945718 PMID:24953234 PMID:24955979 PMID:25044787 PMID:25211232 PMID:25225131 PMID:25291558 PMID:25311081 PMID:25395306 PMID:25412400 PMID:25430583 PMID:25526974 PMID:25550818 PMID:25551524 PMID:25636337 PMID:25644864 PMID:25721874 PMID:25741868 PMID:25743335 PMID:25743445 PMID:25819286 PMID:25828388 PMID:25846356 PMID:25857202 PMID:25973863 PMID:25997029 PMID:26017327 PMID:26115788 PMID:26123279 PMID:26123280 PMID:26156087 PMID:26208957 PMID:26243339 PMID:26286619 PMID:26342004 PMID:26369527 PMID:26428663 PMID:26467025 PMID:26521788 PMID:26529114 PMID:26537620 PMID:26610878 PMID:26656838 PMID:26894299 PMID:26986100 PMID:27025994 PMID:27033334 PMID:27066555 PMID:27188913 PMID:27238058 PMID:27249223 PMID:27273296 PMID:27364045 PMID:27386769 PMID:27501389 PMID:27532257 PMID:27562180 PMID:27584576 PMID:27646980 PMID:27724962 PMID:27793437 PMID:27838833 PMID:27858761 PMID:27859927 PMID:27885756 PMID:28166811 PMID:28272196 PMID:28460244 PMID:28492532 PMID:28494620 PMID:28635949 PMID:28790153 PMID:28798025 PMID:28802308 PMID:28878402 PMID:28911993 PMID:29016222 PMID:29048471 PMID:29121657 PMID:29246775 PMID:29351628 PMID:29407121 PMID:29455155 PMID:29524093 PMID:29941560 PMID:30070416 PMID:30311386 PMID:30328212 PMID:30350904 PMID:30685801 PMID:30811423 PMID:30938420 PMID:30953182 PMID:31006018 PMID:31103217 PMID:31135624 PMID:31139689 PMID:31371117 PMID:31502881 PMID:31554435 PMID:31718691 PMID:31728576 PMID:31740141 PMID:31821430 PMID:32393063 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
JBrowse link
X-linked reticulate pigmentary disorder term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pola1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: Pigmentary disorder, reticulate, with systemic manifestations
ClinVar Annotator: match by term: Pigmentary disorder, reticulate, with systemic manifestations, X-linked
ClinVar
OMIM
PMID:25741868 PMID:27019227 PMID:28492532 NCBI chr  X:62,382,604...62,698,830
Ensembl chr  X:62,382,608...62,698,830
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        inherited metabolic disorder 2355
          Familial Amyloidosis 32
            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 + 20
            X-linked reticulate pigmentary disorder 1
            familial visceral amyloidosis 4
            primary cutaneous amyloidosis + 4
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          inherited metabolic disorder 2355
            Familial Amyloidosis 32
              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 + 20
              X-linked reticulate pigmentary disorder 1
              familial visceral amyloidosis 4
              primary cutaneous amyloidosis + 4
paths to the root