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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:congenital heart disease
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Accession:DOID:1682 term browser browse the term
Definition:Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.
Synonyms:exact_synonym: Heart Abnormalities;   Heart Abnormality;   Heart, Malformation Of;   congenital anomaly of heart;   congenital heart defect;   congenital heart defects;   heart defect;   heart malformation;   malformation of the heart
 narrow_synonym: isolated nonsyndromic congenital heart disease;   malformation of the heart and great vessels
 primary_id: MESH:D006330
 xref: ICD10CM:Q24.9;   ICD9CM:746.9;   NCI:C34666;   NCI:C95834
For additional species annotation, visit the Alliance of Genome Resources.



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congenital heart disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23874772 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital heart disease
CTD
ClinVar
PMID:25741868 PMID:28288113 NCBI chr 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,711
JBrowse link
G ADAM19 ADAM metallopeptidase domain 19 ISO RGD PMID:14673146 RGD:1559267 NCBI chr16:65,715,445...65,814,761
Ensembl chr16:65,715,622...65,814,760
JBrowse link
G AFF4 AF4/FMR2 family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25730767 NCBI chr 2:135,196,067...135,283,931
Ensembl chr 2:135,200,076...135,283,916
JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19261855 NCBI chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943
JBrowse link
G CAV3 caveolin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21082655 NCBI chr13:65,117,868...65,130,886
Ensembl chr13:65,117,776...65,134,066
JBrowse link
G CBFB core-binding factor subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17022082 NCBI chr 6:27,684,320...27,750,856
Ensembl chr 6:27,684,030...27,776,751
JBrowse link
G CDK8 cyclin dependent kinase 8 ISO ClinVar Annotator: match by term: Heart, malformation of ClinVar PMID:25741868 NCBI chr11:4,054,442...4,161,501
Ensembl chr11:4,054,209...4,181,093
JBrowse link
G CDKL4 cyclin dependent kinase like 4 ISO ClinVar Annotator: match by term: Heart, malformation of ClinVar NCBI chr 3:101,087,156...101,138,839
Ensembl chr 3:101,089,243...101,362,723
JBrowse link
G CEP170B centrosomal protein 170B ISO ClinVar Annotator: match by term: Heart, malformation of ClinVar PMID:23087211 PMID:25741868 PMID:31680349
G CERS1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Congenital heart defects ClinVar PMID:28492532 PMID:28991257 NCBI chr 2:58,951,463...58,972,692 JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO RGD PMID:11823447 RGD:734781 NCBI chr 1:25,155,652...25,158,517
Ensembl chr 1:25,155,664...25,160,279
JBrowse link
G COL11A2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Heart, malformation of ClinVar PMID:22246659 PMID:24033266 PMID:25741868 PMID:26445815 PMID:29456477 More... NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,496...25,234,888
JBrowse link
G DDB1 damage specific DNA binding protein 1 ISO ClinVar Annotator: match by term: Heart, malformation of ClinVar PMID:25741868 NCBI chr 2:10,171,554...10,201,602
Ensembl chr 2:10,171,499...10,201,602
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO associated with Vitamin A Deficiency; mRNA:increased expression:heart: RGD PMID:23333085 RGD:9588314 NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,564...69,029,919
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO associated with Vitamin A Deficiency; mRNA:decreased expression:heart: RGD PMID:23333085 RGD:9588314 NCBI chr 3:113,501,972...113,609,148
Ensembl chr 3:113,528,926...113,609,139
JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO associated with Vitamin A Deficiency; mRNA:decreased expression:heart: RGD PMID:23333085 RGD:9588314 NCBI chr17:36,345,715...36,386,076
Ensembl chr17:36,332,801...36,386,074
JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Heart, malformation of ClinVar PMID:25741868 PMID:29458881 PMID:31680349 NCBI chr 9:33,720,920...34,039,954
Ensembl chr 9:33,720,877...34,039,950
JBrowse link
G ECE1 endothelin converting enzyme 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9449665 PMID:9915973 NCBI chr 6:79,408,322...79,465,827
Ensembl chr 6:79,408,328...79,466,106
JBrowse link
G EDN1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9671575 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
JBrowse link
G EDNRA endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9811577 NCBI chr 8:81,210,750...81,279,053
Ensembl chr 8:81,209,327...81,276,853
JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15493068 NCBI chr 4:63,970,939...64,328,107
Ensembl chr 4:63,970,511...64,328,105
JBrowse link
G FKBP1A FKBP prolyl isomerase 1A ISO RGD PMID:9461216 RGD:1580388 NCBI chr17:33,910,047...33,935,212 JBrowse link
G FOLR1 folate receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17286298 NCBI chr 9:6,753,513...6,760,433
Ensembl chr 9:6,746,007...6,760,433
JBrowse link
G FOXP1 forkhead box P1 ISO DNA:missense mutation, deletion:cds, exons:p.P568S (human) RGD PMID:23766104 RGD:11071913 NCBI chr13:52,346,844...52,974,358
Ensembl chr13:52,347,849...52,974,261
JBrowse link
G GATA4 GATA binding protein 4 ISO associated with Vitamin A Deficiency; DNA,mRNA,protein:hypermethylation, decreased expression:heart:
ClinVar Annotator: match by term: Congenital heart disease
RGD
ClinVar
PMID:12845333 PMID:23333085 PMID:27426723 PMID:28492532 RGD:1580390 RGD:9588314 NCBI chr14:14,858,470...14,938,156
Ensembl chr14:14,858,159...14,939,941
JBrowse link
G GATA6 GATA binding protein 6 ISO DNA:missense mutation:cds:p.S184N (human)
ClinVar Annotator: match by term: Heart defect
ClinVar Annotator: match by term: Malformation of the heart and great vessels
RGD
ClinVar
PMID:20631719 PMID:22158542 PMID:24385578 RGD:13208832 NCBI chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,847...107,314,634
JBrowse link
G GDF1 growth differentiation factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital heart defects
CTD
ClinVar
PMID:28492532 PMID:28991257 NCBI chr 2:58,972,918...58,976,294
Ensembl chr 2:58,951,726...58,974,672
JBrowse link
G GNA11 G protein subunit alpha 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9687499 NCBI chr 2:75,439,405...75,456,855
Ensembl chr 2:75,437,201...75,457,092
JBrowse link
G GNAQ G protein subunit alpha q ISO CTD Direct Evidence: marker/mechanism CTD PMID:9687499 NCBI chr 1:230,607,469...230,906,988
Ensembl chr 1:230,605,229...230,907,675
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15213848 NCBI chr14:51,261,097...51,261,903
Ensembl chr14:51,260,963...51,262,114
JBrowse link
G HAND2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9671575 NCBI chr14:16,460,089...16,462,979
Ensembl chr14:16,460,119...16,462,735
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26073000 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,181...190,674,850
JBrowse link
G HOXA1 homeobox A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21940751 NCBI chr18:45,477,561...45,480,306
Ensembl chr18:45,477,548...45,480,413
JBrowse link
G HOXA3 homeobox A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1673020 NCBI chr18:45,421,542...45,467,803
Ensembl chr18:45,454,213...45,466,543
JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Heart, malformation of ClinVar PMID:25741868 PMID:27055666 PMID:31680349 NCBI chr 9:53,008,944...53,027,307
Ensembl chr 9:53,010,375...53,026,408
JBrowse link
G IRX5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr 6:30,511,263...30,515,015
Ensembl chr 6:30,511,894...30,515,097
JBrowse link
G ISL1 ISL LIM homeobox 1 ISO ClinVar Annotator: match by term: Heart, malformation of ClinVar NCBI chr16:30,962,994...30,974,201
Ensembl chr16:30,963,000...30,973,907
JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Isolated Nonsyndromic Congenital Heart Disease
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9585603 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 More... RGD:1582342 NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,252...19,630,085
JBrowse link
G KLF4 Kruppel like factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20439457 NCBI chr 1:248,604,817...248,609,574
Ensembl chr 1:248,604,820...248,609,574
JBrowse link
G MAML3 mastermind like transcriptional coactivator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23708190 NCBI chr 8:86,879,353...87,323,123
Ensembl chr 8:86,880,173...87,322,847
JBrowse link
G MAP4K3 mitogen-activated protein kinase kinase kinase kinase 3 ISO ClinVar Annotator: match by term: Heart, malformation of ClinVar NCBI chr 3:100,887,148...101,084,667
Ensembl chr 3:100,886,834...101,084,678
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO ClinVar Annotator: match by term: Heart, malformation of ClinVar PMID:25741868 PMID:32721402 NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,523
JBrowse link
G MEFV MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Heart, malformation of ClinVar PMID:9668175 PMID:10090880 PMID:10611954 PMID:10612841 PMID:10787450 More... NCBI chr 3:38,934,573...38,948,609 JBrowse link
G MKKS MKKS centrosomal shuttling protein ISO RGD PMID:12107442 RGD:1582516 NCBI chr17:19,341,024...19,363,007
Ensembl chr17:19,340,977...19,362,871
JBrowse link
G MOSPD3 motile sperm domain containing 3 ISO RGD PMID:15533722 RGD:1582660 NCBI chr 3:8,531,745...8,533,828
Ensembl chr 3:8,531,155...8,537,442
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16524890 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G MYH7 myosin heavy chain 7 ISO DNA:missense mutation:exon:p.R281T (c.842G>C) (human) RGD PMID:18159245 RGD:11098258 NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,650,445...75,709,232
JBrowse link
G MYL2 myosin light chain 2 ISO ClinVar Annotator: match by term: Congenital heart disease ClinVar PMID:25741868 NCBI chr14:32,205,953...32,213,848
Ensembl chr14:32,196,883...32,213,760
JBrowse link
G MYRF myelin regulatory factor ISO ClinVar Annotator: match by term: Heart, malformation of ClinVar PMID:25741868 PMID:30532227 NCBI chr 2:9,761,230...9,795,873 JBrowse link
G NIPBL NIPBL cohesin loading factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19763162 NCBI chr16:22,152,455...22,364,373
Ensembl chr16:22,152,501...22,363,847
JBrowse link
G NKX2-5 NK2 homeobox 5 no_association ISO DNA:missense mutation: :p.R52G (mouse)
ClinVar Annotator: match by term: Congenital heart disease
ClinVar Annotator: match by term: Malformation of the heart and great vessels
ClinVar Annotator: match by term: Heart, malformation of
DNA:nonsense mutation:exon 1:p.E109X (c.325G>T) (human)
DNA:missense mutation: :p.A119S (human)
DNA:missense mutation:exon:p.E181H (human)
DNA:mutations:multiple (human)
DNA:missense mutation, nonsense mutations: :p.Q170X, p.T178M, p.Q198X (human)
DNA:deletion:exon 1:c.112delG (human)
RGD
ClinVar
PMID:9651244 PMID:10587520 PMID:10903346 PMID:11073884 PMID:11714651 More... RGD:12914776 RGD:12914786 RGD:12914787 RGD:12914788 RGD:12914789 RGD:12914796 RGD:1580253 RGD:1581132 RGD:7247738 NCBI chr16:51,086,014...51,089,165
Ensembl chr16:51,086,011...51,089,165
JBrowse link
G NODAL nodal growth differentiation factor ISO ClinVar Annotator: match by term: Heart, malformation of ClinVar PMID:19064609 PMID:25741868 PMID:31680349 NCBI chr14:73,350,358...73,357,064
Ensembl chr14:73,349,965...73,360,618
JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Congenital heart defect
ClinVar Annotator: match by term: congenital heart defect
ClinVar Annotator: match by term: Congenital heart defects
ClinVar PMID:17662764 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28387797 More...
G NPHP4 nephrocystin 4 ISO DNA:missense mutations: :multiple RGD PMID:22550138 RGD:11537354 NCBI chr 6:66,815,282...66,928,245
Ensembl chr 6:66,815,281...66,928,146
JBrowse link
G NPPB natriuretic peptide B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16014188 NCBI chr 6:71,930,374...71,931,843
Ensembl chr 6:71,919,495...71,932,254
JBrowse link
G PEBP1 phosphatidylethanolamine binding protein 1 ISO associated with Down Syndrome;protein:decreased expression:heart RGD PMID:15063784 RGD:2302870 NCBI chr14:34,523,901...34,530,238 JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Heart defect ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,277,232
JBrowse link
G PITX2 paired like homeodomain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10499585 NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,664...111,723,298
JBrowse link
G POU5F1 POU class 5 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26507003 NCBI chr 7:23,564,654...23,570,691 JBrowse link
G PRDM6 PR/SET domain 6 ISO ClinVar Annotator: match by term: Heart, malformation of ClinVar NCBI chr 2:126,605,416...126,712,463
Ensembl chr 2:126,606,171...126,712,494
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Congenital heart disease ClinVar PMID:28492532 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225
JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Heart defect ClinVar PMID:9140396 PMID:9241266 PMID:9259288 PMID:9399897 PMID:9467011 More... NCBI chr14:99,929,590...100,021,619 JBrowse link
G PUS3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Heart, malformation of ClinVar PMID:25741868 PMID:27055666 PMID:31680349 NCBI chr 9:53,018,878...53,028,605
Ensembl chr 9:53,018,875...53,028,555
JBrowse link
G RASA2 RAS p21 protein activator 2 ISO ClinVar Annotator: match by term: Heart, malformation of ClinVar NCBI chr13:82,230,138...82,352,759
Ensembl chr13:82,230,131...82,352,757
JBrowse link
G RCAN1 regulator of calcineurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15906378 NCBI chr13:198,106,256...198,205,727
Ensembl chr13:198,102,098...198,205,629
JBrowse link
G ROBO1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Heart, malformation of ClinVar PMID:25741868 PMID:26489027 PMID:27854360 PMID:28286008 PMID:30712880 NCBI chr13:175,348,223...176,479,482
Ensembl chr13:175,505,366...176,479,482
JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Heart, malformation of ClinVar PMID:25741868 PMID:28492532 NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,245...54,406,355
JBrowse link
G SLC29A3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20140240 NCBI chr14:74,222,988...74,267,527
Ensembl chr14:74,222,658...74,274,660
JBrowse link
G SP4 Sp4 transcription factor ISO RGD PMID:15907824 RGD:1581309 NCBI chr 9:90,337,355...90,410,529
Ensembl chr 9:90,336,690...90,410,295
JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chr 7:59,317,930...59,347,274
Ensembl chr 7:59,318,010...59,347,267
JBrowse link
G TBX1 T-box transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17000704 NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,143...51,296,725
JBrowse link
G TBX5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Congenital heart defect ClinVar PMID:10077612 PMID:10077762 PMID:12499378 PMID:12789647 PMID:16380715 More... NCBI chr14:37,772,205...37,826,015
Ensembl chr14:37,773,605...37,824,400
JBrowse link
G TDGF1 teratocarcinoma-derived growth factor 1 ISO DNA:mutations:3'UTR,exons: RGD PMID:19853938 RGD:11561893 NCBI chr13:29,537,874...29,544,686
Ensembl chr13:29,540,314...29,543,893
JBrowse link
G TEK TEK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Heart defect ClinVar PMID:7783168 PMID:7833915 PMID:8980225 PMID:10369874 PMID:19888299 More... NCBI chr 1:195,938,177...196,052,294
Ensembl chr 1:195,937,394...196,051,957
JBrowse link
G TGFB2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9217007 NCBI chr10:8,306,136...8,435,307
Ensembl chr10:8,305,424...8,405,771
JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10024240 NCBI chr14:51,113,858...51,132,820
Ensembl chr14:51,113,713...51,133,072
JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16636650 PMID:26073000 RGD:1580565 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17478475 NCBI chr15:7,498,879...7,631,347
Ensembl chr15:7,499,026...7,632,655
JBrowse link
22q11 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12223415 NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,210...112,814,134
JBrowse link
G SIX1 SIX homeobox 1 ISO RGD PMID:21364285 RGD:11561941 NCBI chr 1:189,620,430...189,624,652
Ensembl chr 1:189,619,853...189,628,187
JBrowse link
3MC syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COLEC10 collectin subfamily member 10 ISO OMIM NCBI chr 4:19,692,990...20,143,740
Ensembl chr 4:19,692,826...19,744,135
JBrowse link
G COLEC11 collectin subfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 3:131,226,941...131,254,555
Ensembl chr 3:131,226,798...131,254,551
JBrowse link
G MASP1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr13:124,938,469...125,028,440
Ensembl chr13:124,955,029...125,054,463
JBrowse link
Aarskog syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGD1 FYVE, RhoGEF and PH domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aarskog syndrome
ClinVar Annotator: match by term: FGDY
ClinVar Annotator: match by term: Aarskog disease
CTD
ClinVar
PMID:4146757 PMID:7954831 PMID:10930571 PMID:11093277 PMID:11940089 More... NCBI chr  X:47,191,838...47,231,656
Ensembl chr  X:47,192,423...47,231,342
JBrowse link
G TSR2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: Aarskog syndrome ClinVar PMID:25741868 NCBI chr  X:47,186,610...47,192,465
Ensembl chr  X:47,186,604...47,192,460
JBrowse link
Alagille syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JAG1 jagged canonical Notch ligand 1 ISO OMIM NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,252...19,630,085
JBrowse link
G MKKS MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chr17:19,341,024...19,363,007
Ensembl chr17:19,340,977...19,362,871
JBrowse link
G NOTCH2 notch receptor 2 ISO OMIM NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,951,507...101,150,198
JBrowse link
G SLX4IP SLX4 interacting protein ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chr17:19,363,727...19,578,132 JBrowse link
G SNAP25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 NCBI chr17:19,096,115...19,227,580
Ensembl chr17:19,096,140...19,227,576
JBrowse link
Andersen-Tawil syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 ISO OMIM NCBI chr12:10,351,959...10,380,631
Ensembl chr12:10,349,409...10,362,244
JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 ISO ClinVar Annotator: match by term: Andersen Tawil syndrome
ClinVar Annotator: match by term: Andersen Syndrome
ClinVar PMID:20560207 PMID:21311022 PMID:22203740 PMID:24574546 PMID:25741868 More... NCBI chr 9:55,836,777...55,861,288
Ensembl chr 9:55,836,701...55,864,941
JBrowse link
Aortic Coarctation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO mRNA, protein:increased expression:myocardium (rat) RGD PMID:18419956 RGD:12859271 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G AGT angiotensinogen treatment ISO DNA:polymorphism: :c.704T>C (human) RGD PMID:21450583 RGD:13432358 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,672,428
JBrowse link
G GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Midaortic syndrome ClinVar PMID:29483232 NCBI chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,847...107,314,634
JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Midaortic syndrome ClinVar PMID:10220506 PMID:11139247 PMID:11180599 PMID:24748328 PMID:28492532 More... NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,252...19,630,085
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO DNA:transition:cds:g.677C>T (human) RGD PMID:19764075 RGD:4891157 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Midaortic syndrome ClinVar PMID:9536098 PMID:10712197 PMID:10862084 PMID:12552569 PMID:15146469 More... NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,171...43,754,176
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 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,426
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO mRNA:increased expression:aorta (rat) RGD PMID:22659116 RGD:12914785 NCBI chr 1:31,724,290...31,796,594
Ensembl chr 1:31,722,721...31,796,595
JBrowse link
G GATA5 GATA binding protein 5 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar NCBI chr17:61,824,891...61,834,742
Ensembl chr17:61,824,899...61,834,267
JBrowse link
G IL6 interleukin 6 severity ISO RGD PMID:23969418 RGD:12792206 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G NOTCH1 notch receptor 1 ISO OMIM
G SMAD6 SMAD family member 6 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:28492532 PMID:30796334 NCBI chr 1:164,652,602...164,735,084
Ensembl chr 1:164,657,086...164,735,083
JBrowse link
G TBX20 T-box transcription factor 20 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar NCBI chr18:38,635,603...38,681,690
Ensembl chr18:38,635,617...38,677,208
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 OMIM NCBI chr 9:52,083,757...52,097,784
Ensembl chr 9:52,083,008...52,097,744
JBrowse link
arrhythmogenic right ventricular 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: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar PMID:20890277 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr 5:51,536,531...51,673,583
Ensembl chr 5:51,536,526...51,673,583
JBrowse link
G ACTN2 actinin alpha 2 ISO DNA:polymorphism: :
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
RGD
ClinVar
PMID:11078270 PMID:25741868 RGD:13506947 NCBI chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,779
JBrowse link
G AKAP9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 9:71,895,615...72,054,898
Ensembl chr 9:71,895,630...72,054,897
JBrowse link
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr 8:109,306,793...109,661,970 JBrowse link
G BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, arrhythmogenic right ventricular dysplasia ClinVar PMID:21898660 PMID:23861362 PMID:25741868 PMID:28492532 PMID:29382405 More... NCBI chr14:129,510,240...129,533,998
Ensembl chr14:129,510,293...129,533,996
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:23861362 PMID:25447171 PMID:25661095 PMID:25741868 PMID:28492532 NCBI chr 5:69,016,954...69,448,428 JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 NCBI chr10:44,321,954...44,887,410
Ensembl chr10:44,421,666...44,885,424
JBrowse link
G CALR3 calreticulin 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:17655857 PMID:23861362 PMID:28492532 NCBI chr 2:61,105,307...61,136,060
Ensembl chr 2:61,105,303...61,134,961
JBrowse link
G CDH2 cadherin 2 ISO DNA:mutation:cds:c.1219G>A(p.D407N)(human)
DNA:missense mutations:cds:c.686A>C(p.Q229P), c.1219G>A (p.D407N)(human)
RGD PMID:28280076 PMID:28326674 RGD:13524622 RGD:13524623 NCBI chr 6:112,396,713...112,629,073
Ensembl chr 6:112,396,721...112,628,432
JBrowse link
G DES desmin ISO DNA:mutation:cds:c.1203G>C (p.E401D)(human)
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
RGD
ClinVar
PMID:24033266 PMID:25179549 PMID:25741868 PMID:28492532 PMID:29212896 RGD:13525009 NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,103...121,435,424
JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,223...29,181,689
JBrowse link
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia/cardiomyopathy
ClinVar PMID:7971964 PMID:17033975 PMID:17186466 PMID:17963498 PMID:18382419 More... NCBI chr 6:114,982,259...115,021,332
Ensembl chr 6:114,916,763...115,021,305
JBrowse link
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:2040044 PMID:16025435 PMID:16199547 PMID:16505173 PMID:16773573 More... NCBI chr 6:115,400,223...115,453,763
Ensembl chr 6:115,400,252...115,452,473
JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Cardiomyopathy, arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
RGD
ClinVar
PMID:9536098 PMID:10395892 PMID:10594734 PMID:11063735 PMID:12875771 More... RGD:1580890 NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,615
JBrowse link
G FHL2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr 3:49,389,900...49,448,459
Ensembl chr 3:49,363,555...49,467,527
JBrowse link
G GJA1 gap junction protein alpha 1 ISO protein:decreased expression:buccal mucosa
protein:altered expression:ventricle
RGD PMID:23178689 PMID:26850880 RGD:11352402 RGD:13592599 NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,515...41,002,137
JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr 7:60,010,396...60,052,258
Ensembl chr 7:60,010,482...60,053,823
JBrowse link
G IFT43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar NCBI chr 7:99,155,889...99,254,436 JBrowse link
G IL6R interleukin 6 receptor ISO protein:increased expression:serum RGD PMID:21859801 RGD:10402826 NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,426...95,381,282
JBrowse link
G JUP junction plakoglobin ISO protein:altered expression:ventricle
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
RGD
ClinVar
PMID:23178689 PMID:24033266 PMID:24884844 PMID:25741868 PMID:28098346 More... RGD:11352402 NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,211
JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar PMID:9328483 PMID:9354783 PMID:9354802 PMID:9445165 PMID:10400998 More... NCBI chr13:198,051,281...198,059,444 JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:15176425 PMID:16244680 PMID:22402334 PMID:22581653 PMID:25741868 More... NCBI chr18:6,242,826...6,279,154
Ensembl chr18:6,243,524...6,279,111
JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr 1:78,071,990...78,224,564
Ensembl chr 1:78,071,446...78,224,365
JBrowse link
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 NCBI chr14:87,660,961...87,722,249
Ensembl chr14:87,644,242...87,722,251
JBrowse link
G LMNA lamin A/C ISO DNA:duplication:cds:c.418_438dup (human)
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
RGD
ClinVar
PMID:22224630 PMID:22266370 PMID:22464770 PMID:23183350 PMID:23853504 More... RGD:11056513 NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:23861362 PMID:24033266 PMID:24093860 PMID:24793961 PMID:25031304 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,650,445...75,709,232
JBrowse link
G MYL2 myosin light chain 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:28611029 NCBI chr14:32,205,953...32,213,848
Ensembl chr14:32,196,883...32,213,760
JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:28492532 NCBI chr 6:103,451,206...103,593,093
Ensembl chr 6:103,451,343...103,597,324
JBrowse link
G MYPN myopalladin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr14:71,283,271...71,388,591
Ensembl chr14:71,298,907...71,394,600
JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Cardiomyopathy, arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia/cardiomyopathy
RGD
ClinVar
PMID:2412583 PMID:15489853 PMID:16101641 PMID:16199547 PMID:16415378 More... RGD:1580872 RGD:1580873 NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,168...39,292,018
JBrowse link
G RBM20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:23396983 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26498160 More... NCBI chr14:121,058,896...121,269,824 JBrowse link
G RYR2 ryanodine receptor 2 susceptibility ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Right ventricular cardiomyopathy
RGD
ClinVar
PMID:8589694 PMID:11159936 PMID:12093772 PMID:16769042 PMID:18326664 More... RGD:1578810 RGD:1599243 NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,245...54,406,355
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO protein:altered expression:ventricle
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia/cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
RGD
ClinVar
PMID:10973849 PMID:12354768 PMID:12820704 PMID:14523039 PMID:15466642 More... RGD:11352402 NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,338,124...23,438,385
JBrowse link
G SGCA sarcoglycan alpha ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr12:26,356,691...26,368,561
Ensembl chr12:26,356,773...26,371,601
JBrowse link
G TAX1BP3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25645515 PMID:25741868 PMID:32576985 NCBI chr12:49,754,162...49,759,026
Ensembl chr12:49,754,164...49,760,147
JBrowse link
G TGFB3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
RGD
ClinVar
PMID:7951245 PMID:23861362 PMID:25637381 PMID:25741868 PMID:28492532 RGD:1578811 NCBI chr 7:99,133,873...99,162,239
Ensembl chr 7:99,133,511...99,162,232
JBrowse link
G TMEM43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
RGD
ClinVar
PMID:10631146 PMID:18313022 PMID:18414213 PMID:19434073 PMID:19467449 More... RGD:1579676 NCBI chr13:70,397,069...70,417,213
Ensembl chr13:70,393,219...70,417,168
JBrowse link
G TMPO thymopoietin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:23861362 PMID:24033266 PMID:24375709 PMID:25741868 PMID:28074886 More... NCBI chr 5:85,317,648...85,346,528
Ensembl chr 5:85,315,477...85,346,565
JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar PMID:21887725 PMID:25741868 PMID:26820365 PMID:28492532 PMID:30391667 NCBI chr 6:54,342,774...54,377,557
Ensembl chr 6:54,342,221...54,377,155
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar PMID:18414213 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:18414213 PMID:19434073 PMID:21047201 PMID:22992668 PMID:23400628 More... NCBI chr13:70,348,841...70,397,194
Ensembl chr13:70,348,864...70,397,782
JBrowse link
arrhythmogenic right ventricular dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:25741868 NCBI chr 6:114,982,259...115,021,332
Ensembl chr 6:114,916,763...115,021,305
JBrowse link
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19569224 More... NCBI chr 6:115,400,223...115,453,763
Ensembl chr 6:115,400,252...115,452,473
JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:24070718 PMID:25741868 PMID:28492532 NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,615
JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:15519027 PMID:18533079 PMID:20414521 PMID:20624503 PMID:21415409 More... NCBI chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,539...15,270,104
JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868
JBrowse link
G PLEC plectin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:696,355...753,859
Ensembl chr 4:685,456...753,859
JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:25637381 PMID:25741868 PMID:28404607 PMID:28492532 NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,245...54,406,355
JBrowse link
G TGFB3 transforming growth factor beta 3 ISO OMIM NCBI chr 7:99,133,873...99,162,239
Ensembl chr 7:99,133,511...99,162,232
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 NCBI chr15:84,226,953...84,501,320 JBrowse link
arrhythmogenic right ventricular dysplasia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSG2 desmoglein 2 ISO OMIM NCBI chr 6:115,400,223...115,453,763
Ensembl chr 6:115,400,252...115,452,473
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 ClinVar PMID:25741868 NCBI chr12:11,662,344...11,681,490
Ensembl chr12:11,662,347...11,681,202
JBrowse link
G TTR transthyretin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 ClinVar PMID:28492532 NCBI chr 6:115,496,338...115,503,974
Ensembl chr 6:115,496,193...115,503,977
JBrowse link
arrhythmogenic right ventricular dysplasia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSC2 desmocollin 2 ISO OMIM NCBI chr 6:114,982,259...115,021,332
Ensembl chr 6:114,916,763...115,021,305
JBrowse link
arrhythmogenic right ventricular dysplasia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JUP junction plakoglobin ISO OMIM NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,211
JBrowse link
arrhythmogenic right ventricular dysplasia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNNA3 catenin alpha 3 ISO OMIM NCBI chr14:69,195,231...70,974,543
Ensembl chr14:69,200,215...70,938,204
JBrowse link
G LRRTM3 leucine rich repeat transmembrane neuronal 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 13 ClinVar NCBI chr14:70,172,460...70,352,073
Ensembl chr14:70,172,731...70,348,040
JBrowse link
arrhythmogenic right ventricular dysplasia 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH2 cadherin 2 ISO OMIM NCBI chr 6:112,396,713...112,629,073
Ensembl chr 6:112,396,721...112,628,432
JBrowse link
arrhythmogenic right ventricular dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RYR2 ryanodine receptor 2 ISO OMIM NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,245...54,406,355
JBrowse link
arrhythmogenic right ventricular dysplasia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM43 transmembrane protein 43 ISO OMIM NCBI chr13:70,397,069...70,417,213
Ensembl chr13:70,393,219...70,417,168
JBrowse link
arrhythmogenic right ventricular dysplasia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin ISO OMIM NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,615
JBrowse link
arrhythmogenic right ventricular dysplasia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DES desmin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868 NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,103...121,435,424
JBrowse link
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar NCBI chr 6:114,982,259...115,021,332
Ensembl chr 6:114,916,763...115,021,305
JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868 PMID:25820315 PMID:28492532 NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,615
JBrowse link
G FGD4 FYVE, RhoGEF and PH domain containing 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9
ClinVar PMID:27066507 PMID:28492532 NCBI chr 5:41,683,265...41,879,197 JBrowse link
G FGD4 FYVE, RhoGEF and PH domain containing 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9
ClinVar PMID:27066507 PMID:28492532 NCBI chr 5:41,571,054...41,636,058 JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868 NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,650,445...75,709,232
JBrowse link
G PKP2 plakophilin 2 ISO OMIM NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868
JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 ClinVar PMID:14519435 PMID:24033266 PMID:24503780 PMID:25741868 PMID:27532257 More... NCBI chr18:5,475,077...5,744,761
Ensembl chr18:5,475,077...5,744,658
JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868 NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,245...54,406,355
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9
ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26567375 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9
ClinVar PMID:27066507 PMID:28492532 NCBI chr 5:41,561,563...41,584,534
Ensembl chr 5:41,561,626...41,584,818
JBrowse link
atrial heart septal defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr 2:41,666,974...41,754,624
Ensembl chr 2:41,666,909...41,754,620
JBrowse link
G ACTC1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar NCBI chr 1:136,281,119...136,286,551
Ensembl chr 1:136,281,167...136,286,545
JBrowse link
G ACTL6A actin like 6A ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 PMID:28649782 NCBI chr13:117,598,415...117,627,311
Ensembl chr13:117,598,493...117,628,493
JBrowse link
G BMP4 bone morphogenetic protein 4 susceptibility ISO DNA:SNP: :rs762642(human) RGD PMID:25022354 RGD:13442496 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,134...183,792,417
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,571,874...72,754,432
JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr15:93,611,856...93,981,131
Ensembl chr15:93,611,856...93,981,110
JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,230
JBrowse link
G ERF ETS2 repressor factor ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr 6:49,678,858...49,686,422
Ensembl chr 6:49,678,871...49,685,538
JBrowse link
G GATA4 GATA binding protein 4 ISO DNA:missense mutation: :p.G21V (human)
ClinVar Annotator: match by term: Atrial septal defect
RGD
ClinVar
PMID:21373748 PMID:25741868 RGD:7207050 NCBI chr14:14,858,470...14,938,156
Ensembl chr14:14,858,159...14,939,941
JBrowse link
G HDAC8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr  X:58,210,182...58,450,681 JBrowse link
G MN1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 PMID:31834374 NCBI chr14:45,093,660...45,142,476
Ensembl chr14:45,096,485...45,140,570
JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,650,445...75,709,232
JBrowse link
G MYLK myosin light chain kinase ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:21055718 PMID:24033266 PMID:28492532 PMID:29543232 NCBI chr13:136,509,878...136,809,674
Ensembl chr13:136,508,808...136,809,674
JBrowse link
G NKX2-5 NK2 homeobox 5 ISO DNA:frameshift mutation, missense mutations: :p.P43Gfs*59, p.C46W, p.S179F (human)
ClinVar Annotator: match by term: Atrial septal defect
DNA:frameshift mutation:exon:p.G206Fs*231 (human)
RGD
ClinVar
PMID:18414213 PMID:18976153 PMID:19181906 PMID:19464101 PMID:20981092 More... RGD:12914794 RGD:12914795 NCBI chr16:51,086,014...51,089,165
Ensembl chr16:51,086,011...51,089,165
JBrowse link
G PQBP1 polyglutamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16740914 NCBI chr  X:42,976,086...42,981,732
Ensembl chr  X:42,975,410...42,981,725
JBrowse link
G SETBP1 SET binding protein 1 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr 1:94,295,332...94,666,560
Ensembl chr 1:94,295,637...94,663,029
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:28492532 NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,298
JBrowse link
atrial heart septal defect 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXP1 forkhead box P1 ISO ClinVar Annotator: match by term: Atrial septal defect 1 ClinVar NCBI chr13:52,346,844...52,974,358
Ensembl chr13:52,347,849...52,974,261
JBrowse link
G TBX5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: ASD II
ClinVar Annotator: match by term: Atrial septal defect 1
ClinVar PMID:25741868 PMID:29555671 NCBI chr14:37,772,205...37,826,015
Ensembl chr14:37,773,605...37,824,400
JBrowse link
G TGFB2 transforming growth factor beta 2 ISO ClinVar Annotator: match by term: Atrial septal defect 1 ClinVar NCBI chr10:8,306,136...8,435,307
Ensembl chr10:8,305,424...8,405,771
JBrowse link
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Atrial septal defect 1 ClinVar PMID:28359939 NCBI chr 1:108,986,981...109,016,090
Ensembl chr 1:108,986,981...109,019,440
JBrowse link
atrial heart septal defect 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA4 GATA binding protein 4 ISO OMIM NCBI chr14:14,858,470...14,938,156
Ensembl chr14:14,858,159...14,939,941
JBrowse link
atrial heart septal defect 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBX20 T-box transcription factor 20 ISO OMIM NCBI chr18:38,635,603...38,681,690
Ensembl chr18:38,635,617...38,677,208
JBrowse link
atrial heart septal defect 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTC1 actin alpha cardiac muscle 1 ISO OMIM NCBI chr 1:136,281,119...136,286,551
Ensembl chr 1:136,281,167...136,286,545
JBrowse link
atrial heart septal defect 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TLL1 tolloid like 1 ISO OMIM NCBI chr 8:42,855,883...43,094,215
Ensembl chr 8:42,856,469...43,092,692
JBrowse link
atrial heart septal defect 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKX2-5 NK2 homeobox 5 ISO OMIM NCBI chr16:51,086,014...51,089,165
Ensembl chr16:51,086,011...51,089,165
JBrowse link
atrial heart septal defect 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO OMIM NCBI chr 1:25,155,652...25,158,517
Ensembl chr 1:25,155,664...25,160,279
JBrowse link
atrial heart septal defect 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA6 GATA binding protein 6 ISO OMIM NCBI chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,847...107,314,634
JBrowse link
Atrial Septal Defect with Atrioventricular Conduction Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:10587520 PMID:10903346 PMID:11714651 PMID:14607454 PMID:16418214 More... NCBI chr16:51,086,014...51,089,165
Ensembl chr16:51,086,011...51,089,165
JBrowse link
atrioventricular septal defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Atrioventricular septal defect ClinVar PMID:25741868 NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,571,874...72,754,432
JBrowse link
G ELN elastin ISO ClinVar Annotator: match by term: Atrioventricular septal defect ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,073...11,244,897
JBrowse link
G FOXP1 forkhead box P1 ISO ClinVar Annotator: match by term: ENDOCARDIAL CUSHION DEFECT ClinVar PMID:25741868 NCBI chr13:52,346,844...52,974,358
Ensembl chr13:52,347,849...52,974,261
JBrowse link
G GATA4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:14,858,470...14,938,156
Ensembl chr14:14,858,159...14,939,941
JBrowse link
G GATA6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,847...107,314,634
JBrowse link
G GJA1 gap junction protein alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,515...41,002,137
JBrowse link
G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, somatic ClinVar PMID:15342699 PMID:15917268 NCBI chr16:51,086,014...51,089,165
Ensembl chr16:51,086,011...51,089,165
JBrowse link
G NR1D2 nuclear receptor subfamily 1 group D member 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect ClinVar PMID:27058611 NCBI chr13:10,756,954...10,791,219
Ensembl chr13:10,756,926...10,791,210
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:19538633 RGD:12801428 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,718...2,555,484
JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr15:118,627,734...118,688,005
Ensembl chr15:118,629,238...118,687,940
JBrowse link
G TBX5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect ClinVar PMID:25741868 NCBI chr14:37,772,205...37,826,015
Ensembl chr14:37,773,605...37,824,400
JBrowse link
Atrioventricular Septal Defect 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARPC4 actin related protein 2/3 complex subunit 4 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr13:66,075,926...66,093,986
Ensembl chr13:66,055,364...66,100,310
JBrowse link
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr13:66,315,438...66,324,641
Ensembl chr13:66,315,433...66,324,174
JBrowse link
G BRPF1 bromodomain and PHD finger containing 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr13:66,021,047...66,037,446
Ensembl chr13:66,021,301...66,037,427
JBrowse link
G CAMK1 calcium/calmodulin dependent protein kinase I ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr13:66,044,713...66,055,290
Ensembl chr13:66,044,713...66,055,295
JBrowse link
G CIDEC cell death inducing DFFA like effector c ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr13:66,141,836...66,149,801
Ensembl chr13:66,141,838...66,149,703
JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 susceptibility ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2
ClinVar Annotator: match by term: CRELD1-related condition
OMIM
ClinVar
PMID:11376440 PMID:12632326 PMID:15857420 PMID:17036335 PMID:23040494 More... NCBI chr13:66,194,795...66,203,419
Ensembl chr13:66,194,865...66,203,412
JBrowse link
G EMC3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr13:66,221,844...66,241,963
Ensembl chr13:66,217,970...66,241,935
JBrowse link
G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr13:66,241,951...66,308,601
Ensembl chr13:66,241,673...66,310,436
JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr13:66,309,350...66,312,965
Ensembl chr13:66,308,667...66,312,846
JBrowse link
G IL17RC interleukin 17 receptor C ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr13:66,179,298...66,194,750 JBrowse link
G IL17RE interleukin 17 receptor E ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr13:66,164,492...66,177,967 JBrowse link
G JAGN1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr13:66,154,855...66,158,329 JBrowse link
G MTMR14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr13:65,948,520...65,994,231
Ensembl chr13:65,948,542...66,019,078
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr13:66,038,669...66,045,478 JBrowse link
G PRRT3 proline rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr13:66,200,400...66,211,595
Ensembl chr13:66,200,797...66,211,449
JBrowse link
G RPUSD3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr13:66,126,126...66,133,774
Ensembl chr13:66,126,122...66,133,749
JBrowse link
G TADA3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr13:66,067,623...66,080,170
Ensembl chr13:66,067,632...66,080,023
JBrowse link
G TTLL3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr13:66,094,069...66,123,984 JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654
JBrowse link
Atrioventricular Septal Defect 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO OMIM NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,515...41,002,137
JBrowse link
Atrioventricular Septal Defect 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA4 GATA binding protein 4 ISO OMIM NCBI chr14:14,858,470...14,938,156
Ensembl chr14:14,858,159...14,939,941
JBrowse link
Atrioventricular Septal Defect 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA6 GATA binding protein 6 ISO OMIM NCBI chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,847...107,314,634
JBrowse link
Au-Kline Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,230
JBrowse link
G HNRNPK heterogeneous nuclear ribonucleoprotein K ISO OMIM NCBI chr10:30,975,639...30,987,955
Ensembl chr10:30,975,693...30,987,940
JBrowse link
G MED13L mediator complex subunit 13L ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar NCBI chr14:36,061,834...36,384,567
Ensembl chr14:36,064,067...36,384,562
JBrowse link
Barth syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Barth syndrome
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar PMID:9345098 PMID:9536098 PMID:11238270 PMID:15793838 PMID:16199547 More... NCBI chr  X:124,931,410...124,937,569
Ensembl chr  X:124,931,408...124,939,965
JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO OMIM NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,947,241
JBrowse link
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G THOC6 THO complex 6 ISO OMIM NCBI chr 3:39,161,442...39,164,631
Ensembl chr 3:39,161,434...39,168,302
JBrowse link
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DUSP29 dual specificity phosphatase 29 ISO ClinVar Annotator: match by term: Young Simpson syndrome
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type
ClinVar PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23236640 More... NCBI chr14:77,602,871...77,643,109
Ensembl chr14:77,602,870...77,643,114
JBrowse link
G KAT6B lysine acetyltransferase 6B ISO OMIM NCBI chr14:77,390,790...77,597,674
Ensembl chr14:77,375,758...77,597,674
JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:32694869 NCBI chr 1:219,624,773...219,815,438
Ensembl chr 1:219,573,535...219,815,421
JBrowse link
Burn-McKeown syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADNP2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 6:128,071,503...128,113,292
Ensembl chr 6:128,030,715...128,113,288
JBrowse link
G ATP9B ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:146,022,975...146,228,847
Ensembl chr 1:146,022,975...146,221,770
JBrowse link
G CTDP1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:145,769,763...145,811,673
Ensembl chr 1:145,769,768...145,811,678
JBrowse link
G GALR1 galanin receptor 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:147,442,977...147,466,731
Ensembl chr 1:147,443,821...147,463,542
JBrowse link
G HSBP1L1 heat shock factor binding protein 1 like 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 6:127,960,330...127,972,241
Ensembl chr 6:127,960,195...127,973,195
JBrowse link
G KCNG2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 6:127,830,032...127,891,294
Ensembl chr 6:127,830,196...127,890,915
JBrowse link
G MBP myelin basic protein ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:147,649,516...147,685,289
Ensembl chr 1:147,568,673...147,685,288
JBrowse link
G NFATC1 nuclear factor of activated T cells 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:145,940,099...146,002,897
Ensembl chr 1:145,911,045...146,017,701
JBrowse link
G PARD6G par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 6:128,161,610...128,250,708
Ensembl chr 6:128,162,600...128,250,663
JBrowse link
G RBFA ribosome binding factor A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 6:128,030,397...128,048,061
Ensembl chr 6:128,030,723...128,053,494
JBrowse link
G SALL3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:146,251,591...146,273,778
Ensembl chr 1:146,252,154...146,274,620
JBrowse link
G SLC66A2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 6:127,894,111...127,952,268
Ensembl chr 6:127,889,528...127,952,225
JBrowse link
G TXNL4A thioredoxin like 4A ISO OMIM NCBI chr 6:127,975,164...127,991,112
Ensembl chr 6:127,974,670...127,991,117
JBrowse link
G ZNF236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:147,690,545...147,782,162
Ensembl chr 1:147,690,556...147,782,129
JBrowse link
G ZNF516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:147,987,660...148,100,788
Ensembl chr 1:147,984,481...148,090,708
JBrowse link
Cardiac-Urogenital Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYRF myelin regulatory factor ISO OMIM NCBI chr 2:9,761,230...9,795,873 JBrowse link
Cardioacrofacial Dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRKACA protein kinase cAMP-activated catalytic subunit alpha ISO OMIM NCBI chr 2:65,074,876...65,095,564
Ensembl chr 2:65,074,870...65,095,553
JBrowse link
Cardioacrofacial Dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRKACB protein kinase cAMP-activated catalytic subunit beta ISO OMIM NCBI chr 6:129,520,397...129,636,207
Ensembl chr 6:129,519,962...129,635,517
JBrowse link
cardiofaciocutaneous syndrome 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
ClinVar Annotator: match by term: CFC syndrome
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome
DNA:mutation:cds:p.Q241R(mouse)
DNA:mutations:cds:multiple(human)
CTD
ClinVar
RGD
PMID:4386970 PMID:5771505 PMID:8042262 PMID:12068308 PMID:12198537 More... RGD:11352608 RGD:11567236 RGD:1600471 NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17703371 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO DNA:missense mutations:CDS:p.G60R, p.D153V (human)
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:16474404 PMID:17056636 PMID:17703371 PMID:20186801 PMID:20949621 More... RGD:1600471 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
ClinVar Annotator: match by term: CFC syndrome
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome
CTD
ClinVar
PMID:1804226 PMID:16439621 PMID:17366577 PMID:17551924 PMID:17567882 More... NCBI chr 1:164,381,892...164,469,313
Ensembl chr 1:164,381,845...164,471,226
JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome
CTD
ClinVar
PMID:16439621 PMID:17703371 PMID:17981815 PMID:18039235 PMID:18042262 More... NCBI chr 2:74,626,739...74,651,352
Ensembl chr 2:74,626,658...74,651,348
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome
CTD
ClinVar
PMID:17703371 NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,168...39,292,018
JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar NCBI chr 4:94,117,721...94,127,882
Ensembl chr 4:94,098,275...94,127,384
JBrowse link
G SNAPC5 small nuclear RNA activating complex polypeptide 5 ISO ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar NCBI chr 1:164,459,111...164,475,053
Ensembl chr 1:164,466,973...164,474,978
JBrowse link
cardiofaciocutaneous syndrome 1 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 OMIM NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 ClinVar PMID:8234268 PMID:17056636 PMID:18958496 PMID:21784453 PMID:24033266 More... NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 ClinVar PMID:17366577 PMID:24719372 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 2:74,626,739...74,651,352
Ensembl chr 2:74,626,658...74,651,348
JBrowse link
cardiofaciocutaneous syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRAS KRAS proto-oncogene, GTPase ISO OMIM NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
cardiofaciocutaneous syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO OMIM NCBI chr 1:164,381,892...164,469,313
Ensembl chr 1:164,381,845...164,471,226
JBrowse link
cardiofaciocutaneous syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO OMIM NCBI chr 2:74,626,739...74,651,352
Ensembl chr 2:74,626,658...74,651,348
JBrowse link
Cardiofacioneurodevelopmental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC32 coiled-coil domain containing 32 ISO OMIM NCBI chr 1:130,753,107...130,764,747
Ensembl chr 1:130,753,186...130,764,746
JBrowse link
Carvajal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin ISO OMIM NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,615
JBrowse link
Char syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TFAP2B transcription factor AP-2 beta ISO OMIM NCBI chr 7:44,745,653...44,774,563
Ensembl chr 7:44,745,422...44,770,609
JBrowse link
CHIME syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIGL phosphatidylinositol glycan anchor biosynthesis class L ISO OMIM NCBI chr12:59,217,267...59,256,896
Ensembl chr12:59,201,556...59,256,824
JBrowse link
CHOPS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFF4 AF4/FMR2 family member 4 ISO OMIM NCBI chr 2:135,196,067...135,283,931
Ensembl chr 2:135,200,076...135,283,916
JBrowse link
chromosome 22q11.2 deletion syndrome, distal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC116 coiled-coil domain containing 116 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr14:50,255,859...50,260,743 JBrowse link
G LOC100153093 RIMS-binding protein 3A ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr14:50,323,037...50,331,111 JBrowse link
G LOC110256677 zinc finger protein 280A-like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr14:48,882,955...48,888,138 JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,523
JBrowse link
G PPIL2 peptidylprolyl isomerase like 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr14:50,206,807...50,232,845
Ensembl chr14:50,201,444...50,232,827
JBrowse link
G PPM1F protein phosphatase, Mg2+/Mn2+ dependent 1F ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr14:50,040,612...50,083,047
Ensembl chr14:50,040,663...50,063,326
JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr14:48,901,097...48,906,855 JBrowse link
G SDF2L1 stromal cell derived factor 2 like 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr14:50,249,607...50,251,636 JBrowse link
G TMEM191C transmembrane protein 191C ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr14:50,378,957...50,383,573 JBrowse link
G TOP3B DNA topoisomerase III beta ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr14:50,020,412...50,037,854 JBrowse link
G UBE2L3 ubiquitin conjugating enzyme E2 L3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr14:50,265,102...50,315,409 JBrowse link
G VPREB1 V-set pre-B cell surrogate light chain 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr14:49,972,058...49,972,768
Ensembl chr14:49,970,340...49,972,741
JBrowse link
G YDJC YdjC chitooligosaccharide deacetylase homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr14:50,260,813...50,262,553
Ensembl chr14:50,260,788...50,262,550
JBrowse link
G YPEL1 yippee like 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:31690835 NCBI chr14:50,190,641...50,208,732
Ensembl chr14:50,190,642...50,206,328
JBrowse link
cleft palate, cardiac defects, and intellectual disabillity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEIS2 Meis homeobox 2 ISO OMIM NCBI chr 1:134,013,642...134,223,013
Ensembl chr 1:134,013,820...134,223,012
JBrowse link
Common Ventricle term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Single ventricle ClinVar PMID:19948535 PMID:25742962 PMID:28492532 PMID:29037160 PMID:30611920 NCBI chr16:51,086,014...51,089,165
Ensembl chr16:51,086,011...51,089,165
JBrowse link
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRKD1 protein kinase D1 ISO OMIM NCBI chr 7:69,527,743...69,872,374
Ensembl chr 7:69,527,910...69,872,865
JBrowse link
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO OMIM NCBI chr 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,711
JBrowse link
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK13 cyclin dependent kinase 13 ISO OMIM NCBI chr18:54,310,311...54,430,060
Ensembl chr18:54,308,144...54,429,939
JBrowse link
congenital heart defects, hamartomas of tongue, and polysyndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDPCP WD repeat containing planar cell polarity effector ISO OMIM NCBI chr 3:78,435,154...78,726,313 JBrowse link
Congenital Heart Defects, Multiple Types, 1, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZIC3 Zic family member 3 ISO OMIM NCBI chr  X:112,592,951...112,605,087
Ensembl chr  X:112,592,953...112,604,068
JBrowse link
Congenital Heart Defects, Multiple Types, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 ISO OMIM NCBI chr 1:16,533,364...16,611,879
Ensembl chr 1:16,533,284...16,611,884
JBrowse link
Congenital Heart Defects, Multiple Types, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 3 ClinVar PMID:21876083 PMID:24713400 PMID:25741868 PMID:26467025 PMID:26580448 More... NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,926,613...45,967,296
JBrowse link
Congenital Heart Defects, Multiple Types, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NR2F2 nuclear receptor subfamily 2 group F member 2 ISO OMIM NCBI chr 7:83,076,119...83,090,250
Ensembl chr 7:83,076,144...83,090,536
JBrowse link
Congenital Heart Defects, Multiple Types, 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA5 GATA binding protein 5 ISO OMIM NCBI chr17:61,824,891...61,834,742
Ensembl chr17:61,824,899...61,834,267
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 OMIM NCBI chr 2:78,076,008...78,115,137
Ensembl chr 2:78,076,080...78,115,137
JBrowse link
Congenitally Corrected Transposition of the Great Arteries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NODAL nodal growth differentiation factor ISO ClinVar Annotator: match by term: Congenitally corrected transposition of the great arteries ClinVar PMID:25741868 NCBI chr14:73,350,358...73,357,064
Ensembl chr14:73,349,965...73,360,618
JBrowse link
Conotruncal Cardiac Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADD1 adducin 1 ISO DNA:SNP: :p.G460W (human) RGD PMID:16100725 RGD:5147996 NCBI chr 8:1,627,146...1,710,653
Ensembl chr 8:1,627,177...1,710,661
JBrowse link
G FOXH1 forkhead box H1 ISO ClinVar Annotator: match by term: Conotruncal defect ClinVar PMID:25741868 PMID:32003456 NCBI chr 4:320,610...324,570
Ensembl chr 4:320,537...324,481
JBrowse link
G GATA6 GATA binding protein 6 ISO OMIM NCBI chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,847...107,314,634
JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association ISO DNA:SNPs:cds:c.677C>T,c.1298A>C (human) RGD PMID:12705333 RGD:11565174 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G NKX2-5 NK2 homeobox 5 ISO OMIM NCBI chr16:51,086,014...51,089,165
Ensembl chr16:51,086,011...51,089,165
JBrowse link
G NKX2-6 NK2 homeobox 6 ISO OMIM NCBI chr14:7,811,200...7,815,553
Ensembl chr14:7,811,200...7,815,553
JBrowse link
G TBX1 T-box transcription factor 1 ISO OMIM NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,143...51,296,725
JBrowse link
Coronary Vessel Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCLC glutamate-cysteine ligase catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:12598062 NCBI chr 7:27,209,565...27,253,535
Ensembl chr 7:27,209,564...27,253,535
JBrowse link
Deafness, Congenital Heart Defects, and Posterior Embryotoxon term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JAG1 jagged canonical Notch ligand 1 ISO OMIM NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,252...19,630,085
JBrowse link
developmental cardiac valvular defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP:cds:p.R653Q(c.1958G>A)(human) RGD PMID:18767138 RGD:12910957 NCBI chr 7:88,471,317...88,533,690
Ensembl chr 7:88,471,414...88,537,600
JBrowse link
G PLD1 phospholipase D1 ISO OMIM NCBI chr13:110,152,268...110,376,319
Ensembl chr13:110,087,051...110,376,319
JBrowse link
dextro-looped transposition of the great arteries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR1B activin A receptor type 1B ISO ClinVar Annotator: match by term: Transposition of the great arteries, dextro-looped 1 ClinVar NCBI chr 5:17,314,322...17,350,726
Ensembl chr 5:17,314,290...17,350,722
JBrowse link
G GDF1 growth differentiation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17924340 NCBI chr 2:58,972,918...58,976,294
Ensembl chr 2:58,951,726...58,974,672
JBrowse link
G MED13L mediator complex subunit 13L ISO ClinVar Annotator: match by term: Transposition of the great arteries, dextro-looped 1 RGD
ClinVar
PMID:9536098 PMID:14638541 PMID:16199547 PMID:17576681 PMID:23403903 More... RGD:1580649 NCBI chr14:36,061,834...36,384,567
Ensembl chr14:36,064,067...36,384,562
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: : rs1801133(human) RGD PMID:22868813 RGD:11565105 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G SLC19A1 solute carrier family 19 member 1 susceptibility ISO DNA:SNP: : (rs1051266) (human) RGD PMID:22868813 RGD:11565105 NCBI chr13:207,986,094...208,007,855
Ensembl chr13:207,986,098...208,007,675
JBrowse link
dextrocardia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFAP53 cilia and flagella associated protein 53 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar PMID:26531781 NCBI chr 1:99,848,184...99,900,001 JBrowse link
G MYRF myelin regulatory factor ISO ClinVar Annotator: match by term: Dextrocardia ClinVar PMID:25741868 PMID:30532227 NCBI chr 2:9,761,230...9,795,873 JBrowse link
G RAI2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr  X:14,246,776...14,633,071
Ensembl chr  X:14,244,279...14,309,143
JBrowse link
G ROCK2 Rho associated coiled-coil containing protein kinase 2 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr 3:125,353,063...125,493,368
Ensembl chr 3:125,353,119...125,491,963
JBrowse link
G SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr 7:77,780,968...77,814,519
Ensembl chr 7:77,781,316...77,814,505
JBrowse link
G ZFYVE16 zinc finger FYVE-type containing 16 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr 2:89,044,860...89,109,237
Ensembl chr 2:89,045,612...89,106,977
JBrowse link
G ZIC3 Zic family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17127413 NCBI chr  X:112,592,951...112,605,087
Ensembl chr  X:112,592,953...112,604,068
JBrowse link
DiGeorge syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM3 apoptosis inducing factor mitochondria associated 3 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr14:50,562,611...50,576,273
Ensembl chr14:50,562,613...50,576,274
JBrowse link
G ALDH1A2 aldehyde dehydrogenase 1 family member A2 ISO RGD PMID:12563036 RGD:734550 NCBI chr 1:113,932,722...114,037,059
Ensembl chr 1:113,715,620...114,037,249
JBrowse link
G ARVCF ARVCF delta catenin family member ISO ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar Annotator: match by term: DiGeorge sequence
RGD
ClinVar
PMID:9126485 PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 More... RGD:1578806 NCBI chr14:51,403,215...51,440,036
Ensembl chr14:51,403,923...51,440,059
JBrowse link
G BCR BCR activator of RhoGEF and GTPase ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:49,208,662...49,322,109
Ensembl chr14:49,208,762...49,322,109
JBrowse link
G C14H22orf39 chromosome 14 C22orf39 homolog ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:11239417 PMID:11242049 PMID:21921585 PMID:24826987 PMID:25205790 More... NCBI chr14:51,106,984...51,112,385 JBrowse link
G CCDC116 coiled-coil domain containing 116 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,255,859...50,260,743 JBrowse link
G CDC45 cell division cycle 45 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:11239417 PMID:11242049 PMID:21921585 PMID:24826987 PMID:25205790 More... NCBI chr14:51,133,111...51,158,604
Ensembl chr14:51,133,408...51,158,606
JBrowse link
G CLDN5 claudin 5 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:11239417 PMID:11242049 PMID:21921585 PMID:24826987 PMID:25205790 More... NCBI chr14:51,161,490...51,162,382
Ensembl chr14:51,161,032...51,163,482
JBrowse link
G COMT catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar Annotator: match by term: DiGeorge sequence
CTD
ClinVar
PMID:8886163 PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 More... NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,133...51,403,998
JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar Annotator: match by term: DiGeorge sequence
CTD
ClinVar
PMID:11239417 PMID:11242049 PMID:16399080 PMID:24826987 PMID:25205790 More... NCBI chr14:50,528,950...50,558,664
Ensembl chr14:50,528,954...50,558,663
JBrowse link
G DGCR2 DiGeorge syndrome critical region gene 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar Annotator: match by term: DiGeorge sequence
CTD
ClinVar
PMID:11239417 PMID:11242049 PMID:21921585 PMID:24826987 PMID:25205790 More... NCBI chr14:50,881,260...50,935,603 JBrowse link
G DGCR6L DiGeorge syndrome critical region gene 6 like ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr14:51,644,840...51,657,368 JBrowse link
G DGCR8 DGCR8 microprocessor complex subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar Annotator: match by term: DiGeorge sequence
CTD
ClinVar
PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr14:51,473,512...51,489,535
Ensembl chr14:51,452,364...51,489,534
JBrowse link
G DVL1 dishevelled segment polarity protein 1 ISO RGD PMID:8644734 RGD:1580898 NCBI chr 6:63,617,787...63,628,965
Ensembl chr 6:63,617,789...63,629,229
JBrowse link
G ESS2 ess-2 splicing factor homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar Annotator: match by term: DiGeorge sequence
CTD
ClinVar
PMID:11239417 PMID:11242049 PMID:21921585 PMID:24826987 PMID:25205790 More... NCBI chr14:50,945,121...50,956,018
Ensembl chr14:50,945,122...50,955,983
JBrowse link
G FGF8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16399080 NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,210...112,814,134
JBrowse link
G GGT1 gamma-glutamyltransferase 1 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:31690835 PMID:32581362 NCBI chr14:49,618,737...49,638,054 JBrowse link
G GNAZ G protein subunit alpha z ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:49,132,012...49,174,114
Ensembl chr14:49,132,013...49,174,109
JBrowse link
G GNB1L G protein subunit beta 1 like ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr14:51,306,561...51,343,040
Ensembl chr14:51,305,005...51,343,029
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:11239417 PMID:11242049 PMID:21921585 PMID:24826987 PMID:25205790 More... NCBI chr14:51,261,097...51,261,903
Ensembl chr14:51,260,963...51,262,114
JBrowse link
G GSC2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:11239417 PMID:11242049 PMID:21921585 PMID:24826987 PMID:25205790 More... NCBI chr14:50,956,315...50,960,424
Ensembl chr14:50,956,326...50,960,420
JBrowse link
G HIC2 HIC ZBTB transcriptional repressor 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,347,575...50,373,007
Ensembl chr14:50,365,851...50,368,634
JBrowse link
G HIRA histone cell cycle regulator ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:11239417 PMID:11242049 PMID:21921585 PMID:24826987 PMID:25205790 More... NCBI chr14:51,029,117...51,102,409
Ensembl chr14:51,029,126...51,102,506
JBrowse link
G KAT6A lysine acetyltransferase 6A ISO RGD PMID:22921202 RGD:9590333 NCBI chr17:11,002,818...11,109,974 JBrowse link
G KLHL22 kelch like family member 22 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr14:50,773,917...50,809,991 JBrowse link
G LOC100153093 RIMS-binding protein 3A ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,323,037...50,331,111 JBrowse link
G LOC100523213 immunoglobulin lambda-like polypeptide 5 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:49,951,542...49,960,517 JBrowse link
G LOC110256626 proline dehydrogenase 1, mitochondrial ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:11239417 PMID:11242049 PMID:21921585 PMID:24826987 PMID:25205790 More... NCBI chr14:51,624,919...51,644,467 JBrowse link
G LOC110256677 zinc finger protein 280A-like ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:48,882,955...48,888,138 JBrowse link
G LZTR1 leucine zipper like transcription regulator 1 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,569,746...50,589,787
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,523
JBrowse link
G MED15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr14:50,703,010...50,759,310
Ensembl chr14:50,703,012...50,759,283
JBrowse link
G MICAL3 microtubule associated monooxygenase, calponin and LIM domain containing 3 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr 5:69,887,884...70,132,969
Ensembl chr 5:69,887,884...70,133,277
JBrowse link
G MRPL40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:11239417 PMID:11242049 PMID:21921585 PMID:24826987 PMID:25205790 More... NCBI chr14:51,102,900...51,105,769
Ensembl chr14:51,102,613...51,105,767
JBrowse link
G P2RX6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:31690835 PMID:32581362 NCBI chr14:50,595,876...50,633,536
Ensembl chr14:50,623,708...50,632,260
JBrowse link
G PEX26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr 5:70,133,024...70,142,515
Ensembl chr 5:70,133,022...70,180,433
JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr14:50,390,416...50,491,983
Ensembl chr14:50,390,408...50,491,950
JBrowse link
G PPIL2 peptidylprolyl isomerase like 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,206,807...50,232,845
Ensembl chr14:50,201,444...50,232,827
JBrowse link
G PPM1F protein phosphatase, Mg2+/Mn2+ dependent 1F ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,040,612...50,083,047
Ensembl chr14:50,040,663...50,063,326
JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:48,901,097...48,906,855 JBrowse link
G RAB36 RAB36, member RAS oncogene family ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:49,186,282...49,202,334
Ensembl chr14:49,150,598...49,200,410
JBrowse link
G RANBP1 RAN binding protein 1 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr14:51,494,258...51,500,420
Ensembl chr14:51,494,258...51,500,419
JBrowse link
G RSPH14 radial spoke head 14 homolog ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:49,123,934...49,186,157
Ensembl chr14:49,123,935...49,184,735
JBrowse link
G RTL10 retrotransposon Gag like 10 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr14:51,338,134...51,342,383 JBrowse link
G RTN4R reticulon 4 receptor ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr14:51,579,043...51,603,180
Ensembl chr14:51,575,015...51,602,968
JBrowse link
G SCARF2 scavenger receptor class F member 2 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr14:50,813,161...50,824,434
Ensembl chr14:50,813,127...50,825,893
JBrowse link
G SDF2L1 stromal cell derived factor 2 like 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,249,607...50,251,636 JBrowse link
G SEPTIN5 septin 5 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:11239417 PMID:11242049 PMID:21921585 PMID:24826987 PMID:25205790 More... NCBI chr14:51,252,815...51,260,851 JBrowse link
G SERPIND1 serpin family D member 1 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr14:50,427,121...50,436,470
Ensembl chr14:50,416,309...50,436,470
JBrowse link
G SLC25A1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:11239417 PMID:11242049 PMID:21921585 PMID:24826987 PMID:25205790 More... NCBI chr14:50,974,616...51,002,970
Ensembl chr14:50,974,617...51,002,887
JBrowse link
G SLC7A4 solute carrier family 7 member 4 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:31690835 PMID:32581362 NCBI chr14:50,631,693...50,638,381
Ensembl chr14:50,633,878...50,637,404
JBrowse link
G SNAP29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr14:50,492,187...50,511,475
Ensembl chr14:50,492,154...50,511,456
JBrowse link
G TANGO2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr14:51,443,597...51,464,370
Ensembl chr14:51,443,615...51,464,370
JBrowse link
G TBX1 T-box transcription factor 1 ISO OMIM NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,143...51,296,725
JBrowse link
G THAP7 THAP domain containing 7 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:31690835 PMID:32581362 NCBI chr14:50,591,412...50,593,778
Ensembl chr14:50,591,440...50,593,580
JBrowse link
G TMEM191C transmembrane protein 191C ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,378,957...50,383,573 JBrowse link
G TOP3B DNA topoisomerase III beta ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,020,412...50,037,854 JBrowse link
G TRMT2A tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr14:51,489,889...51,494,204
Ensembl chr14:51,489,891...51,494,190
JBrowse link
G TSSK2 testis specific serine kinase 2 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:11239417 PMID:11242049 PMID:21921585 PMID:24826987 PMID:25205790 More... NCBI chr14:50,943,017...50,944,093
Ensembl chr14:50,943,017...50,944,093
JBrowse link
G TUBA8 tubulin alpha 8 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr 5:70,154,251...70,174,001
Ensembl chr 5:70,133,022...70,180,433
JBrowse link
G TXNRD2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr14:51,355,731...51,385,096
Ensembl chr14:51,354,178...51,385,353
JBrowse link
G UBE2L3 ubiquitin conjugating enzyme E2 L3 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,265,102...50,315,409 JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar Annotator: match by term: DiGeorge sequence
RGD
ClinVar
PMID:10024240 PMID:11239417 PMID:11242049 PMID:21921585 PMID:24826987 More... RGD:1580803 NCBI chr14:51,113,858...51,132,820
Ensembl chr14:51,113,713...51,133,072
JBrowse link
G USP18 ubiquitin specific peptidase 18 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr 5:70,183,321...70,227,990
Ensembl chr 5:70,183,308...70,227,990
JBrowse link
G VPREB1 V-set pre-B cell surrogate light chain 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:49,972,058...49,972,768
Ensembl chr14:49,970,340...49,972,741
JBrowse link
G YDJC YdjC chitooligosaccharide deacetylase homolog ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,260,813...50,262,553
Ensembl chr14:50,260,788...50,262,550
JBrowse link
G YPEL1 yippee like 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr14:50,190,641...50,208,732
Ensembl chr14:50,190,642...50,206,328
JBrowse link
G ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr14:51,503,074...51,517,577
Ensembl chr14:51,503,114...51,517,581
JBrowse link
G ZNF74 zinc finger protein 74 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: DiGeorge Syndrome
ClinVar PMID:11239417 PMID:11242049 PMID:24826987 PMID:25205790 PMID:25516202 More... NCBI chr14:50,840,500...50,869,945 JBrowse link
dilated cardiomyopathy 1S term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DES desmin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,103...121,435,424
JBrowse link
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:28492532 NCBI chr 6:114,982,259...115,021,332
Ensembl chr 6:114,916,763...115,021,305
JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:25741868 PMID:28492532 PMID:29253866 NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,615
JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar NCBI chr 1:78,071,990...78,224,564
Ensembl chr 1:78,071,446...78,224,365
JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:11897440 PMID:15219508 PMID:15539782 PMID:16061563 PMID:16537768 More... NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
G MYH7 myosin heavy chain 7 ISO OMIM NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,650,445...75,709,232
JBrowse link
G MYL2 myosin light chain 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:18533079 PMID:20173211 PMID:21310275 PMID:22958901 PMID:23299917 More... NCBI chr14:32,205,953...32,213,848
Ensembl chr14:32,196,883...32,213,760
JBrowse link
G NEXN nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:19881492 PMID:20970104 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr 6:135,315,000...135,382,911
Ensembl chr 6:135,318,754...135,382,699
JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:25741868 NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868
JBrowse link
G RBM20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:19712804 PMID:20590677 PMID:22004663 PMID:22466703 PMID:23886709 More... NCBI chr14:121,058,896...121,269,824 JBrowse link
G TNNC1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:18572189 PMID:19439414 PMID:20215591 PMID:20459070 PMID:21056975 More... NCBI chr13:34,591,571...34,594,320
Ensembl chr13:34,591,210...34,594,339
JBrowse link
G TNNT2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar NCBI chr10:23,749,528...23,759,696
Ensembl chr10:23,749,335...23,763,396
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:23861362 PMID:23975875 PMID:24033266 PMID:25589632 PMID:26467025 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
G VCL vinculin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:24033266 PMID:24062880 PMID:24503780 PMID:27532257 PMID:28492532 NCBI chr14:76,700,143...76,811,875
Ensembl chr14:76,700,168...76,811,875
JBrowse link
Dilated Cardiomyopathy with Left Ventricular Noncompaction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTC1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr 1:136,281,119...136,286,551
Ensembl chr 1:136,281,167...136,286,545
JBrowse link
G ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:29447731 PMID:31110529 PMID:31333075 More... NCBI chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,779
JBrowse link
G ALPK3 alpha kinase 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr 7:52,667,342...52,718,775 JBrowse link
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:31333075 PMID:31568572 NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,404,999...46,512,834
JBrowse link
G CTNNA3 catenin alpha 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction
ClinVar PMID:28492532 NCBI chr14:69,195,231...70,974,543
Ensembl chr14:69,200,215...70,938,204
JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction ClinVar PMID:24033266 PMID:25741868 PMID:27930701 PMID:28166811 PMID:28492532 NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,103...121,435,424
JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:19937601 PMID:28492532 NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,223...29,181,689
JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:31333075 PMID:31568572 NCBI chr  X:124,931,410...124,937,569
Ensembl chr  X:124,931,408...124,939,965
JBrowse link
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:31333075 PMID:31568572 NCBI chr 6:115,400,223...115,453,763
Ensembl chr 6:115,400,252...115,452,473
JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction
ClinVar PMID:20129281 PMID:20152563 PMID:21606396 PMID:21636032 PMID:21723241 More... NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,615
JBrowse link
G DTNA dystrobrevin alpha ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction
ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:118,333,069...118,753,516
Ensembl chr 6:118,333,733...118,753,513
JBrowse link
G EYA4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:31333075 PMID:31568572 NCBI chr 1:30,260,784...30,575,593
Ensembl chr 1:30,261,909...30,575,559
JBrowse link
G FHL2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr 3:49,389,900...49,448,459
Ensembl chr 3:49,363,555...49,467,527
JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:17646576 PMID:24569893 PMID:28492532 PMID:28855170 NCBI chr 7:60,010,396...60,052,258
Ensembl chr 7:60,010,482...60,053,823
JBrowse link
G JPH2 junctophilin 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr17:46,590,302...46,665,326 JBrowse link
G JUP junction plakoglobin ISO ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction ClinVar PMID:24033266 PMID:25741868 PMID:26220970 PMID:28166811 PMID:28492532 More... NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,211
JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr 1:78,071,990...78,224,564
Ensembl chr 1:78,071,446...78,224,365
JBrowse link
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction
ClinVar Annotator: match by term: Cardiomyopathy, dilated, with left ventricular noncompaction
ClinVar PMID:14662268 PMID:15668942 PMID:17097056 PMID:19377068 PMID:20474083 More... NCBI chr14:87,660,961...87,722,249
Ensembl chr14:87,644,242...87,722,251
JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction
ClinVar PMID:9562578 PMID:12707239 PMID:15115610 PMID:15166115 PMID:15519027 More... NCBI chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,539...15,270,104
JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction
ClinVar PMID:8533830 PMID:9536098 PMID:12379228 PMID:12707239 PMID:12749056 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,650,445...75,709,232
JBrowse link
G MYLK2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr17:35,499,828...35,513,096
Ensembl chr17:35,499,908...35,513,088
JBrowse link
G MYPN myopalladin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction
ClinVar PMID:28492532 NCBI chr14:71,283,271...71,388,591
Ensembl chr14:71,298,907...71,394,600
JBrowse link
G NEXN nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr 6:135,315,000...135,382,911
Ensembl chr 6:135,318,754...135,382,699
JBrowse link
G PRDM16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:31333075 PMID:31568572 NCBI chr 6:64,704,181...65,012,580
Ensembl chr 6:64,704,468...65,012,575
JBrowse link
G RBM20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:24033266 NCBI chr14:121,058,896...121,269,824 JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,245...54,406,355
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:12354768 PMID:12820704 PMID:15466642 PMID:15840476 PMID:16540748 More... NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,338,124...23,438,385
JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:19438153 PMID:19700766 PMID:20530761 PMID:24033266 PMID:24342716 More... NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,947,241
JBrowse link
G TCAP titin-cap ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr12:22,651,666...22,652,904
Ensembl chr12:22,651,666...22,653,453
JBrowse link
G TMEM43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr13:70,397,069...70,417,213
Ensembl chr13:70,393,219...70,417,168
JBrowse link
G TNNC1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction ClinVar NCBI chr13:34,591,571...34,594,320
Ensembl chr13:34,591,210...34,594,339
JBrowse link
G TNNT2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction
ClinVar PMID:7898523 PMID:9536098 PMID:12818575 PMID:12881443 PMID:14636924 More... NCBI chr10:23,749,528...23,759,696
Ensembl chr10:23,749,335...23,763,396
JBrowse link
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction
ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr 1:108,986,981...109,016,090
Ensembl chr 1:108,986,981...109,019,440
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction
ClinVar PMID:23975875 PMID:24033266 PMID:25589632 PMID:25741868 PMID:26467025 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
G VCL vinculin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction ClinVar PMID:11815424 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr14:76,700,143...76,811,875
Ensembl chr14:76,700,168...76,811,875
JBrowse link
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin ISO OMIM NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,615
JBrowse link
double outlet right ventricle term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CERS1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 NCBI chr 2:58,951,463...58,972,692 JBrowse link
G GDF1 growth differentiation factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Double outlet right ventricle
CTD
ClinVar
PMID:17924340 NCBI chr 2:58,972,918...58,976,294
Ensembl chr 2:58,951,726...58,974,672
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:25741868 NCBI chr 3:121,543,201...121,549,678
Ensembl chr 3:121,542,275...121,549,491
JBrowse link
G YES1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr 6:105,505,944...105,600,694
Ensembl chr 6:105,505,479...105,600,687
JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 More... NCBI chr 4:31,607,968...31,996,226
Ensembl chr 4:31,606,751...32,094,340
JBrowse link
Dursun Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6PC3 glucose-6-phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Dursun syndrome ClinVar PMID:19011569 PMID:19118303 PMID:20799326 PMID:25491320 PMID:25741868 More... NCBI chr12:19,121,540...19,126,291
Ensembl chr12:19,121,541...19,126,296
JBrowse link
Ebstein anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK8 cyclin dependent kinase 8 ISO ClinVar Annotator: match by term: Ebstein's malformation ClinVar PMID:25741868 NCBI chr11:4,054,442...4,161,501
Ensembl chr11:4,054,209...4,181,093
JBrowse link
G CEP85L centrosomal protein 85 like ISO ClinVar Annotator: match by term: Ebstein's malformation ClinVar NCBI chr 1:43,392,630...43,564,835
Ensembl chr 1:43,392,645...43,563,695
JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Ebstein's anomaly ClinVar PMID:21127202 PMID:23956225 PMID:24033266 PMID:29300372 NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,650,445...75,709,232
JBrowse link
G PLN phospholamban ISO ClinVar Annotator: match by term: Ebstein's malformation ClinVar NCBI chr 1:43,449,354...43,458,925 JBrowse link
Eisenmenger Complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NPPB natriuretic peptide B disease_progression ISO protein:increased expression:blood: RGD PMID:22397941 RGD:7247629 NCBI chr 6:71,930,374...71,931,843
Ensembl chr 6:71,919,495...71,932,254
JBrowse link
Endocardial Cushion Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXP1 forkhead box P1 ISO ClinVar Annotator: match by term: ENDOCARDIAL CUSHION DEFECT ClinVar PMID:25741868 NCBI chr13:52,346,844...52,974,358
Ensembl chr13:52,347,849...52,974,261
JBrowse link
Familial Atrial Fibrillation 17