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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:esophageal atresia
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Accession:DOID:10485 term browser browse the term
Definition:Congenital abnormality characterized by the lack of full development of the ESOPHAGUS that commonly occurs with TRACHEOESOPHAGEAL FISTULA. Symptoms include excessive SALIVATION; GAGGING; CYANOSIS; and DYSPNEA.
Synonyms:exact_synonym: Congenital atresia of esophagus;   Congenital imperforate esophagus;   Esophageal Atresias;   Imperforate esophagus;   Oesophageal atresia
 primary_id: MESH:D004933;   RDO:0003282
 xref: GARD:6381;   ICD10CM:Q39.0;   NCI:C87072
For additional species annotation, visit the Alliance of Genome Resources.


Please select species to view GViewer data.
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esophageal atresia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H AL109946.1 novel transcript, antisense to MID2 IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:107,894,597...107,935,980
Ensembl chr  X:107,857,364...107,936,230
JBrowse link
G M Ambra1 autophagy and beclin 1 regulator 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004624767:1,967,002...2,160,102 JBrowse link
G V AMBRA1 autophagy and beclin 1 regulator 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 1:18,777,807...18,932,784
Ensembl chr 1:18,734,926...18,932,785
JBrowse link
G P AMBRA1 autophagy and beclin 1 regulator 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:15,935,354...16,119,082
Ensembl chr 2:15,917,698...16,119,082
JBrowse link
G S Ambra1 autophagy and beclin 1 regulator 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004936562:2,493,823...2,676,868 JBrowse link
G D AMBRA1 autophagy and beclin 1 regulator 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr18:42,903,815...43,073,918
Ensembl chr18:42,932,513...43,072,827
JBrowse link
G B AMBRA1 autophagy and beclin 1 regulator 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr11:46,355,026...46,556,091
Ensembl chr11:46,905,454...47,103,205
JBrowse link
G C Ambra1 autophagy and beclin 1 regulator 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004955422:1,455,392...1,644,368
Ensembl chrNW_004955422:1,455,380...1,644,452
JBrowse link
G R Ambra1 autophagy and beclin 1 regulator 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 3:80,634,470...80,830,068
Ensembl chr 3:80,634,470...80,830,068
JBrowse link
G M Ambra1 autophagy/beclin 1 regulator 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:91,730,138...91,918,849
Ensembl chr 2:91,730,134...91,918,849
JBrowse link
G H AMBRA1 autophagy and beclin 1 regulator 1 IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr11:46,396,412...46,594,055
Ensembl chr11:46,396,414...46,594,125
JBrowse link
G M Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004624907:715,109...736,040 JBrowse link
G V ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 6:36,166,586...36,195,343 JBrowse link
G P ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 6:49,905,851...49,927,437 JBrowse link
G S Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004936706:476,473...494,659 JBrowse link
G D ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916
JBrowse link
G B ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr19:38,854,243...38,882,034 JBrowse link
G C Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004955555:869,508...892,510 JBrowse link
G R Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G M Atp1a3 ATPase, Na+/K+ transporting, alpha 3 polypeptide ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 7:24,978,167...25,006,077
Ensembl chr 7:24,978,167...25,005,958
JBrowse link
G H ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
JBrowse link
G M Atp6v0a1 ATPase H+ transporting V0 subunit a1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004624795:1,561,104...1,607,693 JBrowse link
G V ATP6V0A1 ATPase H+ transporting V0 subunit a1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr16:63,754,523...63,818,537
Ensembl chr16:63,753,521...63,816,551
JBrowse link
G P ATP6V0A1 ATPase H+ transporting V0 subunit a1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr12:20,288,409...20,344,142
Ensembl chr12:20,288,409...20,344,128
JBrowse link
G S Atp6v0a1 ATPase H+ transporting V0 subunit a1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004936490:17,235,661...17,296,589 JBrowse link
G D ATP6V0A1 ATPase H+ transporting V0 subunit a1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 9:20,422,144...20,486,459
Ensembl chr 9:20,423,373...20,484,328
JBrowse link
G B ATP6V0A1 ATPase H+ transporting V0 subunit a1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr17:14,793,717...14,857,706
Ensembl chr17:15,017,695...15,082,470
JBrowse link
G C Atp6v0a1 ATPase H+ transporting V0 subunit a1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004955451:16,396,287...16,442,596
Ensembl chrNW_004955451:16,396,287...16,444,932
JBrowse link
G R Atp6v0a1 ATPase H+ transporting V0 subunit a1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:88,914,264...88,967,736
Ensembl chr10:88,914,276...88,967,748
JBrowse link
G M Atp6v0a1 ATPase, H+ transporting, lysosomal V0 subunit A1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr11:101,009,422...101,063,719
Ensembl chr11:101,009,452...101,063,719
JBrowse link
G H ATP6V0A1 ATPase H+ transporting V0 subunit a1 IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr17:42,458,874...42,522,579
Ensembl chr17:42,458,844...42,522,582
Ensembl chr17:42,458,844...42,522,582
JBrowse link
G V C2CD4A C2 calcium dependent domain containing 4A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr26:21,453,198...21,458,225
Ensembl chr26:21,455,439...21,456,554
JBrowse link
G S C2cd4a C2 calcium dependent domain containing 4A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004936471:22,847,090...22,850,006 JBrowse link
G D C2CD4A C2 calcium dependent domain containing 4A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr30:26,783,282...26,787,016 JBrowse link
G B C2CD4A C2 calcium dependent domain containing 4A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr15:41,020,652...41,031,100 JBrowse link
G R C2cd4a C2 calcium-dependent domain containing 4A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 8:73,671,516...73,686,344
Ensembl chr 8:73,672,295...73,673,317
JBrowse link
G M C2cd4a C2 calcium-dependent domain containing 4A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 9:67,830,532...67,832,330
Ensembl chr 9:67,830,489...67,832,330
JBrowse link
G H C2CD4A C2 calcium dependent domain containing 4A IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr15:62,066,977...62,070,917
Ensembl chr15:62,066,977...62,070,917
JBrowse link
G M Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004624735:10,201,030...10,927,349 JBrowse link
G V CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr11:2,107,722...2,753,970
Ensembl chr11:2,508,705...2,752,991
JBrowse link
G P CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 5:69,016,954...69,448,428 JBrowse link
G S Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004936606:2,168,104...2,867,560 JBrowse link
G D CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr27:44,007,363...44,748,251
Ensembl chr27:44,008,020...44,746,429
JBrowse link
G B CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826
JBrowse link
G C Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004955454:4,573,647...5,199,046
Ensembl chrNW_004955454:4,490,923...5,198,506
JBrowse link
G R Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link
G M Cacna1c calcium channel, voltage-dependent, L type, alpha 1C subunit ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 6:118,587,240...119,197,384
Ensembl chr 6:118,587,240...119,196,890
Ensembl chr 6:118,587,240...119,196,890
JBrowse link
G H CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr12:1,969,552...2,697,950
Ensembl chr12:1,970,786...2,697,950
JBrowse link
G H CACNA1C-AS1 CACNA1C antisense RNA 1 IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr12:2,676,001...2,691,157
Ensembl chr12:2,676,001...2,691,200
JBrowse link
G M Cdc27 cell division cycle 27 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004624849:2,026,433...2,105,626 JBrowse link
G V CDC27 cell division cycle 27 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr16:59,497,731...59,564,298
Ensembl chr16:59,497,713...59,564,480
JBrowse link
G P CDC27 cell division cycle 27 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr12:16,810,868...16,882,271
Ensembl chr12:16,810,910...16,882,269
JBrowse link
G S Cdc27 cell division cycle 27 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004936541:2,700,997...2,762,180 JBrowse link
G D CDC27 cell division cycle 27 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 9:9,281,152...9,351,629
Ensembl chr 9:9,281,196...9,348,678
JBrowse link
G B CDC27 cell division cycle 27 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr17:10,259,194...10,331,011
Ensembl chr17:10,473,646...10,545,549
JBrowse link
G C Cdc27 cell division cycle 27 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004955478:9,927,871...10,002,020
Ensembl chrNW_004955478:9,927,871...10,002,020
JBrowse link
G R Cdc27 cell division cycle 27 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:92,551,754...92,602,214
Ensembl chr10:92,554,081...92,602,082
JBrowse link
G M Cdc27 cell division cycle 27 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr11:104,502,524...104,550,620
Ensembl chr11:104,502,745...104,550,620
JBrowse link
G H CDC27 cell division cycle 27 IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr17:47,117,703...47,189,295
Ensembl chr17:47,117,703...47,189,422
JBrowse link
G M Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chrNW_004624744:31,103,053...31,302,314 JBrowse link
G V CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chr 8:56,654,939...56,782,803
Ensembl chr 8:56,657,826...56,785,804
JBrowse link
G P CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,571,874...72,754,432
JBrowse link
G S Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chrNW_004936496:12,381,225...12,505,121 JBrowse link
G D CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chr29:11,115,865...11,284,713
Ensembl chr29:11,156,340...11,283,627
JBrowse link
G B CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chr 8:57,091,002...57,282,471
Ensembl chr 8:58,816,840...58,945,186
JBrowse link
G C Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chrNW_004955444:17,859,999...18,067,623
Ensembl chrNW_004955444:17,858,771...18,067,248
JBrowse link
G R Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G M Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chr 4:8,690,402...8,868,449
Ensembl chr 4:8,690,406...8,867,659
JBrowse link
G H CHD7 chromodomain helicase DNA binding protein 7 IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
G M Cmip c-Maf inducing protein ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004624746:5,866,261...6,049,217 JBrowse link
G V CMIP c-Maf inducing protein ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 5:66,880,234...67,142,449 JBrowse link
G P CMIP c-Maf inducing protein ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 6:6,653,237...6,881,874
Ensembl chr 6:6,654,388...6,881,662
JBrowse link
G S Cmip c-Maf inducing protein ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004936475:29,130,483...29,205,750 JBrowse link
G D CMIP c-Maf inducing protein ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 5:70,251,032...70,376,300
Ensembl chr 5:70,249,228...70,436,213
JBrowse link
G B CMIP c-Maf inducing protein ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr16:62,048,888...62,316,799
Ensembl chr16:81,475,038...81,737,518
JBrowse link
G C Cmip c-Maf inducing protein ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004955522:4,128,454...4,314,340
Ensembl chrNW_004955522:4,128,454...4,315,322
JBrowse link
G R Cmip c-Maf-inducing protein ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr19:49,792,273...50,000,535
Ensembl chr19:49,792,273...50,000,535
JBrowse link
G M Cmip c-Maf inducing protein ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 8:117,257,019...117,461,506
Ensembl chr 8:117,257,064...117,459,430
JBrowse link
G H CMIP c-Maf inducing protein IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr16:81,444,808...81,711,762
Ensembl chr16:81,445,170...81,711,762
JBrowse link
G M Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004624795:6,167,504...6,183,208 JBrowse link
G V COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:25741868, PMID:30311386 NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930
JBrowse link
G P COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:25741868, PMID:30311386 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G S Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004936490:11,448,552...11,465,836 JBrowse link
G D COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:25741868, PMID:30311386 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G B COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:25741868, PMID:30311386 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G C Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073
JBrowse link
G R Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G M Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:25741868, PMID:30311386 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G H COL1A1 collagen type I alpha 1 chain IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:25741868, PMID:30311386 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G M Drosha drosha ribonuclease III ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004624759:22,949,225...23,082,263 JBrowse link
G V DROSHA drosha ribonuclease III ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 4:30,665,759...30,807,047
Ensembl chr 4:30,665,131...30,795,442
JBrowse link
G P DROSHA drosha ribonuclease III ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr16:17,727,695...17,847,954
Ensembl chr16:17,565,137...17,848,073
JBrowse link
G S Drosha drosha ribonuclease III ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004936518:9,100,094...9,218,405 JBrowse link
G B DROSHA drosha ribonuclease III ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 5:78,813,923...78,945,149
Ensembl chr 5:84,194,546...84,322,310
JBrowse link
G C Drosha drosha ribonuclease III ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004955426:17,387,595...17,505,126
Ensembl chrNW_004955426:17,387,534...17,502,294
JBrowse link
G R Drosha drosha ribonuclease III ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:62,887,267...63,000,307
Ensembl chr 2:62,887,267...62,999,572
JBrowse link
G M Drosha drosha, ribonuclease type III ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr15:12,824,804...12,935,291
Ensembl chr15:12,824,815...12,935,291
JBrowse link
G H DROSHA drosha ribonuclease III IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 5:31,400,494...31,532,142
Ensembl chr 5:31,400,497...31,532,196
JBrowse link
G M Dscam DS cell adhesion molecule ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004624745:28,969,464...29,560,557 JBrowse link
G V DSCAM DS cell adhesion molecule ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:83,969,555...84,738,661 JBrowse link
G P DSCAM DS cell adhesion molecule ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr13:203,566,765...204,292,079
Ensembl chr13:203,567,129...204,313,713
JBrowse link
G S Dscam DS cell adhesion molecule ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004936500:2,686,847...3,339,110 JBrowse link
G D DSCAM DS cell adhesion molecule ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr31:34,666,300...35,277,651
Ensembl chr31:34,669,424...35,400,160
JBrowse link
G B DSCAM DS cell adhesion molecule ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr21:26,366,295...27,192,617
Ensembl chr21:39,699,077...40,524,164
JBrowse link
G C Dscam DS cell adhesion molecule ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004955407:39,985,501...40,473,330
Ensembl chrNW_004955407:39,986,108...40,473,200
JBrowse link
G R Dscam DS cell adhesion molecule ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr11:37,004,776...37,599,866
Ensembl chr11:37,004,902...37,253,776
JBrowse link
G M Dscam DS cell adhesion molecule ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr16:96,587,452...97,171,113
Ensembl chr16:96,590,840...97,170,752
JBrowse link
G H DSCAM DS cell adhesion molecule IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr21:40,010,999...40,847,158
Ensembl chr21:40,010,999...40,847,158
JBrowse link
G M Dst dystonin ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004624753:18,321,591...18,778,090 JBrowse link
G V DST dystonin ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr17:14,652,044...15,133,172
Ensembl chr17:14,652,233...15,133,862
JBrowse link
G P DST dystonin ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 7:28,812,423...29,300,149
Ensembl chr 7:28,812,334...29,300,153
JBrowse link
G S Dst dystonin ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004936476:4,344,673...4,772,892 JBrowse link
G D DST dystonin ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr12:23,715,637...24,195,220
Ensembl chr12:23,716,466...24,195,416
JBrowse link
G B DST dystonin ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 6:56,014,832...56,513,346 JBrowse link
G C Dst dystonin ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004955502:3,175,918...3,610,823
Ensembl chrNW_004955502:3,267,527...3,610,823
JBrowse link
G R Dst dystonin ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 9:37,902,336...38,296,961
Ensembl chr 9:37,902,303...38,196,273
JBrowse link
G M Dst dystonin ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 1:33,907,888...34,308,662
Ensembl chr 1:33,908,225...34,308,661
JBrowse link
G H DST dystonin IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 6:56,457,996...56,954,830
Ensembl chr 6:56,457,987...56,954,649
JBrowse link
G M Eftud2 elongation factor Tu GTP binding domain containing 2 ISO DNA:mutations:multiple (human) RGD PMID:23188108 RGD:10045556 NCBI chrNW_004624795:407,228...435,578 JBrowse link
G V EFTUD2 elongation factor Tu GTP binding domain containing 2 ISO DNA:mutations:multiple (human) RGD PMID:23188108 RGD:10045556 NCBI chr16:61,505,796...61,549,720
Ensembl chr16:61,505,825...61,551,890
JBrowse link
G P EFTUD2 elongation factor Tu GTP binding domain containing 2 ISO DNA:mutations:multiple (human) RGD PMID:23188108 RGD:10045556 NCBI chr12:18,474,367...18,514,993
Ensembl chr12:18,474,096...18,517,479
JBrowse link
G S Eftud2 elongation factor Tu GTP binding domain containing 2 ISO DNA:mutations:multiple (human) RGD PMID:23188108 RGD:10045556 NCBI chrNW_004936541:1,216,584...1,259,355 JBrowse link
G D EFTUD2 elongation factor Tu GTP binding domain containing 2 ISO DNA:mutations:multiple (human) RGD PMID:23188108 RGD:10045556 NCBI chr 9:18,585,918...18,631,743
Ensembl chr 9:18,585,971...18,635,570
JBrowse link
G B EFTUD2 elongation factor Tu GTP binding domain containing 2 ISO DNA:mutations:multiple (human) RGD PMID:23188108 RGD:10045556 NCBI chr17:12,423,198...12,472,462
Ensembl chr17:12,595,715...12,644,147
JBrowse link
G C Eftud2 elongation factor Tu GTP binding domain containing 2 ISO DNA:mutations:multiple (human) RGD PMID:23188108 RGD:10045556 NCBI chrNW_004955451:17,655,659...17,690,117
Ensembl chrNW_004955451:17,653,125...17,690,117
JBrowse link
G R Eftud2 elongation factor Tu GTP binding domain containing 2 ISO DNA:mutations:multiple (human) RGD PMID:23188108 RGD:10045556 NCBI chr10:90,932,071...90,983,971
Ensembl chr10:90,932,075...90,983,928
JBrowse link
G M Eftud2 elongation factor Tu GTP binding domain containing 2 ISO DNA:mutations:multiple (human) RGD PMID:23188108 RGD:10045556 NCBI chr11:102,838,472...102,880,984
Ensembl chr11:102,838,473...102,880,985
JBrowse link
G H EFTUD2 elongation factor Tu GTP binding domain containing 2 IAGP DNA:mutations:multiple (human) RGD PMID:23188108 RGD:10045556 NCBI chr17:44,849,948...44,899,445
Ensembl chr17:44,849,948...44,899,445
JBrowse link
G M Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004624733:27,506,827...27,593,750 JBrowse link
G V GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr23:64,422,519...64,512,124
Ensembl chr23:64,422,391...64,513,652
JBrowse link
G P GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr16:61,441,622...61,543,375
Ensembl chr16:61,441,626...61,543,361
JBrowse link
G S Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004936515:1,609,370...1,670,412 JBrowse link
G D GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 4:48,794,770...48,901,859
Ensembl chr 4:48,796,852...48,901,548
JBrowse link
G B GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 5:157,436,113...157,529,586
Ensembl chr 5:164,068,122...164,222,179
JBrowse link
G C Gabrg2 gamma-aminobutyric acid type A receptor gamma2 subunit ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004955408:15,766,161...15,857,121
Ensembl chrNW_004955408:15,765,984...15,857,244
JBrowse link
G R Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
G M Gabrg2 gamma-aminobutyric acid (GABA) A receptor, subunit gamma 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr11:41,910,190...42,000,857
Ensembl chr11:41,910,203...42,000,857
JBrowse link
G H GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
JBrowse link
G V GSTM1 glutathione S-transferase mu 1 ISO DNA:deletion:: (human) RGD PMID:20740495 RGD:12792229 NCBI chr20:23,854,969...23,861,634 JBrowse link
G B GSTM1 glutathione S-transferase mu 1 ISO DNA:deletion:: (human) RGD PMID:20740495 RGD:12792229 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G R Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion:: (human) RGD PMID:20740495 RGD:12792229 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G M Gstm1 glutathione S-transferase, mu 1 ISO DNA:deletion:: (human) RGD PMID:20740495 RGD:12792229 NCBI chr 3:108,012,250...108,017,973
Ensembl chr 3:108,012,255...108,017,973
JBrowse link
G H GSTM1 glutathione S-transferase mu 1 IAGP DNA:deletion:: (human) RGD PMID:20740495 RGD:12792229 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G M Hoxc4 homeobox C4 ISO mRNA:decreased expression:lung (mouse) RGD PMID:17211587 RGD:10402180 NCBI chrNW_004624904:2,104,504...2,109,729 JBrowse link
G V HOXC4 homeobox C4 ISO mRNA:decreased expression:lung (mouse) RGD PMID:17211587 RGD:10402180 NCBI chr11:50,127,573...50,167,077
Ensembl chr11:50,164,980...50,166,267
JBrowse link
G P HOXC4 homeobox C4 ISO mRNA:decreased expression:lung (mouse) RGD PMID:17211587 RGD:10402180 NCBI chr 5:19,250,411...19,268,267
Ensembl chr 5:19,265,081...19,268,257
JBrowse link
G S Hoxc4 homeobox C4 ISO mRNA:decreased expression:lung (mouse) RGD PMID:17211587 RGD:10402180 NCBI chrNW_004936512:11,238,905...11,277,531 JBrowse link
G D HOXC4 homeobox C4 ISO mRNA:decreased expression:lung (mouse) RGD PMID:17211587 RGD:10402180 NCBI chr27:1,209,510...1,246,873
Ensembl chr27:1,172,229...1,226,572
JBrowse link
G B HOXC4 homeobox C4 ISO mRNA:decreased expression:lung (mouse) RGD PMID:17211587 RGD:10402180 NCBI chr12:34,699,357...34,702,368
Ensembl chr12:35,487,619...35,526,627
JBrowse link
G C Hoxc4 homeobox C4 ISO mRNA:decreased expression:lung (mouse) RGD PMID:17211587 RGD:10402180 NCBI chrNW_004955458:1,251,601...1,313,291
Ensembl chrNW_004955458:1,309,119...1,313,344
JBrowse link
G R Hoxc4 homeo box C4 ISO mRNA:decreased expression:lung (mouse) RGD PMID:17211587 RGD:10402180 NCBI chr 7:144,646,605...144,652,589
Ensembl chr 7:144,647,587...144,650,129
JBrowse link
G M Hoxc4 homeobox C4 IEP mRNA:decreased expression:lung (mouse) RGD PMID:17211587 RGD:10402180 NCBI chr15:103,018,097...103,036,856
Ensembl chr15:103,018,934...103,036,852
JBrowse link
G H HOXC4 homeobox C4 ISO mRNA:decreased expression:lung (mouse) RGD PMID:17211587 RGD:10402180 NCBI chr12:54,016,888...54,056,030
Ensembl chr12:54,016,931...54,056,030
JBrowse link
G M Igsf3 immunoglobulin superfamily member 3 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004624772:12,263,495...12,354,379 JBrowse link
G V IGSF3 immunoglobulin superfamily member 3 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr20:17,054,915...17,149,119
Ensembl chr20:17,055,617...17,149,166
JBrowse link
G P IGSF3 immunoglobulin superfamily member 3 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 4:104,044,784...104,167,173
Ensembl chr 4:103,994,463...104,167,173
JBrowse link
G S Igsf3 immunoglobulin superfamily member 3 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004936627:1,738,140...1,826,255 JBrowse link
G D IGSF3 immunoglobulin superfamily member 3 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr17:54,015,154...54,106,219
Ensembl chr17:54,017,456...54,106,535
JBrowse link
G B IGSF3 immunoglobulin superfamily member 3 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 1:85,852,214...85,989,556 JBrowse link
G C Igsf3 immunoglobulin superfamily member 3 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004955435:19,703,952...19,796,065
Ensembl chrNW_004955435:19,706,516...19,795,432
JBrowse link
G R Igsf3 immunoglobulin superfamily, member 3 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:203,768,364...203,855,573
Ensembl chr 2:203,768,117...203,855,573
JBrowse link
G M Igsf3 immunoglobulin superfamily, member 3 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 3:101,376,672...101,463,060
Ensembl chr 3:101,377,083...101,463,059
JBrowse link
G H IGSF3 immunoglobulin superfamily member 3 IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 1:116,574,398...116,667,755
Ensembl chr 1:116,574,399...116,667,755
JBrowse link
G M Insr insulin receptor ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004624828:345,135...485,856 JBrowse link
G V INSR insulin receptor ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 6:6,625,951...6,803,610
Ensembl chr 6:6,630,777...6,803,592
JBrowse link
G P INSR insulin receptor ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:71,797,209...71,939,923
Ensembl chr 2:71,797,204...71,936,139
JBrowse link
G S Insr insulin receptor ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004936588:4,345,306...4,453,380 JBrowse link
G D INSR insulin receptor ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046
JBrowse link
G B INSR insulin receptor ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889
JBrowse link
G C Insr insulin receptor ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004955563:1,867,400...2,011,845
Ensembl chrNW_004955563:1,867,400...2,009,149
JBrowse link
G R Insr insulin receptor ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G M Insr insulin receptor ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 8:3,150,922...3,279,649
Ensembl chr 8:3,122,061...3,279,617
JBrowse link
G H INSR insulin receptor IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr19:7,112,257...7,294,414
Ensembl chr19:7,112,255...7,294,414
JBrowse link
G M Itgb1 integrin subunit beta 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004624805:8,748,848...8,800,259 JBrowse link
G V ITGB1 integrin subunit beta 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 9:32,201,030...32,258,247
Ensembl chr 9:32,202,204...32,258,154
JBrowse link
G P ITGB1 integrin subunit beta 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:56,078,393...56,130,608
Ensembl chr10:56,078,398...56,173,795
JBrowse link
G S Itgb1 integrin subunit beta 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004936574:1,465,981...1,495,717 JBrowse link
G D ITGB1 integrin subunit beta 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:3,728,472...3,757,696
Ensembl chr 2:3,670,596...3,756,961
JBrowse link
G B ITGB1 integrin subunit beta 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:33,023,573...33,081,384
Ensembl chr10:33,608,978...33,644,031
JBrowse link
G C Itgb1 integrin subunit beta 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004955462:4,454,809...4,483,227
Ensembl chrNW_004955462:4,454,809...4,484,842
JBrowse link
G R Itgb1 integrin subunit beta 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr19:61,677,512...61,725,537
Ensembl chr19:61,677,542...61,725,535
JBrowse link
G M Itgb1 integrin beta 1 (fibronectin receptor beta) ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 8:128,685,654...128,733,579
Ensembl chr 8:128,685,654...128,733,200
JBrowse link
G H ITGB1 integrin subunit beta 1 IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:32,900,318...32,958,230
Ensembl chr10:32,900,318...33,005,792
JBrowse link
G M Kcna6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004624860:1,835,679...1,867,606 JBrowse link
G V KCNA6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr11:4,853,706...4,894,406
Ensembl chr11:4,854,570...4,856,162
JBrowse link
G P KCNA6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 5:65,625,581...65,659,557 JBrowse link
G S Kcna6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004936606:4,969,282...4,972,383 JBrowse link
G D KCNA6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr27:40,042,051...40,045,812
Ensembl chr27:40,044,334...40,045,812
JBrowse link
G B KCNA6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr12:4,926,069...4,968,475
Ensembl chr12:4,847,510...4,849,099
JBrowse link
G C Kcna6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004955413:2,614,685...2,676,292
Ensembl chrNW_004955413:2,614,685...2,676,292
JBrowse link
G R Kcna6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 4:159,253,934...159,287,193
Ensembl chr 4:159,253,934...159,287,193
JBrowse link
G M Kcna6 potassium voltage-gated channel, shaker-related, subfamily, member 6 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 6:126,708,328...126,740,834
Ensembl chr 6:126,708,329...126,740,674
JBrowse link
G H KCNA6 potassium voltage-gated channel subfamily A member 6 IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr12:4,806,877...4,851,927
Ensembl chr12:4,809,176...4,813,412
Ensembl chr12:4,809,176...4,813,412
JBrowse link
G P LOC100152206 C2 calcium-dependent domain-containing protein 4A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 1:109,920,142...109,927,760 JBrowse link
G B LOC100988550 signal transducer and activator of transcription 5A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr17:15,005,025...15,029,110
Ensembl chr17:15,228,465...15,251,783
JBrowse link
G M Mid2 midline 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004624803:8,536,946...8,650,775 JBrowse link
G V MID2 midline 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:95,664,705...95,760,256
Ensembl chr  X:95,665,380...95,764,762
JBrowse link
G P MID2 midline 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:88,294,032...88,394,885
Ensembl chr  X:88,294,066...88,393,742
JBrowse link
G S Mid2 midline 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004936499:6,833,328...6,926,531 JBrowse link
G D MID2 midline 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:81,267,037...81,467,613
Ensembl chr  X:81,296,249...81,463,210
JBrowse link
G B MID2 midline 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:96,917,731...97,026,545
Ensembl chr  X:107,290,776...107,393,162
JBrowse link
G C Mid2 midline 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004955490:7,977,771...8,168,912
Ensembl chrNW_004955490:7,973,211...8,088,427
JBrowse link
G R Mid2 midline 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:112,019,897...112,121,980
Ensembl chr  X:112,020,646...112,121,943
JBrowse link
G M Mid2 midline 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:140,664,304...140,767,715
Ensembl chr  X:140,664,599...140,767,715
JBrowse link
G H MID2 midline 2 IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:107,825,735...107,931,637
Ensembl chr  X:107,825,755...107,927,193
JBrowse link
G M Nags N-acetylglutamate synthase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004624795:875,463...879,283 JBrowse link
G V NAGS N-acetylglutamate synthase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr16:62,390,001...62,395,162
Ensembl chr16:62,390,468...62,394,453
JBrowse link
G P NAGS N-acetylglutamate synthase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr12:19,170,398...19,173,968
Ensembl chr12:19,169,961...19,174,747
JBrowse link
G S Nags N-acetylglutamate synthase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004936541:501,981...507,994 JBrowse link
G D NAGS N-acetylglutamate synthase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 9:19,344,073...19,349,395
Ensembl chr 9:19,344,902...19,349,207
JBrowse link
G B NAGS N-acetylglutamate synthase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr17:13,386,207...13,390,724
Ensembl chr17:13,553,424...13,558,269
JBrowse link
G C Nags N-acetylglutamate synthase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004955451:17,182,392...17,186,187
Ensembl chrNW_004955451:17,182,379...17,184,894
JBrowse link
G R Nags N-acetylglutamate synthase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:90,084,607...90,089,693
Ensembl chr10:90,085,559...90,089,693
JBrowse link
G M Nags N-acetylglutamate synthase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr11:102,145,513...102,149,528
Ensembl chr11:102,145,513...102,149,477
JBrowse link
G H NAGS N-acetylglutamate synthase IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr17:44,004,546...44,009,068
Ensembl chr17:44,004,622...44,009,068
JBrowse link
G M Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004624760:1,636,331...1,676,398 JBrowse link
G V NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585
JBrowse link
G P NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar
G S Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004936669:1,292,016...1,334,061 JBrowse link
G D NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277
JBrowse link
G B NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740
JBrowse link
G C Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004955513:4,225,939...4,264,875
Ensembl chrNW_004955513:4,225,956...4,263,259
JBrowse link
G R Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G M Notch1 notch 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:26,457,902...26,503,822
Ensembl chr 2:26,457,903...26,516,663
JBrowse link
G H NOTCH1 notch receptor 1 IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G V PDE4D phosphodiesterase 4D ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 4:55,148,012...56,665,684
Ensembl chr 4:55,153,563...55,390,027
JBrowse link
G P PDE4D phosphodiesterase 4D ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr16:37,897,300...39,406,534
Ensembl chr16:37,897,300...39,154,586
JBrowse link
G S Pde4d phosphodiesterase 4D ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004936480:8,123,437...9,235,586 JBrowse link
G D PDE4D phosphodiesterase 4D ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:45,843,767...47,245,263
Ensembl chr 2:45,846,294...46,949,912
JBrowse link
G B PDE4D phosphodiesterase 4D ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 5:53,510,287...55,039,181
Ensembl chr 5:55,749,214...56,670,111
JBrowse link
G C Pde4d phosphodiesterase 4D ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004955446:7,914,326...9,252,527
Ensembl chrNW_004955446:8,211,877...9,252,653
JBrowse link
G R Pde4d phosphodiesterase 4D ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:40,219,999...41,468,551
Ensembl chr 2:40,554,146...41,464,264
JBrowse link
G M Pde4d phosphodiesterase 4D, cAMP specific ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr13:108,654,177...109,955,969
Ensembl chr13:108,449,948...109,953,461
JBrowse link
G H PDE4D phosphodiesterase 4D IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 5:58,969,038...60,524,329
Ensembl chr 5:58,969,038...60,522,120
JBrowse link
G M Plk2 polo like kinase 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004624759:811,320...817,401 JBrowse link
G V PLK2 polo like kinase 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 4:54,629,868...54,636,134
Ensembl chr 4:54,629,194...54,636,032
JBrowse link
G P PLK2 polo like kinase 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr16:37,299,116...37,305,114
Ensembl chr16:37,299,116...37,305,116
JBrowse link
G S Plk2 polo like kinase 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004936480:9,680,461...9,686,593 JBrowse link
G D PLK2 polo like kinase 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:45,359,865...45,365,496
Ensembl chr 2:45,360,374...45,367,441
JBrowse link
G B PLK2 polo like kinase 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 5:55,543,828...55,550,116
Ensembl chr 5:57,177,836...57,184,793
JBrowse link
G C Plk2 polo like kinase 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004955446:9,671,090...9,676,956
Ensembl chrNW_004955446:9,671,090...9,677,188
JBrowse link
G R Plk2 polo-like kinase 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:41,911,143...41,916,901
Ensembl chr 2:41,911,131...41,916,901
JBrowse link
G M Plk2 polo like kinase 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr13:110,395,044...110,400,844
Ensembl chr13:110,395,046...110,400,844
JBrowse link
G H PLK2 polo like kinase 2 IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 5:58,453,982...58,460,086
Ensembl chr 5:58,453,982...58,460,139
JBrowse link
G M Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004624762:17,135,870...17,199,693 JBrowse link
G V RPGR retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar
G P RPGR retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:34,238,961...34,522,814 JBrowse link
G S Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004936502:5,163,164...5,212,940 JBrowse link
G D RPGR retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:33,056,371...33,105,036
Ensembl chr  X:32,745,020...33,330,841
JBrowse link
G B RPGR retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:30,718,669...30,777,671 JBrowse link
G C Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004955601:398,772...453,271 JBrowse link
G R Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
JBrowse link
G M Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:10,158,216...10,216,795
Ensembl chr  X:10,073,621...10,216,920
JBrowse link
G H RPGR retinitis pigmentosa GTPase regulator IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,170...38,327,544
Ensembl chr  X:38,269,170...38,327,544
JBrowse link
G M Sipa1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004624767:20,745,125...20,757,243 JBrowse link
G V SIPA1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 1:8,588,221...8,601,310
Ensembl chr 1:8,586,685...8,598,455
JBrowse link
G P SIPA1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:6,606,613...6,618,556
Ensembl chr 2:6,606,626...6,618,578
JBrowse link
G S Sipa1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004936599:3,813,350...3,825,319 JBrowse link
G D SIPA1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr18:51,560,551...51,571,291
Ensembl chr18:51,560,551...51,568,885
JBrowse link
G B SIPA1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr11:60,997,292...61,010,155
Ensembl chr11:64,335,136...64,344,955
JBrowse link
G C Sipa1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004955422:19,615,440...19,627,195
Ensembl chrNW_004955422:19,615,440...19,627,088
JBrowse link
G R Sipa1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 1:221,006,305...221,018,820
Ensembl chr 1:221,006,340...221,015,929
JBrowse link
G M Sipa1 signal-induced proliferation associated gene 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr19:5,651,185...5,663,722
Ensembl chr19:5,651,185...5,663,707
JBrowse link
G H SIPA1 signal-induced proliferation-associated 1 IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr11:65,638,101...65,650,930
Ensembl chr11:65,638,101...65,650,918
JBrowse link
G V STAT5A signal transducer and activator of transcription 5A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr16:63,959,265...63,986,627
Ensembl chr16:63,960,515...63,985,026
JBrowse link
G P STAT5A signal transducer and activator of transcription 5A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr12:20,474,221...20,498,785
Ensembl chr12:20,474,225...20,499,138
JBrowse link
G D STAT5A signal transducer and activator of transcription 5A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 9:20,616,041...20,638,523
Ensembl chr 9:20,617,151...20,638,103
JBrowse link
G C Stat5a signal transducer and activator of transcription 5A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004955451:16,305,363...16,319,219 JBrowse link
G R Stat5a signal transducer and activator of transcription 5A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:88,764,732...88,789,060
Ensembl chr10:88,764,732...88,789,057
JBrowse link
G M Stat5a signal transducer and activator of transcription 5A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr11:100,859,351...100,885,169
Ensembl chr11:100,859,351...100,885,169
JBrowse link
G H STAT5A signal transducer and activator of transcription 5A IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr17:42,287,547...42,311,943
Ensembl chr17:42,287,547...42,311,943
JBrowse link
G M Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:28492532 NCBI chrNW_004624792:686,360...1,030,199 JBrowse link
G V TCF4 transcription factor 4 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:28492532 NCBI chr18:24,116,595...24,483,037
Ensembl chr18:24,116,547...24,478,228
JBrowse link
G P TCF4 transcription factor 4 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:28492532 NCBI chr 1:104,718,809...105,079,919
Ensembl chr 1:104,719,137...105,079,919
JBrowse link
G S Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:28492532 NCBI chrNW_004936497:8,410,882...8,765,678 JBrowse link
G D TCF4 transcription factor 4 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:28492532 NCBI chr 1:20,060,788...20,417,367
Ensembl chr 1:20,060,788...20,417,348
JBrowse link
G B TCF4 transcription factor 4 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:28492532 NCBI chr18:48,603,069...48,969,010
Ensembl chr18:51,938,357...52,352,030
JBrowse link
G C Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:28492532 NCBI chrNW_004955402:39,735,596...40,066,151
Ensembl chrNW_004955402:39,735,600...40,066,151
JBrowse link
G R Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:28492532 NCBI chr18:65,285,320...65,507,983
Ensembl chr18:65,155,685...65,507,977
JBrowse link
G M Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:28492532 NCBI chr18:69,343,429...69,687,967
Ensembl chr18:69,343,356...69,689,079
JBrowse link
G H TCF4 transcription factor 4 IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:28492532 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787
JBrowse link
G M Tenm2 teneurin transmembrane protein 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004624733:21,732,997...22,921,889 JBrowse link
G V TENM2 teneurin transmembrane protein 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr23:69,206,076...70,487,159 JBrowse link
G P TENM2 teneurin transmembrane protein 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr16:55,624,273...59,084,150
Ensembl chr16:55,625,298...56,915,287
JBrowse link
G S Tenm2 teneurin transmembrane protein 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004936622:1,101,587...1,983,816 JBrowse link
G D TENM2 teneurin transmembrane protein 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 4:43,450,278...44,962,993
Ensembl chr 4:43,451,059...44,377,371
JBrowse link
G B TENM2 teneurin transmembrane protein 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 5:162,346,710...163,627,371
Ensembl chr 5:169,420,480...170,392,581
JBrowse link
G C Tenm2 teneurin transmembrane protein 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004955408:20,150,223...21,340,276
Ensembl chrNW_004955408:20,437,067...21,338,897
JBrowse link
G R Tenm2 teneurin transmembrane protein 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:20,846,091...21,791,771
Ensembl chr10:20,844,899...21,265,026
JBrowse link
G M Tenm2 teneurin transmembrane protein 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr11:36,006,656...37,237,053
Ensembl chr11:36,006,656...37,235,964
JBrowse link
G H TENM2 teneurin transmembrane protein 2 IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 5:166,979,066...168,264,159
Ensembl chr 5:167,284,799...168,264,157
JBrowse link
G M Tent5a terminal nucleotidyltransferase 5A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004624799:12,829,562...12,836,850 JBrowse link
G V TENT5A terminal nucleotidyltransferase 5A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr13:6,392,131...6,399,456 JBrowse link
G P TENT5A terminal nucleotidyltransferase 5A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 1:84,545,033...84,552,138
Ensembl chr 1:84,545,201...84,552,135
JBrowse link
G S Tent5a terminal nucleotidyltransferase 5A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004936510:8,813,977...8,820,909 JBrowse link
G D TENT5A terminal nucleotidyltransferase 5A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr12:42,270,029...42,277,905
Ensembl chr12:42,274,000...42,277,513
JBrowse link
G B TENT5A terminal nucleotidyltransferase 5A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 6:79,636,412...79,643,444
Ensembl chr 6:82,901,079...82,908,072
JBrowse link
G C Tent5a terminal nucleotidyltransferase 5A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004955411:9,695,149...9,701,463
Ensembl chrNW_004955411:9,699,011...9,701,507
JBrowse link
G R Tent5a terminal nucleotidyltransferase 5A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 8:92,935,474...92,942,267
Ensembl chr 8:92,937,739...92,942,076
JBrowse link
G M Tent5a terminal nucleotidyltransferase 5A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 9:85,320,439...85,327,150
Ensembl chr 9:85,320,439...85,327,348
JBrowse link
G H TENT5A terminal nucleotidyltransferase 5A IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 6:81,745,730...81,752,681
Ensembl chr 6:81,491,439...81,752,774
JBrowse link
G M Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004624751:624,569...647,198 JBrowse link
G V TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468
JBrowse link
G P TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
JBrowse link
G S Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004936815:468,987...492,666 JBrowse link
G D TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
JBrowse link
G B TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 5:1,542,217...1,586,775
Ensembl chr 5:1,300,960...1,338,872
JBrowse link
G C Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589
JBrowse link
G R Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G M Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr13:73,626,911...73,649,843
Ensembl chr13:73,626,911...73,649,843
JBrowse link
G H TERT telomerase reverse transcriptase IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G M Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004624893:422,964...434,475 JBrowse link
G V WDR13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:45,721,318...45,729,152
Ensembl chr  X:45,721,406...45,733,103
JBrowse link
G P WDR13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:42,715,097...42,730,200
Ensembl chr  X:42,722,785...42,730,199
JBrowse link
G S Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004936721:566,529...594,203 JBrowse link
G D WDR13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:41,818,916...41,825,815
Ensembl chr  X:41,818,950...41,825,811
JBrowse link
G B WDR13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:40,895,793...40,907,183
Ensembl chr  X:48,757,416...48,765,111
JBrowse link
G C Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chrNW_004955543:182,279...190,435
Ensembl chrNW_004955543:182,279...190,435
JBrowse link
G R Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:15,112,663...15,123,825
Ensembl chr  X:15,113,878...15,122,146
JBrowse link
G M Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:8,123,301...8,132,858
Ensembl chr  X:8,123,301...8,132,892
JBrowse link
G H WDR13 WD repeat domain 13 IAGP ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:48,590,053...48,608,869
Ensembl chr  X:48,590,042...48,608,869
JBrowse link
esophageal atresia/tracheoesophageal fistula term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M Brca2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:8673090, PMID:9150172, PMID:9667259, PMID:9792861, PMID:11307153, PMID:15131399, PMID:15382066, PMID:16683254, PMID:17148771, PMID:19863560, PMID:20694749, PMID:21324516, PMID:23199084, PMID:23318356, PMID:23621881, PMID:24033266, PMID:25741868, PMID:26295337, PMID:26467025, PMID:28008555, PMID:28492532 NCBI chrNW_004624776:5,497,552...5,573,465 JBrowse link
G V BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:8673090, PMID:9150172, PMID:9667259, PMID:9792861, PMID:11307153, PMID:15131399, PMID:15382066, PMID:16683254, PMID:17148771, PMID:19863560, PMID:20694749, PMID:21324516, PMID:23199084, PMID:23318356, PMID:23621881, PMID:24033266, PMID:25741868, PMID:26295337, PMID:26467025, PMID:28008555, PMID:28492532 NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213
JBrowse link
G P BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:8673090, PMID:9150172, PMID:9667259, PMID:9792861, PMID:11307153, PMID:15131399, PMID:15382066, PMID:16683254, PMID:17148771, PMID:19863560, PMID:20694749, PMID:21324516, PMID:23199084, PMID:23318356, PMID:23621881, PMID:24033266, PMID:25741868, PMID:26295337, PMID:26467025, PMID:28008555, PMID:28492532 NCBI chr11:8,805,950...8,858,128 JBrowse link
G S Brca2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:8673090, PMID:9150172, PMID:9667259, PMID:9792861, PMID:11307153, PMID:15131399, PMID:15382066, PMID:16683254, PMID:17148771, PMID:19863560, PMID:20694749, PMID:21324516, PMID:23199084, PMID:23318356, PMID:23621881, PMID:24033266, PMID:25741868, PMID:26295337, PMID:26467025, PMID:28008555, PMID:28492532 NCBI chrNW_004936472:26,945,659...27,017,693 JBrowse link
G D BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:8673090, PMID:9150172, PMID:9667259, PMID:9792861, PMID:11307153, PMID:15131399, PMID:15382066, PMID:16683254, PMID:17148771, PMID:19863560, PMID:20694749, PMID:21324516, PMID:23199084, PMID:23318356, PMID:23621881, PMID:24033266, PMID:25741868, PMID:26295337, PMID:26467025, PMID:28008555, PMID:28492532 NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815
JBrowse link
G B BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:8673090, PMID:9150172, PMID:9667259, PMID:9792861, PMID:11307153, PMID:15131399, PMID:15382066, PMID:16683254, PMID:17148771, PMID:19863560, PMID:20694749, PMID:21324516, PMID:23199084, PMID:23318356, PMID:23621881, PMID:24033266, PMID:25741868, PMID:26295337, PMID:26467025, PMID:28008555, PMID:28492532 NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
JBrowse link
G C Brca2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:8673090, PMID:9150172, PMID:9667259, PMID:9792861, PMID:11307153, PMID:15131399, PMID:15382066, PMID:16683254, PMID:17148771, PMID:19863560, PMID:20694749, PMID:21324516, PMID:23199084, PMID:23318356, PMID:23621881, PMID:24033266, PMID:25741868, PMID:26295337, PMID:26467025, PMID:28008555, PMID:28492532 NCBI chrNW_004955431:13,449,287...13,526,878
Ensembl chrNW_004955431:13,449,543...13,527,432
JBrowse link
G R Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:8673090, PMID:9150172, PMID:9667259, PMID:9792861, PMID:11307153, PMID:15131399, PMID:15382066, PMID:16683254, PMID:17148771, PMID:19863560, PMID:20694749, PMID:21324516, PMID:23199084, PMID:23318356, PMID:23621881, PMID:24033266, PMID:25741868, PMID:26295337, PMID:26467025, PMID:28008555, PMID:28492532 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G M Brca2 breast cancer 2, early onset ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:8673090, PMID:9150172, PMID:9667259, PMID:9792861, PMID:11307153, PMID:15131399, PMID:15382066, PMID:16683254, PMID:17148771, PMID:19863560, PMID:20694749, PMID:21324516, PMID:23199084, PMID:23318356, PMID:23621881, PMID:24033266, PMID:25741868, PMID:26295337, PMID:26467025, PMID:28008555, PMID:28492532 NCBI chr 5:150,522,297...150,570,147
Ensembl chr 5:150,522,630...150,570,329
JBrowse link
G H BRCA2 BRCA2 DNA repair associated IAGP ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:8673090, PMID:9150172, PMID:9667259, PMID:9792861, PMID:11307153, PMID:15131399, PMID:15382066, PMID:16683254, PMID:17148771, PMID:19863560, PMID:20694749, PMID:21324516, PMID:23199084, PMID:23318356, PMID:23621881, PMID:24033266, PMID:25741868, PMID:26295337, PMID:26467025, PMID:28008555, PMID:28492532 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G M Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:16116421, PMID:16116423, PMID:16116424, PMID:16153896, PMID:17033622, PMID:19127258, PMID:19763819, PMID:20177395, PMID:20639400, PMID:21165771, PMID:21345144, PMID:21964575, PMID:22006311, PMID:24240112, PMID:24556621, PMID:25741868, PMID:25980754, PMID:26315354, PMID:26467025, PMID:26681312, PMID:26822949, PMID:26845104, PMID:26921362, PMID:26968956, PMID:27179029, PMID:28492532, PMID:29368626 NCBI chrNW_004624871:2,051,044...2,195,364 JBrowse link
G V BRIP1 BRCA1 interacting protein C-terminal helicase 1 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:16116421, PMID:16116423, PMID:16116424, PMID:16153896, PMID:17033622, PMID:19127258, PMID:19763819, PMID:20177395, PMID:20639400, PMID:21165771, PMID:21345144, PMID:21964575, PMID:22006311, PMID:24240112, PMID:24556621, PMID:25741868, PMID:25980754, PMID:26315354, PMID:26467025, PMID:26681312, PMID:26822949, PMID:26845104, PMID:26921362, PMID:26968956, PMID:27179029, PMID:28492532, PMID:29368626 NCBI chr16:32,909,226...33,085,551
Ensembl chr16:32,910,693...33,082,587
JBrowse link
G P BRIP1 BRCA1 interacting protein C-terminal helicase 1 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:16116421, PMID:16116423, PMID:16116424, PMID:16153896, PMID:17033622, PMID:19127258, PMID:19763819, PMID:20177395, PMID:20639400, PMID:21165771, PMID:21345144, PMID:21964575, PMID:22006311, PMID:24240112, PMID:24556621, PMID:25741868, PMID:25980754, PMID:26315354, PMID:26467025, PMID:26681312, PMID:26822949, PMID:26845104, PMID:26921362, PMID:26968956, PMID:27179029, PMID:28492532, PMID:29368626 NCBI chr12:36,498,138...36,639,847
Ensembl chr12:36,443,697...36,634,088
JBrowse link
G S Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:16116421, PMID:16116423, PMID:16116424, PMID:16153896, PMID:17033622, PMID:19127258, PMID:19763819, PMID:20177395, PMID:20639400, PMID:21165771, PMID:21345144, PMID:21964575, PMID:22006311, PMID:24240112, PMID:24556621, PMID:25741868, PMID:25980754, PMID:26315354, PMID:26467025, PMID:26681312, PMID:26822949, PMID:26845104, PMID:26921362, PMID:26968956, PMID:27179029, PMID:28492532, PMID:29368626 NCBI chrNW_004936490:3,001,445...3,139,538 JBrowse link
G D BRIP1 BRCA1 interacting protein C-terminal helicase 1 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:16116421, PMID:16116423, PMID:16116424, PMID:16153896, PMID:17033622, PMID:19127258, PMID:19763819, PMID:20177395, PMID:20639400, PMID:21165771, PMID:21345144, PMID:21964575, PMID:22006311, PMID:24240112, PMID:24556621, PMID:25741868, PMID:25980754, PMID:26315354, PMID:26467025, PMID:26681312, PMID:26822949, PMID:26845104, PMID:26921362, PMID:26968956, PMID:27179029, PMID:28492532, PMID:29368626 NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788
JBrowse link
G B BRIP1 BRCA1 interacting protein C-terminal helicase 1 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:16116421, PMID:16116423, PMID:16116424, PMID:16153896, PMID:17033622, PMID:19127258, PMID:19763819, PMID:20177395, PMID:20639400, PMID:21165771, PMID:21345144, PMID:21964575, PMID:22006311, PMID:24240112, PMID:24556621, PMID:25741868, PMID:25980754, PMID:26315354, PMID:26467025, PMID:26681312, PMID:26822949, PMID:26845104, PMID:26921362, PMID:26968956, PMID:27179029, PMID:28492532, PMID:29368626 NCBI chr17:55,786,568...55,973,366
Ensembl chr17:60,901,073...61,083,462
JBrowse link
G C Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:16116421, PMID:16116423, PMID:16116424, PMID:16153896, PMID:17033622, PMID:19127258, PMID:19763819, PMID:20177395, PMID:20639400, PMID:21165771, PMID:21345144, PMID:21964575, PMID:22006311, PMID:24240112, PMID:24556621, PMID:25741868, PMID:25980754, PMID:26315354, PMID:26467025, PMID:26681312, PMID:26822949, PMID:26845104, PMID:26921362, PMID:26968956, PMID:27179029, PMID:28492532, PMID:29368626 NCBI chrNW_004955451:2,705,834...2,820,610
Ensembl chrNW_004955451:2,707,793...2,818,592
JBrowse link
G R Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:16116421, PMID:16116423, PMID:16116424, PMID:16153896, PMID:17033622, PMID:19127258, PMID:19763819, PMID:20177395, PMID:20639400, PMID:21165771, PMID:21345144, PMID:21964575, PMID:22006311, PMID:24240112, PMID:24556621, PMID:25741868, PMID:25980754, PMID:26315354, PMID:26467025, PMID:26681312, PMID:26822949, PMID:26845104, PMID:26921362, PMID:26968956, PMID:27179029, PMID:28492532, PMID:29368626 NCBI chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581
JBrowse link
G M Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:16116421, PMID:16116423, PMID:16116424, PMID:16153896, PMID:17033622, PMID:19127258, PMID:19763819, PMID:20177395, PMID:20639400, PMID:21165771, PMID:21345144, PMID:21964575, PMID:22006311, PMID:24240112, PMID:24556621, PMID:25741868, PMID:25980754, PMID:26315354, PMID:26467025, PMID:26681312, PMID:26822949, PMID:26845104, PMID:26921362, PMID:26968956, PMID:27179029, PMID:28492532, PMID:29368626 NCBI chr11:86,058,136...86,201,215
Ensembl chr11:86,058,138...86,201,193
JBrowse link
G H BRIP1 BRCA1 interacting protein C-terminal helicase 1 IAGP ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:16116421, PMID:16116423, PMID:16116424, PMID:16153896, PMID:17033622, PMID:19127258, PMID:19763819, PMID:20177395, PMID:20639400, PMID:21165771, PMID:21345144, PMID:21964575, PMID:22006311, PMID:24240112, PMID:24556621, PMID:25741868, PMID:25980754, PMID:26315354, PMID:26467025, PMID:26681312, PMID:26822949, PMID:26845104, PMID:26921362, PMID:26968956, PMID:27179029, PMID:28492532, PMID:29368626 NCBI chr17:61,679,139...61,864,120
Ensembl chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,528
JBrowse link
G M Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chrNW_004624744:31,103,053...31,302,314 JBrowse link
G V CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chr 8:56,654,939...56,782,803
Ensembl chr 8:56,657,826...56,785,804
JBrowse link
G P CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,571,874...72,754,432
JBrowse link
G S Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chrNW_004936496:12,381,225...12,505,121 JBrowse link
G D CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chr29:11,115,865...11,284,713
Ensembl chr29:11,156,340...11,283,627
JBrowse link
G B CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chr 8:57,091,002...57,282,471
Ensembl chr 8:58,816,840...58,945,186
JBrowse link
G C Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chrNW_004955444:17,859,999...18,067,623
Ensembl chrNW_004955444:17,858,771...18,067,248
JBrowse link
G R Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G M Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chr 4:8,690,402...8,868,449
Ensembl chr 4:8,690,406...8,867,659
JBrowse link
G H CHD7 chromodomain helicase DNA binding protein 7 IAGP ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
G M Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004624795:6,167,504...6,183,208 JBrowse link
G V COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:25741868, PMID:30311386 NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930
JBrowse link
G P COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:25741868, PMID:30311386 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G S Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004936490:11,448,552...11,465,836 JBrowse link
G D COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:25741868, PMID:30311386 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G B COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:25741868, PMID:30311386 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G C Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073
JBrowse link
G R Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G M Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:25741868, PMID:30311386 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G H COL1A1 collagen type I alpha 1 chain IAGP ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:25741868, PMID:30311386 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G M Gli2 GLI family zinc finger 2 ISO RGD PMID:12947339 RGD:12801415 NCBI chrNW_004624732:24,159,407...24,381,495 JBrowse link
G V GLI2 GLI family zinc finger 2 ISO RGD PMID:12947339 RGD:12801415 NCBI chr10:9,302,890...9,561,287
Ensembl chr10:9,304,645...9,369,115
JBrowse link
G P GLI2 GLI family zinc finger 2 ISO RGD PMID:12947339 RGD:12801415 NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306
JBrowse link
G S Gli2 GLI family zinc finger 2 ISO RGD PMID:12947339 RGD:12801415 NCBI chrNW_004936469:49,616,552...49,788,760 JBrowse link
G D GLI2 GLI family zinc finger 2 ISO RGD PMID:12947339 RGD:12801415 NCBI chr19:29,128,401...29,383,324
Ensembl chr19:29,130,227...29,383,658
JBrowse link
G B GLI2 GLI family zinc finger 2 ISO RGD PMID:12947339 RGD:12801415 NCBI chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442
JBrowse link
G C Gli2 GLI family zinc finger 2 ISO RGD PMID:12947339 RGD:12801415 NCBI chrNW_004955459:8,892,917...9,124,672
Ensembl chrNW_004955459:8,892,869...9,118,499
JBrowse link
G R Gli2 GLI family zinc finger 2 IEP RGD PMID:12947339 RGD:12801415 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
G M Gli2 GLI-Kruppel family member GLI2 ISO RGD PMID:12947339 RGD:12801415 NCBI chr 1:118,834,061...119,054,405
Ensembl chr 1:118,834,132...119,053,619
JBrowse link
G H GLI2 GLI family zinc finger 2 ISO RGD PMID:12947339 RGD:12801415 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G M Nog noggin ISO RGD PMID:17260385 RGD:12801454 NCBI chrNW_004624795:11,696,102...11,697,367 JBrowse link
G V NOG noggin ISO RGD PMID:17260385 RGD:12801454 NCBI chr16:36,816,783...36,818,693
Ensembl chr16:36,817,476...36,818,174
JBrowse link
G P NOG noggin ISO RGD PMID:17260385 RGD:12801454 NCBI chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206
JBrowse link
G S Nog noggin ISO RGD PMID:17260385 RGD:12801454 NCBI chrNW_004936490:6,262,651...6,264,069 JBrowse link
G D NOG noggin ISO RGD PMID:17260385 RGD:12801454 NCBI chr 9:31,453,604...31,456,060 JBrowse link
G B NOG noggin ISO RGD PMID:17260385 RGD:12801454 NCBI chr17:50,669,186...50,671,081
Ensembl chr17:55,532,394...55,533,092
JBrowse link
G C Nog noggin ISO RGD PMID:17260385 RGD:12801454 NCBI chrNW_004955451:6,192,368...6,193,766
Ensembl chrNW_004955451:6,193,042...6,193,740
JBrowse link
G R Nog noggin ISO
ISS
OMIM:189960 MouseDO PMID:17260385 RGD:12801454 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link
G M Nog noggin IMP
IEA
OMIM:189960 MouseDO PMID:17260385 RGD:12801454 NCBI chr11:89,300,638...89,302,559
Ensembl chr11:89,300,638...89,302,332
JBrowse link
G H NOG noggin ISO
ISS
OMIM:189960 MouseDO PMID:17260385 RGD:12801454 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G M Shh sonic hedgehog signaling molecule ISO RGD PMID:25003913 RGD:12801416 NCBI chrNW_004624800:2,202,986...2,215,309 JBrowse link
G V SHH sonic hedgehog signaling molecule ISO RGD PMID:25003913 RGD:12801416 NCBI chr21:123,929,937...123,942,451
Ensembl chr21:123,932,900...123,942,395
JBrowse link
G P SHH sonic hedgehog signaling molecule ISO RGD PMID:25003913 RGD:12801416 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,718...2,555,484
JBrowse link
G S Shh sonic hedgehog signaling molecule ISO RGD PMID:25003913 RGD:12801416 NCBI chrNW_004936527:10,033,095...10,042,713 JBrowse link
G D SHH sonic hedgehog signaling molecule ISO RGD PMID:25003913 RGD:12801416 NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903
JBrowse link
G B SHH sonic hedgehog signaling molecule ISO RGD PMID:25003913 RGD:12801416 NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651
JBrowse link
G C Shh sonic hedgehog signaling molecule ISO RGD PMID:25003913 RGD:12801416 NCBI chrNW_004955491:8,647,133...8,657,381 JBrowse link
G R Shh sonic hedgehog signaling molecule IEP RGD PMID:25003913 RGD:12801416 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G M Shh sonic hedgehog ISO RGD PMID:25003913 RGD:12801416 NCBI chr 5:28,456,840...28,467,101
Ensembl chr 5:28,456,815...28,467,256
JBrowse link
G H SHH sonic hedgehog signaling molecule ISO RGD PMID:25003913 RGD:12801416 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
syndromic microphthalmia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M Six6 SIX homeobox 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia
CTD
ClinVar
PMID:25741868, PMID:28492532 NCBI chrNW_004624734:40,620,782...40,623,165 JBrowse link
G V SIX6 SIX homeobox 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia
CTD
ClinVar
PMID:25741868, PMID:28492532 NCBI chr24:37,700,468...37,703,103
Ensembl chr24:37,700,513...37,705,814
JBrowse link
G P SIX6 SIX homeobox 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia
CTD
ClinVar
PMID:25741868, PMID:28492532 NCBI chr 1:189,497,807...189,503,189
Ensembl chr 1:189,497,815...189,503,500
JBrowse link
G S Six6 SIX homeobox 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia
CTD
ClinVar
PMID:25741868, PMID:28492532 NCBI chrNW_004936495:4,716,359...4,719,162 JBrowse link
G D SIX6 SIX homeobox 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia
CTD
ClinVar
PMID:25741868, PMID:28492532 NCBI chr 8:35,565,838...35,568,423
Ensembl chr 8:35,566,018...35,567,838
JBrowse link
G B SIX6 SIX homeobox 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia
CTD
ClinVar
PMID:25741868, PMID:28492532 NCBI chr14:41,113,282...41,117,018
Ensembl chr14:59,376,109...59,378,691
JBrowse link
G C Six6 SIX homeobox 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia
CTD
ClinVar
PMID:25741868, PMID:28492532 NCBI chrNW_004955466:9,120,227...9,122,109
Ensembl chrNW_004955466:9,120,227...9,122,109
JBrowse link
G R Six6 SIX homeobox 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia
CTD
ClinVar
PMID:25741868, PMID:28492532 NCBI chr 6:95,816,749...95,821,729
Ensembl chr 6:95,816,749...95,821,729
JBrowse link
G M Six6 sine oculis-related homeobox 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia
CTD
ClinVar
PMID:25741868, PMID:28492532 NCBI chr12:72,939,882...72,944,899
Ensembl chr12:72,939,892...72,944,899
JBrowse link
G H SIX6 SIX homeobox 6 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia
CTD
ClinVar
PMID:25741868, PMID:28492532 NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850
JBrowse link
G M Sox2 SRY-box transcription factor 2 ISO OMIM NCBI chrNW_004624730:59,570,879...59,573,001 JBrowse link
G V SOX2 SRY-box transcription factor 2 ISO OMIM NCBI chr15:7,673,581...7,676,812
Ensembl chr15:7,674,867...7,675,826
JBrowse link
G P SOX2 SRY-box transcription factor 2 ISO OMIM NCBI chr13:119,668,476...119,669,435 JBrowse link
G S Sox2 SRY-box transcription factor 2 ISO OMIM NCBI chrNW_004936566:1,630,698...1,632,607 JBrowse link
G D SOX2 SRY-box transcription factor 2 ISO OMIM NCBI chr34:14,853,000...14,855,153 JBrowse link
G B SOX2 SRY-box transcription factor 2 ISO OMIM NCBI chr 3:178,744,881...178,747,392
Ensembl chr 3:186,922,705...186,923,662
JBrowse link
G C Sox2 SRY-box transcription factor 2 ISO OMIM NCBI chrNW_004955420:10,671,888...10,674,080
Ensembl chrNW_004955420:10,671,978...10,672,934
JBrowse link
G R Sox2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar Annotator: match by term: Microphthalmia syndromic 3
ClinVar Annotator: match by OMIM:206900
OMIM
ClinVar
PMID:12002146, PMID:12612584, PMID:15346919, PMID:15389708, PMID:15812812, PMID:16145681, PMID:16283891, PMID:16470798, PMID:16543359, PMID:16892407, PMID:16932809, PMID:17219395, PMID:17522144, PMID:18285410, PMID:18385377, PMID:18831064, PMID:19254784, PMID:19921648, PMID:20803647, PMID:21326281, PMID:22171155, PMID:23701296, PMID:24804704, PMID:25542770, PMID:25741868, PMID:26250054, PMID:27206652, PMID:28492532 NCBI chr 2:121,165,137...121,167,545
Ensembl chr 2:121,165,137...121,167,545
JBrowse link
G M Sox2 SRY (sex determining region Y)-box 2 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar Annotator: match by term: Microphthalmia syndromic 3
ClinVar Annotator: match by OMIM:206900
OMIM
ClinVar
PMID:12002146, PMID:12612584, PMID:15346919, PMID:15389708, PMID:15812812, PMID:16145681, PMID:16283891, PMID:16470798, PMID:16543359, PMID:16892407, PMID:16932809, PMID:17219395, PMID:17522144, PMID:18285410, PMID:18385377, PMID:18831064, PMID:19254784, PMID:19921648, PMID:20803647, PMID:21326281, PMID:22171155, PMID:23701296, PMID:24804704, PMID:25542770, PMID:25741868, PMID:26250054, PMID:27206652, PMID:28492532 NCBI chr 3:34,649,995...34,652,461
Ensembl chr 3:34,650,405...34,652,461
JBrowse link
G H SOX2 SRY-box transcription factor 2 IAGP ClinVar Annotator: match by term: Microphthalmia syndromic 3
ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar
OMIM
PMID:12002146, PMID:12612584, PMID:15346919, PMID:15389708, PMID:15812812, PMID:16145681, PMID:16283891, PMID:16470798, PMID:16543359, PMID:16892407, PMID:16932809, PMID:17219395, PMID:17522144, PMID:18285410, PMID:18385377, PMID:18831064, PMID:19254784, PMID:19921648, PMID:20803647, PMID:21326281, PMID:22171155, PMID:23701296, PMID:24804704, PMID:25542770, PMID:25741868, PMID:26250054, PMID:27206652, PMID:28492532 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
JBrowse link
G H SOX2-OT SOX2 overlapping transcript IAGP ClinVar Annotator: match by term: Microphthalmia syndromic 3
ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar PMID:12612584, PMID:15346919, PMID:15812812, PMID:16145681, PMID:16470798, PMID:16543359, PMID:16932809, PMID:17522144, PMID:18285410, PMID:18385377, PMID:19254784, PMID:19921648, PMID:20803647, PMID:21326281, PMID:22171155, PMID:23701296, PMID:24804704, PMID:25542770, PMID:25741868, PMID:26250054, PMID:27206652, PMID:28492532 NCBI chr 3:181,056,680...181,742,228
Ensembl chr 3:180,989,762...181,836,880
JBrowse link
G M Sox2-srr2 Sox2 SRR2 enhancer ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:17522144, PMID:23701296, PMID:24804704, PMID:28492532 NCBI chr 3:34,653,715...34,654,096 JBrowse link
G H SOX2-SRR2 SRR2 enhancer downstream of SOX2 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:17522144, PMID:23701296, PMID:24804704, PMID:28492532 NCBI chr 3:181,716,057...181,716,248 JBrowse link
G M Sox2ot SOX2 overlapping transcript (non-protein coding) ISO ClinVar Annotator: match by term: Microphthalmia syndromic 3
ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar PMID:12612584, PMID:15346919, PMID:15812812, PMID:16145681, PMID:16470798, PMID:16543359, PMID:16932809, PMID:17522144, PMID:18285410, PMID:18385377, PMID:19254784, PMID:19921648, PMID:20803647, PMID:21326281, PMID:22171155, PMID:23701296, PMID:24804704, PMID:25542770, PMID:25741868, PMID:26250054, PMID:27206652, PMID:28492532 NCBI chr 3:34,560,381...34,677,993
Ensembl chr 3:34,104,270...34,682,619
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 110220
    disease of anatomical entity 105163
      gastrointestinal system disease 33190
        Digestive System Abnormalities 3036
          esophageal atresia 319
            Arroyo Garcia Cimadevilla Syndrome 0
            esophageal atresia/tracheoesophageal fistula 56
            syndromic microphthalmia 3 20
Path 2
Term Annotations click to browse term
  disease 110220
    disease of anatomical entity 105163
      gastrointestinal system disease 33190
        Gastrointestinal Diseases 19240
          esophageal disease 2745
            esophageal atresia 319
              Arroyo Garcia Cimadevilla Syndrome 0
              esophageal atresia/tracheoesophageal fistula 56
              syndromic microphthalmia 3 20
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.