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.
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Abcc9
ATP binding cassette subfamily C member 9
ISO
ClinVar Annotator: match by term: cardiac conduction defect
ClinVar
PMID:23861362 PMID:24033266 PMID:25741868 PMID:26498160 PMID:28492532
NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
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Ank2
ankyrin 2
ISO
ClinVar Annotator: match by term: cardiac conduction defect
ClinVar
PMID:7485162 PMID:12571597 PMID:15178757 PMID:16253912 PMID:16650839 PMID:17242276 PMID:17928548 PMID:17940615 PMID:18832177 PMID:19394342 PMID:22411828 PMID:22581653 PMID:23174487 PMID:23396983 PMID:23631430 PMID:23861362 PMID:24025405 PMID:24033266 PMID:24981977 PMID:25351510 PMID:25741868 PMID:26159999 PMID:26220970 PMID:26350513 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28988457 PMID:29198934 PMID:29247119 PMID:29431110 PMID:29790872 PMID:33919104 More...
NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
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Casq2
calsequestrin 2
ISO
ClinVar Annotator: match by term: cardiac conduction defect
ClinVar
PMID:25741868 PMID:27114410 PMID:28492532
NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267
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Dmd
dystrophin
ISO
ClinVar Annotator: match by term: cardiac conduction defect
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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Dsg2
desmoglein 2
ISO
ClinVar Annotator: match by term: cardiac conduction defect
ClinVar
PMID:21606396 PMID:25741868 PMID:28492532 PMID:29517769 PMID:30847666
NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
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Dsp
desmoplakin
ISO
ClinVar Annotator: match by term: cardiac conduction defect
ClinVar
PMID:20857253 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31983221
NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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Jup
junction plakoglobin
ISO
ClinVar Annotator: match by term: cardiac conduction defect
ClinVar
PMID:25741868 PMID:27532257 PMID:28492532 PMID:30847666
NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
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Kcnh2
potassium voltage-gated channel subfamily H member 2
ISO
ClinVar Annotator: match by term: cardiac conduction defect
ClinVar
PMID:17088455 PMID:19322600 PMID:19841300 PMID:21410720 PMID:22581653 PMID:22677073 PMID:23465283 PMID:23631430 PMID:23861362 PMID:24033266 PMID:24334129 PMID:25637381 PMID:25741868 PMID:26159999 PMID:28492532 More...
NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
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Kcnq1
potassium voltage-gated channel subfamily Q member 1
ISO
ClinVar Annotator: match by term: cardiac conduction defect
ClinVar
PMID:9323054 PMID:10482963 PMID:10704188 PMID:10737999 PMID:10973849 PMID:11530100 PMID:12736279 PMID:14510661 PMID:15935335 PMID:16556866 PMID:19862833 PMID:22309168 PMID:22539601 PMID:23098067 PMID:23392653 PMID:24033266 PMID:24052033 PMID:24552659 PMID:24912595 PMID:25236808 PMID:25705178 PMID:25741868 PMID:26019114 PMID:26546361 PMID:27451284 PMID:27816319 PMID:27831900 PMID:28438721 PMID:28492532 PMID:28720088 PMID:29247119 PMID:29372044 PMID:29379719 PMID:29654130 PMID:29661707 PMID:29740400 PMID:29922582 PMID:32238909 More...
NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
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Mybpc3
myosin binding protein C3
ISO
ClinVar Annotator: match by term: cardiac conduction defect
ClinVar
PMID:9536098 PMID:15519027 PMID:16858239 PMID:17576681 PMID:18273486 PMID:18533079 PMID:20215591 PMID:21415409 PMID:21499742 PMID:21832025 PMID:21832052 PMID:21835320 PMID:22361390 PMID:22555271 PMID:23054336 PMID:23861362 PMID:24033266 PMID:24111713 PMID:24510615 PMID:25031304 PMID:25351510 PMID:25740977 PMID:25741868 PMID:26914223 PMID:27483260 PMID:27532257 PMID:27688314 PMID:28138913 PMID:28356264 PMID:28492532 PMID:28658286 PMID:28679633 PMID:28824454 PMID:28916354 PMID:28971120 PMID:34137518 More...
NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
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Myh7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: cardiac conduction defect
ClinVar
PMID:16199547 PMID:25741868 PMID:28492532 PMID:29343803 PMID:36923113
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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Nkx2-5
NK2 homeobox 5
ISO
RGD
PMID:11457872
RGD:12914774
NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
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Pkp2
plakophilin 2
ISO
ClinVar Annotator: match by term: cardiac conduction defect
ClinVar
PMID:17010805 PMID:20400443 PMID:23183494 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25351510 PMID:25741868 PMID:26230511 PMID:27085656 PMID:28492532 PMID:29172153 PMID:29192238 PMID:29288195 PMID:30821013 PMID:33029862 More...
NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730
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Ryr2
ryanodine receptor 2
ISO
ClinVar Annotator: match by term: cardiac conduction defect
ClinVar
PMID:19926015 PMID:21964171 PMID:23204524 PMID:23396983 PMID:23861362 PMID:24025405 PMID:24033266 PMID:24055113 PMID:25163546 PMID:25351510 PMID:25637381 PMID:25741868 PMID:26332594 PMID:26899768 PMID:27153395 PMID:27231019 PMID:27538377 PMID:27930701 PMID:28404607 PMID:28492532 PMID:28771489 PMID:31539150 PMID:31737537 PMID:32152366 PMID:32508047 PMID:32746448 PMID:33500567 PMID:35819174 PMID:35932045 More...
NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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Scn5a
sodium voltage-gated channel alpha subunit 5
ISO
ClinVar Annotator: match by term: cardiac conduction defect
ClinVar
PMID:10508990 PMID:10961955 PMID:10973849 PMID:17210839 PMID:17210841 PMID:17646591 PMID:18451998 PMID:19716085 PMID:19841300 PMID:22378279 PMID:22581653 PMID:22685113 PMID:23465283 PMID:24033266 PMID:24055113 PMID:24144883 PMID:24613995 PMID:24631775 PMID:25210526 PMID:25351510 PMID:25410959 PMID:25637381 PMID:25741868 PMID:25904541 PMID:26743238 PMID:26746457 PMID:26822237 PMID:28341588 PMID:28412158 PMID:28492532 PMID:28988457 PMID:29247119 PMID:29331327 PMID:29764897 PMID:29790872 PMID:30847666 PMID:31019283 PMID:31043699 PMID:32048431 PMID:32652122 PMID:34426522 PMID:36129056 More...
NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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Trpm4
transient receptor potential cation channel, subfamily M, member 4
ISO
ClinVar Annotator: match by term: cardiac conduction defect
ClinVar
PMID:21887725 PMID:23382873 PMID:25416190 PMID:25741868 PMID:28492532
NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
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Ttr
transthyretin
ISO
ClinVar Annotator: match by term: cardiac conduction defect
ClinVar
PMID:10439123 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29875424 PMID:31371117 PMID:35903975 More...
NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
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Scn5a
sodium voltage-gated channel alpha subunit 5
ISO
ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific
ClinVar
PMID:2030070 PMID:11748104 PMID:12574143 PMID:14523039 PMID:16922724 PMID:18809926 PMID:19251209 PMID:19606473 PMID:19716085 PMID:20031634 PMID:20129283 PMID:20384651 PMID:20539757 PMID:22581653 PMID:22885917 PMID:24136861 PMID:24573164 PMID:24815523 PMID:24948852 PMID:25624448 PMID:25637381 PMID:25741868 PMID:26022185 PMID:26031372 PMID:26916278 PMID:27082542 PMID:28449774 PMID:28492532 PMID:28781330 PMID:29167113 PMID:29709101 PMID:29728395 PMID:30193851 PMID:30662450 PMID:30847666 PMID:31191357 PMID:31447099 PMID:31866066 PMID:31928070 PMID:31981491 PMID:32048431 PMID:32371921 PMID:32533946 PMID:32746448 PMID:32850980 PMID:32893267 PMID:33131149 PMID:34539730 PMID:34620408 PMID:35027292 PMID:35124229 PMID:36516610 PMID:37061847 More...
NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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Lmna
lamin A/C
ISO
DNA:missense mutations:cds:multiple (human)
RGD
PMID:10580070
RGD:11066902
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Lrrc53
leucine rich repeat containing 53
ISO
ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy | ClinVar Annotator: match by term: TNNI3K-related condition
ClinVar
PMID:25741868 PMID:28492532 PMID:30010057 PMID:34203974
NCBI chr 2:243,781,445...243,807,037
Ensembl chr 2:243,769,297...243,803,164
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Tnni3k
TNNI3 interacting kinase
ISO
ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy | ClinVar Annotator: match by term: TNNI3K-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16199547 PMID:24925317 PMID:25741868 PMID:25791106 PMID:28492532 PMID:29355681 PMID:30010057 PMID:31589606 PMID:33084860 PMID:34203974 More...
NCBI chr 2:243,737,346...244,005,319
Ensembl chr 2:243,710,950...244,005,268
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