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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:aortic disease
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Accession:DOID:520 term browser browse the term
Definition:Pathological processes involving any part of the AORTA.
Synonyms:exact_synonym: Aortopathy;   Familial Aortopathy;   aortic diseases;   aortic disorder;   disorder of the aorta
 primary_id: MESH:D001018
 alt_id: RDO:0003170
 xref: NCI:C101253
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
aortic disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Familial aortopathy ClinVar PMID:19409525 PMID:21212136 PMID:21248741 PMID:21937134 PMID:23613326 PMID:24243736 PMID:24621862 PMID:25741868 PMID:25759435 PMID:26153420 PMID:27481187 PMID:27567161 PMID:27611364 PMID:28492532 PMID:29907982 NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment IEP associated with Diabetes Mellitus, Experimental RGD PMID:22644855 RGD:7245538 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Familial aortopathy ClinVar PMID:7695699 PMID:8218237 PMID:10706896 PMID:18272325 PMID:19344236 PMID:24033266 PMID:24922459 PMID:25741868 PMID:25758994 PMID:28492532 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Familial aortopathy ClinVar NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Familial aortopathy ClinVar NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Lamc1 laminin subunit gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr13:70,656,727...70,783,515
Ensembl chr13:70,658,707...70,783,515
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15545515 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15545515 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Familial aortopathy ClinVar PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Familial aortopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:860,513...904,624
Ensembl chr10:860,521...896,938
JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Familial aortopathy ClinVar PMID:25741868 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
JBrowse link
G Smad4 SMAD family member 4 ISO associated with Juvenile Polyposis Syndrome RGD PMID:25931195 RGD:11062588 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Familial aortopathy ClinVar PMID:22772368 PMID:23102774 PMID:26854089 PMID:28492532 PMID:31191903 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Familial aortopathy ClinVar PMID:16928994 PMID:23884466 PMID:26848186 PMID:27879313 PMID:28492532 NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 IEP RGD PMID:17873024 RGD:2313112 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
abdominal aortic aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme treatment IMP RGD PMID:24602481 RGD:11039028 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Ace2 angiotensin I converting enzyme 2 ISO CTD Direct Evidence: therapeutic CTD PMID:25301841 NCBI chr  X:32,050,734...32,095,860
Ensembl chr  X:32,049,931...32,096,016
JBrowse link
G Adm adrenomedullin ISO protein:increased expression:mast cell, abdominal aorta RGD PMID:16524566 RGD:1625299 NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:16514081 PMID:20937366 PMID:22539767 PMID:25301841 PMID:30354818 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO mRNA:increased expression:abdominal aorta
CTD Direct Evidence: marker/mechanism
CTD PMID:22539767, PMID:18451329 RGD:5147451 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Apoe apolipoprotein E disease_progression ISO DNA:missense mutations, haplotypes:cds:p.C112R (rs7412), p.R158C (rs429358) (human) RGD PMID:10848855, PMID:10841519 RGD:1578483, RGD:6903247 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Casp3 caspase 3 IEP protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Cav1 caveolin 1 ISO associated with Hypertension RGD PMID:24329494 RGD:8661789 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP protein:increased expression:aorta RGD PMID:18482727 RGD:2307015 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm ClinVar PMID:17182944 NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
JBrowse link
G Crp C-reactive protein ISO protein:increased expression:plasma RGD PMID:30004237 RGD:13782270 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Csf2 colony stimulating factor 2 severity IEP mRNA:increased expression:aorta:
protein:decreased expression:serum (rat)
RGD PMID:15010288, PMID:15238617 RGD:10450246, RGD:1302825 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
JBrowse link
G Dab2ip DAB2 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:20622881 NCBI chr 3:14,889,263...15,060,286
Ensembl chr 3:14,889,510...15,060,286
JBrowse link
G Ehf ets homologous factor treatment IMP RGD PMID:14662712 RGD:1581123 NCBI chr 3:93,176,257...93,216,484
Ensembl chr 3:93,178,163...93,216,495
JBrowse link
G Eln elastin treatment ISO
IDA
RGD PMID:15944607, PMID:18585885 RGD:1580157, RGD:9585668 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Faslg Fas ligand IEP protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Ftl1 ferritin light chain 1 ISO ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:101,448,190...101,450,034
Ensembl chr 1:101,448,346...101,449,829
JBrowse link
G Gys1 glycogen synthase 1 ISO ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm ClinVar PMID:17182944 PMID:18414213 PMID:25741868 NCBI chr 1:101,427,195...101,447,092
Ensembl chr 1:101,427,195...101,447,092
JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:12182912 RGD:1580455 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Ifng interferon gamma IEP protein:increased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il10 interleukin 10 IEP protein:decreased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il1b interleukin 1 beta IEP protein:decreased expression:serum (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Itgav integrin subunit alpha V ISO RGD PMID:16809548 RGD:1582446 NCBI chr 3:71,113,269...71,205,958
Ensembl chr 3:71,114,100...71,202,411
JBrowse link
G Kng1 kininogen 1 IMP RGD PMID:15238617 RGD:1302825 NCBI chr11:81,421,672...81,444,466
Ensembl chr11:81,421,676...81,444,621
JBrowse link
G Lox lysyl oxidase IDA RGD PMID:10965315 RGD:1581887 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:16311603 RGD:1582313 NCBI chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:16293969 RGD:1582519 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp12 matrix metallopeptidase 12 no_association ISO RGD PMID:16115023, PMID:16082623 RGD:1582355, RGD:1582356 NCBI chr 8:5,594,717...5,616,494
Ensembl chr 8:5,606,592...5,616,493
JBrowse link
G Mmp13 matrix metallopeptidase 13 no_association ISO RGD PMID:15944607, PMID:15156361 RGD:1580157, RGD:1582548 NCBI chr 8:5,522,739...5,533,018
Ensembl chr 8:5,522,739...5,533,018
JBrowse link
G Mmp14 matrix metallopeptidase 14 IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:19010778, PMID:15300177, PMID:11877705 RGD:1582579, RGD:1582584 NCBI chr15:33,074,441...33,083,666
Ensembl chr15:33,074,441...33,083,655
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment
no_association
IEP
IDA
ISO
RGD PMID:20016209, PMID:21256058, PMID:24484904, PMID:15238617, PMID:16458924, PMID:15300177 RGD:2325698, RGD:13207313, RGD:8657104, RGD:1302825, RGD:1582621, RGD:1582579 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp3 matrix metallopeptidase 3 IEP protein:increased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Mmp8 matrix metallopeptidase 8 severity ISO RGD PMID:16432074, PMID:16432074 RGD:1582641, RGD:1582641 NCBI chr 8:5,768,808...5,777,741
Ensembl chr 8:5,768,811...5,778,702
JBrowse link
G Mmp9 matrix metallopeptidase 9 severity
treatment
ISO
IDA
CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16432074 PMID:17196988, PMID:16432074, PMID:21256058 RGD:1582641, RGD:1582641, RGD:13207313 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:transition:cds:g.677C>T (human) RGD PMID:17398378 RGD:6893584 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Myh11 myosin heavy chain 11 ISO protein:increased expression:plasma RGD PMID:30004237 RGD:13782270 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16864727 NCBI chr12:25,497,104...25,506,300
Ensembl chr12:25,497,104...25,506,300
JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:increased expression:aorta tunica media RGD PMID:15800493 RGD:1580261 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G P2ry12 purinergic receptor P2Y12 IMP RGD PMID:19028049 RGD:6480528 NCBI chr 2:149,440,807...149,482,592
Ensembl chr 2:149,441,598...149,444,548
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30354818 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Pla2g7 phospholipase A2 group VII ISO RGD PMID:11807372 RGD:1581024 NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
JBrowse link
G Postn periostin ISO protein:increased expression:aorta: RGD PMID:24260297, PMID:24260297 RGD:10041046, RGD:10041046 NCBI chr 2:143,656,820...143,688,087
Ensembl chr 2:143,656,793...143,688,087
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16514081 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphism (human) RGD PMID:17182961 RGD:5147824 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:16879749 RGD:5147825 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Sell selectin L IEP RGD PMID:15998669 RGD:5685707 NCBI chr13:82,369,820...82,387,774
Ensembl chr13:82,369,493...82,387,631
JBrowse link
G Serpine1 serpin family E member 1 IMP RGD PMID:20554458 RGD:4144856 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Sod2 superoxide dismutase 2 IEP
ISO
mRNA, protein:increased expression:aorta
CTD Direct Evidence: marker/mechanism
CTD PMID:17196988, PMID:17196988 RGD:1625699 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 IEP protein:decreased expression:aorta (rat) RGD PMID:15238617 RGD:1302825 NCBI chr 4:147,156,948...147,163,467
Ensembl chr 4:147,156,948...147,163,467
JBrowse link
aortic aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:21925196 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO RGD PMID:17182931 RGD:1626150 NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
JBrowse link
G Aoc3 amine oxidase, copper containing 3 IMP RGD PMID:16397885 RGD:2313928 NCBI chr10:89,251,370...89,259,313
Ensembl chr10:89,251,370...89,259,313
JBrowse link
G Atp7a ATPase copper transporting alpha ISS MouseDO NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:24055113 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Aortic dilatation ClinVar NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISS MouseDO NCBI chr 1:220,853,695...220,861,420
Ensembl chr 1:220,854,403...220,861,420
JBrowse link
G Eln elastin ISO associated with Cutis Laxa; RGD PMID:16085695 RGD:9585744 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Fbn1 fibrillin 1 severity ISO DNA:missense mutation:cds:p.G1127S (human)
ClinVar Annotator: match by term: Aortic aneurysm
DNA:missense mutation:cds:p.C1039G (mouse)
ClinVar PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 PMID:12938084 PMID:14695540 PMID:15241795 PMID:17627385 PMID:17657824 PMID:19159394 PMID:19293843 PMID:21907952 PMID:24033266 PMID:24161884 PMID:24833718 PMID:25741868 PMID:25907466 PMID:26333736 PMID:27146836 PMID:27611364 PMID:28492532 PMID:29357934 PMID:30675029 PMID:30739908, PMID:7762551, PMID:24071006 RGD:1300362, RGD:7365039 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Aortic dilatation ClinVar PMID:18414213 PMID:21836662 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Hdac4 histone deacetylase 4 ISO mRNA:decreased expression:aorta: RGD PMID:19389706 RGD:9681448 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Klf15 Kruppel-like factor 15 ISS MouseDO NCBI chr 4:122,364,688...122,377,690
Ensembl chr 4:122,365,093...122,377,659
JBrowse link
G Lox lysyl oxidase ISO RGD PMID:12417550 RGD:1581885 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10231640 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Aortic aneurysm
ClinVar Annotator: match by term: Aortic dilatation
ClinVar PMID:22001912 PMID:25741868 PMID:28492532 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Familial aortic aneurysms ClinVar PMID:26017485 PMID:28492532 NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:22001912 PMID:28492532 NCBI chr10:860,513...904,624
Ensembl chr10:860,521...896,938
JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO RGD PMID:22570740, PMID:22570740 RGD:6483518, RGD:6483518 NCBI chr 2:54,951,625...54,966,470
Ensembl chr 2:54,952,821...54,963,448
JBrowse link
G Serpine1 serpin family E member 1 treatment IMP RGD PMID:9697825 RGD:8547863 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Ski SKI proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:23023332 NCBI chr 5:172,556,196...172,623,878
Ensembl chr 5:172,559,135...172,623,899
JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21217753 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Aortic aneurysm ClinVar PMID:25741868 PMID:28492532 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO RGD PMID:18313409 RGD:2299005 NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16885183, PMID:18313409 RGD:2299005 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
Aortic Aneurysm, Familial Abdominal 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Familial abdominal aortic aneurysm 1 ClinVar NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
JBrowse link
Aortic Aneurysm, Giant Congenital term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Aortic aneurysm, giant congenital ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 PMID:16825433 PMID:17551924 PMID:18039235 PMID:18413255 PMID:19206169 PMID:23875798 PMID:24033266 PMID:24283439 PMID:31474318 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
aortic atherosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E IMP RGD PMID:29459263 RGD:13703129 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Capn1 calpain 1 IEP protein:increased activity:aorta RGD PMID:23006733 RGD:13792498 NCBI chr 1:221,346,081...221,370,965
Ensembl chr 1:221,346,066...221,370,322
JBrowse link
G Mir223 microRNA 223 ISO RNA:increased expression:serum,aorta RGD PMID:26065992 RGD:25824846 NCBI chr  X:65,367,812...65,367,921
Ensembl chr  X:65,367,812...65,367,921
JBrowse link
aortic dissection term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Acute aortic dissection
ClinVar Annotator: match by term: Aortic dissection
ClinVar PMID:8040326 PMID:8541880 PMID:8791520 PMID:9399842 PMID:9401003 PMID:9452085 PMID:10633129 PMID:11143906 PMID:11524736 PMID:11700157 PMID:11748851 PMID:11826022 PMID:11933199 PMID:12203987 PMID:12446365 PMID:12938084 PMID:14695540 PMID:15054843 PMID:15241795 PMID:16222657 PMID:16971892 PMID:17618372 PMID:17627385 PMID:17657824 PMID:17679947 PMID:18087243 PMID:18435798 PMID:18615205 PMID:19089573 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19618372 PMID:19839986 PMID:19863550 PMID:21895641 PMID:21932315 PMID:22772377 PMID:23506379 PMID:24033266 PMID:24161884 PMID:24199744 PMID:24793577 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25637381 PMID:25741868 PMID:25812041 PMID:25944730 PMID:26272055 PMID:26621581 PMID:26787436 PMID:27112580 PMID:27153395 PMID:27582083 PMID:28492532 PMID:28655553 PMID:28659821 PMID:29357934 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Aortic dissection ClinVar PMID:1301956 PMID:2088165 PMID:2318961 PMID:3263645 PMID:8882879 PMID:9157944 PMID:9484998 PMID:10782930 PMID:10978268 PMID:12837857 PMID:16183066 PMID:16250003 PMID:17094996 PMID:17765246 PMID:18677035 PMID:19318025 PMID:20506408 PMID:21310417 PMID:21475731 PMID:21722902 PMID:22390909 PMID:22698793 PMID:23375686 PMID:24033266 PMID:25741868 PMID:27765764 PMID:28492532 PMID:31345425 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
JBrowse link
G Lox lysyl oxidase ISO ClinVar Annotator: match by term: Acute aortic dissection ClinVar PMID:26838787 PMID:30675029 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Aortic dissection ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Ascending aortic dissection ClinVar PMID:25741868 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
JBrowse link
Aortic Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcmt1 protein-L-isoaspartate (D-aspartate) O-methyltransferase 1 IEP RGD PMID:9188065 RGD:10448925 NCBI chr 1:1,734,863...1,767,759
Ensembl chr 1:1,736,276...1,767,618
JBrowse link
G Vwf von Willebrand factor IEP protein:increased expression:endothelial cell: RGD PMID:2650559 RGD:11079230 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
Aortic Rupture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:2346371 PMID:25449986 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
G Edn2 endothelin 2 ISO RGD PMID:11947982 RGD:1580915 NCBI chr 5:139,098,472...139,106,396
Ensembl chr 5:139,100,898...139,105,792
JBrowse link
G Fbn1 fibrillin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO associated with Hypertension RGD PMID:9405681 RGD:737701 NCBI chr 2:189,840,403...189,857,032
Ensembl chr 2:189,840,403...189,856,090
JBrowse link
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16549638 NCBI chr 1:199,338,785...199,341,306
Ensembl chr 1:199,337,138...199,341,302
JBrowse link
aortic valve disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: AORTIC VALVE DISEASE ClinVar PMID:25741868 PMID:28492532 PMID:30858776 PMID:31903434 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Dsg1 desmoglein 1 ISO ClinVar Annotator: match by term: Bicuspid aortic valve ClinVar NCBI chr18:12,008,301...12,040,337
Ensembl chr18:12,008,759...12,038,053
JBrowse link
G Egfr epidermal growth factor receptor ISS MouseDO NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Eln elastin ISS MouseDO NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: AORTIC VALVE DISEASE ClinVar NCBI chr 3:175,701,278...175,709,465
Ensembl chr 3:175,701,280...175,709,465
JBrowse link
G Hey2 hes-related family bHLH transcription factor with YRPW motif 2 ISS MouseDO NCBI chr 1:29,191,170...29,201,257
Ensembl chr 1:29,191,192...29,201,531
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Aortic valve disease ClinVar PMID:25741868 PMID:28492532 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Nos3 nitric oxide synthase 3 ISS MouseDO NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: AORTIC VALVE DISEASE
ClinVar Annotator: match by term: Aortic valve disorder
ClinVar PMID:16025100 PMID:16729972 PMID:18593716 PMID:20007775 PMID:24113472 PMID:24728327 PMID:25326637 PMID:25587027 PMID:25741868 PMID:26188975 PMID:26708639 PMID:26820064 PMID:27760138 PMID:28492532 PMID:29907982 PMID:31866570 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISS MouseDO NCBI chr14:59,657,738...59,865,427
Ensembl chr14:59,658,935...59,735,450
JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Aortic valve disease ClinVar PMID:30455415 NCBI chr 8:39,082,693...39,093,344
Ensembl chr 8:39,083,327...39,093,277
JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: AORTIC VALVE DISEASE ClinVar PMID:28492532 PMID:30796334 NCBI chr 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108
JBrowse link
G Tbx20 T-box transcription factor 20 ISO ClinVar Annotator: match by term: AORTIC VALVE DISEASE ClinVar NCBI chr 8:25,849,394...25,904,570
Ensembl chr 8:25,850,962...25,904,570
JBrowse link
aortic valve disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: AORTIC VALVE DISEASE 1 ClinVar PMID:25741868 PMID:28492532 PMID:30858776 PMID:31903434 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IEP mRNA:increased expression:aorta (rat) RGD PMID:22659116 RGD:12914785 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
G Il6 interleukin 6 severity ISO RGD PMID:23969418 RGD:12792206 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Notch1 notch receptor 1 ISO DNA:nonsense mutation, deletion:cds:p.R1108X, p.H1505Xfs (human)
ClinVar Annotator: match by term: AORTIC VALVE DISEASE 1
ClinVar Annotator: match by OMIM:109730
ClinVar
OMIM
PMID:16729972 PMID:24113472 PMID:24728327 PMID:25587027 PMID:25741868 PMID:26188975 PMID:26708639 PMID:26820064 PMID:28492532 PMID:31866570, PMID:16025100 RGD:1580758 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
aortic valve disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO protein:decreased expression:aorta wall, nucleus (human) RGD PMID:24560417 RGD:12791292 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:serum RGD PMID:23615040 RGD:13204802 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO DNA:nonsense mutation:exon:p.K192X (human)
DNA:missense mutations: :p.Q22K, p.R36S, p.E54K (human)
RGD PMID:25438918, PMID:22179962 RGD:12914790, RGD:12914791 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Aortic valve disease 2
ClinVar Annotator: match by term: AORTIC VALVE STENOSIS
ClinVar Annotator: match by OMIM:614823
OMIM
ClinVar
PMID:22275001 PMID:25741868 PMID:27606499 PMID:28492532 PMID:28659821 PMID:30796334 PMID:30848080 NCBI chr 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108
JBrowse link
G Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Aortic valve disease 2
ClinVar Annotator: match by term: AORTIC VALVE STENOSIS
ClinVar PMID:2070544 PMID:8911604 PMID:8988164 PMID:8988165 PMID:10077612 PMID:10077762 PMID:11431700 PMID:11555635 PMID:12499378 PMID:12789647 PMID:14402857 PMID:15710732 PMID:16183809 PMID:16380715 PMID:16917909 PMID:17534187 PMID:18706711 PMID:19648116 PMID:20450920 PMID:20519243 PMID:21637475 PMID:21897873 PMID:24033266 PMID:24664498 PMID:25260786 PMID:25263169 PMID:25326637 PMID:25500235 PMID:25623069 PMID:25680289 PMID:25741868 PMID:25931334 PMID:26219450 PMID:26401820 PMID:26762269 PMID:26859351 PMID:28492532 PMID:30143665 NCBI chr12:42,059,688...42,148,226
Ensembl chr12:42,097,626...42,148,146
JBrowse link
Aortic Valve Disease 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: AORTIC VALVE DISEASE 3 OMIM
ClinVar
PMID:30455415 NCBI chr 8:39,082,693...39,093,344
Ensembl chr 8:39,083,327...39,093,277
JBrowse link
aortic valve insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccn2 cellular communication network factor 2 IEP
ISO
mRNA:increased expression:left ventricle (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:21216836, PMID:19112094 RGD:2314539 NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Aortic valve regurgitation ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Fn1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
JBrowse link
G Fstl1 follistatin-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr11:65,791,196...65,845,721
Ensembl chr11:65,782,567...65,845,418
JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO associated with Rheumatic Fever;DNA:polymorphism:exon: RGD PMID:18400978 RGD:12910860 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
JBrowse link
G Nppb natriuretic peptide B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21216836 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
aortic valve stenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb1 adrenoceptor beta 1 ISO RGD PMID:1648674 RGD:7241565 NCBI chr 1:277,537,585...277,538,985
Ensembl chr 1:277,537,585...277,538,985
JBrowse link
G Apob apolipoprotein B ISO RGD PMID:11903341 RGD:1578425 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Bambi BMP and activin membrane-bound inhibitor ISO protein:increased expression:myocardium: RGD PMID:23168040 RGD:14390160 NCBI chr17:56,905,419...56,909,675
Ensembl chr17:56,905,112...56,909,992
JBrowse link
G Egfr epidermal growth factor receptor ISO RGD PMID:10700187 RGD:734918 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Egr1 early growth response 1 ISO protein:increased expression:aortic valve cusp RGD PMID:15597579 RGD:1626496 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Eln elastin ISO RGD PMID:11175284 RGD:1580327 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Eno3 enolase 3 IEP mRNA:decreased expression:cardiac muscle cell RGD PMID:8594891 RGD:2301765 NCBI chr10:57,278,271...57,283,661
Ensembl chr10:57,278,307...57,283,653
JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:15533858 RGD:1580704 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Jarid2 jumonji and AT-rich interaction domain containing 2 ISO mRNA, protein:decreased expression:ventricle endocardium (human) RGD PMID:18805276 RGD:9586018 NCBI chr17:20,183,440...20,365,219
Ensembl chr17:20,184,245...20,364,714
JBrowse link
G Lgals3 galectin 3 ISO RGD PMID:15520318 RGD:9685214 NCBI chr15:24,153,602...24,165,537
Ensembl chr15:24,141,651...24,165,537
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:15780799 RGD:1582522 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Nppc natriuretic peptide C IEP mRNA:decreased expression:aortic valve RGD PMID:17709640 RGD:1642267 NCBI chr 9:93,731,436...93,735,636
Ensembl chr 9:93,731,436...93,735,636
JBrowse link
G Ogt O-linked N-acetylglucosamine (GlcNAc) transferase ISO mRNA:increased expression:heart left ventricle (human) RGD PMID:22128088 RGD:9590202 NCBI chr  X:71,540,870...71,585,906
Ensembl chr  X:71,528,988...71,585,908
JBrowse link
G Ppp3cb protein phosphatase 3 catalytic subunit beta ISO RGD PMID:15533858 RGD:1580704 NCBI chr15:4,209,702...4,236,895
Ensembl chr15:4,209,703...4,236,895
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO with Egfr mutation RGD PMID:10700187 RGD:734918 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Tnf tumor necrosis factor ISS OMIM:109730 | OMIM:614823 MouseDO NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO protein:increased expression:serum RGD PMID:20211333 RGD:7205491 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
G Vdr vitamin D receptor ISO RGD PMID:11359741 RGD:1580365 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
Aortic Valve, Calcification of term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Cd40lg CD40 ligand treatment IDA RGD PMID:24374105 RGD:11352276 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: AORTIC VALVE, CALCIFICATION OF ClinVar PMID:25741868 PMID:28492532 PMID:30858776 PMID:31903434 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 severity ISO RGD PMID:15120829 RGD:12910476 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AORTIC VALVE, CALCIFICATION OF
CTD
ClinVar
PMID:16025100 PMID:16729972 PMID:24113472 PMID:24728327 PMID:25587027 PMID:25741868 PMID:26188975 PMID:26708639 PMID:26820064 PMID:28492532 PMID:31866570 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells RGD PMID:25722432, PMID:25722432 RGD:13207434, RGD:13207434 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Pth parathyroid hormone disease_progression IEP protein:increased expression:serum (rat) RGD PMID:22634235 RGD:7242900 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Slc20a1 solute carrier family 20 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chr 3:121,725,204...121,739,160
Ensembl chr 3:121,725,859...121,739,173
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
Apical Hypertrophic Cardiomyopathy and Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy ClinVar PMID:21686774 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy OMIM
ClinVar
PMID:21686774 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
JBrowse link
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 22
ClinVar Annotator: match by OMIM:606346
OMIM
ClinVar
PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 PMID:18212818 PMID:18348273 PMID:24033266 PMID:25741868 PMID:26445815 PMID:26467025 PMID:28492532 NCBI chr 8:87,583,649...87,731,271
Ensembl chr 8:87,630,916...87,731,269
JBrowse link
bicuspid aortic valve disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg1 desmoglein 1 ISO ClinVar Annotator: match by term: Bicuspid aortic valve ClinVar NCBI chr18:12,008,301...12,040,337
Ensembl chr18:12,008,759...12,038,053
JBrowse link
G Mgp matrix Gla protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19350115 NCBI chr 4:170,856,783...170,860,105
Ensembl chr 4:170,856,751...170,860,225
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Bicuspid aortic valve ClinVar PMID:18495510 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Bicuspid aortic valve ClinVar NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Bicuspid aortic valve ClinVar PMID:25741868 PMID:28492532 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bicuspid aortic valve
CTD
ClinVar
PMID:24728327 PMID:25741868 PMID:28492532 PMID:30455415 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Pdia2 protein disulfide isomerase family A, member 2 ISO ClinVar Annotator: match by term: Bicuspid aortic valve ClinVar
G Robo4 roundabout guidance receptor 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bicuspid aortic valve
CTD
ClinVar
PMID:30455415 NCBI chr 8:39,082,693...39,093,344
Ensembl chr 8:39,083,327...39,093,277
JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Bicuspid aortic valve ClinVar NCBI chr 3:162,182,156...162,194,610
Ensembl chr 3:162,181,974...162,194,804
JBrowse link
G Smad6 SMAD family member 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bicuspid aortic valve
CTD
ClinVar
PMID:25741868 PMID:28492532 PMID:30455415 NCBI chr 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108
JBrowse link
Congenital Heart Defects, Multiple Types, 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flt4 Fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7 OMIM
ClinVar
PMID:28991257 PMID:30232381 NCBI chr10:35,078,782...35,120,296
Ensembl chr10:35,078,726...35,121,599
JBrowse link
familial hypertrophic cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar NCBI chr 4:176,806,098...176,928,540
Ensembl chr 4:176,805,431...176,922,424
JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar NCBI chr10:56,619,321...56,624,468
Ensembl chr10:56,619,303...56,624,526
JBrowse link
G Actc1 actin, alpha, cardiac muscle 1 ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar PMID:10966831 PMID:12860912 PMID:14729850 PMID:15058760 PMID:16267253 PMID:16611632 PMID:17611253 PMID:17623677 PMID:17916152 PMID:17947298 PMID:18379140 PMID:18400036 PMID:18506004 PMID:18519860 PMID:18801786 PMID:19184181 PMID:19467449 PMID:19799913 PMID:20497191 PMID:20965760 PMID:21297463 PMID:21524215 PMID:21551322 PMID:21622575 PMID:24033266 PMID:24736382 PMID:25741868 PMID:28492532 NCBI chr 3:105,507,403...105,512,939
Ensembl chr 3:105,507,403...105,512,939
JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:14567970 PMID:17097056 PMID:20022194 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25224718 PMID:25611685 PMID:25626705 PMID:25741868 PMID:26899768 PMID:27287556 PMID:27532257 PMID:27896284 PMID:28301460 PMID:28492532 PMID:28790153 PMID:28798025 PMID:28986455 PMID:29247119 PMID:30615648 PMID:30775854 PMID:31110529 PMID:31333075 PMID:31568572 NCBI chr17:66,304,530...66,397,647
Ensembl chr17:66,304,501...66,397,653
JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:19525294 PMID:23299917 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:254,726,985...254,745,673
Ensembl chr 1:254,726,969...254,735,548
JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:28492532 NCBI chr 1:199,941,258...199,965,191
Ensembl chr 1:199,941,161...199,965,191
JBrowse link
G Calm3 calmodulin 3 susceptibility ISO DNA:polymorphism:promoter:¿¿¿34T>A(human) RGD PMID:19429631 RGD:13792494 NCBI chr 1:78,844,520...78,851,628
Ensembl chr 1:78,843,080...78,851,719
JBrowse link
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar NCBI chr16:19,097,391...19,124,062
Ensembl chr16:19,097,391...19,124,062
JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:14672715 PMID:15580566 NCBI chr 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:1560021 PMID:16483541 PMID:16793013 PMID:17116488 PMID:20171888 PMID:21920752 PMID:22106715 PMID:22995991 PMID:23194663 PMID:23299917 PMID:24033266 PMID:25208129 PMID:25741868 PMID:26694549 PMID:26961874 PMID:28492532 NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545
JBrowse link
G Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:16352453 PMID:24033266 PMID:25741868 PMID:27532257 PMID:28492532 NCBI chr 1:104,147,205...104,166,389
Ensembl chr 1:104,147,206...104,166,367
JBrowse link
G Ctf1 cardiotrophin 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:11058912 PMID:24033266 PMID:28492532 NCBI chr 1:199,162,319...199,168,296
Ensembl chr 1:199,163,086...199,168,296
JBrowse link
G Ctnna3 catenin alpha 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:28492532 NCBI chr20:25,063,124...26,640,428
Ensembl chr20:26,516,836...26,589,209
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:17221859 PMID:18653338 PMID:19151983 PMID:20171226 PMID:20423733 PMID:20448486 PMID:22106715 PMID:22153487 PMID:22403400 PMID:23349452 PMID:24033266 PMID:25557463 PMID:26467025 PMID:27854218 PMID:28492532 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar NCBI chr10:56,625,845...56,655,543
Ensembl chr10:56,627,411...56,653,599
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:72,874,131...72,882,867
Ensembl chr 1:72,874,404...72,883,002
JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:7971964 PMID:17033975 PMID:20031616 PMID:20031617 PMID:20197793 PMID:20400443 PMID:20716751 PMID:20829228 PMID:21062920 PMID:21606390 PMID:21606396 PMID:21859740 PMID:23299917 PMID:23757202 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24967631 PMID:25351510 PMID:25447171 PMID:25637381 PMID:25741868 PMID:28255936 PMID:28492532 NCBI chr18:11,826,705...11,858,801
Ensembl chr18:11,826,706...11,858,754
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:17105751 PMID:18678517 PMID:19039334 PMID:20031616 PMID:20031617 PMID:20716751 PMID:20864495 PMID:21606390 PMID:21606396 PMID:23810883 PMID:23861362 PMID:24033266 PMID:24055113 PMID:25741868 PMID:28492532 NCBI chr18:15,579,322...15,637,720
Ensembl chr18:15,579,315...15,637,715
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:18632414 PMID:19924139 PMID:20738328 PMID:23381804 PMID:23861362 PMID:23911551 PMID:24033266 PMID:24125834 PMID:24503780 PMID:24704780 PMID:25225338 PMID:25351510 PMID:25693453 PMID:25741868 PMID:26585738 PMID:28492532 PMID:30354334 PMID:31264976 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Dtna dystrobrevin, alpha ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:28492532 NCBI chr18:14,544,725...14,671,514
Ensembl chr18:14,471,213...14,657,332
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr  X:156,452,847...156,455,858
Ensembl chr  X:156,452,818...156,456,035
JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar NCBI chr 1:23,237,617...23,611,580
Ensembl chr 1:23,409,408...23,610,164
JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:25246303 PMID:26857240 PMID:28492532 NCBI chr  X:159,112,516...159,172,528
Ensembl chr  X:159,112,880...159,172,524
JBrowse link
G Fhl2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar NCBI chr 9:49,920,611...49,994,906
Ensembl chr 9:49,920,854...49,950,093
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:56,710,934...56,738,779
Ensembl chr 4:56,711,049...56,738,791
JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:2171331 PMID:8738659 PMID:9100224 PMID:9395081 PMID:9883849 PMID:10208848 PMID:10838196 PMID:10916280 PMID:11322659 PMID:11668641 PMID:11688386 PMID:12428061 PMID:15702404 PMID:15806320 PMID:16533976 PMID:16595074 PMID:16773563 PMID:17040996 PMID:17532296 PMID:17804462 PMID:18154965 PMID:18596132 PMID:20031620 PMID:20360539 PMID:20505683 PMID:21549080 PMID:21598360 PMID:22241068 PMID:22805550 PMID:23219219 PMID:23378663 PMID:23430526 PMID:23935525 PMID:24033266 PMID:24082139 PMID:24380807 PMID:24386359 PMID:24784157 PMID:25040344 PMID:25382311 PMID:25611685 PMID:25741868 PMID:27142856 PMID:27356758 PMID:27560961 PMID:27832731 PMID:27979989 PMID:28492532 PMID:28799081 PMID:29867742 PMID:29982630 PMID:31996269 PMID:32011328 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1-like ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:15140536 PMID:17967976 PMID:19606473 PMID:19815826 PMID:22995991 PMID:23465283 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24715918 PMID:25741868 PMID:25998140 PMID:28492532 PMID:28837624 NCBI chr 8:122,957,570...122,987,236
Ensembl chr 8:122,954,948...122,987,191
JBrowse link
G Ilk integrin-linked kinase ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:29915097 NCBI chr 1:170,578,941...170,585,192
Ensembl chr 1:170,578,889...170,585,189
JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:159,709,998...159,776,536
Ensembl chr 3:159,712,325...159,775,643
JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:21859740 PMID:23861362 PMID:24033266 PMID:25741868 PMID:27662471 PMID:28492532 PMID:28831623 NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:15368194 PMID:16487223 PMID:22581653 PMID:24681347 PMID:25741868 PMID:28492532 NCBI chr11:32,434,786...32,447,264
Ensembl chr11:32,440,237...32,447,259
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:11222472 PMID:11468227 PMID:11668638 PMID:14998624 PMID:22581653 PMID:24606995 PMID:25417810 PMID:25741868 PMID:28492532 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar PMID:24033266 NCBI chr  X:124,722,628...124,766,079
Ensembl chr  X:124,722,628...124,766,044
JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:25741868 PMID:28492532 PMID:29247119 PMID:31333075 PMID:31568572 NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:8621584 PMID:12057196 PMID:16407522 PMID:16585054 PMID:18414213 PMID:18714801 PMID:19589617 PMID:20627339 PMID:21535365 PMID:22071332 PMID:23142632 PMID:24033266 PMID:24375749 PMID:24503780 PMID:24846508 PMID:25525159 PMID:25741868 PMID:27532257 PMID:28492532 PMID:28518168 PMID:28663758 PMID:28679633 PMID:29095976 PMID:29237690 PMID:31333075 PMID:31568572 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Mib1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar NCBI chr18:1,970,914...2,094,920
Ensembl chr18:1,970,914...2,094,920
JBrowse link
G Mybpc3 myosin binding protein C3 ISO DNA:nonsense mutations: :multiple
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
DNA:nonsense mutation, splice-site mutation, deletion:exon, intron:multiple
DNA:missense mutations: :p.V771M, p.V342D, p.A627V (human)
DNA:missense mutations, nonsense mutations: :multiple
ClinVar
CTD
PMID:1853307 PMID:2073894 PMID:2732257 PMID:2943217 PMID:7493025 PMID:7493026 PMID:9048664 PMID:9241277 PMID:9503187 PMID:9562578 PMID:9631872 PMID:9742053 PMID:10521296 PMID:10610770 PMID:10736283 PMID:11499718 PMID:11499719 PMID:11748309 PMID:11815426 PMID:11847170 PMID:12110947 PMID:12117842 PMID:12202917 PMID:12386147 PMID:12403824 PMID:12566107 PMID:12628722 PMID:12707239 PMID:12788380 PMID:12818575 PMID:12951062 PMID:12974739 PMID:14563344 PMID:15010274 PMID:15114369 PMID:15115610 PMID:15166115 PMID:15519027 PMID:15563892 PMID:15769446 PMID:15823648 PMID:15936968 PMID:16004897 PMID:16181148 PMID:16199542 PMID:16267253 PMID:16335287 PMID:16566405 PMID:16651346 PMID:16679492 PMID:16715312 PMID:16754800 PMID:16831826 PMID:16858239 PMID:17081393 PMID:17560888 PMID:17908752 PMID:18258667 PMID:18273486 PMID:18374358 PMID:18400036 PMID:18403758 PMID:18409188 PMID:18414213 PMID:18533079 PMID:18713777 PMID:18761664 PMID:18809796 PMID:18926831 PMID:18929575 PMID:18957093 PMID:19035361 PMID:19150014 PMID:19151713 PMID:19273718 PMID:19293840 PMID:19356534 PMID:19574547 PMID:19590044 PMID:19659763 PMID:19808356 PMID:19996403 PMID:20019025 PMID:20031602 PMID:20031618 PMID:20045868 PMID:20051424 PMID:20128375 PMID:20159828 PMID:20173211 PMID:20201939 PMID:20215591 PMID:20298698 PMID:20359594 PMID:20378854 PMID:20414521 PMID:20433692 PMID:20435227 PMID:20439259 PMID:20474083 PMID:20505798 PMID:20530761 PMID:20624503 PMID:20738943 PMID:20800588 PMID:20818890 PMID:20864638 PMID:21088121 PMID:21185001 PMID:21239446 PMID:21252143 PMID:21297165 PMID:21302287 PMID:21310275 PMID:21415409 PMID:21424860 PMID:21472310 PMID:21488259 PMID:21488307 PMID:21499742 PMID:21511876 PMID:21551322 PMID:21638988 PMID:21750094 PMID:21817903 PMID:21832025 PMID:21832052 PMID:21835320 PMID:21839045 PMID:21915287 PMID:21943931 PMID:21959974 PMID:21985754 PMID:22057632 PMID:22115648 PMID:22173300 PMID:22177269 PMID:22194935 PMID:22267749 PMID:22337857 PMID:22361390 PMID:22386539 PMID:22429680 PMID:22455086 PMID:22462493 PMID:22464770 PMID:22555271 PMID:22560514 PMID:22563033 PMID:22569109 PMID:22574137 PMID:22589294 PMID:22763267 PMID:22765922 PMID:22857948 PMID:22907696 PMID:22958901 PMID:22995991 PMID:23054336 PMID:23074333 PMID:23140321 PMID:23164068 PMID:23197398 PMID:23217326 PMID:23233322 PMID:23283745 PMID:23299917 PMID:23348723 PMID:23349452 PMID:23396983 PMID:23418287 PMID:23527136 PMID:23534983 PMID:23549607 PMID:23642604 PMID:23674513 PMID:23690394 PMID:23711808 PMID:23782526 PMID:23820649 PMID:23840593 PMID:23861362 PMID:23896226 PMID:23980194 PMID:24033266 PMID:24055113 PMID:24062880 PMID:24083979 PMID:24093860 PMID:24111713 PMID:24113344 PMID:24119082 PMID:24327208 PMID:24503780 PMID:24510615 PMID:24602869 PMID:24621997 PMID:24704860 PMID:24721642 PMID:24774285 PMID:24774606 PMID:24793961 PMID:24795128 PMID:24810389 PMID:24835277 PMID:24865491 PMID:25031304 PMID:25037680 PMID:25058872 PMID:25078086 PMID:25086479 PMID:25127965 PMID:25163546 PMID:25210889 PMID:25214167 PMID:25262865 PMID:25335496 PMID:25342278 PMID:25351510 PMID:25377941 PMID:25443708 PMID:25447171 PMID:25524337 PMID:25525159 PMID:25558701 PMID:25569433 PMID:25583989 PMID:25611685 PMID:25631583 PMID:25637381 PMID:25740977 PMID:25741868 PMID:25741869 PMID:25971843 PMID:26090888 PMID:26178432 PMID:26189708 PMID:26223264 PMID:26267065 PMID:26332198 PMID:26332594 PMID:26383716 PMID:26458567 PMID:26467025 PMID:26654849 PMID:26671970 PMID:26688216 PMID:26822237 PMID:26899768 PMID:26914223 PMID:26936621 PMID:27066506 PMID:27096365 PMID:27108529 PMID:27112610 PMID:27153395 PMID:27194543 PMID:27267291 PMID:27418595 PMID:27435932 PMID:27483260 PMID:27532257 PMID:27561770 PMID:27576561 PMID:27600940 PMID:27618852 PMID:27620334 PMID:27650965 PMID:27688314 PMID:27737317 PMID:27831900 PMID:27834932 PMID:27841901 PMID:27885498 PMID:27896284 PMID:27930701 PMID:28024942 PMID:28074886 PMID:28087566 PMID:28138913 PMID:28166282 PMID:28193612 PMID:28214152 PMID:28323875 PMID:28356264 PMID:28408708 PMID:28416588 PMID:28420666 PMID:28436997 PMID:28492532 PMID:28498465 PMID:28518168 PMID:28538763 PMID:28614222 PMID:28615295 PMID:28640247 PMID:28679633 PMID:28750076 PMID:28771489 PMID:28790153 PMID:28794111 PMID:28807990 PMID:28971120 PMID:29029073 PMID:29032884 PMID:29121657 PMID:29212898 PMID:29247119 PMID:29367541 PMID:29447731 PMID:29451820 PMID:29497013 PMID:29540445 PMID:29555771 PMID:29661763 PMID:29663722 PMID:29686099 PMID:29709087 PMID:29710196 PMID:29875314 PMID:29875424 PMID:29988065 PMID:30165862 PMID:30206291 PMID:30297972 PMID:30446606 PMID:30645170 PMID:30731207 PMID:30762279 PMID:30847666 PMID:30871747 PMID:30959811 PMID:30972196 PMID:31006259 PMID:31028938 PMID:31333075 PMID:31568572 PMID:32009526 PMID:397516074, PMID:9048664, PMID:12110947, PMID:16004897, PMID:9562578 RGD:1580239, RGD:1580237, RGD:1580234, RGD:1580238 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar
CTD
PMID:11815426 PMID:15998695 PMID:20215591 PMID:20656787 PMID:22011241 PMID:22194935 PMID:22361390 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24082139 PMID:24119082 PMID:25351510 PMID:25467552 PMID:25500235 PMID:25741868 PMID:25931334 PMID:26085007 PMID:26656175 PMID:27194543 PMID:27650965 PMID:27760138 PMID:27789736 PMID:28074886 PMID:28088328 PMID:28416588 PMID:28492532 PMID:29511324 PMID:30775854, PMID:8614836 RGD:11065341 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Primary familial Hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar
CTD
PMID:1423936 PMID:1430197 PMID:1552912 PMID:1634614 PMID:1638703 PMID:1739523 PMID:1975517 PMID:1975599 PMID:2249844 PMID:7581410 PMID:7731997 PMID:7788887 PMID:7789380 PMID:7796500 PMID:7848441 PMID:7874131 PMID:7883988 PMID:7994801 PMID:8250038 PMID:8281650 PMID:8282798 PMID:8335820 PMID:8435239 PMID:8483915 PMID:8514894 PMID:8533830 PMID:8614836 PMID:8655135 PMID:8788376 PMID:8898372 PMID:8981935 PMID:9001794 PMID:9058851 PMID:9062359 PMID:9105042 PMID:9140839 PMID:9154300 PMID:9172070 PMID:9271024 PMID:9541509 PMID:9544842 PMID:9822100 PMID:9826622 PMID:9829907 PMID:9835779 PMID:10024460 PMID:10086390 PMID:10328076 PMID:10521296 PMID:10567705 PMID:10606622 PMID:10662815 PMID:10725281 PMID:10750581 PMID:10764406 PMID:10862102 PMID:10874840 PMID:10882745 PMID:10957787 PMID:11113006 PMID:11133230 PMID:11186938 PMID:11227787 PMID:11377367 PMID:11424919 PMID:11433818 PMID:11447480 PMID:11498078 PMID:11723028 PMID:11861410 PMID:11861413 PMID:11904418 PMID:12081993 PMID:12084606 PMID:12117842 PMID:12473556 PMID:12566107 PMID:12601548 PMID:12707239 PMID:12820698 PMID:12881443 PMID:12951062 PMID:12953063 PMID:12974739 PMID:12975413 PMID:13732753 PMID:14656445 PMID:15000344 PMID:15001446 PMID:15008060 PMID:15136674 PMID:15358028 PMID:15483641 PMID:15519027 PMID:15528230 PMID:15550524 PMID:15556047 PMID:15563892 PMID:15757018 PMID:15856146 PMID:15858117 PMID:16115294 PMID:16137545 PMID:16199542 PMID:16253604 PMID:16267253 PMID:16335287 PMID:16352453 PMID:16504640 PMID:16630450 PMID:16650083 PMID:16715312 PMID:16858239 PMID:16918501 PMID:17097032 PMID:17125710 PMID:17180650 PMID:17192269 PMID:17351073 PMID:17383184 PMID:17438619 PMID:17476457 PMID:17495353 PMID:17502101 PMID:17560888 PMID:17599605 PMID:17703256 PMID:17987111 PMID:18020371 PMID:18029407 PMID:18175163 PMID:18258667 PMID:18374998 PMID:18383048 PMID:18403758 PMID:18409188 PMID:18411228 PMID:18414213 PMID:18533079 PMID:18565996 PMID:18761664 PMID:18953637 PMID:19149795 PMID:19150014 PMID:19645038 PMID:19651039 PMID:19659763 PMID:19666645 PMID:19808356 PMID:19880069 PMID:20031602 PMID:20031618 PMID:20075948 PMID:20086309 PMID:20215591 PMID:20298698 PMID:20350521 PMID:20359594 PMID:20378854 PMID:20428263 PMID:20624503 PMID:20664766 PMID:20800588 PMID:20819418 PMID:20865685 PMID:20975235 PMID:21127202 PMID:21211974 PMID:21239280 PMID:21239446 PMID:21252143 PMID:21302287 PMID:21310275 PMID:21425739 PMID:21511876 PMID:21576279 PMID:21642240 PMID:21674835 PMID:21750094 PMID:21769673 PMID:21799269 PMID:21817903 PMID:21835320 PMID:21839045 PMID:21896538 PMID:21959974 PMID:22112859 PMID:22213221 PMID:22260945 PMID:22267749 PMID:22429680 PMID:22455086 PMID:22735528 PMID:22763267 PMID:22765922 PMID:22857948 PMID:22958901 PMID:23054336 PMID:23074333 PMID:23140321 PMID:23197161 PMID:23233322 PMID:23271734 PMID:23283745 PMID:23290139 PMID:23299917 PMID:23318932 PMID:23349452 PMID:23396983 PMID:23403236 PMID:23408646 PMID:23508784 PMID:23580644 PMID:23674513 PMID:23690394 PMID:23711808 PMID:23712688 PMID:23751935 PMID:23782526 PMID:23785128 PMID:23794396 PMID:23798412 PMID:23816408 PMID:23861362 PMID:23896226 PMID:24033266 PMID:24047955 PMID:24093860 PMID:24111713 PMID:24183960 PMID:24268868 PMID:24344137 PMID:24498601 PMID:24510615 PMID:24621997 PMID:24704860 PMID:24793961 PMID:24829265 PMID:24835277 PMID:24888384 PMID:24928957 PMID:25031304 PMID:25078086 PMID:25086479 PMID:25132132 PMID:25239116 PMID:25326637 PMID:25342278 PMID:25346696 PMID:25351510 PMID:25467552 PMID:25524337 PMID:25558701 PMID:25569433 PMID:25611685 PMID:25637381 PMID:25714468 PMID:25741868 PMID:25892673 PMID:25935763 PMID:25937619 PMID:25961035 PMID:26187847 PMID:26246073 PMID:26332594 PMID:26458567 PMID:26467025 PMID:26573135 PMID:26627873 PMID:26743238 PMID:26912705 PMID:26914223 PMID:26936621 PMID:26969127 PMID:26969327 PMID:27000522 PMID:27066507 PMID:27082122 PMID:27153395 PMID:27161364 PMID:27247418 PMID:27387980 PMID:27460395 PMID:27483260 PMID:27532257 PMID:27574918 PMID:27688314 PMID:27707468 PMID:27737317 PMID:27831900 PMID:27841901 PMID:27930701 PMID:27974200 PMID:28087426 PMID:28138913 PMID:28193612 PMID:28202948 PMID:28241245 PMID:28296734 PMID:28356264 PMID:28408708 PMID:28420666 PMID:28481356 PMID:28492532 PMID:28518168 PMID:28606303 PMID:28611029 PMID:28615295 PMID:28640247 PMID:28687478 PMID:28704380 PMID:28771489 PMID:28790153 PMID:28794111 PMID:28798025 PMID:28971120 PMID:29029073 PMID:29101517 PMID:29121657 PMID:29169752 PMID:29300372 PMID:29343710 PMID:29661763 PMID:29709087 PMID:29875424 PMID:29907873 PMID:30022097 PMID:30206291 PMID:30217213 PMID:30275503 PMID:30297972 PMID:30531895 PMID:30623132 PMID:30775854 PMID:30871747 PMID:31006259 PMID:31112422 PMID:31308319 PMID:31333075 PMID:31493341 PMID:31568572 PMID:31638223 PMID:31722741 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
DNA:missense mutations, splice-site mutation:exon, intron:multiple
DNA:missense mutations:exon:p.F18L, p.R58Q (human)
ClinVar
CTD
PMID:8673105 PMID:9241277 PMID:09535554 PMID:11102452 PMID:11748309 PMID:12404107 PMID:12668451 PMID:12707239 PMID:12818575 PMID:14594949 PMID:15483641 PMID:15706574 PMID:16837010 PMID:18506004 PMID:18533079 PMID:18929571 PMID:19150977 PMID:20173211 PMID:20855589 PMID:21310275 PMID:21415409 PMID:21723297 PMID:21835320 PMID:22091967 PMID:22260945 PMID:22797899 PMID:22958901 PMID:23197161 PMID:23283745 PMID:23299917 PMID:23343568 PMID:23396983 PMID:23727233 PMID:23785128 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24111713 PMID:24793961 PMID:24842367 PMID:25324513 PMID:25333069 PMID:25351510 PMID:25524337 PMID:25637381 PMID:25741868 PMID:26116789 PMID:26187847 PMID:26284228 PMID:26664906 PMID:26914223 PMID:27153395 PMID:27435932 PMID:27483260 PMID:27532257 PMID:27600940 PMID:28223422 PMID:28467684 PMID:28492532 PMID:28518168 PMID:28771489 PMID:29398688 PMID:29452157 PMID:29710196 PMID:30403391 PMID:30430732 PMID:31019283, PMID:11748309, PMID:9535554 RGD:1580241, RGD:1580240 NCBI chr12:39,951,863...39,959,065
Ensembl chr12:39,951,987...39,958,239
JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:8673105 PMID:11174330 PMID:12021217 PMID:16754800 PMID:20641121 PMID:21239446 PMID:21823217 PMID:22131351 PMID:22957257 PMID:22958901 PMID:23283745 PMID:23396983 PMID:23426552 PMID:23549607 PMID:23594557 PMID:23748425 PMID:24033266 PMID:24111713 PMID:25132132 PMID:25342278 PMID:25351510 PMID:25611685 PMID:25637381 PMID:25741868 PMID:25910212 PMID:26633542 PMID:27483260 PMID:27532257 PMID:27574918 PMID:28356264 PMID:28371863 PMID:28492532 PMID:28518168 PMID:28658286 PMID:28771489 PMID:28971120 PMID:29669825 PMID:29710196 PMID:29914921 PMID:30297972 PMID:30706179 PMID:31110529 PMID:31199839 NCBI chr 8:119,030,852...119,036,996
Ensembl chr 8:119,030,875...119,036,996
JBrowse link
G Myl9 myosin light chain 9 ISO RGD PMID:16076902 RGD:1582589 NCBI chr 3:152,857,573...152,863,961
Ensembl chr 3:152,857,592...152,863,960
JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar NCBI chr 3:148,386,185...148,397,851
Ensembl chr 3:148,386,189...148,399,501
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:24033266 PMID:28492532 NCBI chr 9:119,353,840...119,469,196
Ensembl chr 9:119,353,840...119,468,715
JBrowse link
G Myoz2 myozenin 2 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr 2:227,180,887...227,207,629
Ensembl chr 2:227,180,886...227,207,635
JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:18006477 PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr20:26,988,820...27,074,106
Ensembl chr20:26,988,774...27,074,138
JBrowse link
G Nebl nebulette ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:84,141,014...84,247,038
Ensembl chr17:84,140,489...84,488,601
JBrowse link
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:20970104 PMID:24033266 PMID:24503780 PMID:25741868 PMID:27532257 PMID:28492532 PMID:28798025 NCBI chr 2:257,452,937...257,484,607
Ensembl chr 2:257,453,347...257,484,587
JBrowse link
G Pdlim3 PDZ and LIM domain 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar NCBI chr16:49,543,140...49,574,362
Ensembl chr16:49,543,142...49,574,390
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:19955750 PMID:20031616 PMID:20031617 PMID:20152563 PMID:20857253 PMID:21062920 PMID:21606390 PMID:22170284 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24352520 PMID:25395996 PMID:25741868 PMID:26676851 PMID:28341588 PMID:28492532 PMID:31539150 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr 5:171,662,277...171,711,561
Ensembl chr 5:171,662,277...171,710,316
JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:10355918 PMID:10820940 PMID:11407343 PMID:11827995 PMID:14722619 PMID:15611370 PMID:15673802 PMID:16836667 PMID:17483151 PMID:17711718 PMID:19808419 PMID:20031621 PMID:20381067 PMID:20888928 PMID:23778007 PMID:23829931 PMID:23992123 PMID:24033266 PMID:25741868 PMID:25997934 PMID:27532257 PMID:28341588 PMID:28431061 PMID:28492532 PMID:28917552 PMID:29298659 NCBI chr 4:6,559,153...6,799,888
Ensembl chr 4:6,559,545...6,799,632
JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:12077328 PMID:17603482 PMID:17603483 PMID:17603486 PMID:17603487 PMID:20052757 PMID:20679480 PMID:20683980 PMID:21784453 PMID:22465605 PMID:22781091 PMID:23737487 PMID:23885229 PMID:24033266 PMID:24803665 PMID:25741868 PMID:26266034 PMID:26580448 PMID:28492532 PMID:28750076 PMID:29493581 NCBI chr 4:147,532,040...147,592,769
Ensembl chr 4:147,532,042...147,592,699
JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:274,391,932...274,589,816
Ensembl chr 1:274,391,932...274,589,816
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar PMID:23861362 PMID:24033266 PMID:25163546 PMID:25650408 PMID:25741868 PMID:26656175 PMID:27054166 PMID:27930701 PMID:28492532 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:8661019 PMID:10690282 PMID:10727653 PMID:11823453 PMID:12639704 PMID:15121794 PMID:15689442 PMID:15851227 PMID:15851440 PMID:15992732 PMID:16155735 PMID:16568155 PMID:16707561 PMID:17210839 PMID:17605181 PMID:17905336 PMID:18245395 PMID:18378609 PMID:18976777 PMID:19251209 PMID:19412328 PMID:19841300 PMID:20110800 PMID:20129283 PMID:20486126 PMID:20981092 PMID:22378279 PMID:22519808 PMID:22581653 PMID:22682427 PMID:22840528 PMID:23174487 PMID:23321620 PMID:23414114 PMID:23465283 PMID:23853484 PMID:23861362 PMID:24033266 PMID:24529773 PMID:24573164 PMID:24784157 PMID:24795344 PMID:25051102 PMID:25172307 PMID:25650408 PMID:25741868 PMID:25748040 PMID:26111534 PMID:26131924 PMID:26159999 PMID:26467025 PMID:27153395 PMID:27281089 PMID:27554632 PMID:28472724 PMID:28491758 PMID:28492532 PMID:28493952 PMID:28498465 PMID:28638671 PMID:28798025 PMID:29672598 PMID:29997009 PMID:30079003 PMID:30146492 PMID:30419068 PMID:31333075 PMID:31568572 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar NCBI chr 1:274,700,621...274,751,195
Ensembl chr 1:274,688,580...274,751,816
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic ClinVar PMID:24033266 NCBI chr 6:3,105,443...3,182,977
Ensembl chr 6:3,104,861...3,182,996
JBrowse link
G Taf10 TATA-box binding protein associated factor 10 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:28492532 PMID:29915097 NCBI chr 1:170,585,160...170,586,428
Ensembl chr 1:170,585,167...170,586,603
JBrowse link
G Taz tafazzin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr  X:156,421,006...156,429,461
Ensembl chr  X:156,421,009...156,428,593
JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Hereditary ventricular hypertrophy
ClinVar PMID:16911908 PMID:18414213 PMID:18585512 PMID:19035361 PMID:19412328 PMID:20215591 PMID:20474083 PMID:22194935 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24037902 PMID:24503780 PMID:25741868 PMID:26084686 PMID:26332198 PMID:26350513 PMID:26467025 PMID:27532257 PMID:28492532 PMID:30871747 PMID:31303467 NCBI chr10:86,337,705...86,338,414
Ensembl chr10:86,337,728...86,338,411
JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr 4:123,118,468...123,133,610
Ensembl chr 4:123,118,468...123,133,609
JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:28492532 NCBI chr 7:31,847,412...31,872,416
Ensembl chr 7:31,847,410...31,872,423
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:3144325 PMID:9241277 PMID:10098965 PMID:10806205 PMID:11735257 PMID:11801593 PMID:11815426 PMID:12531876 PMID:12707239 PMID:12860912 PMID:15070570 PMID:15201162 PMID:15524171 PMID:15607392 PMID:15631686 PMID:15698845 PMID:15961398 PMID:15992656 PMID:16020591 PMID:16199542 PMID:16335287 PMID:16352453 PMID:16531415 PMID:17027633 PMID:17463320 PMID:18408133 PMID:18423659 PMID:19033660 PMID:19289050 PMID:19449150 PMID:19645627 PMID:19754353 PMID:19914256 PMID:20161772 PMID:20350521 PMID:20624503 PMID:20641121 PMID:20800588 PMID:21239446 PMID:21310275 PMID:21511876 PMID:21533915 PMID:21799269 PMID:21839045 PMID:21896538 PMID:21967901 PMID:22112859 PMID:22301726 PMID:22429680 PMID:22675533 PMID:22876777 PMID:23270746 PMID:23283745 PMID:23396983 PMID:23540544 PMID:23610579 PMID:23906401 PMID:23967088 PMID:24033266 PMID:24111713 PMID:24113344 PMID:24474965 PMID:24510615 PMID:24704860 PMID:25132132 PMID:25228707 PMID:25239116 PMID:25342278 PMID:25351510 PMID:25440410 PMID:25524337 PMID:25558701 PMID:25611685 PMID:25741868 PMID:25940119 PMID:26169204 PMID:26506446 PMID:26741492 PMID:26914223 PMID:27532257 PMID:27600940 PMID:28138913 PMID:28166811 PMID:28193612 PMID:28356264 PMID:28492532 PMID:28771489 PMID:28790153 PMID:30384889 PMID:31006259 PMID:31333075 PMID:31534214 PMID:31568572 PMID:31877599 NCBI chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
JBrowse link
G Tnnt1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:72,889,270...72,899,629
Ensembl chr 1:72,889,270...72,899,659
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar
CTD
PMID:2946667 PMID:7898523 PMID:8205619 PMID:8951566 PMID:9060892 PMID:9140840 PMID:9201030 PMID:9241277 PMID:10085122 PMID:10405326 PMID:10467159 PMID:10497196 PMID:10521296 PMID:10525521 PMID:10610467 PMID:10617660 PMID:10978365 PMID:11346248 PMID:11432788 PMID:11560853 PMID:11606294 PMID:11968089 PMID:12084606 PMID:12409295 PMID:12600890 PMID:12707239 PMID:12818575 PMID:12860912 PMID:12881443 PMID:14563299 PMID:14636924 PMID:14640471 PMID:14654368 PMID:14722098 PMID:15246915 PMID:15519027 PMID:15542288 PMID:15631686 PMID:15958377 PMID:16115294 PMID:16115869 PMID:16199542 PMID:16326803 PMID:16715312 PMID:16754800 PMID:16777946 PMID:16858239 PMID:17101185 PMID:17612745 PMID:18029407 PMID:18403758 PMID:18533079 PMID:19033660 PMID:19035361 PMID:19150014 PMID:19275886 PMID:19412328 PMID:19645627 PMID:19880069 PMID:19914256 PMID:20031601 PMID:20031602 PMID:20031618 PMID:20038417 PMID:20215591 PMID:20414521 PMID:20439259 PMID:20530761 PMID:20624503 PMID:20800588 PMID:21310275 PMID:21483645 PMID:21511876 PMID:21683708 PMID:21846512 PMID:22017532 PMID:22112859 PMID:22144547 PMID:22321274 PMID:22334656 PMID:22455086 PMID:22500102 PMID:22579624 PMID:22857948 PMID:22958901 PMID:23074333 PMID:23233322 PMID:23283745 PMID:23299917 PMID:23396983 PMID:23494605 PMID:23674365 PMID:23711808 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24111713 PMID:24418317 PMID:24503780 PMID:24721642 PMID:25086479 PMID:25351510 PMID:25524337 PMID:25611685 PMID:25637381 PMID:25668678 PMID:25741868 PMID:26183555 PMID:26468400 PMID:26507537 PMID:26633542 PMID:26656175 PMID:26681313 PMID:26688388 PMID:26743238 PMID:26914223 PMID:27022107 PMID:27074551 PMID:27082122 PMID:27483260 PMID:27493864 PMID:27532257 PMID:27600940 PMID:27930701 PMID:28193612 PMID:28356264 PMID:28492532 PMID:28771489 PMID:28790153 PMID:28973083 PMID:29121657 PMID:29661763 PMID:29907873 PMID:30165862 PMID:30762279 PMID:30972196 PMID:31006259 PMID:31019283 PMID:31323898, PMID:7898523 RGD:1559062 NCBI chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar
CTD
PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 PMID:09060904 PMID:9241277 PMID:9245729 PMID:09440709 PMID:09822100 PMID:10400910 PMID:10900175 PMID:11606294 PMID:11968089 PMID:12473556 PMID:12858563 PMID:12860912 PMID:14734051 PMID:15000344 PMID:15519027 PMID:16014439 PMID:16365313 PMID:16504640 PMID:18403758 PMID:18409188 PMID:18414213 PMID:18533079 PMID:19035361 PMID:20031602 PMID:20965760 PMID:21295541 PMID:21310275 PMID:21320446 PMID:21376702 PMID:21551322 PMID:21835320 PMID:22112859 PMID:22155441 PMID:22187526 PMID:22462493 PMID:22789852 PMID:22794249 PMID:23204897 PMID:23396983 PMID:23508784 PMID:23700264 PMID:23771913 PMID:24033266 PMID:24510615 PMID:25241052 PMID:25524337 PMID:25548289 PMID:25607779 PMID:25611685 PMID:25741868 PMID:26936621 PMID:26960954 PMID:27376658 PMID:27532257 PMID:27600940 PMID:27639548 PMID:28138913 PMID:28492532 PMID:29121657 PMID:29760186 PMID:30165862 PMID:30240712 PMID:31308319, PMID:15000344 RGD:1580447 NCBI chr 8:72,814,737...72,841,496
Ensembl chr 8:72,814,740...72,842,228
JBrowse link
G Trim63 tripartite motif containing 63 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:22821932 PMID:24436435 PMID:25801283 PMID:28492532 NCBI chr 5:152,533,362...152,547,138
Ensembl chr 5:152,533,349...152,547,179
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic
ClinVar PMID:11846417 PMID:18414213 PMID:23396983 PMID:23861362 PMID:24033266 PMID:25589632 PMID:25741868 PMID:26467025 PMID:28045975 PMID:28492532 PMID:28750076 PMID:30724488 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:26537620 PMID:28492532 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, Hypertrophic, Familial
ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
ClinVar PMID:28492532 NCBI chr11:86,667,994...86,716,063
Ensembl chr11:86,667,997...86,716,254
JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy ClinVar PMID:20474083 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25351510 PMID:26656175 PMID:28492532 NCBI chr15:3,455,211...3,544,738
Ensembl chr15:3,455,211...3,544,702
JBrowse link
FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 19 ClinVar PMID:17655857 PMID:23861362 PMID:25163546 PMID:25741868 PMID:28492532 PMID:29988065 NCBI chr16:19,097,391...19,124,062
Ensembl chr16:19,097,391...19,124,062
JBrowse link
Familial Thoracic Aortic Aneurysm 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Familial Thoracic Aortic Aneurysm ClinVar NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:7870075 PMID:8653794 PMID:8723076 PMID:9399842 PMID:9837823 PMID:10633129 PMID:11524736 PMID:11748851 PMID:11826022 PMID:11933199 PMID:11992479 PMID:12938084 PMID:14695540 PMID:16222657 PMID:17418587 PMID:17618372 PMID:17627385 PMID:17657824 PMID:18435798 PMID:19161152 PMID:19293843 PMID:19618372 PMID:19863550 PMID:20082464 PMID:21542060 PMID:21895641 PMID:23506379 PMID:23577066 PMID:24033266 PMID:24793577 PMID:24941995 PMID:25101912 PMID:25326635 PMID:25637381 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25907466 PMID:25944730 PMID:26272055 PMID:26621581 PMID:26787436 PMID:27112580 PMID:27153395 PMID:27582083 PMID:28492532 PMID:28655553 PMID:28659821 PMID:29357934 PMID:30371227 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Foxe3 forkhead box E3 ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:26854927 PMID:28492532 NCBI chr 5:133,724,796...133,725,656
Ensembl chr 5:133,724,796...133,725,656
JBrowse link
G Lox lysyl oxidase ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:26838787 PMID:30675029 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm
ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 1
ClinVar PMID:7923625 PMID:10199307 PMID:10854329 PMID:14722581 PMID:16444274 PMID:17666408 PMID:17956658 PMID:20734336 PMID:22511748 PMID:22968129 PMID:24033266 PMID:24337657 PMID:24676022 PMID:25407000 PMID:25424711 PMID:25433566 PMID:25637381 PMID:25741868 PMID:26017485 PMID:26792327 PMID:27418595 PMID:27879251 PMID:28492532 PMID:29494672 PMID:29961567 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25637381 PMID:25741868 PMID:27879251 PMID:28492532 NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:25741868 PMID:28492532 NCBI chr10:860,513...904,624
Ensembl chr10:860,521...896,938
JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Familial Thoracic Aortic Aneurysm ClinVar NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
JBrowse link
G Srfbp1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Familial thoracic aortic aneurysm ClinVar PMID:26838787 NCBI chr18:47,456,406...47,478,967
Ensembl chr18:47,456,327...47,480,587
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Familial Thoracic Aortic Aneurysm
ClinVar Annotator: match by term: Familial thoracic aortic aneurysm
ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 1
ClinVar PMID:8246946 PMID:11212236 PMID:16791849 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17344846 PMID:17935258 PMID:18781618 PMID:21524434 PMID:24033266 PMID:24055113 PMID:24793577 PMID:24941995 PMID:25203624 PMID:25637381 PMID:25741868 PMID:26017485 PMID:26133393 PMID:27930701 PMID:28492532 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
Familial Thoracic Aortic Aneurysm 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lox lysyl oxidase ISO ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 10
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10
ClinVar
OMIM
PMID:24033266 PMID:25741868 PMID:26838787 PMID:27432961 PMID:28492532 PMID:30675029 PMID:32860008 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
JBrowse link
G Srfbp1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 10
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10
ClinVar PMID:24033266 PMID:25741868 PMID:26838787 PMID:27432961 PMID:32860008 NCBI chr18:47,456,406...47,478,967
Ensembl chr18:47,456,327...47,480,587
JBrowse link
Familial Thoracic Aortic Aneurysm 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxe3 forkhead box E3 susceptibility ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 11, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:26854927 NCBI chr 5:133,724,796...133,725,656
Ensembl chr 5:133,724,796...133,725,656
JBrowse link
Familial Thoracic Aortic Aneurysm 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:17994018 PMID:19409525 PMID:19639654 PMID:21212136 PMID:21248741 PMID:24020716 PMID:25644172 PMID:25741868 PMID:28492532 NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:28492532 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 ClinVar PMID:28492532 NCBI chr 3:162,182,156...162,194,610
Ensembl chr 3:162,181,974...162,194,804
JBrowse link
Familial Thoracic Aortic Aneurysm 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 NCBI chr10:549,537...672,235
Ensembl chr10:549,883...672,196
JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 NCBI chr 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
JBrowse link
G Bmerb1 bMERB domain containing 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 NCBI chr10:3,411,380...3,570,689
Ensembl chr10:3,411,380...3,570,688
JBrowse link
G Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 NCBI chr10:730,215...751,061
Ensembl chr10:730,247...751,061
JBrowse link
G Marf1 meiosis regulator and mRNA stability factor 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 NCBI chr10:908,806...953,481
Ensembl chr10:908,806...953,474
JBrowse link
G Mpv17l MPV17 mitochondrial inner membrane protein like ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 NCBI chr10:3,321,488...3,359,219
Ensembl chr10:3,321,476...3,357,470
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4
ClinVar Annotator: match by OMIM:132900
OMIM
ClinVar
PMID:7923625 PMID:10199307 PMID:10854329 PMID:11249915 PMID:14722581 PMID:16444274 PMID:17666408 PMID:17956658 PMID:18391202 PMID:18796164 PMID:20226094 PMID:20734336 PMID:21698135 PMID:21937134 PMID:22001912 PMID:22318994 PMID:22511748 PMID:22955375 PMID:22968129 PMID:23099432 PMID:23142374 PMID:23696586 PMID:24033266 PMID:24337657 PMID:24676022 PMID:25407000 PMID:25424711 PMID:25433566 PMID:25500235 PMID:25637381 PMID:25741868 PMID:25839328 PMID:26000489 PMID:26017485 PMID:26077850 PMID:26133393 PMID:26188975 PMID:26332594 PMID:26436109 PMID:26467025 PMID:26792327 PMID:27081537 PMID:27146836 PMID:27149842 PMID:27153395 PMID:27367753 PMID:27418595 PMID:27611364 PMID:27879251 PMID:27884122 PMID:28074631 PMID:28074886 PMID:28492532 PMID:28659821 PMID:28855619 PMID:29179725 PMID:29494672 PMID:29510914 PMID:29543232 PMID:29650765 PMID:29907982 PMID:29961567 PMID:32238909 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4
ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus
ClinVar PMID:16444274 PMID:18391202 PMID:20226094 PMID:21698135 PMID:21937134 PMID:22001912 PMID:22318994 PMID:23099432 PMID:23142374 PMID:24033266 PMID:25500235 PMID:25637381 PMID:25741868 PMID:26017485 PMID:26133393 PMID:26188975 PMID:26436109 PMID:26467025 PMID:27146836 PMID:27153395 PMID:27367753 PMID:27418595 PMID:27611364 PMID:27884122 PMID:28074631 PMID:28492532 PMID:28659821 PMID:29179725 PMID:29510914 PMID:29543232 PMID:29907982 PMID:32238909 NCBI chr10:860,513...904,624
Ensembl chr10:860,521...896,938
JBrowse link
Familial Thoracic Aortic Aneurysm 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6
ClinVar Annotator: match by OMIM:611788
OMIM
ClinVar
PMID:10532176 PMID:13129918 PMID:14730227 PMID:15138499 PMID:15472996 PMID:17994018 PMID:19409525 PMID:19639654 PMID:20689142 PMID:20734336 PMID:20970362 PMID:21212136 PMID:21248741 PMID:21288906 PMID:21733706 PMID:21937134 PMID:22302747 PMID:22543189 PMID:22752479 PMID:22790431 PMID:22831780 PMID:22946110 PMID:23099432 PMID:23253043 PMID:23613326 PMID:24020716 PMID:24033266 PMID:24243736 PMID:24293535 PMID:24621862 PMID:24793577 PMID:24998021 PMID:25326635 PMID:25644172 PMID:25741868 PMID:25759435 PMID:25944730 PMID:26034244 PMID:26153420 PMID:26188975 PMID:26637293 PMID:27176728 PMID:27481187 PMID:27549731 PMID:27551047 PMID:27567161 PMID:27611364 PMID:28492532 PMID:28652363 PMID:28659821 PMID:28855619 PMID:29300374 PMID:29687370 PMID:29907982 PMID:30341550 NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
ClinVar PMID:25500235 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25500235 PMID:25637381 PMID:25741868 NCBI chr10:860,513...904,624
Ensembl chr10:860,521...896,938
JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:162,182,156...162,194,610
Ensembl chr 3:162,181,974...162,194,804
JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25741868 PMID:27879313 PMID:28492532 NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635
JBrowse link
Familial Thoracic Aortic Aneurysm 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7
ClinVar Annotator: match by OMIM:613780
OMIM
ClinVar
PMID:11096123 PMID:16399953 PMID:21055718 PMID:24033266 PMID:25326637 PMID:25333361 PMID:25637381 PMID:25741868 PMID:25944730 PMID:26017485 PMID:27146836 PMID:27153395 PMID:27586135 PMID:27879251 PMID:28254189 PMID:28401540 PMID:28492532 PMID:28512736 PMID:29350269 PMID:29543232 PMID:29544503 PMID:29907982 PMID:29961567 PMID:30056620 NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
JBrowse link
Familial Thoracic Aortic Aneurysm 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkg1 protein kinase cGMP-dependent 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8
ClinVar Annotator: match by OMIM:615436
OMIM
ClinVar
PMID:16646045 PMID:23910461 PMID:25741868 PMID:27442293 PMID:27879251 PMID:28492532 PMID:29510914 PMID:29907982 NCBI chr 1:248,982,039...250,300,952 JBrowse link
Familial Thoracic Aortic Aneurysm 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 9 OMIM
ClinVar
PMID:25434006 NCBI chr 4:155,313,671...155,336,228
Ensembl chr 4:155,313,671...155,336,228
JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:14970747 PMID:14994243 PMID:16326995 PMID:18924171 PMID:23643385 PMID:25741868 PMID:25959673 PMID:28492532 NCBI chr 7:130,326,597...130,343,655
Ensembl chr 7:130,326,600...130,342,493
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa5 cytochrome C oxidase assembly factor 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:44,011,471...44,024,876
Ensembl chr 9:44,011,471...44,024,876
JBrowse link
G Coa6 cytochrome c oxidase assembly factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:59,327,328...59,333,706
Ensembl chr19:59,328,960...59,331,192
JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:263,494,850...263,511,510
Ensembl chr 1:263,494,852...263,511,505
JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1 ClinVar PMID:23643385 PMID:25741868 PMID:28492532 NCBI chr 7:130,326,597...130,343,655
Ensembl chr 7:130,326,600...130,342,493
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO ClinVar Annotator: match by OMIM:615119
ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
ClinVar
OMIM
PMID:2175025 PMID:12474143 PMID:15235026 PMID:15863660 PMID:21412973 PMID:22310368 PMID:25741868 PMID:26959537 PMID:28492532 PMID:32232962 NCBI chr 1:263,494,850...263,511,510
Ensembl chr 1:263,494,852...263,511,505
JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa5 cytochrome C oxidase assembly factor 5 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 ClinVar
OMIM
PMID:21457908 NCBI chr 9:44,011,471...44,024,876
Ensembl chr 9:44,011,471...44,024,876
JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa6 cytochrome c oxidase assembly factor 6 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 ClinVar
OMIM
PMID:22277967 PMID:24549041 PMID:25339201 PMID:25959673 PMID:26160915 NCBI chr19:59,327,328...59,333,706
Ensembl chr19:59,328,960...59,331,192
JBrowse link
Hypertelorism and Tetralogy of Fallot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Hypertelorism and tetralogy of Fallot ClinVar PMID:25741868 NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
JBrowse link
hypertrophic cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr 4:176,806,098...176,928,540
Ensembl chr 4:176,805,431...176,922,424
JBrowse link
G Ace angiotensin I converting enzyme no_association ISO DNA:insertion/deletion:intron RGD PMID:9270088 RGD:1566491 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Ace2 angiotensin I converting enzyme 2 ISO mRNA, protein:increased expression:myocardium (human) RGD PMID:32448590 RGD:40818260 NCBI chr  X:32,050,734...32,095,860
Ensembl chr  X:32,049,931...32,096,016
JBrowse link
G Acp2 acid phosphatase 2, lysosomal ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:80,020,346...80,030,365
Ensembl chr 3:80,021,440...80,030,363
JBrowse link
G Actc1 actin, alpha, cardiac muscle 1 ISO ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
ClinVar PMID:10966831 PMID:12860912 PMID:14729850 PMID:15058760 PMID:16267253 PMID:16611632 PMID:17611253 PMID:17623677 PMID:17916152 PMID:17947298 PMID:18379140 PMID:18400036 PMID:18506004 PMID:18519860 PMID:18801786 PMID:19184181 PMID:19467449 PMID:19799913 PMID:20497191 PMID:20965760 PMID:21297463 PMID:21524215 PMID:21551322 PMID:21622575 PMID:21839045 PMID:22563033 PMID:24033266 PMID:24736382 PMID:25239116 PMID:25741868 PMID:27532257 PMID:28408708 PMID:28492532 PMID:28790153 NCBI chr 3:105,507,403...105,512,939
Ensembl chr 3:105,507,403...105,512,939
JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
ClinVar PMID:17097056 PMID:20022194 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24082139 PMID:25224718 PMID:25741868 PMID:26084686 PMID:27287556 PMID:27532257 PMID:28492532 NCBI chr17:66,304,530...66,397,647
Ensembl chr17:66,304,501...66,397,653
JBrowse link
G Adgrl4 adhesion G protein-coupled receptor L4 ISO protein:decreased expression:heart: RGD PMID:22606234 RGD:13838662 NCBI chr 2:256,609,787...256,724,642
Ensembl chr 2:256,609,787...256,724,641
JBrowse link
G Adm adrenomedullin IEP associated with Diabetes Mellitus, Experimental;protein:decreased expression:cardiomyocyte RGD PMID:17355819 RGD:1625294 NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
JBrowse link
G Agt angiotensinogen no_association
susceptibility
ISO DNA:polymorphisms: :p.T174M, p.M235T (human)
DNA:polymorphism:cds:p.M235T(human)
RGD PMID:9270088, PMID:9023164 RGD:1566491, RGD:13432163 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Akap6 A-kinase anchoring protein 6 ISO RGD PMID:24812305 RGD:11251930 NCBI chr 6:73,553,111...73,991,992
Ensembl chr 6:73,553,210...73,990,534
JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 4:27,195,346...27,331,582
Ensembl chr 4:27,195,346...27,331,582
JBrowse link
G Alpk3 alpha-kinase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:21441111 PMID:24033266 PMID:26846950 PMID:27106955 NCBI chr 1:142,882,997...142,931,940
Ensembl chr 1:142,883,040...142,931,940
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17242276 PMID:22581653 PMID:25741868 PMID:28492532 NCBI chr 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO DNA:missense mutations:exon:p.P52A, p.T123M, p.I280V (human)
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
ClinVar PMID:19608031 PMID:23299917 PMID:23572067 PMID:23861362 PMID:24033266 PMID:25089522 PMID:25741868 PMID:27143260 PMID:28492532 PMID:28672880, PMID:19608031 RGD:5133276 NCBI chr 1:254,726,985...254,745,673
Ensembl chr 1:254,726,969...254,735,548
JBrowse link
G Aph1b aph-1 homolog B, gamma secretase subunit ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 8:72,508,008...72,598,921
Ensembl chr 8:72,476,425...72,629,265
JBrowse link
G Arfgap2 ADP-ribosylation factor GTPase activating protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:80,081,541...80,093,659
Ensembl chr 3:80,081,647...80,093,658
JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:199,941,258...199,965,191
Ensembl chr 1:199,941,161...199,965,191
JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO
IEP
protein:decreased expression:heart
protein:decreased expression:cardiomyocyte
RGD PMID:25209900, PMID:25820375 RGD:11558015, RGD:13792650 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Becn1 beclin 1 ISO protein:increased expression:heart RGD PMID:25209900 RGD:11558015 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Ca12 carbonic anhydrase 12 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 8:72,405,770...72,461,425
Ensembl chr 8:72,405,748...72,460,240
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy
ClinVar PMID:20817017 PMID:22840528 PMID:23861362 PMID:24439875 PMID:25637381 PMID:25741868 PMID:26230511 PMID:26498160 PMID:28492532 NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 severity ISO DNA:missense mutation:cds:c.1598C>T (p.S533L)(human)
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
ClinVar PMID:23861362 PMID:25741868 PMID:28492532, PMID:28614222 RGD:13513985 NCBI chr17:81,673,862...82,019,219
Ensembl chr17:81,798,756...82,017,682
JBrowse link
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17655857 PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr16:19,097,391...19,124,062
Ensembl chr16:19,097,391...19,124,062
JBrowse link
G Capn2 calpain 2 IEP protein:increased expression, activity:nucleus RGD PMID:25820375 RGD:13792650 NCBI chr13:100,878,649...100,928,811
Ensembl chr13:100,878,650...100,928,811
JBrowse link
G Casp3 caspase 3 IEP associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:18192848 RGD:2293330 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Cav1 caveolin 1 ISS MouseDO NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Cav3 caveolin 3 ISO
ISS
ClinVar Annotator: match by term: Hypertrophic myocardiopathy, UMLS MESH term: Hypertrophic Obstructive Cardiomyopathy ClinVar
MouseDO
NCBI chr 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
JBrowse link
G Cd36 CD36 molecule IEP mRNA:increased expression:heart RGD PMID:19189074 RGD:2307222 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Celsr3 cadherin, EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr 8:117,620,293...117,648,034
Ensembl chr 8:117,620,317...117,648,028
JBrowse link
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 PMID:22137083 PMID:23861362 PMID:24033266 PMID:25611685 PMID:25741868 PMID:26535225 PMID:27532257 PMID:28492532 PMID:28600387 PMID:28790153 NCBI chr20:34,574,043...34,743,142
Ensembl chr20:34,575,950...34,684,418
JBrowse link
G Cma1 chymase 1 susceptibility ISO DNA:snp:5' utr:g.-1903G>A rs1800875 (human) RGD PMID:8759823 RGD:5128572 NCBI chr15:34,601,037...34,603,819
Ensembl chr15:34,601,037...34,603,819
JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO RGD PMID:12474143 RGD:1598468 NCBI chr 1:263,494,850...263,511,510
Ensembl chr 1:263,494,852...263,511,505
JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:1560021 PMID:16483541 PMID:16793013 PMID:17116488 PMID:20171888 PMID:21920752 PMID:22106715 PMID:22995991 PMID:23194663 PMID:23299917 PMID:24033266 PMID:25208129 PMID:25741868 PMID:26694549 PMID:26961874 PMID:28492532 NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545
JBrowse link
G Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar PMID:9039266 PMID:12507422 PMID:12642359 PMID:14567970 PMID:15781201 PMID:16352453 PMID:17084280 PMID:18505755 PMID:19035361 PMID:20044516 PMID:20474083 PMID:21425739 PMID:22337857 PMID:22429680 PMID:23299917 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24082139 PMID:25351510 PMID:25741868 PMID:26656175 PMID:27353086 PMID:27532257 PMID:28492532 PMID:28790153 PMID:30012424 PMID:30048712, PMID:12642359 RGD:1598499 NCBI chr 1:104,147,205...104,166,389
Ensembl chr 1:104,147,206...104,166,367
JBrowse link
G Ctf1 cardiotrophin 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:199,162,319...199,168,296
Ensembl chr 1:199,163,086...199,168,296
JBrowse link
G Ctnnb1 catenin beta 1 treatment ISO protein:increased phosphorylation:myocyte: RGD PMID:14993121 RGD:1598718 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Ctsl cathepsin L ISO RGD PMID:19096818 RGD:2315555 NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279
JBrowse link
G Ddb2 damage specific DNA binding protein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:80,030,437...80,052,984
Ensembl chr 3:80,030,437...80,052,953
JBrowse link
G Des desmin ISO RGD PMID:10591032 RGD:13525010 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19937601 PMID:19959795 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
ClinVar PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:72,874,131...72,882,867
Ensembl chr 1:72,874,404...72,883,002
JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:20031617 PMID:20152563 PMID:20400443 PMID:20716751 PMID:20857253 PMID:21606396 PMID:21636032 PMID:23861362 PMID:24033266 PMID:25741868 PMID:26498160 PMID:27930701 PMID:28492532 NCBI chr18:11,826,705...11,858,801
Ensembl chr18:11,826,706...11,858,754
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:20400443 PMID:21220045 PMID:23861362 PMID:24033266 PMID:24070718 PMID:24125834 PMID:25213555 PMID:25741868 PMID:27055156 PMID:28492532 PMID:28600387 NCBI chr18:15,579,322...15,637,720
Ensembl chr18:15,579,315...15,637,715
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar PMID:18632414 PMID:19863551 PMID:21062920 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21859740 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24125834 PMID:24503780 PMID:25741868 PMID:28492532, PMID:8944586 RGD:1580892 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Dtna dystrobrevin, alpha ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:25741868 NCBI chr18:14,544,725...14,671,514
Ensembl chr18:14,471,213...14,657,332
JBrowse link
G Edn1 endothelin 1 IEP associated with Diabetes Mellitus, Experimental; protein:increased secretion:serum (rat) RGD PMID:19000375 RGD:2302065 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 9:119,594,049...119,653,675
Ensembl chr 9:119,594,629...119,653,255
JBrowse link
G Etfdh electron transfer flavoprotein dehydrogenase ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 2:178,367,547...178,389,641
Ensembl chr 2:178,367,549...178,389,608
JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:23,237,617...23,611,580
Ensembl chr 1:23,409,408...23,610,164
JBrowse link
G Fasn fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr10:109,987,735...110,005,901
Ensembl chr10:109,987,735...110,005,901
JBrowse link
G Fbxl22 F-box and leucine-rich repeat protein 22 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 8:72,198,043...72,204,730
Ensembl chr 8:72,198,043...72,204,730
JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic ClinVar PMID:11583900 RGD:1580798 NCBI chr  X:159,112,516...159,172,528
Ensembl chr  X:159,112,880...159,172,524
JBrowse link
G Fhod3 formin homology 2 domain containing 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr18:16,650,786...17,332,209
Ensembl chr18:16,650,806...17,332,210
JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18414213 PMID:22037554 PMID:25741868 PMID:28492532 NCBI chr 5:70,522,001...70,578,270
Ensembl chr 5:70,528,688...70,578,273
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:56,710,934...56,738,779
Ensembl chr 4:56,711,049...56,738,791
JBrowse link
G Fxn frataxin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:15936968 PMID:25741868 NCBI chr 1:242,123,975...242,152,834
Ensembl chr 1:242,123,975...242,152,834
JBrowse link
G Gaa alpha glucosidase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
CTD
ClinVar
PMID:11328962 PMID:22644586 PMID:25741868 PMID:28492532 NCBI chr10:108,395,873...108,412,999
Ensembl chr10:108,395,860...108,413,059
JBrowse link
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr 2:199,162,745...199,184,942
Ensembl chr 2:199,162,745...199,184,939
JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:7504405 PMID:7911050 PMID:8395937 PMID:8411052 PMID:9452111 PMID:10208848 PMID:10666480 PMID:11531969 PMID:11668641 PMID:11914245 PMID:12175777 PMID:14635108 PMID:14680977 PMID:15003450 PMID:15091117 PMID:15702404 PMID:15712228 PMID:15806320 PMID:16232095 PMID:16754800 PMID:16773563 PMID:17555407 PMID:18057066 PMID:18154965 PMID:18297328 PMID:18849176 PMID:19373884 PMID:20110537 PMID:20122163 PMID:20360539 PMID:20464614 PMID:21062768 PMID:21092187 PMID:21229318 PMID:21517827 PMID:21598360 PMID:21683120 PMID:21972175 PMID:22226368 PMID:22682330 PMID:23219219 PMID:23332617 PMID:23393592 PMID:23430502 PMID:23568732 PMID:23677059 PMID:23818648 PMID:23935525 PMID:24033266 PMID:24386359 PMID:24582695 PMID:24829596 PMID:25078086 PMID:25468652 PMID:25611685 PMID:25637381 PMID:25741868 PMID:26047621 PMID:26384850 PMID:26415523 PMID:27532257 PMID:27832731 PMID:27979989 PMID:28492532 PMID:28943383 PMID:28988177 PMID:29018006 PMID:29621274 PMID:29649853 PMID:30023289 PMID:30386727 PMID:30477121 PMID:31020198 PMID:31996269 PMID:32042454 PMID:32435590 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1-like ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:15140536 PMID:17967976 PMID:19606473 PMID:19815826 PMID:22995991 PMID:23465283 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24715918 PMID:25741868 PMID:25998140 PMID:28492532 PMID:28837624 NCBI chr 8:122,957,570...122,987,236
Ensembl chr 8:122,954,948...122,987,191
JBrowse link
G Gpr149 G protein-coupled receptor 149 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr 2:152,838,836...152,912,027
Ensembl chr 2:152,839,117...152,911,553
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:25145518 PMID:25145519 PMID:25642760 PMID:25741868 PMID:26467025 PMID:27173043 PMID:27659478 PMID:28104484 PMID:28182231 PMID:28254189 PMID:28492532 NCBI chr 8:63,599,907...63,637,327
Ensembl chr 8:63,600,663...63,639,654
JBrowse link
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 8:72,029,550...72,198,363
Ensembl chr 8:72,029,489...72,198,358
JBrowse link
G Hey2 hes-related family bHLH transcription factor with YRPW motif 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20001863 NCBI chr 1:29,191,170...29,201,257
Ensembl chr 1:29,191,192...29,201,531
JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Htr2b 5-hydroxytryptamine receptor 2B ISS MouseDO NCBI chr 9:93,112,781...93,130,135
Ensembl chr 9:93,112,805...93,125,014
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP associated with Diabetes Mellitus, Experimental;protein:increased expression:heart left ventricle (rat) RGD PMID:20601373 RGD:4145536 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
JBrowse link
G Igf1 insulin-like growth factor 1 severity ISO RGD PMID:12135130 RGD:1598422 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO associated with Diabetes Mellitus;protein:decreased expression:placenta RGD PMID:16750336 RGD:2311505 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8660453 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Jph2 junctophilin 2 disease_progression ISO
IEP
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
protein:decreased expression:heart
ClinVar PMID:17476457 PMID:22584458 PMID:23757202 PMID:23834499 PMID:23861362 PMID:23973696 PMID:24033266 PMID:25333069 PMID:25741868 PMID:27532831 PMID:28087566 PMID:28254189 PMID:28393127 PMID:28492532 PMID:28771489, PMID:15541368, PMID:20576937 RGD:1580652, RGD:6480270 NCBI chr 3:159,709,998...159,776,536
Ensembl chr 3:159,712,325...159,775,643
JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
JBrowse link
G Kat8 lysine acetyltransferase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27768893 NCBI chr 1:199,360,645...199,372,925
Ensembl chr 1:199,360,645...199,372,923
JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr11:32,498,260...32,511,202
Ensembl chr11:32,498,261...32,508,420
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19716085 PMID:22581653 PMID:24033266 PMID:25637381 PMID:25741868 PMID:26332594 PMID:26467025 PMID:28492532 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr10:99,429,337...99,442,520
Ensembl chr10:99,437,436...99,439,114
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
JBrowse link
G Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19120683 PMID:20558321 PMID:22056721 PMID:22365152 PMID:22562657 PMID:22840528 PMID:23632791 PMID:24700710 PMID:25741868 PMID:28492532 NCBI chr 4:176,783,287...176,789,143
Ensembl chr 4:176,782,498...176,789,304
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19716085 PMID:22581653 PMID:23396983 PMID:24033266 PMID:24055113 PMID:25351510 PMID:25637381 PMID:25741868 PMID:26332594 PMID:28492532 PMID:28794082 PMID:29197658 PMID:30571187 NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
G Klhl41 kelch-like family member 41 ISO RGD PMID:11583900 RGD:1580798 NCBI chr 3:55,910,177...55,923,303
Ensembl chr 3:55,910,177...55,923,303
JBrowse link
G Lactb lactamase, beta ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 8:72,750,174...72,766,307
Ensembl chr 8:72,750,171...72,766,389
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO
IMP
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
in hemizygote mutant male (LAMP2y/-)
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar PMID:15673802 PMID:18282207 PMID:19533775 PMID:21415759 PMID:24033266 PMID:24503780 PMID:25458169 PMID:25741868 PMID:26748608 PMID:27532257 PMID:28492532, PMID:16144992, PMID:29720683, PMID:15673802 RGD:1580822, RGD:13703117, RGD:1580826 NCBI chr  X:124,722,628...124,766,079
Ensembl chr  X:124,722,628...124,766,044
JBrowse link
G Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:29720683 RGD:13703117
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17235623 PMID:17394203 PMID:17438622 PMID:23299917 PMID:24033266 PMID:25041374 PMID:25616123 PMID:25741868 PMID:27532257 PMID:27561770 PMID:27896284 PMID:28492532 PMID:31078652 NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:10612827 PMID:23183350 PMID:23328570 PMID:24033266 PMID:24503780 PMID:24768879 PMID:25741868 PMID:26183555 PMID:26752647 PMID:27532257 PMID:27813223 PMID:28492532 PMID:28531892 PMID:28663758 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 9:119,517,101...119,591,533
Ensembl chr 9:119,517,101...119,591,533
JBrowse link
G Lrp4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:80,362,643...80,416,684
Ensembl chr 3:80,362,858...80,416,679
JBrowse link
G Madd MAP-kinase activating death domain ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:79,960,301...80,003,023
Ensembl chr 3:79,960,301...80,003,032
JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha ISO protein:increased expression:heart RGD PMID:25209900 RGD:11558015 NCBI chr 3:150,801,289...150,802,935
Ensembl chr 3:150,801,289...150,802,935
JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:11,458,971...11,478,520
Ensembl chr 7:11,458,967...11,478,489
JBrowse link
G Masp1 MBL associated serine protease 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr11:80,736,424...80,806,278
Ensembl chr11:80,736,576...80,803,382
JBrowse link
G Mir208a microRNA 208a ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr15:33,613,451...33,613,533 JBrowse link
G Mir208b microRNA 208b ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr15:33,639,510...33,639,621
Ensembl chr15:33,639,510...33,639,621
JBrowse link
G Mir451a microRNA 451a ISO RNA:decreased expression:heart RGD PMID:25209900 RGD:11558015 NCBI chr10:65,291,204...65,291,275
Ensembl chr10:65,291,204...65,291,275
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:12952838 RGD:1582538 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:plasma RGD PMID:18585501 RGD:5130889 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma RGD PMID:18585501 RGD:5130889 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mtpn myotrophin ISS MouseDO NCBI chr 4:63,012,009...63,039,422
Ensembl chr 4:63,012,011...63,039,422
JBrowse link
G Mybpc3 myosin binding protein C3 ISO DNA:mutations: :multiple
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
DNA:polymorphism:exon:18443A>G (human)
ClinVar
CTD
PMID:1853307 PMID:2073894 PMID:2561168 PMID:2732257 PMID:2943217 PMID:3140859 PMID:7493025 PMID:7493026 PMID:7786104 PMID:9048664 PMID:9218526 PMID:9241277 PMID:9503187 PMID:9536098 PMID:9541100 PMID:9541104 PMID:9541115 PMID:9562578 PMID:9631872 PMID:9742053 PMID:10424815 PMID:10521296 PMID:10610770 PMID:10736283 PMID:11499718 PMID:11499719 PMID:11748309 PMID:11815426 PMID:11835941 PMID:11847170 PMID:12110947 PMID:12117842 PMID:12202917 PMID:12386147 PMID:12403824 PMID:12566107 PMID:12601548 PMID:12628722 PMID:12707239 PMID:12787675 PMID:12788380 PMID:12818575 PMID:12951062 PMID:12974739 PMID:14563344 PMID:14613868 PMID:14718142 PMID:15010274 PMID:15114369 PMID:15115610 PMID:15166115 PMID:15519027 PMID:15563892 PMID:15671604 PMID:15769446 PMID:15823648 PMID:15936968 PMID:16004897 PMID:16061003 PMID:16181148 PMID:16199542 PMID:16199547 PMID:16267253 PMID:16335287 PMID:16352453 PMID:16566405 PMID:16651346 PMID:16679492 PMID:16715312 PMID:16754800 PMID:16831826 PMID:16858239 PMID:17081393 PMID:17386157 PMID:17394878 PMID:17521870 PMID:17536430 PMID:17560888 PMID:17576681 PMID:17612681 PMID:17643520 PMID:17655857 PMID:17908752 PMID:17937428 PMID:18258667 PMID:18273486 PMID:18337725 PMID:18374358 PMID:18400036 PMID:18403758 PMID:18409188 PMID:18414213 PMID:18467358 PMID:18533079 PMID:18713777 PMID:18761664 PMID:18803133 PMID:18809796 PMID:18926831 PMID:18929575 PMID:18957093 PMID:19035361 PMID:19134269 PMID:19150014 PMID:19151713 PMID:19273718 PMID:19293840 PMID:19356534 PMID:19574547 PMID:19590044 PMID:19632136 PMID:19659763 PMID:19666645 PMID:19763152 PMID:19808356 PMID:19858127 PMID:19996403 PMID:20019025 PMID:20031602 PMID:20031618 PMID:20031619 PMID:20045868 PMID:20051424 PMID:20128375 PMID:20159828 PMID:20173211 PMID:20201939 PMID:20215591 PMID:20298698 PMID:20307669 PMID:20359594 PMID:20378854 PMID:20414521 PMID:20433692 PMID:20435227 PMID:20439259 PMID:20458009 PMID:20474083 PMID:20505798 PMID:20513729 PMID:20530761 PMID:20542340 PMID:20605413 PMID:20624503 PMID:20641121 PMID:20738943 PMID:20800588 PMID:20818890 PMID:20864638 PMID:20975235 PMID:21088121 PMID:21165360 PMID:21185001 PMID:21239446 PMID:21252143 PMID:21297165 PMID:21302287 PMID:21310275 PMID:21415409 PMID:21424860 PMID:21425739 PMID:21472310 PMID:21488259 PMID:21488307 PMID:21499742 PMID:21511876 PMID:21520333 PMID:21551322 PMID:21638988 PMID:21750094 PMID:21799269 PMID:21817903 PMID:21832025 PMID:21832052 PMID:21835286 PMID:21835320 PMID:21839045 PMID:21896538 PMID:21915287 PMID:21939669 PMID:21943931 PMID:21959974 PMID:21985754 PMID:22057632 PMID:22076249 PMID:22112859 PMID:22115648 PMID:22122802 PMID:22173300 PMID:22177269 PMID:22178992 PMID:22194935 PMID:22267749 PMID:22314326 PMID:22337857 PMID:22361390 PMID:22386539 PMID:22406018 PMID:22429680 PMID:22455086 PMID:22462493 PMID:22464770 PMID:22555271 PMID:22560514 PMID:22563033 PMID:22569109 PMID:22574137 PMID:22589294 PMID:22763267 PMID:22765922 PMID:22857948 PMID:22907696 PMID:22958901 PMID:22995991 PMID:23054336 PMID:23074333 PMID:23140321 PMID:23164068 PMID:23197398 PMID:23217326 PMID:23233322 PMID:23283745 PMID:23299917 PMID:23348723 PMID:23349452 PMID:23396983 PMID:23418287 PMID:23508784 PMID:23527136 PMID:23534983 PMID:23549607 PMID:23642604 PMID:23674513 PMID:23690394 PMID:23711808 PMID:23782526 PMID:23785128 PMID:23816408 PMID:23820649 PMID:23840593 PMID:23861362 PMID:23980194 PMID:24033266 PMID:24055113 PMID:24062880 PMID:24083979 PMID:24093860 PMID:24111713 PMID:24113344 PMID:24119082 PMID:24327208 PMID:24447051 PMID:24503780 PMID:24510615 PMID:24602869 PMID:24621997 PMID:24704860 PMID:24721642 PMID:24774285 PMID:24774606 PMID:24793961 PMID:24795128 PMID:24810389 PMID:24835277 PMID:24865491 PMID:25031304 PMID:25034069 PMID:25037680 PMID:25058872 PMID:25078086 PMID:25086479 PMID:25127965 PMID:25132132 PMID:25163546 PMID:25210889 PMID:25214167 PMID:25228707 PMID:25262865 PMID:25281569 PMID:25326637 PMID:25335496 PMID:25342278 PMID:25351510 PMID:25377941 PMID:25443708 PMID:25447171 PMID:25512492 PMID:25524337 PMID:25525159 PMID:25543971 PMID:25558701 PMID:25566086 PMID:25569433 PMID:25583989 PMID:25611685 PMID:25631583 PMID:25635128 PMID:25637381 PMID:25740977 PMID:25741868 PMID:25741869 PMID:25849606 PMID:25856671 PMID:25971843 PMID:26090888 PMID:26163040 PMID:26178432 PMID:26189708 PMID:26223264 PMID:26267065 PMID:26332198 PMID:26332594 PMID:26358504 PMID:26383716 PMID:26458567 PMID:26467025 PMID:26497160 PMID:26654849 PMID:26656175 PMID:26671970 PMID:26688216 PMID:26743238 PMID:26822237 PMID:26899768 PMID:26914223 PMID:26936621 PMID:27000522 PMID:27066506 PMID:27066507 PMID:27096365 PMID:27108529 PMID:27112610 PMID:27153395 PMID:27173948 PMID:27194543 PMID:27267291 PMID:27332903 PMID:27391121 PMID:27418595 PMID:27435932 PMID:27476098 PMID:27483260 PMID:27532257 PMID:27561770 PMID:27576561 PMID:27590665 PMID:27600940 PMID:27618852 PMID:27620334 PMID:27650965 PMID:27688314 PMID:27737317 PMID:27831900 PMID:27834932 PMID:27841901 PMID:27885498 PMID:27896284 PMID:27930701 PMID:27994558 PMID:28024942 PMID:28029522 PMID:28074886 PMID:28087566 PMID:28138913 PMID:28166282 PMID:28166811 PMID:28193612 PMID:28202948 PMID:28214152 PMID:28241245 PMID:28323875 PMID:28356264 PMID:28408708 PMID:28416588 PMID:28420666 PMID:28436997 PMID:28450932 PMID:28492532 PMID:28498465 PMID:28518168 PMID:28538763 PMID:28611029 PMID:28614222 PMID:28615295 PMID:28640247 PMID:28658286 PMID:28679633 PMID:28749478 PMID:28750076 PMID:28771489 PMID:28790153 PMID:28794111 PMID:28797094 PMID:28798025 PMID:28807990 PMID:28824454 PMID:28840316 PMID:28843747 PMID:28855170 PMID:28916354 PMID:28971120 PMID:29029073 PMID:29030401 PMID:29032884 PMID:29121657 PMID:29212898 PMID:29247119 PMID:29255176 PMID:29367541 PMID:29398688 PMID:29447731 PMID:29451820 PMID:29493010 PMID:29497013 PMID:29524613 PMID:29540445 PMID:29540472 PMID:29555771 PMID:29661763 PMID:29663722 PMID:29686099 PMID:29709087 PMID:29710196 PMID:29875314 PMID:29875424 PMID:29907873 PMID:29988065 PMID:30025578 PMID:30165862 PMID:30188508 PMID:30206291 PMID:30282064 PMID:30297972 PMID:30446606 PMID:30471092 PMID:30645170 PMID:30731207 PMID:30762279 PMID:30790116 PMID:30847666 PMID:30871747 PMID:30896616 PMID:30924982 PMID:30959811 PMID:30972196 PMID:30984009 PMID:30985088 PMID:31006259 PMID:31028938 PMID:31110529 PMID:31112421 PMID:31333075 PMID:31513939 PMID:31568572 PMID:31730716 PMID:32009526 PMID:32860008 PMID:397516074, PMID:15519027, PMID:15737656 RGD:1580235, RGD:1580233 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22000973 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15998695 PMID:20656787 PMID:22011241 PMID:23861362 PMID:24033266 PMID:24082139 PMID:25741868 PMID:27600940 PMID:27789736 PMID:28416588 PMID:28492532 PMID:29741611 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Myh7 myosin heavy chain 7 severity ISO DNA:missense mutations: :multiple
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.R719W (human)
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
DNA:deletion, missense mutations: :multiple
ClinVar
CTD
PMID:1361491 PMID:1423936 PMID:1430197 PMID:1472461 PMID:1552912 PMID:1634614 PMID:1638703 PMID:1739523 PMID:1944483 PMID:1975517 PMID:1975599 PMID:2062450 PMID:2136805 PMID:2249844 PMID:2411171 PMID:2753225 PMID:2790153 PMID:3203908 PMID:4104682 PMID:7532257 PMID:7581410 PMID:7648684 PMID:7662452 PMID:7731997 PMID:7786104 PMID:7788887 PMID:7789380 PMID:7796500 PMID:7848420 PMID:7848441 PMID:7874131 PMID:7883988 PMID:7909436 PMID:7994801 PMID:8186698 PMID:8250038 PMID:8254035 PMID:8268932 PMID:8281650 PMID:8282798 PMID:8335820 PMID:8343162 PMID:8435239 PMID:8483915 PMID:8490051 PMID:8514894 PMID:8533830 PMID:8614836 PMID:8655135 PMID:8788376 PMID:8898372 PMID:8981935 PMID:9001794 PMID:9058851 PMID:9062359 PMID:9105042 PMID:9140824 PMID:9140839 PMID:9154300 PMID:9172070 PMID:9271024 PMID:9476679 PMID:9541509 PMID:9544842 PMID:9822100 PMID:9826622 PMID:9829907 PMID:9835779 PMID:9874056 PMID:9884344 PMID:10024460 PMID:10065021 PMID:10086390 PMID:10328076 PMID:10424815 PMID:10521296 PMID:10563488 PMID:10567705 PMID:10606622 PMID:10662815 PMID:10679957 PMID:10725281 PMID:10750581 PMID:10764406 PMID:10862102 PMID:10874840 PMID:10882745 PMID:10900182 PMID:10957787 PMID:11106718 PMID:11113006 PMID:11133230 PMID:11186938 PMID:11196015 PMID:11227787 PMID:11377367 PMID:11424919 PMID:11433818 PMID:11447480 PMID:11498078 PMID:11723028 PMID:11733062 PMID:11748309 PMID:11861410 PMID:11861413 PMID:11904418 PMID:11968089 PMID:12081993 PMID:12084606 PMID:12117842 PMID:12379228 PMID:12473556 PMID:12566107 PMID:12590187 PMID:12601548 PMID:12707239 PMID:12749056 PMID:12818575 PMID:12820698 PMID:12881443 PMID:12951062 PMID:12953063 PMID:12974739 PMID:12975413 PMID:13732753 PMID:14520662 PMID:14656445 PMID:14659406 PMID:15000344 PMID:15001446 PMID:15008060 PMID:15010274 PMID:15114369 PMID:15136674 PMID:15184651 PMID:15322983 PMID:15358028 PMID:15483641 PMID:15519027 PMID:15528230 PMID:15550524 PMID:15556047 PMID:15563892 PMID:15699387 PMID:15757018 PMID:15769782 PMID:15856146 PMID:15858117 PMID:15940186 PMID:16115294 PMID:16137545 PMID:16199542 PMID:16253604 PMID:16267253 PMID:16335287 PMID:16352453 PMID:16504640 PMID:16630449 PMID:16630450 PMID:16650083 PMID:16684601 PMID:16715312 PMID:16754800 PMID:16858239 PMID:16918501 PMID:16938236 PMID:16983074 PMID:17019812 PMID:17095604 PMID:17097032 PMID:17118657 PMID:17125710 PMID:17180650 PMID:17192269 PMID:17336526 PMID:17351073 PMID:17372140 PMID:17383184 PMID:17438619 PMID:17476457 PMID:17495353 PMID:17502101 PMID:17548557 PMID:17560888 PMID:17599605 PMID:17612745 PMID:17703256 PMID:17947214 PMID:17987111 PMID:18020371 PMID:18029407 PMID:18076673 PMID:18175163 PMID:18258667 PMID:18374998 PMID:18380764 PMID:18383048 PMID:18403758 PMID:18409188 PMID:18411228 PMID:18414213 PMID:18506004 PMID:18519860 PMID:18533079 PMID:18555187 PMID:18565996 PMID:18660445 PMID:18761664 PMID:18953637 PMID:19035361 PMID:19134269 PMID:19138847 PMID:19149795 PMID:19150014 PMID:19293840 PMID:19336582 PMID:19412328 PMID:19477645 PMID:19586842 PMID:19645038 PMID:19651039 PMID:19659763 PMID:19666645 PMID:19808347 PMID:19808356 PMID:19843903 PMID:19854198 PMID:19864899 PMID:19880069 PMID:19913502 PMID:20031602 PMID:20031618 PMID:20031619 PMID:20038417 PMID:20075948 PMID:20086309 PMID:20215591 PMID:20298698 PMID:20309391 PMID:20350521 PMID:20359594 PMID:20376763 PMID:20378854 PMID:20394946 PMID:20428263 PMID:20439259 PMID:20474083 PMID:20513729 PMID:20530761 PMID:20573160 PMID:20594303 PMID:20624503 PMID:20641121 PMID:20646679 PMID:20664766 PMID:20733148 PMID:20738943 PMID:20800588 PMID:20811150 PMID:20817590 PMID:20818890 PMID:20819418 PMID:20865685 PMID:20952769 PMID:20965760 PMID:20975235 PMID:20981092 PMID:21127202 PMID:21185001 PMID:21216834 PMID:21239280 PMID:21239446 PMID:21252143 PMID:21302287 PMID:21310275 PMID:21425739 PMID:21426742 PMID:21482996 PMID:21483645 PMID:21499742 PMID:21511876 PMID:21520333 PMID:21551322 PMID:21576279 PMID:21642240 PMID:21674835 PMID:21750094 PMID:21769673 PMID:21799269 PMID:21811976 PMID:21817903 PMID:21832052 PMID:21835320 PMID:21839045 PMID:21896538 PMID:21943931 PMID:21958740 PMID:21959974 PMID:22112859 PMID:22155079 PMID:22177269 PMID:22213221 PMID:22260945 PMID:22267749 PMID:22286171 PMID:22337857 PMID:22429680 PMID:22455086 PMID:22464770 PMID:22555271 PMID:22735528 PMID:22763267 PMID:22765922 PMID:22784669 PMID:22811549 PMID:22857948 PMID:22859017 PMID:22918376 PMID:22949430 PMID:22958901 PMID:23054336 PMID:23074333 PMID:23140321 PMID:23153285 PMID:23197161 PMID:23197398 PMID:23233322 PMID:23271734 PMID:23281406 PMID:23283745 PMID:23290139 PMID:23299917 PMID:23313350 PMID:23318932 PMID:23349452 PMID:23396983 PMID:23403236 PMID:23408646 PMID:23426552 PMID:23508784 PMID:23549607 PMID:23580644 PMID:23674513 PMID:23690394 PMID:23707328 PMID:23711808 PMID:23712688 PMID:23751935 PMID:23782526 PMID:23785128 PMID:23794396 PMID:23798412 PMID:23816408 PMID:23861362 PMID:24033266 PMID:24047955 PMID:24093860 PMID:24111713 PMID:24119082 PMID:24183960 PMID:24215330 PMID:24268868 PMID:24298987 PMID:24344137 PMID:24498601 PMID:24503780 PMID:24510615 PMID:24558114 PMID:24621997 PMID:24664454 PMID:24691700 PMID:24704860 PMID:24721642 PMID:24749114 PMID:24758099 PMID:24793961 PMID:24829265 PMID:24835277 PMID:24865491 PMID:24888384 PMID:24928957 PMID:25031304 PMID:25078086 PMID:25086479 PMID:25125180 PMID:25132132 PMID:25163446 PMID:25163546 PMID:25214167 PMID:25228707 PMID:25239116 PMID:25326635 PMID:25326637 PMID:25327599 PMID:25332820 PMID:25342278 PMID:25346696 PMID:25351510 PMID:25422285 PMID:25447171 PMID:25447691 PMID:25448463 PMID:25467552 PMID:25524337 PMID:25543971 PMID:25558701 PMID:25569433 PMID:25576864 PMID:25611685 PMID:25637381 PMID:25649125 PMID:25666907 PMID:25714468 PMID:25741868 PMID:25892673 PMID:25931334 PMID:25935763 PMID:25937279 PMID:25937619 PMID:25961035 PMID:25979592 PMID:26025024 PMID:26084686 PMID:26162782 PMID:26187847 PMID:26199943 PMID:26220970 PMID:26223264 PMID:26246073 PMID:26271555 PMID:26332594 PMID:26383716 PMID:26406308 PMID:26446785 PMID:26458567 PMID:26467025 PMID:26468400 PMID:26497160 PMID:26573135 PMID:26627873 PMID:26656175 PMID:26688388 PMID:26718681 PMID:26743238 PMID:26782017 PMID:26846766 PMID:26899768 PMID:26912705 PMID:26914223 PMID:26936621 PMID:26969127 PMID:26969327 PMID:27000522 PMID:27066506 PMID:27066507 PMID:27082122 PMID:27153395 PMID:27161364 PMID:27161882 PMID:27224906 PMID:27247418 PMID:27282841 PMID:27387980 PMID:27460395 PMID:27483260 PMID:27519903 PMID:27532257 PMID:27574918 PMID:27576561 PMID:27600940 PMID:27662471 PMID:27688314 PMID:27707468 PMID:27737317 PMID:27788187 PMID:27831900 PMID:27841901 PMID:27854218 PMID:27884173 PMID:27885498 PMID:27930701 PMID:27965028 PMID:27974200 PMID:28005231 PMID:28045975 PMID:28067235 PMID:28087426 PMID:28125727 PMID:28138913 PMID:28152038 PMID:28193612 PMID:28202948 PMID:28241245 PMID:28246639 PMID:28265379 PMID:28296734 PMID:28323875 PMID:28356264 PMID:28396031 PMID:28408708 PMID:28416588 PMID:28420666 PMID:28449774 PMID:28481356 PMID:28492532 PMID:28498465 PMID:28518168 PMID:28566242 PMID:28588093 PMID:28606303 PMID:28611029 PMID:28615295 PMID:28640247 PMID:28642161 PMID:28687478 PMID:28699631 PMID:28704380 PMID:28750076 PMID:28771489 PMID:28777849 PMID:28790153 PMID:28794111 PMID:28798025 PMID:28807990 PMID:28815794 PMID:28855170 PMID:28878402 PMID:28971120 PMID:28973424 PMID:28986452 PMID:29029073 PMID:29093449 PMID:29101517 PMID:29121657 PMID:29169752 PMID:29178653 PMID:29212898 PMID:29255176 PMID:29300372 PMID:29343710 PMID:29343803 PMID:29447731 PMID:29497013 PMID:29540472 PMID:29661763 PMID:29666183 PMID:29686627 PMID:29709087 PMID:29710196 PMID:29741611 PMID:29773157 PMID:29867217 PMID:29875424 PMID:29892087 PMID:29907873 PMID:29915097 PMID:29970176 PMID:29997562 PMID:30022097 PMID:30105547 PMID:30122538 PMID:30165862 PMID:30206291 PMID:30217213 PMID:30275503 PMID:30297972 PMID:30384889 PMID:30511546 PMID:30531895 PMID:30623132 PMID:30674652 PMID:30696458 PMID:30745532 PMID:30775854 PMID:30868567 PMID:30871747 PMID:30972196 PMID:31006259 PMID:31110529 PMID:31112422 PMID:31130376 PMID:31156706 PMID:31199839 PMID:31213605 PMID:31308319 PMID:31317183 PMID:31333075 PMID:31493341 PMID:31568572 PMID:31638223 PMID:31722741 PMID:32013205 PMID:32381727 PMID:32492895, PMID:15856146, PMID:9154300, PMID:15358028 RGD:1580926, RGD:11065270, RGD:1580929 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:08673105 PMID:9527842 PMID:09535554 PMID:9724616 PMID:10948063 PMID:11102452 PMID:11748309 PMID:12404107 PMID:12668451 PMID:12707239 PMID:12818575 PMID:14594949 PMID:15483641 PMID:16076902 PMID:16751284 PMID:16837010 PMID:17606808 PMID:18506004 PMID:18533079 PMID:18929571 PMID:19150977 PMID:20173211 PMID:20855589 PMID:21310275 PMID:21723297 PMID:21835320 PMID:21896538 PMID:22091967 PMID:22797899 PMID:22958901 PMID:23197161 PMID:23283745 PMID:23299917 PMID:23343568 PMID:23365102 PMID:23396983 PMID:23727233 PMID:23785128 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24111713 PMID:24793961 PMID:25324513 PMID:25333069 PMID:25351510 PMID:25524337 PMID:25611685 PMID:25637381 PMID:25741868 PMID:26116789 PMID:26187847 PMID:26497160 PMID:26664906 PMID:26914223 PMID:27153395 PMID:27435932 PMID:27483260 PMID:27532257 PMID:27600940 PMID:28223422 PMID:28492532 PMID:28771489 PMID:29398688 PMID:29452157 PMID:29710196 PMID:30403391 PMID:30430732 PMID:31019283 NCBI chr12:39,951,863...39,959,065
Ensembl chr12:39,951,987...39,958,239
JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
ClinVar PMID:6211078 PMID:08673105 PMID:11174330 PMID:12021217 PMID:16267253 PMID:16754800 PMID:17142342 PMID:18403758 PMID:18409188 PMID:20031618 PMID:20641121 PMID:21239446 PMID:21823217 PMID:21885653 PMID:22131351 PMID:22957257 PMID:22958901 PMID:23054336 PMID:23283745 PMID:23396983 PMID:23426552 PMID:23549607 PMID:23594557 PMID:23748425 PMID:24033266 PMID:24111713 PMID:24510615 PMID:24911555 PMID:25132132 PMID:25342278 PMID:25351510 PMID:25637381 PMID:25741868 PMID:25856671 PMID:25910212 PMID:26385864 PMID:26443374 PMID:26633542 PMID:27153395 PMID:27483260 PMID:27532257 PMID:27574918 PMID:27831900 PMID:28193612 PMID:28241245 PMID:28356264 PMID:28371863 PMID:28408708 PMID:28492532 PMID:28518168 PMID:28615295 PMID:28658286 PMID:28771489 PMID:28790153 PMID:28971120 PMID:29121657 PMID:29253866 PMID:29420653 PMID:29669825 PMID:29709087 PMID:29710196 PMID:29914921 PMID:30297972 PMID:30706179 PMID:31110529 PMID:31199839 PMID:31447099 PMID:31513939 PMID:32380161 PMID:32492895 NCBI chr 8:119,030,852...119,036,996
Ensembl chr 8:119,030,875...119,036,996
JBrowse link
G Myl4 myosin, light chain 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr10:92,628,356...92,638,100
Ensembl chr10:92,628,356...92,638,100
JBrowse link
G Myl7 myosin light chain 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr14:86,144,770...86,147,075
Ensembl chr14:86,143,862...86,147,553
JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:148,386,185...148,397,851
Ensembl chr 3:148,386,189...148,399,501
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:26036949 PMID:26656175 PMID:27662471 PMID:28492532 NCBI chr 9:119,353,840...119,469,196
Ensembl chr 9:119,353,840...119,468,715
JBrowse link
G Myoz2 myozenin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17347475 PMID:17434779 PMID:19472918 PMID:22310962 PMID:22987565 PMID:23861362 PMID:24033266 PMID:25741868 PMID:27532257 PMID:27788187 PMID:28492532 PMID:28798025 NCBI chr 2:227,180,887...227,207,629
Ensembl chr 2:227,180,886...227,207,635
JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18006477 PMID:20801532 PMID:22286171 PMID:23861362 PMID:24033266 PMID:25741868 PMID:27884173 PMID:27896284 PMID:28492532 NCBI chr20:26,988,820...27,074,106
Ensembl chr20:26,988,774...27,074,138
JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr 9:69,919,863...69,953,182
Ensembl chr 9:69,919,867...69,953,182
JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 susceptibility ISO associated with Mitochondrial Encephalomyopathies;DNA:missense mutations: :p.R228Q, p.P229Q, p.S413P (human) RGD PMID:11220739 RGD:1600573 NCBI chr13:89,606,848...89,623,506
Ensembl chr13:89,606,840...89,619,398
JBrowse link
G Nebl nebulette ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:84,141,014...84,247,038
Ensembl chr17:84,140,489...84,488,601
JBrowse link
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:257,452,937...257,484,607
Ensembl chr 2:257,453,347...257,484,587
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
G Nme1 NME/NM23 nucleoside diphosphate kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9527842 NCBI chr10:81,657,152...81,666,542
Ensembl chr10:81,657,153...81,666,523
JBrowse link
G Nmnat2 nicotinamide nucleotide adenylyltransferase 2 IEP protein:decreased expression, decreased activity:heart RGD PMID:22449973 RGD:13782043 NCBI chr13:70,379,346...70,559,311
Ensembl chr13:70,379,346...70,559,458
JBrowse link
G Npm1 nucleophosmin 1 ISO protein:increased expression:cardiomyocyte: RGD PMID:21444791 RGD:11535018 NCBI chr10:18,080,949...18,091,062
Ensembl chr10:18,080,950...18,090,950
JBrowse link
G Nppa natriuretic peptide A IEP protein:decreased expression:cardiomyocyte RGD PMID:25820375 RGD:13792650 NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:80,004,130...80,014,197
Ensembl chr 3:80,004,130...80,012,750
JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr17:82,020,316...82,060,533
Ensembl chr17:82,022,490...82,060,123
JBrowse link
G Pacsin3 protein kinase C and casein kinase substrate in neurons 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:80,072,425...80,081,058
Ensembl chr 3:80,072,489...80,081,047
JBrowse link
G Pdlim3 PDZ and LIM domain 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17254821 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:49,543,140...49,574,362
Ensembl chr16:49,543,142...49,574,390
JBrowse link
G Pepd peptidase D ISS MouseDO NCBI chr 1:90,820,670...91,285,128 JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISS MouseDO NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:16567567 PMID:17556197 PMID:19863551 PMID:19955750 PMID:20525856 PMID:20716751 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24352520 PMID:25163546 PMID:25637381 PMID:25741868 PMID:26498160 PMID:28301460 PMID:28492532 PMID:29802319 PMID:30445427 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 PMID:22137083 PMID:23861362 PMID:24033266 PMID:25611685 PMID:25741868 PMID:26535225 PMID:27532257 PMID:28492532 PMID:28600387 PMID:28790153 NCBI chr20:34,633,157...34,642,904
Ensembl chr20:34,633,157...34,642,904
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2536513 PMID:2831920 PMID:2853496 PMID:8381257 PMID:8928979 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Ppp6r1 protein phosphatase 6, regulatory subunit 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 1:72,756,819...72,784,492
Ensembl chr 1:72,756,809...72,784,482
JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:10355918 PMID:10368461 PMID:10820940 PMID:11407343 PMID:11748095 PMID:11827995 PMID:14519435 PMID:14696860 PMID:14722619 PMID:15611370 PMID:15673802 PMID:15877279 PMID:16487706 PMID:16716659 PMID:16836667 PMID:17483151 PMID:17597581 PMID:17711718 PMID:18403758 PMID:19787389 PMID:19808419 PMID:20005292 PMID:20031621 PMID:20381067 PMID:20600102 PMID:20888928 PMID:23778007 PMID:23829931 PMID:23992123 PMID:24033266 PMID:24503780 PMID:25092788 PMID:25611685 PMID:25741868 PMID:25997934 PMID:26085771 PMID:26729852 PMID:27189955 PMID:27532257 PMID:27573176 PMID:27621313 PMID:28341588 PMID:28431061 PMID:28492532 PMID:28917552 PMID:29247119 PMID:29298659, PMID:16275868 RGD:1580716 NCBI chr 4:6,559,153...6,799,888
Ensembl chr 4:6,559,545...6,799,632
JBrowse link
G Psmc3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:79,876,938...79,882,319
Ensembl chr 3:79,876,938...79,882,319
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO
ISS
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
MouseDO
PMID:11992261 PMID:12058348 PMID:14644997 PMID:14961557 PMID:15121796 PMID:15520399 PMID:15539800 PMID:15712196 PMID:15987685 PMID:16338218 PMID:16358218 PMID:16377799 PMID:16638574 PMID:17020470 PMID:17339163 PMID:17361219 PMID:17935252 PMID:18372317 PMID:18373317 PMID:18849586 PMID:19020799 PMID:19054014 PMID:19133693 PMID:19174044 PMID:19737548 PMID:19825837 PMID:19864201 PMID:20308328 PMID:20493809 PMID:20535210 PMID:20883402 PMID:21365175 PMID:21706501 PMID:21901340 PMID:21910245 PMID:22190897 PMID:22315187 PMID:22411627 PMID:22555271 PMID:22585553 PMID:22681964 PMID:23312806 PMID:23317994 PMID:23457302 PMID:23584145 PMID:23813970 PMID:24033266 PMID:24037001 PMID:24451042 PMID:24628801 PMID:24767283 PMID:24775816 PMID:24935154 PMID:25544017 PMID:25585602 PMID:25741868 PMID:25884655 PMID:25917897 PMID:26337637 PMID:27238887 PMID:27484170 PMID:27659786 PMID:28363362 PMID:28492532 PMID:28681392 PMID:29493581 PMID:30311386 PMID:32581362, PMID:22058153 RGD:11072362 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Ptprh protein tyrosine phosphatase, receptor type, H ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 1:72,809,935...72,859,161
Ensembl chr 1:72,810,545...72,859,161
JBrowse link
G Rab8b RAB8B, member RAS oncogene family