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double outlet right ventricle - Ontology Report - Rat Genome Database

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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:double outlet right ventricle
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Accession:DOID:6406 term browser browse the term
Definition:Incomplete transposition of the great vessels in which both the AORTA and the PULMONARY ARTERY arise from the RIGHT VENTRICLE. The only outlet of the LEFT VENTRICLE is a large ventricular septal defect (VENTRICULAR SEPTAL DEFECTS or VSD). The various subtypes are classified by the location of the septal defect, such as subaortic, subpulmonary, or noncommitted.
Synonyms:exact_synonym: Double Outlet Right Ventricle, Noncommitted VSD;   Double Outlet Right Ventricle, Subaortic VSD;   Double Outlet Right Ventricle, Subpulmonary VSD;   Taussig Bing Anomaly;   Taussig-Bing syndrome or defect;   dextrotransposition of aorta;   double outlet right ventricle with subpulmonary ventricular septal defect
 primary_id: MESH:D004310
 xref: GARD:1908;   ICD10CM:Q20.1;   ICD9CM:745.11;   NCI:C98916;   ORDO:3426
For additional species annotation, visit the Alliance of Genome Resources.


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double outlet right ventricle term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chrNW_004624908:1,937,007...1,949,780
Ensembl chrNW_004624908:1,941,393...1,949,760
JBrowse link
G G CERS1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chr 6:17,331,021...17,351,542 JBrowse link
G P CERS1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chr 2:58,951,463...58,972,692
Ensembl chr 2:58,951,727...58,974,670
JBrowse link
G S Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chrNW_004936596:2,442,978...2,467,184
Ensembl chrNW_004936596:2,442,991...2,467,184
JBrowse link
G D CERS1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chr20:44,216,568...44,231,820 JBrowse link
G B CERS1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chr19:18,308,265...18,334,892
Ensembl chr19:19,317,173...19,342,487
JBrowse link
G C Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chrNW_004955524:2,788,672...2,798,068
Ensembl chrNW_004955524:2,788,653...2,796,370
JBrowse link
G R Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chr16:19,131,271...19,146,480
Ensembl chr16:19,104,466...19,112,519
JBrowse link
G M Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chr 8:70,768,425...70,784,238
Ensembl chr 8:70,768,425...70,784,242
JBrowse link
G H CERS1 ceramide synthase 1 IAGP ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chr19:18,868,545...18,896,982
Ensembl chr19:18,868,545...18,896,727
JBrowse link
G R Cfc1 cripto, FRL-1, cryptic family 1 ISS OMIM:217095 MouseDO NCBI chr 9:44,234,997...44,247,846
Ensembl chr 9:36,739,071...36,751,930
JBrowse link
G M Cfc1 cryptic, EGF-CFC family member 1 IAGP OMIM:217095 MouseDO NCBI chr 1:34,574,729...34,583,392
Ensembl chr 1:34,574,729...34,583,394
JBrowse link
G H CFC1 cryptic, EGF-CFC family member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11799476 NCBI chr 2:130,592,165...130,599,575
Ensembl chr 2:130,592,165...130,599,575
JBrowse link
G P CFC1B cryptic, EGF-CFC family member 1B ISO OMIM:217095 MouseDO NCBI chr15:56,943,183...56,951,929 JBrowse link
G B CFC1B cryptic, EGF-CFC family member 1B ISO OMIM:217095 MouseDO NCBI chr2B:29,354,004...29,362,161 JBrowse link
G H CFC1B cryptic, EGF-CFC family member 1B ISS OMIM:217095 MouseDO NCBI chr 2:130,521,222...130,528,603
Ensembl chr 2:130,521,197...130,528,604
JBrowse link
G N Dll4 delta like canonical Notch ligand 4 susceptibility ISO RGD PMID:34859965 RGD:155663381 NCBI chrNW_004624804:8,179,729...8,189,001
Ensembl chrNW_004624804:8,179,731...8,191,284
JBrowse link
G G DLL4 delta like canonical Notch ligand 4 susceptibility ISO RGD PMID:34859965 RGD:155663381 NCBI chr26:42,056,473...42,066,283
Ensembl chr26:42,056,331...42,065,828
JBrowse link
G P DLL4 delta like canonical Notch ligand 4 susceptibility ISO RGD PMID:34859965 RGD:155663381 NCBI chr 1:130,376,720...130,386,411
Ensembl chr 1:130,376,721...130,386,411
JBrowse link
G S Dll4 delta like canonical Notch ligand 4 susceptibility ISO RGD PMID:34859965 RGD:155663381 NCBI chrNW_004936471:4,320,235...4,330,251
Ensembl chrNW_004936471:4,320,933...4,330,253
JBrowse link
G D DLL4 delta like canonical Notch ligand 4 susceptibility ISO RGD PMID:34859965 RGD:155663381 NCBI chr30:8,059,463...8,068,742
Ensembl chr30:8,059,512...8,067,940
JBrowse link
G B DLL4 delta like canonical Notch ligand 4 susceptibility ISO RGD PMID:34859965 RGD:155663381 NCBI chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471
JBrowse link
G C Dll4 delta like canonical Notch ligand 4 susceptibility ISO RGD PMID:34859965 RGD:155663381 NCBI chrNW_004955416:7,807,049...7,816,346
Ensembl chrNW_004955416:7,807,049...7,817,420
JBrowse link
G R Dll4 delta like canonical Notch ligand 4 susceptibility ISO RGD PMID:34859965 RGD:155663381 NCBI chr 3:126,770,945...126,780,769
Ensembl chr 3:106,316,986...106,326,931
JBrowse link
G M Dll4 delta like canonical Notch ligand 4 susceptibility IMP RGD PMID:34859965 RGD:155663381 NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443
JBrowse link
G H DLL4 delta like canonical Notch ligand 4 susceptibility ISO RGD PMID:34859965 RGD:155663381 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073
JBrowse link
G N Ece1 endothelin converting enzyme 1 ISO OMIM:217095 MouseDO NCBI chrNW_004624764:6,222,301...6,318,423
Ensembl chrNW_004624764:6,221,867...6,318,477
JBrowse link
G G ECE1 endothelin converting enzyme 1 ISO OMIM:217095 MouseDO NCBI chr20:111,212,567...111,342,755
Ensembl chr20:111,212,594...111,342,821
JBrowse link
G P ECE1 endothelin converting enzyme 1 ISO OMIM:217095 MouseDO NCBI chr 6:79,408,322...79,465,827
Ensembl chr 6:79,408,326...79,466,152
JBrowse link
G S Ece1 endothelin converting enzyme 1 ISO OMIM:217095 MouseDO NCBI chrNW_004936474:7,034,134...7,083,005
Ensembl chrNW_004936474:7,034,134...7,083,005
JBrowse link
G D ECE1 endothelin converting enzyme 1 ISO OMIM:217095 MouseDO NCBI chr 2:77,732,645...77,793,950
Ensembl chr 2:77,678,686...77,792,114
JBrowse link
G B ECE1 endothelin converting enzyme 1 ISO OMIM:217095 MouseDO NCBI chr 1:20,166,019...20,290,803
Ensembl chr 1:21,206,199...21,278,909
JBrowse link
G C Ece1 endothelin converting enzyme 1 ISO OMIM:217095 MouseDO NCBI chrNW_004955452:1,653,783...1,704,619
Ensembl chrNW_004955452:1,651,316...1,751,489
JBrowse link
G R Ece1 endothelin converting enzyme 1 ISS OMIM:217095 MouseDO NCBI chr 5:155,361,031...155,462,723
Ensembl chr 5:150,077,644...150,179,371
JBrowse link
G M Ece1 endothelin converting enzyme 1 IAGP OMIM:217095 MouseDO NCBI chr 4:137,589,548...137,692,540
Ensembl chr 4:137,589,548...137,692,540
JBrowse link
G H ECE1 endothelin converting enzyme 1 ISS OMIM:217095 MouseDO NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572
JBrowse link
G N Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chrNW_004624908:1,935,525...1,937,012
Ensembl chrNW_004624908:1,935,539...1,936,953
JBrowse link
G G GDF1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 Ensembl chr 6:17,329,143...17,330,837 JBrowse link
G P GDF1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chr 2:58,972,918...58,976,294
Ensembl chr 2:58,951,726...58,974,672
JBrowse link
G S Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chrNW_004936596:2,467,428...2,469,213
Ensembl chrNW_004936596:2,467,431...2,471,476
JBrowse link
G D GDF1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chr20:44,233,304...44,234,072 JBrowse link
G B GDF1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chr19:18,306,513...18,334,328
Ensembl chr19:19,317,173...19,342,487
JBrowse link
G R Gdf1 growth differentiation factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Double outlet right ventricle
CTD
ClinVar
PMID:17924340 PMID:25741868 NCBI chr16:19,131,271...19,146,480
Ensembl chr16:19,097,314...19,112,519
JBrowse link
G M Gdf1 growth differentiation factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Double outlet right ventricle
CTD
ClinVar
PMID:17924340 PMID:25741868 NCBI chr 8:70,768,425...70,784,242
Ensembl chr 8:70,768,425...70,784,242
Ensembl chr 8:70,768,425...70,784,242
JBrowse link
G H GDF1 growth differentiation factor 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Double outlet right ventricle
CTD
ClinVar
PMID:17924340 PMID:25741868 NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158
JBrowse link
G N Isl1 ISL LIM homeobox 1 ISO DNA:mutation:cds:c.225C>G(human) RGD PMID:31484864 RGD:243048467 NCBI chrNW_004624759:7,996,177...8,006,281
Ensembl chrNW_004624759:7,994,242...8,006,311
JBrowse link
G G ISL1 ISL LIM homeobox 1 ISO DNA:mutation:cds:c.225C>G(human) RGD PMID:31484864 RGD:243048467 NCBI chr 4:47,665,861...47,678,631
Ensembl chr 4:47,666,536...47,677,552
JBrowse link
G P ISL1 ISL LIM homeobox 1 ISO DNA:mutation:cds:c.225C>G(human) RGD PMID:31484864 RGD:243048467 NCBI chr16:30,962,994...30,974,201
Ensembl chr16:30,963,000...30,973,907
JBrowse link
G S Isl1 ISL LIM homeobox 1 ISO DNA:mutation:cds:c.225C>G(human) RGD PMID:31484864 RGD:243048467 NCBI chrNW_004936480:15,805,259...15,817,854
Ensembl chrNW_004936480:15,805,247...15,817,854
JBrowse link
G D ISL1 ISL LIM homeobox 1 ISO DNA:mutation:cds:c.225C>G(human) RGD PMID:31484864 RGD:243048467 NCBI chr 4:63,638,009...63,648,492
Ensembl chr 4:63,637,443...63,648,183
JBrowse link
G B ISL1 ISL LIM homeobox 1 ISO DNA:mutation:cds:c.225C>G(human) RGD PMID:31484864 RGD:243048467 NCBI chr 5:62,635,095...62,650,141
Ensembl chr 5:64,252,715...64,264,674
JBrowse link
G C Isl1 ISL LIM homeobox 1 ISO DNA:mutation:cds:c.225C>G(human) RGD PMID:31484864 RGD:243048467 NCBI chrNW_004955446:15,824,956...15,835,000
Ensembl chrNW_004955446:15,824,035...15,835,046
JBrowse link
G R Isl1 ISL LIM homeobox 1 ISO DNA:mutation:cds:c.225C>G(human) RGD PMID:31484864 RGD:243048467 NCBI chr 2:49,813,618...49,823,442
Ensembl chr 2:48,080,522...48,095,584
JBrowse link
G M Isl1 ISL1 transcription factor, LIM/homeodomain ISO DNA:mutation:cds:c.225C>G(human) RGD PMID:31484864 RGD:243048467 NCBI chr13:116,434,806...116,446,224
Ensembl chr13:116,434,817...116,446,225
JBrowse link
G H ISL1 ISL LIM homeobox 1 IAGP DNA:mutation:cds:c.225C>G(human) RGD PMID:31484864 RGD:243048467 NCBI chr 5:51,383,448...51,394,730
Ensembl chr 5:51,383,448...51,394,730
JBrowse link
G G LOC103247122 cryptic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11799476
G H LOC126860469 BRD4-independent group 4 enhancer GRCh37_chr8:106814445-106815644 IAGP ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:21919901 NCBI chr 8:105,802,217...105,803,416 JBrowse link
G D LOC609557 cryptic protein ISO OMIM:217095 MouseDO NCBI chr19:20,318,937...20,384,369 JBrowse link
G N Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:25741868 NCBI chrNW_004624865:780,163...785,776 JBrowse link
G G MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:25741868 NCBI chr14:91,685,376...91,692,091 JBrowse link
G P 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 3:121,543,109...121,549,046
JBrowse link
G S Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:25741868 NCBI chrNW_004936493:14,618,176...14,624,201
Ensembl chrNW_004936493:14,618,060...14,624,315
JBrowse link
G D MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:25741868 NCBI chr17:11,720,857...11,724,308 JBrowse link
G B MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:25741868 NCBI chr2A:15,925,130...15,931,605 JBrowse link
G C Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:25741868 NCBI chrNW_004955487:9,219,528...9,224,818
Ensembl chrNW_004955487:9,219,528...9,224,818
JBrowse link
G R Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:25741868 NCBI chr 6:41,446,683...41,452,584
Ensembl chr 6:35,717,764...35,723,590
JBrowse link
G M Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:25741868 NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915
JBrowse link
G H MYCN MYCN proto-oncogene, bHLH transcription factor IAGP ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:25741868 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
G N Setd5 SET domain containing 5 ISO RGD PMID:34050709 RGD:155794379 NCBI chrNW_004624731:4,098,137...4,170,889
Ensembl chrNW_004624731:4,098,091...4,172,555
JBrowse link
G G SETD5 SET domain containing 5 ISO RGD PMID:34050709 RGD:155794379 NCBI chr22:45,391,871...45,475,183
Ensembl chr22:45,430,660...45,475,217
JBrowse link
G P SETD5 SET domain containing 5 ISO RGD PMID:34050709 RGD:155794379 NCBI chr13:65,759,973...65,851,747
Ensembl chr13:65,759,987...65,850,506
JBrowse link
G S Setd5 SET domain containing 5 ISO RGD PMID:34050709 RGD:155794379 NCBI chrNW_004936602:3,577,543...3,654,179
Ensembl chrNW_004936602:3,577,525...3,654,269
JBrowse link
G D SETD5 SET domain containing 5 ISO RGD PMID:34050709 RGD:155794379 NCBI chr20:8,681,714...8,766,013
Ensembl chr20:8,683,738...8,732,674
JBrowse link
G B SETD5 SET domain containing 5 ISO RGD PMID:34050709 RGD:155794379 NCBI chr 3:9,350,026...9,430,760
Ensembl chr 3:9,592,517...9,672,306
JBrowse link
G C Setd5 SET domain containing 5 ISO RGD PMID:34050709 RGD:155794379 NCBI chrNW_004955561:968,814...1,091,687
Ensembl chrNW_004955561:968,814...1,042,691
JBrowse link
G R Setd5 SET domain containing 5 ISO RGD PMID:34050709 RGD:155794379 NCBI chr 4:147,772,955...147,850,669
Ensembl chr 4:146,217,180...146,294,894
JBrowse link
G M Setd5 SET domain containing 5 IMP RGD PMID:34050709 RGD:155794379 NCBI chr 6:113,054,326...113,130,393
Ensembl chr 6:113,054,326...113,130,396
JBrowse link
G H SETD5 SET domain containing 5 ISO RGD PMID:34050709 RGD:155794379 NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240
JBrowse link
G N Yes1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chrNW_004624770:11,190,103...11,275,823
Ensembl chrNW_004624770:11,190,595...11,221,512
JBrowse link
G G YES1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr18:60,086,011...60,168,973
Ensembl chr18:60,088,525...60,120,114
JBrowse link
G P 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 D YES1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr 7:67,532,790...67,598,285
Ensembl chr 7:67,532,790...67,598,285
JBrowse link
G B YES1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr18:13,513,124...13,605,379
Ensembl chr18:15,848,765...17,245,246
JBrowse link
G C Yes1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chrNW_004955402:9,199,704...9,255,183
Ensembl chrNW_004955402:9,226,295...9,256,044
JBrowse link
G R Yes1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr 9:120,646,657...120,753,880
Ensembl chr 9:113,200,256...113,299,837
JBrowse link
G M Yes1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr 5:32,768,502...32,844,410
Ensembl chr 5:32,768,515...32,844,401
JBrowse link
G H YES1 YES proto-oncogene 1, Src family tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr18:721,588...812,753
Ensembl chr18:721,588...812,546
JBrowse link
G N 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 chrNW_004624763:21,388,060...21,708,969
Ensembl chrNW_004624763:21,388,244...21,707,953
JBrowse link
G 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 8:100,138,867...100,620,355 JBrowse link
G P 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 4:31,606,773...32,094,287
JBrowse link
G S 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 chrNW_004936470:38,432,894...38,857,656
Ensembl chrNW_004936470:38,432,897...38,857,662
JBrowse link
G D 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 chr13:6,435,368...6,796,903
Ensembl chr13:6,336,794...6,796,322
JBrowse link
G B 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 8:101,872,850...102,430,622
Ensembl chr 8:104,023,062...104,576,688
JBrowse link
G C 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 chrNW_004955417:28,931,428...29,268,778
Ensembl chrNW_004955417:28,920,210...29,269,271
JBrowse link
G R Zfpm2 zinc finger protein, multitype 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 7:73,563,732...74,001,041
Ensembl chr 7:71,678,880...72,116,205
JBrowse link
G M Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 More... NCBI chr15:40,518,438...40,967,988
Ensembl chr15:40,518,431...40,967,988
JBrowse link
G H ZFPM2 zinc finger protein, FOG family member 2 IAGP ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 More... NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539
JBrowse link
G H ZFPM2-AS1 ZFPM2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17568391 PMID:20807224 PMID:21919901 PMID:25741868 PMID:28492532 NCBI chr 8:105,780,410...106,060,503
Ensembl chr 8:105,546,089...106,060,524
JBrowse link
Conotruncal Cardiac Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M 9930012K11Rik RIKEN cDNA 9930012K11 gene ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,391,854...70,396,951
Ensembl chr14:70,391,854...70,396,951
JBrowse link
G N Add1 adducin 1 ISO DNA:SNP: :p.G460W (human) RGD PMID:16100725 RGD:5147996 NCBI chrNW_004624755:24,854,742...24,927,912
Ensembl chrNW_004624755:24,854,742...24,928,006
JBrowse link
G G ADD1 adducin 1 ISO DNA:SNP: :p.G460W (human) RGD PMID:16100725 RGD:5147996 NCBI chr27:45,811,611...45,901,277
Ensembl chr27:45,813,496...45,900,778
JBrowse link
G P 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 8:1,627,062...1,710,650
JBrowse link
G S Add1 adducin 1 ISO DNA:SNP: :p.G460W (human) RGD PMID:16100725 RGD:5147996 NCBI chrNW_004936477:20,695,109...20,766,053
Ensembl chrNW_004936477:20,691,951...20,766,152
JBrowse link
G D ADD1 adducin 1 ISO DNA:SNP: :p.G460W (human) RGD PMID:16100725 RGD:5147996 NCBI chr 3:61,356,643...61,443,851
Ensembl chr 3:61,358,162...61,474,830
JBrowse link
G B ADD1 adducin 1 ISO DNA:SNP: :p.G460W (human) RGD PMID:16100725 RGD:5147996 NCBI chr 4:2,986,301...3,072,590
Ensembl chr 4:2,920,781...2,975,012
JBrowse link
G C Add1 adducin 1 ISO DNA:SNP: :p.G460W (human) RGD PMID:16100725 RGD:5147996 NCBI chrNW_004955514:1,784,302...1,812,845
Ensembl chrNW_004955514:1,783,814...1,815,917
JBrowse link
G R Add1 adducin 1 ISO DNA:SNP: :p.G460W (human) RGD PMID:16100725 RGD:5147996 NCBI chr14:80,333,242...80,401,641
Ensembl chr14:76,108,654...76,167,182
JBrowse link
G M Add1 adducin 1 ISO DNA:SNP: :p.G460W (human) RGD PMID:16100725 RGD:5147996 NCBI chr 5:34,731,008...34,789,652
Ensembl chr 5:34,731,008...34,789,652
JBrowse link
G H ADD1 adducin 1 IAGP DNA:SNP: :p.G460W (human) RGD PMID:16100725 RGD:5147996 NCBI chr 4:2,843,844...2,930,062
Ensembl chr 4:2,843,844...2,930,076
JBrowse link
G N Bin3 bridging integrator 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,121,125...18,163,142
Ensembl chrNW_004624758:18,121,125...18,163,044
JBrowse link
G G BIN3 bridging integrator 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,700,664...20,748,775
Ensembl chr 8:20,701,390...20,725,210
JBrowse link
G P BIN3 bridging integrator 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,874,281...6,926,950
Ensembl chr14:6,874,300...6,889,133
JBrowse link
G D BIN3 bridging integrator 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,615,683...34,659,739
Ensembl chr25:34,615,249...34,659,755
JBrowse link
G B BIN3 bridging integrator 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,870,784...21,919,077
Ensembl chr 8:18,809,582...18,858,912
JBrowse link
G C Bin3 bridging integrator 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:46,042,885...46,085,029
Ensembl chrNW_004955403:46,042,885...46,085,029
JBrowse link
G R Bin3 bridging integrator 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,583,474...51,622,329
Ensembl chr15:45,173,732...45,212,604
JBrowse link
G M Bin3 bridging integrator 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,337,538...70,375,413
Ensembl chr14:70,337,554...70,375,655
JBrowse link
G H BIN3 bridging integrator 3 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,620,418...22,669,121
Ensembl chr 8:22,620,418...22,669,148
JBrowse link
G N Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:17,745,344...17,788,183
Ensembl chrNW_004624758:17,744,821...17,788,510
JBrowse link
G G BMP1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,234,242...20,281,768
Ensembl chr 8:20,234,184...20,283,467
JBrowse link
G P BMP1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,443,773...6,489,066
Ensembl chr14:6,443,912...6,489,063
JBrowse link
G S Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:5,990,822...6,023,864
Ensembl chrNW_004936555:5,990,836...6,023,878
JBrowse link
G D BMP1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,043,594...35,087,282
Ensembl chr25:35,020,751...35,087,545
JBrowse link
G B BMP1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,410,139...21,457,144
Ensembl chr 8:18,349,836...18,396,796
JBrowse link
G C Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,660,591...45,693,724
Ensembl chrNW_004955403:45,660,588...45,693,724
JBrowse link
G R Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,961,310...52,005,597
Ensembl chr15:45,551,603...45,595,776
JBrowse link
G M Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,711,998...70,758,280
Ensembl chr14:70,711,998...70,757,674
JBrowse link
G H BMP1 bone morphogenetic protein 1 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326
JBrowse link
G R C15h8orf58 similar to human chromosome 8 open reading frame 58 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:45,228,615...45,235,274
Ensembl chr15:45,228,615...45,233,254
JBrowse link
G D C25H8orf58 chromosome 25 C8orf58 homolog ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,674,918...34,679,389
Ensembl chr25:34,674,756...34,679,454
JBrowse link
G B C7H8orf58 chromosome 7 C8orf58 homolog ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,849,622...21,854,234
Ensembl chr 8:18,783,612...18,792,386
JBrowse link
G H C8orf58 chromosome 8 open reading frame 58 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,599,599...22,604,142
Ensembl chr 8:22,599,599...22,604,150
JBrowse link
G N Ccar2 cell cycle and apoptosis regulator 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,106,621...18,120,910
Ensembl chrNW_004624758:18,106,606...18,120,907
JBrowse link
G G CCAR2 cell cycle and apoptosis regulator 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,685,482...20,700,424
Ensembl chr 8:20,686,504...20,699,707
JBrowse link
G P CCAR2 cell cycle and apoptosis regulator 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,860,052...6,874,334
Ensembl chr14:6,859,664...6,874,327
JBrowse link
G S Ccar2 cell cycle and apoptosis regulator 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,341,455...6,356,677
Ensembl chrNW_004936555:6,341,390...6,356,668
JBrowse link
G D CCAR2 cell cycle and apoptosis regulator 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,660,026...34,674,129
Ensembl chr25:34,660,553...34,674,037
JBrowse link
G B CCAR2 cell cycle and apoptosis regulator 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,854,803...21,870,556
Ensembl chr 8:18,794,027...18,808,571
JBrowse link
G C Ccar2 cell cycle and apoptosis regulator 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:46,027,997...46,042,154
Ensembl chrNW_004955403:46,027,998...46,042,154
JBrowse link
G R Ccar2 cell cycle and apoptosis regulator 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,622,519...51,637,911
Ensembl chr15:45,212,803...45,227,636
JBrowse link
G M Ccar2 cell cycle activator and apoptosis regulator 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,375,617...70,391,272
Ensembl chr14:70,375,613...70,391,260
JBrowse link
G H CCAR2 cell cycle and apoptosis regulator 2 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,604,757...22,621,514
Ensembl chr 8:22,604,757...22,620,964
JBrowse link
G N Chmp7 charged multivesicular body protein 7 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,524,338...18,538,909
Ensembl chrNW_004624758:18,524,290...18,538,083
JBrowse link
G G CHMP7 charged multivesicular body protein 7 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,370,334...21,390,036
Ensembl chr 8:21,373,968...21,387,698
JBrowse link
G P CHMP7 charged multivesicular body protein 7 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:7,390,066...7,403,657
Ensembl chr14:7,390,061...7,403,654
JBrowse link
G S Chmp7 charged multivesicular body protein 7 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,730,284...6,757,816
Ensembl chrNW_004936555:6,745,738...6,756,467
JBrowse link
G D CHMP7 charged multivesicular body protein 7 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,242,671...34,257,268
Ensembl chr25:34,244,022...34,257,211
JBrowse link
G B CHMP7 charged multivesicular body protein 7 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,497,479...22,513,005
Ensembl chr 8:19,434,829...19,450,221
JBrowse link
G C Chmp7 charged multivesicular body protein 7 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:46,467,463...46,478,897
Ensembl chrNW_004955403:46,467,463...46,478,897
JBrowse link
G R Chmp7 charged multivesicular body protein 7 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,200,759...51,215,992
Ensembl chr15:44,790,996...44,806,216
JBrowse link
G M Chmp7 charged multivesicular body protein 7 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:69,954,428...69,970,019
Ensembl chr14:69,954,449...69,969,990
JBrowse link
G H CHMP7 charged multivesicular body protein 7 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,243,637...23,261,999
Ensembl chr 8:23,243,637...23,262,000
JBrowse link
G N CUNH8orf58 chromosome unknown C8orf58 homolog ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,099,118...18,106,056
Ensembl chrNW_004624758:18,101,772...18,105,212
JBrowse link
G G CUNH8orf58 chromosome unknown C8orf58 homolog ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,680,207...20,684,351
Ensembl chr 8:20,680,342...20,684,332
JBrowse link
G S CUNH8orf58 chromosome unknown C8orf58 homolog ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,336,092...6,340,862
Ensembl chrNW_004936555:6,336,522...6,340,032
JBrowse link
G C CUNH8orf58 chromosome unknown C8orf58 homolog ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:46,024,484...46,027,834
Ensembl chrNW_004955403:46,023,610...46,026,997
JBrowse link
G N Dmtn dematin actin binding protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:17,640,938...17,672,709
Ensembl chrNW_004624758:17,655,803...17,671,666
JBrowse link
G G DMTN dematin actin binding protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,120,054...20,154,368
Ensembl chr 8:20,125,703...20,152,985
JBrowse link
G P DMTN dematin actin binding protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,315,643...6,346,722
Ensembl chr14:6,321,870...6,346,865
JBrowse link
G S Dmtn dematin actin binding protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:5,884,746...5,911,171
Ensembl chrNW_004936555:5,896,471...5,910,098
JBrowse link
G D DMTN dematin actin binding protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,163,867...35,188,761
Ensembl chr25:35,165,876...35,176,754
JBrowse link
G B DMTN dematin actin binding protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,293,759...21,327,600
Ensembl chr 8:18,251,886...18,266,229
JBrowse link
G C Dmtn dematin actin binding protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,566,180...45,579,062
Ensembl chrNW_004955403:45,566,180...45,578,079
JBrowse link
G R Dmtn dematin actin binding protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:52,087,667...52,111,956
Ensembl chr15:45,677,977...45,705,601
JBrowse link
G M Dmtn dematin actin binding protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,839,624...70,873,488
Ensembl chr14:70,838,703...70,873,418
JBrowse link
G H DMTN dematin actin binding protein IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,048,931...22,082,525
Ensembl chr 8:22,048,995...22,082,527
JBrowse link
G N Egr3 early growth response 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,180,787...18,186,148
Ensembl chrNW_004624758:18,180,123...18,186,196
JBrowse link
G G EGR3 early growth response 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,767,219...20,772,838
Ensembl chr 8:20,767,224...20,772,682
JBrowse link
G P EGR3 early growth response 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,943,184...6,948,507
Ensembl chr14:6,944,935...6,948,580
JBrowse link
G S Egr3 early growth response 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,347,446...6,393,784
Ensembl chrNW_004936555:6,356,691...6,393,825
Ensembl chrNW_004936555:6,356,691...6,393,825
JBrowse link
G D EGR3 early growth response 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,591,691...34,597,144
Ensembl chr25:34,591,863...34,594,346
JBrowse link
G B EGR3 early growth response 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,937,516...21,943,646
Ensembl chr 8:18,877,396...18,882,874
JBrowse link
G C Egr3 early growth response 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:46,105,447...46,108,149
Ensembl chrNW_004955403:46,105,447...46,108,149
JBrowse link
G R Egr3 early growth response 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,560,482...51,565,778
Ensembl chr15:45,150,567...45,154,627
JBrowse link
G M Egr3 early growth response 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,314,766...70,320,062
Ensembl chr14:70,314,652...70,320,063
JBrowse link
G H EGR3 early growth response 3 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,687,659...22,693,480
Ensembl chr 8:22,687,659...22,693,480
JBrowse link
G N Entpd4 ectonucleoside triphosphate diphosphohydrolase 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,670,609...18,697,594
Ensembl chrNW_004624758:18,670,041...18,697,619
JBrowse link
G G ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,528,520...21,574,330
Ensembl chr 8:21,543,888...21,574,311
JBrowse link
G P ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:7,565,610...7,604,464
Ensembl chr14:7,565,604...7,594,057
JBrowse link
G S Entpd4 ectonucleoside triphosphate diphosphohydrolase 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,896,661...6,920,333
Ensembl chrNW_004936555:6,893,393...6,919,584
JBrowse link
G D ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,032,104...34,067,772
Ensembl chr25:34,032,055...34,063,281
JBrowse link
G B ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,678,746...22,707,408
Ensembl chr 8:19,571,337...19,635,150
JBrowse link
G C Entpd4 ectonucleoside triphosphate diphosphohydrolase 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:46,609,211...46,637,622
Ensembl chrNW_004955403:46,609,211...46,637,643
JBrowse link
G R Entpd4 ectonucleoside triphosphate diphosphohydrolase 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,040,665...51,068,450
Ensembl chr15:44,630,873...44,658,706
JBrowse link
G M Entpd4 ectonucleoside triphosphate diphosphohydrolase 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:69,574,600...69,604,191
Ensembl chr14:69,574,623...69,604,719
JBrowse link
G H ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,429,162...23,457,647
Ensembl chr 8:23,385,783...23,457,695
JBrowse link
G N Fgf17 fibroblast growth factor 17 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:17,634,606...17,640,590
Ensembl chrNW_004624758:17,634,994...17,640,560
JBrowse link
G G FGF17 fibroblast growth factor 17 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,111,858...20,119,785
Ensembl chr 8:20,116,561...20,119,746
JBrowse link
G P FGF17 fibroblast growth factor 17 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,310,840...6,315,465
Ensembl chr14:6,309,735...6,315,882
JBrowse link
G S Fgf17 fibroblast growth factor 17 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:5,869,156...5,877,674
Ensembl chrNW_004936555:5,872,586...5,878,099
JBrowse link
G D FGF17 fibroblast growth factor 17 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,194,400...35,204,787
Ensembl chr25:35,194,394...35,199,792
JBrowse link
G B FGF17 fibroblast growth factor 17 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,284,451...21,293,633
Ensembl chr 8:18,224,461...18,233,537
JBrowse link
G C Fgf17 fibroblast growth factor 17 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,544,114...45,548,659
Ensembl chrNW_004955403:45,544,114...45,548,659
JBrowse link
G R Fgf17 fibroblast growth factor 17 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:52,118,141...52,132,083
Ensembl chr15:45,711,998...45,717,063
JBrowse link
G M Fgf17 fibroblast growth factor 17 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,873,643...70,880,064
Ensembl chr14:70,873,643...70,879,708
JBrowse link
G H FGF17 fibroblast growth factor 17 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809
JBrowse link
G N Fhip2b FHF complex subunit HOOK interacting protein 2B ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:17,677,862...17,690,799
Ensembl chrNW_004624758:17,677,843...17,689,446
JBrowse link
G G FHIP2B FHF complex subunit HOOK interacting protein 2B ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,159,036...20,173,973
Ensembl chr 8:20,167,153...20,172,511
JBrowse link
G P FHIP2B FHF complex subunit HOOK interacting protein 2B ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,360,333...6,376,941
Ensembl chr14:6,360,412...6,376,922
JBrowse link
G S Fhip2b FHF complex subunit HOOK interacting protein 2B ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:5,918,354...5,928,036
Ensembl chrNW_004936555:5,918,339...5,928,539
JBrowse link
G D FHIP2B FHF complex subunit HOOK interacting protein 2B ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,144,949...35,157,228
Ensembl chr25:35,146,390...35,162,394
JBrowse link
G B FHIP2B FHF complex subunit HOOK interacting protein 2B ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,333,581...21,349,344
Ensembl chr 8:18,279,023...18,287,880
JBrowse link
G C Fhip2b FHF complex subunit HOOK interacting protein 2B ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,587,970...45,597,700
Ensembl chrNW_004955403:45,587,970...45,597,700
JBrowse link
G R Fhip2b FHF complex subunit HOOK interacting protein 2B ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:45,656,641...45,674,603
Ensembl chr15:45,656,647...45,674,105
JBrowse link
G M Fhip2b FHF complex subunit HOOK interacting protein 2B ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,820,733...70,837,309
Ensembl chr14:70,820,736...70,837,275
JBrowse link
G H FHIP2B FHF complex subunit HOOK interacting protein 2B IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,089,150...22,104,911
Ensembl chr 8:22,089,150...22,104,911
JBrowse link
G N Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Conotruncal defect ClinVar PMID:25741868 PMID:32003456 NCBI chrNW_004624735:12,384,728...12,388,234
Ensembl chrNW_004624735:12,386,281...12,387,774
JBrowse link
G G FOXH1 forkhead box H1 ISO ClinVar Annotator: match by term: Conotruncal defect ClinVar PMID:25741868 PMID:32003456 NCBI chr 8:138,685,137...138,688,451
Ensembl chr 8:138,685,626...138,687,144
JBrowse link
G P 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 4:322,838...324,481
JBrowse link
G S Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Conotruncal defect ClinVar PMID:25741868 PMID:32003456 NCBI chrNW_004936470:7,789,486...7,791,067
Ensembl chrNW_004936470:7,789,541...7,791,039
JBrowse link
G D FOXH1 forkhead box H1 ISO ClinVar Annotator: match by term: Conotruncal defect ClinVar PMID:25741868 PMID:32003456 NCBI chr13:37,883,554...37,887,324
Ensembl chr13:37,882,687...37,885,319
JBrowse link
G B FOXH1 forkhead box H1 ISO ClinVar Annotator: match by term: Conotruncal defect ClinVar PMID:25741868 PMID:32003456 NCBI chr 8:141,240,691...141,244,381
Ensembl chr 8:144,225,933...144,232,736
JBrowse link
G C Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Conotruncal defect ClinVar PMID:25741868 PMID:32003456 NCBI chrNW_004955454:3,094,015...3,096,060
Ensembl chrNW_004955454:3,094,033...3,095,512
JBrowse link
G R Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Conotruncal defect
DNA:misense mutations:cds:multiple
ClinVar
RGD
PMID:25741868 PMID:32003456 PMID:32003456 RGD:155791676 NCBI chr 7:110,268,608...110,272,105
Ensembl chr 7:108,387,969...108,390,049
JBrowse link
G M Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Conotruncal defect
DNA:misense mutations:cds:multiple
ClinVar
RGD
PMID:25741868 PMID:32003456 PMID:32003456 RGD:155791676 NCBI chr15:76,552,029...76,554,286
Ensembl chr15:76,552,425...76,554,148
JBrowse link
G H FOXH1 forkhead box H1 IAGP DNA:misense mutations:cds:multiple
ClinVar Annotator: match by term: Conotruncal defect
ClinVar
RGD
PMID:25741868 PMID:32003456 PMID:32003456 RGD:155791676 NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849
JBrowse link
G N Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:19666519 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29101065 More... NCBI chrNW_004624770:9,772,818...9,799,837
Ensembl chrNW_004624770:9,772,818...9,798,259
JBrowse link
G G GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:19666519 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29101065 More... NCBI chr18:58,312,328...58,345,472
Ensembl chr18:58,311,482...58,343,746
JBrowse link
G P GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:19666519 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29101065 More... NCBI chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,849...107,314,626
JBrowse link
G S Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:19666519 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29101065 More... NCBI chrNW_004936550:1,814,336...1,844,399
Ensembl chrNW_004936550:1,814,336...1,844,399
JBrowse link
G D GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:19666519 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29101065 More... NCBI chr 7:65,932,114...65,962,574 JBrowse link
G B GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:19666519 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29101065 More... NCBI chr18:15,411,764...15,444,402 JBrowse link
G R Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:19666519 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29101065 More... NCBI chr18:2,460,909...2,492,322
Ensembl chr18:2,188,121...2,219,532
JBrowse link
G M Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:19666519 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29101065 More... NCBI chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635
JBrowse link
G H GATA6 GATA binding protein 6 IAGP ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:19666519 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29101065 More... NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
JBrowse link
G N Hr HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:17,699,357...17,719,188
Ensembl chrNW_004624758:17,699,400...17,715,482
JBrowse link
G G HR HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,183,797...20,207,510
Ensembl chr 8:20,183,677...20,198,700
JBrowse link
G P HR HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,386,900...6,404,968
Ensembl chr14:6,386,903...6,407,031
JBrowse link
G S Hr HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:5,936,431...5,954,852
Ensembl chrNW_004936555:5,936,220...5,954,974
JBrowse link
G D HR HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,120,566...35,136,560
Ensembl chr25:35,119,784...35,135,545
JBrowse link
G B HR HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,359,348...21,378,315
Ensembl chr 8:18,298,709...18,316,151
JBrowse link
G C Hr HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,605,870...45,624,386
Ensembl chrNW_004955403:45,605,510...45,624,402
JBrowse link
G R Hr HR, lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:52,036,540...52,056,019
Ensembl chr15:45,626,835...45,646,313
JBrowse link
G M Hr lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,789,644...70,810,988
Ensembl chr14:70,789,652...70,810,988
JBrowse link
G H HR HR lysine demethylase and nuclear receptor corepressor IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,114,419...22,131,052
Ensembl chr 8:22,114,419...22,133,384
JBrowse link
G N Lgi3 leucine rich repeat LGI family member 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:17,729,290...17,737,677
Ensembl chrNW_004624758:17,726,018...17,737,740
JBrowse link
G G LGI3 leucine rich repeat LGI family member 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,216,373...20,226,744
Ensembl chr 8:20,216,372...20,225,599
JBrowse link
G P LGI3 leucine rich repeat LGI family member 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,419,100...6,429,266
Ensembl chr14:6,419,592...6,428,563
JBrowse link
G S Lgi3 leucine rich repeat LGI family member 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:5,966,617...5,973,898
Ensembl chrNW_004936555:5,966,577...5,973,954
JBrowse link
G D LGI3 leucine rich repeat LGI family member 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,097,464...35,105,930
Ensembl chr25:35,097,566...35,105,940
JBrowse link
G B LGI3 leucine rich repeat LGI family member 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,391,765...21,401,770
Ensembl chr 8:18,330,815...18,340,403
JBrowse link
G C Lgi3 leucine rich repeat LGI family member 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,634,237...45,644,172
Ensembl chrNW_004955403:45,634,237...45,644,172
JBrowse link
G R Lgi3 leucine-rich repeat LGI family, member 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:52,015,317...52,022,445
Ensembl chr15:45,605,611...45,612,739
JBrowse link
G M Lgi3 leucine-rich repeat LGI family, member 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,765,982...70,775,764
Ensembl chr14:70,768,125...70,775,764
JBrowse link
G H LGI3 leucine rich repeat LGI family member 3 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,146,830...22,156,806
Ensembl chr 8:22,146,830...22,157,084
JBrowse link
G D LOC100688321 tumor necrosis factor receptor superfamily member 26-like ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr18:47,008,850...47,029,029 JBrowse link
G P LOC100737977 tumor necrosis factor receptor superfamily member 10B-like ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:7,344,788...7,371,086 JBrowse link
G G LOC103215471 tumor necrosis factor receptor superfamily member 10D ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,242,378...21,300,551 JBrowse link
G G LOC103215717 uncharacterized LOC103215717 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,172,978...21,216,474 JBrowse link
G N Loxl2 lysyl oxidase like 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,567,367...18,644,528
Ensembl chrNW_004624758:18,568,607...18,621,785
JBrowse link
G G LOXL2 lysyl oxidase like 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,416,821...21,516,923
Ensembl chr 8:21,416,787...21,516,854
JBrowse link
G P LOXL2 lysyl oxidase like 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:7,435,861...7,540,699
Ensembl chr14:7,435,867...7,540,704
JBrowse link
G S Loxl2 lysyl oxidase like 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,781,563...6,865,662
Ensembl chrNW_004936555:6,781,321...6,865,768
JBrowse link
G D LOXL2 lysyl oxidase like 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,095,858...34,186,775
Ensembl chr25:34,126,335...34,185,969
JBrowse link
G B LOXL2 lysyl oxidase like 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,547,303...22,653,676
Ensembl chr 8:19,483,335...19,589,522
JBrowse link
G C Loxl2 lysyl oxidase like 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:46,503,226...46,583,807
Ensembl chrNW_004955403:46,504,440...46,584,016
JBrowse link
G R Loxl2 lysyl oxidase-like 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,091,547...51,182,843
Ensembl chr15:44,683,880...44,773,067
JBrowse link
G M Loxl2 lysyl oxidase-like 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:69,846,085...69,933,283
Ensembl chr14:69,846,517...69,933,283
JBrowse link
G H LOXL2 lysyl oxidase like 2 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,296,897...23,404,120
Ensembl chr 8:23,296,897...23,425,328
JBrowse link
G M Mir320 microRNA 320 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,680,950...70,681,031
Ensembl chr14:70,680,950...70,681,031
JBrowse link
G R Mir320a microRNA 320a ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,926,088...51,926,169
Ensembl chr15:45,516,392...45,516,473
JBrowse link
G H MIR320A microRNA 320a IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,244,966...22,245,037
Ensembl chr 8:22,244,962...22,245,043
JBrowse link
G N Mthfr methylenetetrahydrofolate reductase no_association ISO DNA:SNPs:cds:c.677C>T,c.1298A>C (human) RGD PMID:12705333 RGD:11565174 NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168
JBrowse link
G G MTHFR methylenetetrahydrofolate reductase no_association ISO DNA:SNPs:cds:c.677C>T,c.1298A>C (human) RGD PMID:12705333 RGD:11565174 NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950
JBrowse link
G P 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 6:71,863,637...71,881,820
JBrowse link
G S Mthfr methylenetetrahydrofolate reductase no_association ISO DNA:SNPs:cds:c.677C>T,c.1298A>C (human) RGD PMID:12705333 RGD:11565174 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193
JBrowse link
G D MTHFR methylenetetrahydrofolate reductase no_association ISO DNA:SNPs:cds:c.677C>T,c.1298A>C (human) RGD PMID:12705333 RGD:11565174 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G B MTHFR methylenetetrahydrofolate reductase no_association ISO DNA:SNPs:cds:c.677C>T,c.1298A>C (human) RGD PMID:12705333 RGD:11565174 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
JBrowse link
G C Mthfr methylenetetrahydrofolate reductase no_association ISO DNA:SNPs:cds:c.677C>T,c.1298A>C (human) RGD PMID:12705333 RGD:11565174 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
JBrowse link
G R Mthfr methylenetetrahydrofolate reductase no_association ISO DNA:SNPs:cds:c.677C>T,c.1298A>C (human) RGD PMID:12705333 RGD:11565174 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G M Mthfr methylenetetrahydrofolate reductase no_association ISO DNA:SNPs:cds:c.677C>T,c.1298A>C (human) RGD PMID:12705333 RGD:11565174 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
JBrowse link
G H MTHFR methylenetetrahydrofolate reductase no_association IAGP DNA:SNPs:cds:c.677C>T,c.1298A>C (human) RGD PMID:12705333 RGD:11565174 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G N Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis
OMIM
ClinVar
PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 More... NCBI chrNW_004624733:16,881,189...16,884,245
Ensembl chrNW_004624733:16,881,191...16,884,210
JBrowse link
G G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis
OMIM
ClinVar
PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 More... NCBI chr23:75,391,833...75,399,003
Ensembl chr23:75,391,847...75,395,205
JBrowse link
G P NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis
OMIM
ClinVar
PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 More... NCBI chr16:51,086,014...51,089,165
Ensembl chr16:51,086,011...51,089,162
JBrowse link
G S Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis
OMIM
ClinVar
PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 More... NCBI chrNW_004936609:2,406,004...2,408,980
Ensembl chrNW_004936609:2,406,004...2,409,046
JBrowse link
G D NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis
OMIM
ClinVar
PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 More... NCBI chr 4:39,240,755...39,254,585
Ensembl chr 4:39,244,286...39,247,592
JBrowse link
G B NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis
OMIM
ClinVar
PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 More... NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514
JBrowse link
G C Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis
OMIM
ClinVar
PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 More... NCBI chrNW_004955408:25,833,649...25,836,673
Ensembl chrNW_004955408:25,832,683...25,836,840
JBrowse link
G R Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis
OMIM
ClinVar
PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 More... NCBI chr10:16,844,888...16,851,458
Ensembl chr10:16,344,159...16,346,934
JBrowse link
G M Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis
OMIM
ClinVar
PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 More... NCBI chr17:27,057,638...27,063,962
Ensembl chr17:27,057,638...27,063,983
JBrowse link
G H NKX2-5 NK2 homeobox 5 IAGP ClinVar Annotator: match by term: Conotruncal cardiac defects
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar Annotator: match by term: Truncus arteriosus communis
OMIM
ClinVar
PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 More... NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
JBrowse link
G N Nkx2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532 NCBI chrNW_004624758:18,908,988...18,914,794
Ensembl chrNW_004624758:18,911,010...18,914,001
JBrowse link
G G NKX2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532 NCBI chr 8:21,820,940...21,827,124
Ensembl chr 8:21,821,711...21,825,801
JBrowse link
G P NKX2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532 NCBI chr14:7,811,200...7,815,553
Ensembl chr14:7,811,200...7,815,645
JBrowse link
G S Nkx2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532 NCBI chrNW_004936555:7,111,678...7,114,944
Ensembl chrNW_004936555:7,111,678...7,114,944
JBrowse link
G D NKX2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532 NCBI chr25:33,781,294...33,787,460
Ensembl chr25:33,781,249...33,785,761
JBrowse link
G B NKX2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532 NCBI chr 8:22,949,843...22,955,391
Ensembl chr 8:19,884,480...19,888,643
JBrowse link
G C Nkx2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532 NCBI chrNW_004955403:46,831,758...46,836,358
Ensembl chrNW_004955403:46,831,696...46,836,333
JBrowse link
G R Nkx2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532 NCBI chr15:50,852,965...50,857,060
Ensembl chr15:44,443,101...44,447,247
JBrowse link
G M Nkx2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532 NCBI chr14:69,409,251...69,412,989
Ensembl chr14:69,409,251...69,412,967
JBrowse link
G H NKX2-6 NK2 homeobox 6 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM
ClinVar
PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532 NCBI chr 8:23,701,740...23,706,756
Ensembl chr 8:23,701,740...23,706,756
JBrowse link
G N Nkx3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,874,399...18,876,982
Ensembl chrNW_004624758:18,875,475...18,876,971
JBrowse link
G G NKX3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,792,069...21,797,258
Ensembl chr 8:21,791,422...21,796,319
JBrowse link
G P NKX3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:7,783,296...7,787,036
Ensembl chr14:7,783,323...7,787,033
JBrowse link
G S Nkx3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:7,087,677...7,091,334
Ensembl chrNW_004936555:7,088,577...7,091,334
JBrowse link
G D NKX3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:33,815,343...33,817,465
Ensembl chr25:33,815,095...33,817,474
JBrowse link
G B NKX3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,926,145...22,930,396
Ensembl chr 8:19,863,275...19,864,942
JBrowse link
G C Nkx3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:46,807,846...46,809,924
Ensembl chrNW_004955403:46,806,178...46,836,310
JBrowse link
G R Nkx3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:50,883,661...50,886,253
Ensembl chr15:44,473,851...44,476,441
JBrowse link
G M Nkx3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:69,428,141...69,432,107
Ensembl chr14:69,428,087...69,432,111
JBrowse link
G H NKX3-1 NK3 homeobox 1 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,678,693...23,682,938
Ensembl chr 8:23,678,697...23,682,938
JBrowse link
G N Nudt18 nudix hydrolase 18 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:17,691,790...17,695,027
Ensembl chrNW_004624758:17,691,803...17,694,945
JBrowse link
G G NUDT18 nudix hydrolase 18 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,176,500...20,184,637 JBrowse link
G P NUDT18 nudix hydrolase 18 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,378,987...6,381,712
Ensembl chr14:6,377,815...6,381,596
JBrowse link
G S Nudt18 nudix hydrolase 18 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:5,929,262...5,932,334
Ensembl chrNW_004936555:5,928,601...5,932,400
JBrowse link
G D NUDT18 nudix hydrolase 18 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,139,580...35,144,066
Ensembl chr25:35,140,969...35,143,063
JBrowse link
G B NUDT18 nudix hydrolase 18 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,351,840...21,356,915
Ensembl chr 8:18,293,555...18,297,078
JBrowse link
G C Nudt18 nudix hydrolase 18 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,598,813...45,601,940 JBrowse link
G R Nudt18 nudix hydrolase 18 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:45,650,597...45,653,985
Ensembl chr15:45,650,664...45,653,963
JBrowse link
G M Nudt18 nudix hydrolase 18 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,815,264...70,820,128
Ensembl chr14:70,815,077...70,820,128
JBrowse link
G H NUDT18 nudix hydrolase 18 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,106,878...22,110,482
Ensembl chr 8:22,105,748...22,109,419
JBrowse link
G N Pdlim2 PDZ and LIM domain 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,085,818...18,098,621 JBrowse link
G G PDLIM2 PDZ and LIM domain 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,658,642...20,674,915
Ensembl chr 8:20,659,361...20,674,900
JBrowse link
G P PDLIM2 PDZ and LIM domain 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,834,116...6,848,536
Ensembl chr14:6,834,779...6,848,526
JBrowse link
G S Pdlim2 PDZ and LIM domain 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,318,813...6,331,556
Ensembl chrNW_004936555:6,318,762...6,331,575
JBrowse link
G D PDLIM2 PDZ and LIM domain 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,684,954...34,699,144
Ensembl chr25:34,684,964...34,699,166
JBrowse link
G B PDLIM2 PDZ and LIM domain 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,828,923...21,844,483
Ensembl chr 8:18,767,142...18,783,658
JBrowse link
G C Pdlim2 PDZ and LIM domain 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:46,006,255...46,019,865 JBrowse link
G R Pdlim2 PDZ and LIM domain 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,647,195...51,659,904
Ensembl chr15:45,237,477...45,249,242
JBrowse link
G M Pdlim2 PDZ and LIM domain 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,401,667...70,415,140
Ensembl chr14:70,401,667...70,415,130
JBrowse link
G H PDLIM2 PDZ and LIM domain 2 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,578,741...22,598,026
Ensembl chr 8:22,578,279...22,598,025
JBrowse link
G N Pebp4 phosphatidylethanolamine binding protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,203,239...18,394,891 JBrowse link
G G PEBP4 phosphatidylethanolamine binding protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,792,718...21,066,746
Ensembl chr 8:20,792,707...21,004,134
JBrowse link
G P PEBP4 phosphatidylethanolamine binding protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,966,861...7,173,255
Ensembl chr14:6,966,862...7,173,347
JBrowse link
G S Pebp4 phosphatidylethanolamine binding protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,433,243...6,648,014
Ensembl chrNW_004936555:6,433,237...6,620,072
JBrowse link
G D PEBP4 phosphatidylethanolamine binding protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,329,160...34,574,086
Ensembl chr25:34,317,421...34,574,066
JBrowse link
G B PEBP4 phosphatidylethanolamine binding protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,963,297...22,250,024
Ensembl chr 8:18,902,734...19,117,025
JBrowse link
G C Pebp4 phosphatidylethanolamine binding protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:46,126,263...46,317,830
Ensembl chrNW_004955403:46,125,150...46,333,200
JBrowse link
G R Pebp4 phosphatidylethanolamine binding protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:44,920,946...45,134,188
Ensembl chr15:44,921,886...45,134,191
JBrowse link
G M Pebp4 phosphatidylethanolamine binding protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,077,856...70,297,367
Ensembl chr14:70,077,869...70,297,367
JBrowse link
G H PEBP4 phosphatidylethanolamine binding protein 4 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,713,251...22,941,077
Ensembl chr 8:22,713,251...23,000,000
JBrowse link
G N Phyhip phytanoyl-CoA 2-hydroxylase interacting protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:17,793,805...17,804,637
Ensembl chrNW_004624758:17,792,745...17,804,964
JBrowse link
G G PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,289,215...20,301,495
Ensembl chr 8:20,289,512...20,297,577
JBrowse link
G P PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,494,395...6,506,747
Ensembl chr14:6,494,402...6,506,546
JBrowse link
G S Phyhip phytanoyl-CoA 2-hydroxylase interacting protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,029,393...6,040,622
Ensembl chrNW_004936555:6,029,347...6,040,758
JBrowse link
G D PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,025,823...35,038,513
Ensembl chr25:35,026,692...35,037,163
JBrowse link
G B PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,464,544...21,477,197
Ensembl chr 8:18,404,176...18,417,035
JBrowse link
G C Phyhip phytanoyl-CoA 2-hydroxylase interacting protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,698,936...45,710,921
Ensembl chrNW_004955403:45,695,638...45,710,187
JBrowse link
G R Phyhip phytanoyl-CoA 2-hydroxylase interacting protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,943,670...51,954,921
Ensembl chr15:45,533,974...45,545,221
JBrowse link
G M Phyhip phytanoyl-CoA hydroxylase interacting protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,694,957...70,706,266
Ensembl chr14:70,694,916...70,706,272
JBrowse link
G H PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,219,703...22,232,099
Ensembl chr 8:22,219,703...22,232,101
JBrowse link
G N Piwil2 piwi like RNA-mediated gene silencing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:17,834,268...17,911,886
Ensembl chrNW_004624758:17,834,191...17,902,575
JBrowse link
G G PIWIL2 piwi like RNA-mediated gene silencing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,347,998...20,436,016
Ensembl chr 8:20,352,771...20,433,947
JBrowse link
G P PIWIL2 piwi like RNA-mediated gene silencing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,560,402...6,632,524
Ensembl chr14:6,560,565...6,632,523
JBrowse link
G S Piwil2 piwi like RNA-mediated gene silencing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,078,681...6,133,184
Ensembl chrNW_004936555:6,078,681...6,133,020
JBrowse link
G D PIWIL2 piwi like RNA-mediated gene silencing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,911,120...34,987,287
Ensembl chr25:34,912,358...34,987,339
JBrowse link
G B PIWIL2 piwi like RNA-mediated gene silencing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,520,166...21,608,374
Ensembl chr 8:18,463,173...18,544,186
JBrowse link
G C Piwil2 piwi like RNA-mediated gene silencing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,737,674...45,819,478
Ensembl chrNW_004955403:45,737,674...45,819,873
JBrowse link
G R Piwil2 piwi-like RNA-mediated gene silencing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,841,104...51,907,729
Ensembl chr15:45,431,703...45,497,702
JBrowse link
G M Piwil2 piwi-like RNA-mediated gene silencing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,609,926...70,674,338
Ensembl chr14:70,609,926...70,666,832
JBrowse link
G H PIWIL2 piwi like RNA-mediated gene silencing 2 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,275,316...22,357,568
Ensembl chr 8:22,275,316...22,357,568
JBrowse link
G N Polr3d RNA polymerase III subunit D ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:17,817,716...17,823,442
Ensembl chrNW_004624758:17,817,690...17,824,427
JBrowse link
G G POLR3D RNA polymerase III subunit D ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,314,020...20,320,118
Ensembl chr 8:20,314,081...20,319,455
JBrowse link
G P POLR3D RNA polymerase III subunit D ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,520,962...6,529,526
Ensembl chr14:6,521,024...6,532,156
JBrowse link
G S Polr3d RNA polymerase III subunit D ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,051,528...6,057,165
Ensembl chrNW_004936555:6,051,476...6,057,164
JBrowse link
G D POLR3D RNA polymerase III subunit D ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,011,189...35,016,617
Ensembl chr25:35,011,861...35,016,605
JBrowse link
G B POLR3D RNA polymerase III subunit D ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,489,492...21,499,948
Ensembl chr 8:18,429,013...18,435,060
JBrowse link
G C Polr3d RNA polymerase III subunit D ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,721,266...45,727,214
Ensembl chrNW_004955403:45,721,266...45,727,214
JBrowse link
G R Polr3d RNA polymerase III subunit D ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,921,283...51,925,952
Ensembl chr15:45,511,589...45,516,353
JBrowse link
G M Polr3d polymerase (RNA) III (DNA directed) polypeptide D ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,676,188...70,680,911
Ensembl chr14:70,676,197...70,680,887
JBrowse link
G H POLR3D RNA polymerase III subunit D IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,245,133...22,254,601
Ensembl chr 8:22,245,133...22,254,601
JBrowse link
G N Ppp3cc protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:17,969,777...18,048,476
Ensembl chrNW_004624758:17,969,705...18,049,904
JBrowse link
G G PPP3CC protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,522,829...20,621,445 JBrowse link
G P PPP3CC protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,711,789...6,799,318
Ensembl chr14:6,711,442...6,794,667
JBrowse link
G S Ppp3cc protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,216,202...6,283,012
Ensembl chrNW_004936555:6,236,464...6,283,012
JBrowse link
G D PPP3CC protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,732,268...34,839,743
Ensembl chr25:34,725,226...34,838,994
JBrowse link
G B PPP3CC protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,690,598...21,791,335
Ensembl chr 8:18,629,261...18,729,995
JBrowse link
G C Ppp3cc protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,915,985...45,969,350
Ensembl chrNW_004955403:45,916,002...45,968,185
JBrowse link
G R Ppp3cc protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,699,586...51,771,763
Ensembl chr15:45,290,373...45,361,832
JBrowse link
G M Ppp3cc protein phosphatase 3, catalytic subunit, gamma isoform ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,455,314...70,526,979
Ensembl chr14:70,455,314...70,526,920
JBrowse link
G H PPP3CC protein phosphatase 3 catalytic subunit gamma IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,441,078...22,541,125
Ensembl chr 8:22,440,819...22,541,142
JBrowse link
G N R3hcc1 R3H domain and coiled-coil containing 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,559,670...18,566,342
Ensembl chrNW_004624758:18,545,859...18,566,179
JBrowse link
G G R3HCC1 R3H domain and coiled-coil containing 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,407,791...21,415,927 JBrowse link
G P R3HCC1 R3H domain and coiled-coil containing 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:7,419,558...7,434,938
Ensembl chr14:7,405,792...7,434,935
JBrowse link
G S R3hcc1 R3H domain and coiled-coil containing 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,773,104...6,779,608
Ensembl chrNW_004936555:6,773,045...6,782,983
JBrowse link
G D R3HCC1 R3H domain and coiled-coil containing 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,187,691...34,206,970
Ensembl chr25:34,160,856...34,206,970
JBrowse link
G B R3HCC1 R3H domain and coiled-coil containing 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,538,046...22,546,405
Ensembl chr 8:19,474,061...19,482,437
JBrowse link
G C R3hcc1 R3H domain and coiled-coil containing 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:46,482,255...46,502,194
Ensembl chrNW_004955403:46,491,031...46,502,049
JBrowse link
G R R3hcc1 R3H domain and coiled-coil containing 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:44,774,552...44,781,864
Ensembl chr15:44,774,554...44,791,800
JBrowse link
G M R3hcc1 R3H domain and coiled-coil containing 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:69,934,753...69,952,258
Ensembl chr14:69,934,756...69,945,033
JBrowse link
G H R3HCC1 R3H domain and coiled-coil containing 1 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,288,092...23,296,279
Ensembl chr 8:23,270,120...23,296,279
JBrowse link
G N Reep4 receptor accessory protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:17,720,917...17,724,741
Ensembl chrNW_004624758:17,720,700...17,724,702
JBrowse link
G G REEP4 receptor accessory protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,207,609...20,211,509
Ensembl chr 8:20,207,592...20,211,417
JBrowse link
G P REEP4 receptor accessory protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,411,510...6,415,612
Ensembl chr14:6,411,513...6,415,590
JBrowse link
G S Reep4 receptor accessory protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:5,958,586...5,962,472
Ensembl chrNW_004936555:5,958,352...5,962,524
JBrowse link
G D REEP4 receptor accessory protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,109,210...35,113,152
Ensembl chr25:35,109,236...35,117,048
JBrowse link
G B REEP4 receptor accessory protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,382,943...21,386,871
Ensembl chr 8:18,322,302...18,326,212
JBrowse link
G C Reep4 receptor accessory protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,627,750...45,631,481
Ensembl chrNW_004955403:45,627,750...45,631,481
JBrowse link
G R Reep4 receptor accessory protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:52,030,022...52,033,229
Ensembl chr15:45,619,941...45,623,526
JBrowse link
G M Reep4 receptor accessory protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,782,666...70,786,375
Ensembl chr14:70,782,691...70,786,373
JBrowse link
G H REEP4 receptor accessory protein 4 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,138,020...22,141,907
Ensembl chr 8:22,138,020...22,141,951
JBrowse link
G N Rhobtb2 Rho related BTB domain containing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,444,684...18,463,988
Ensembl chrNW_004624758:18,444,608...18,464,071
JBrowse link
G G RHOBTB2 Rho related BTB domain containing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,069,255...21,098,000
Ensembl chr 8:21,079,411...21,097,026
JBrowse link
G P RHOBTB2 Rho related BTB domain containing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:7,223,209...7,254,813
Ensembl chr14:7,222,981...7,254,780
JBrowse link
G S Rhobtb2 Rho related BTB domain containing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,664,811...6,684,756
Ensembl chrNW_004936555:6,664,768...6,682,822
JBrowse link
G D RHOBTB2 Rho related BTB domain containing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,299,363...34,329,052
Ensembl chr25:34,300,780...34,322,217
JBrowse link
G B RHOBTB2 Rho related BTB domain containing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,246,075...22,269,443
Ensembl chr 8:19,183,931...19,209,420
JBrowse link
G C Rhobtb2 Rho related BTB domain containing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:46,367,390...46,390,551
Ensembl chrNW_004955403:46,371,054...46,390,551
JBrowse link
G R Rhobtb2 Rho-related BTB domain containing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,278,024...51,298,209
Ensembl chr15:44,870,376...44,888,651
JBrowse link
G M Rhobtb2 Rho-related BTB domain containing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,022,439...70,062,296
Ensembl chr14:70,022,439...70,043,085
JBrowse link
G H RHOBTB2 Rho related BTB domain containing 2 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,950,813...23,020,199
Ensembl chr 8:22,987,417...23,020,509
JBrowse link
G N Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:17,742,439...17,744,664
Ensembl chrNW_004624758:17,742,415...17,744,655
JBrowse link
G G SFTPC surfactant protein C ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,229,756...20,233,568
Ensembl chr 8:20,230,870...20,234,020
JBrowse link
G P SFTPC surfactant protein C ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095
JBrowse link
G S Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:5,966,610...5,982,083
Ensembl chrNW_004936555:5,979,417...5,982,011
JBrowse link
G D SFTPC surfactant protein C ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,088,295...35,090,995
Ensembl chr25:35,088,279...35,091,457
JBrowse link
G B SFTPC surfactant protein C ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,402,060...21,409,438
Ensembl chr 8:18,345,940...18,348,764
JBrowse link
G C Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,649,149...45,651,421
Ensembl chrNW_004955403:45,649,122...45,651,837
JBrowse link
G R Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:52,006,274...52,009,324
Ensembl chr15:45,596,574...45,610,777
JBrowse link
G M Sftpc surfactant associated protein C ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,758,381...70,761,521
Ensembl chr14:70,758,389...70,761,521
JBrowse link
G H SFTPC surfactant protein C IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
G N Slc25a37 solute carrier family 25 member 37 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,753,465...18,792,025
Ensembl chrNW_004624758:18,753,336...18,792,088
JBrowse link
G G SLC25A37 solute carrier family 25 member 37 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,646,854...21,691,812
Ensembl chr 8:21,646,869...21,694,938
JBrowse link
G P SLC25A37 solute carrier family 25 member 37 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:7,665,002...7,709,998
Ensembl chr14:7,665,007...7,706,768
JBrowse link
G S Slc25a37 solute carrier family 25 member 37 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,980,239...7,016,490
Ensembl chrNW_004936555:6,980,194...7,018,134
JBrowse link
G D SLC25A37 solute carrier family 25 member 37 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:33,923,108...33,965,577
Ensembl chr25:33,894,132...33,965,398
JBrowse link
G B SLC25A37 solute carrier family 25 member 37 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,778,309...22,824,871
Ensembl chr 8:19,713,441...19,759,993
JBrowse link
G C Slc25a37 solute carrier family 25 member 37 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:46,697,560...46,739,082
Ensembl chrNW_004955403:46,697,560...46,739,903
JBrowse link
G R Slc25a37 solute carrier family 25 member 37 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:50,944,085...50,986,506
Ensembl chr15:44,536,727...44,577,199
JBrowse link
G M Slc25a37 solute carrier family 25, member 37 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:69,479,297...69,522,993
Ensembl chr14:69,479,297...69,522,561
JBrowse link
G H SLC25A37 solute carrier family 25 member 37 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,528,956...23,575,463
Ensembl chr 8:23,528,956...23,575,463
JBrowse link
G N Slc39a14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:17,911,889...17,954,870
Ensembl chrNW_004624758:17,912,827...17,953,294
JBrowse link
G G SLC39A14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,446,756...20,502,585 JBrowse link
G P SLC39A14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,639,485...6,687,929
Ensembl chr14:6,639,206...6,687,924
JBrowse link
G S Slc39a14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004939045:1...7,491 JBrowse link
G D SLC39A14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,854,371...34,901,030
Ensembl chr25:34,846,653...34,869,695
JBrowse link
G B SLC39A14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,617,529...21,672,726
Ensembl chr 8:18,555,895...18,621,510
JBrowse link
G C Slc39a14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,828,247...45,867,309
Ensembl chrNW_004955403:45,827,942...45,867,309
JBrowse link
G R Slc39a14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,786,517...51,833,260
Ensembl chr15:45,376,917...45,423,524
JBrowse link
G M Slc39a14 solute carrier family 39 (zinc transporter), member 14 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,540,916...70,588,873
Ensembl chr14:70,540,918...70,588,874
JBrowse link
G H SLC39A14 solute carrier family 39 member 14 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129
JBrowse link
G N Sorbs3 sorbin and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,058,972...18,083,509
Ensembl chrNW_004624758:18,058,306...18,084,378
JBrowse link
G G SORBS3 sorbin and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,627,947...20,655,700
Ensembl chr 8:20,630,437...20,656,154
JBrowse link
G P SORBS3 sorbin and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,802,944...6,831,152
Ensembl chr14:6,808,166...6,828,975
JBrowse link
G S Sorbs3 sorbin and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,292,213...6,316,264
Ensembl chrNW_004936555:6,292,205...6,316,306
JBrowse link
G D SORBS3 sorbin and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,701,495...34,725,231
Ensembl chr25:34,702,238...34,709,811
JBrowse link
G B SORBS3 sorbin and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,794,805...21,825,675
Ensembl chr 8:18,733,776...18,763,861
JBrowse link
G C Sorbs3 sorbin and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,973,381...46,003,807
Ensembl chrNW_004955403:45,977,245...46,006,355
JBrowse link
G R Sorbs3 sorbin and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,662,639...51,699,161
Ensembl chr15:45,253,379...45,284,758
JBrowse link
G M Sorbs3 sorbin and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,417,917...70,449,472
Ensembl chr14:70,417,917...70,449,438
JBrowse link
G H SORBS3 sorbin and SH3 domain containing 3 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,544,973...22,575,788
Ensembl chr 8:22,544,986...22,575,788
JBrowse link
G N Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 More... NCBI chrNW_004624747:386,763...395,515
Ensembl chrNW_004624747:388,904...395,098
JBrowse link
G G TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 More... NCBI chr19:5,980,114...5,986,313
Ensembl chr19:5,980,587...5,987,244
JBrowse link
G P TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 More... NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725
JBrowse link
G S Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 More... NCBI chrNW_004936619:3,662,567...3,670,470
Ensembl chrNW_004936619:3,664,468...3,670,525
JBrowse link
G D TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 More... NCBI chr26:29,529,071...29,533,240
Ensembl chr26:29,528,878...29,532,784
JBrowse link
G B TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 More... NCBI chr22:2,521,080...2,541,267 JBrowse link
G C Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 More... NCBI chrNW_004955442:18,320,674...18,327,062
Ensembl chrNW_004955442:18,319,762...18,325,337
JBrowse link
G R Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 More... NCBI chr11:95,913,610...95,923,392
Ensembl chr11:82,409,275...82,418,380
JBrowse link
G M Tbx1 T-box 1 ISO ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 More... NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421
JBrowse link
G H TBX1 T-box transcription factor 1 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar Annotator: match by term: Conotruncal anomaly face syndrome
OMIM
ClinVar
PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 More... NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
JBrowse link
G N Tbx2 T-box transcription factor 2 susceptibility ISO DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chrNW_004624871:2,428,757...2,437,447
Ensembl chrNW_004624871:2,429,407...2,437,447
JBrowse link
G G TBX2 T-box transcription factor 2 susceptibility ISO DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chr16:32,627,296...32,636,797
Ensembl chr16:32,627,819...32,636,880
JBrowse link
G P TBX2 T-box transcription factor 2 susceptibility ISO DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chr12:36,878,662...36,887,513
Ensembl chr12:36,878,675...36,887,513
JBrowse link
G S Tbx2 T-box transcription factor 2 susceptibility ISO DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chrNW_004936490:2,769,264...2,778,342
Ensembl chrNW_004936490:2,769,231...2,805,238
JBrowse link
G D TBX2 T-box transcription factor 2 susceptibility ISO DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chr 9:35,237,323...35,245,066
Ensembl chr 9:35,235,649...35,245,736
JBrowse link
G B TBX2 T-box transcription factor 2 susceptibility ISO DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chr17:55,501,932...55,511,537
Ensembl chr17:60,622,098...60,630,189
JBrowse link
G C Tbx2 T-box transcription factor 2 susceptibility ISO DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chrNW_004955451:2,458,612...2,466,264
Ensembl chrNW_004955451:2,457,568...2,466,639
JBrowse link
G R Tbx2 T-box transcription factor 2 susceptibility ISO DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chr10:71,177,082...71,186,275
Ensembl chr10:70,679,518...70,688,529
JBrowse link
G M Tbx2 T-box 2 susceptibility ISO DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chr11:85,723,441...85,732,774
Ensembl chr11:85,723,377...85,732,774
JBrowse link
G H TBX2 T-box transcription factor 2 susceptibility IAGP DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chr17:61,399,843...61,409,466
Ensembl chr17:61,399,843...61,409,466
JBrowse link
G G TNFRSF10A TNF receptor superfamily member 10a ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,318,987...21,351,641
Ensembl chr 8:21,315,149...21,351,673
JBrowse link
G B TNFRSF10A TNF receptor superfamily member 10a ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,440,502...22,476,790
Ensembl chr 8:19,378,547...19,414,724
JBrowse link
G H TNFRSF10A TNF receptor superfamily member 10a IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,190,452...23,225,102
Ensembl chr 8:23,190,452...23,225,102
JBrowse link
G N Tnfrsf10b TNF receptor superfamily member 10b ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,464,005...18,498,740 JBrowse link
G G TNFRSF10B TNF receptor superfamily member 10b ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,101,945...21,150,362
Ensembl chr 8:21,102,267...21,150,267
JBrowse link
G B TNFRSF10B TNF receptor superfamily member 10b ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,270,325...22,318,841
Ensembl chr 8:19,209,904...19,258,498
JBrowse link
G R Tnfrsf10b TNF receptor superfamily member 10b ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,249,883...51,278,091
Ensembl chr15:44,840,386...44,867,467
JBrowse link
G M Tnfrsf10b tumor necrosis factor receptor superfamily, member 10b ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,004,921...70,021,860
Ensembl chr14:70,004,921...70,021,860
JBrowse link
G H TNFRSF10B TNF receptor superfamily member 10b IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,020,133...23,069,031
Ensembl chr 8:23,020,133...23,069,031
JBrowse link
G B TNFRSF10C TNF receptor superfamily member 10c ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,352,777...22,368,737
Ensembl chr 8:19,292,020...19,307,719
JBrowse link
G H TNFRSF10C TNF receptor superfamily member 10c IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,102,921...23,117,445
Ensembl chr 8:23,102,921...23,117,445
JBrowse link
G B TNFRSF10D TNF receptor superfamily member 10d ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,385,592...22,414,142
Ensembl chr 8:19,324,232...19,352,766
JBrowse link
G H TNFRSF10D TNF receptor superfamily member 10d IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,135,588...23,164,027
Ensembl chr 8:23,135,588...23,164,027
JBrowse link
G R Tnfrsf22 tumor necrosis factor receptor superfamily, member 22 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 1:208,269,844...208,285,823
Ensembl chr 1:198,840,453...198,856,309
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    physical disorder 54044
      congenital heart disease 14506
        dextro-looped transposition of the great arteries 659
          double outlet right ventricle 567
            Conotruncal Cardiac Defects 469
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      respiratory system disease 65925
        thoracic disease 47582
          heart disease 40850
            congenital heart disease 14506
              heart septal defect 2292
                ventricular septal defect 1681
                  double outlet right ventricle 567
                    Conotruncal Cardiac Defects 469
paths to the root