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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
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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
 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 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: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:22620962, PMID:22745357, PMID:22877808, PMID:22995991, PMID:23414091, PMID:23580146, PMID:23713495, PMID:23716704, PMID:24033266, PMID:24073013, PMID:24101373, PMID:24111657, PMID:24184229, 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:26428663, PMID:26467025, PMID:26537620, PMID:27249223, PMID:27501389, PMID:27532257, PMID:27562180, PMID:27885756, PMID:28492532, PMID:29121657, 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:24081495, PMID:25034063, PMID:26530418, PMID:27135400, PMID:27785680, PMID:28492532, PMID:29353225 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 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 OMIM:613955 OMIM
ClinVar
PMID:19690585 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: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 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
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:9547003, PMID:9605286, PMID:9701270, PMID:9717013, PMID:9748014, PMID:9748569, PMID:9771673, PMID:9798666, PMID:9818054, PMID:9818883, PMID:9843084, 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: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:17143887, PMID:17251346, PMID:17338921, PMID:17431395, PMID:17431450, PMID:17453626, PMID:17503405, PMID:17554795, PMID:17577688, PMID:17698792, PMID:17968687, 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:22332999, PMID:22382560, PMID:22412233, PMID:22449240, PMID:22531659, PMID:22551192, PMID:22580845, PMID:22592564, PMID:22620962, 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:23713495, PMID:23716704, PMID:23833285, PMID:23993291, PMID:24033266, PMID:24046394, PMID:24053266, PMID:24061768, PMID:24073013, PMID:24101130, PMID:24101373, PMID:24111657, PMID:24164154, PMID:24184229, 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:25526974, PMID:25550818, PMID:25551524, 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:26342004, PMID:26369527, PMID:26428663, PMID:26467025, PMID:26521788, PMID:26529114, PMID:26537620, PMID:26656838, PMID:26894299, PMID:26986100, PMID:27025994, PMID:27066555, PMID:27238058, PMID:27249223, PMID:27273296, PMID:27501389, PMID:27532257, PMID:27562180, PMID:27584576, PMID:27646980, PMID:27724962, PMID:27793437, PMID:27858761, PMID:27859927, PMID:27885756, PMID:28272196, PMID:28460244, PMID:28492532, PMID:28635949, PMID:28790153, PMID:28798025, PMID:28911993, PMID:29121657, PMID:29246775, PMID:29455155, PMID:29524093, PMID:29941560, PMID:30311386, PMID:30685801, PMID:31139689, PMID:31371117, 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 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          Familial Amyloidosis 31
            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 + 19
            X-linked reticulate pigmentary disorder 1
            familial visceral amyloidosis 4
            primary cutaneous amyloidosis + 4
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            Familial Amyloidosis 31
              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 + 19
              X-linked reticulate pigmentary disorder 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.