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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:hiatus hernia
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Accession:DOID:12642 term browser browse the term
Definition:STOMACH herniation located at or near the diaphragmatic opening for the ESOPHAGUS, the esophageal hiatus.
Synonyms:exact_synonym: Hiatal Hernias;   Hiatus Hernias;   Paraesophageal Hernia;   Paraesophageal Hernias;   Paraesophageal Hiatal Hernia;   Paraesophageal Hiatal Hernias;   Sliding Esophageal Hernia;   Sliding Esophageal Hernias;   diaphragmatic - hiatus -hernia;   esophageal hernia;   esophageal hernias;   hiatal hernia;   sliding hiatal hernia;   sliding hiatal hernias
 primary_id: MESH:D006551
 alt_id: OMIM:142400
 xref: ICD10CM:K44;   NCI:C98945
For additional species annotation, visit the Alliance of Genome Resources.

Please select species to view GViewer data.

show annotations for term's descendants           Sort by:
hiatus hernia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Barx1 BARX homeobox 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004624868:2,679,590...2,683,155
Ensembl chrNW_004624868:2,679,590...2,683,079 		JBrowse link
G G BARX1 BARX homeobox 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr12:104,299,516...104,307,613
Ensembl chr12:104,303,265...104,306,251 		JBrowse link
G P BARX1 BARX homeobox 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 3:43,284,609...43,288,269
Ensembl chr 3:43,284,464...43,288,281 		JBrowse link
G S Barx1 BARX homeobox 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004937000:88,529...96,794
Ensembl chrNW_004937000:88,529...92,147 		JBrowse link
G D BARX1 BARX homeobox 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 1:98,036,444...98,039,818
Ensembl chr 1:98,036,227...98,039,845 		JBrowse link
G B BARX1 BARX homeobox 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:65,071,990...65,151,152 JBrowse link
G C Barx1 BARX homeobox 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004955515:4,230,713...4,234,189
Ensembl chrNW_004955515:4,229,783...4,234,191 		JBrowse link
G R Barx1 BARX homeobox 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:15,990,412...15,993,887
Ensembl chr17:15,990,412...15,993,887 		JBrowse link
G M Barx1 BarH-like homeobox 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr13:48,816,512...48,819,983
Ensembl chr13:48,816,474...48,819,983 		JBrowse link
G H BARX1 BARX homeobox 1 IAGP ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:93,951,627...93,955,355
Ensembl chr 9:93,951,627...93,955,355 		JBrowse link
G N Fam120a family with sequence similarity 120 member A ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004624868:2,996,907...3,103,289
Ensembl chrNW_004624868:2,996,903...3,103,279 		JBrowse link
G P FAM120A family with sequence similarity 120 member A ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 3:42,861,594...42,974,874
Ensembl chr 3:42,861,410...42,974,866 		JBrowse link
G S Fam120a family with sequence similarity 120 member A ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004936487:2,748,726...2,850,089
Ensembl chrNW_004936487:2,748,720...2,850,283 		JBrowse link
G D FAM120A family with sequence similarity 120 member A ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 1:98,264,680...98,336,761
Ensembl chr 1:98,265,855...98,353,296 		JBrowse link
G B FAM120A family with sequence similarity 120 member A ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:64,575,501...64,689,649 JBrowse link
G C Fam120a family with sequence similarity 120 member A ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004955515:4,531,586...4,628,646
Ensembl chrNW_004955515:4,531,586...4,629,569 		JBrowse link
G R Fam120a family with sequence similarity 120 member A ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:15,684,233...15,774,964
Ensembl chr17:15,684,233...15,774,964 		JBrowse link
G M Fam120a family with sequence similarity 120, member A ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr13:49,032,692...49,121,754
Ensembl chr13:49,032,695...49,121,493 		JBrowse link
G H FAM120A family with sequence similarity 120 member A IAGP ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:93,451,685...93,566,112
Ensembl chr 9:93,451,685...93,566,112 		JBrowse link
G G FAM120AOS family with sequence similarity 120 member A opposite strand ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr12:103,824,509...103,829,340 JBrowse link
G B FAM120AOS family with sequence similarity 120 member A opposite strand ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:64,566,352...64,575,430
Ensembl chr 9:92,633,662...92,640,636 		JBrowse link
G H FAM120AOS family with sequence similarity 120 member A opposite strand IAGP ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:93,443,332...93,453,601
Ensembl chr 9:93,431,441...93,453,581 		JBrowse link
G N Fbp1 fructose-bisphosphatase 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004624753:16,019,546...16,048,096
Ensembl chrNW_004624753:16,016,022...16,048,104 		JBrowse link
G G FBP1 fructose-bisphosphatase 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr12:108,452,856...108,484,052
Ensembl chr12:108,453,156...108,483,775 		JBrowse link
G P FBP1 fructose-bisphosphatase 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr10:27,588,609...27,622,225
Ensembl chr10:27,588,570...27,622,674 		JBrowse link
G S Fbp1 fructose-bisphosphatase 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004936626:3,555,835...3,581,651
Ensembl chrNW_004936626:3,555,762...3,581,659 		JBrowse link
G D FBP1 fructose-bisphosphatase 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 1:72,099,886...72,125,266
Ensembl chr 1:72,099,881...72,125,224 		JBrowse link
G B FBP1 fructose-bisphosphatase 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:65,695,082...65,731,628
Ensembl chr 9:93,825,150...93,860,968 		JBrowse link
G C Fbp1 fructose-bisphosphatase 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004955422:21,537,337...21,569,174
Ensembl chrNW_004955422:21,536,667...21,569,433 		JBrowse link
G R Fbp1 fructose-bisphosphatase 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071 		JBrowse link
G M Fbp1 fructose bisphosphatase 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr13:63,012,567...63,036,112
Ensembl chr13:63,012,567...63,036,096 		JBrowse link
G H FBP1 fructose-bisphosphatase 1 IAGP ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:94,603,133...94,640,263
Ensembl chr 9:94,603,133...94,640,249 		JBrowse link
G N Fbp2 fructose-bisphosphatase 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004624753:15,981,008...16,010,389
Ensembl chrNW_004624753:15,980,116...16,010,489 		JBrowse link
G G FBP2 fructose-bisphosphatase 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr12:108,486,830...108,527,443
Ensembl chr12:108,493,645...108,527,219 		JBrowse link
G P FBP2 fructose-bisphosphatase 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr10:27,631,833...27,661,704
Ensembl chr10:27,631,496...27,665,246 		JBrowse link
G S Fbp2 fructose-bisphosphatase 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004936626:3,521,953...3,548,206
Ensembl chrNW_004936626:3,521,953...3,548,195 		JBrowse link
G D FBP2 fructose-bisphosphatase 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 1:72,136,072...72,168,487
Ensembl chr 1:72,136,106...72,184,795 		JBrowse link
G B FBP2 fructose-bisphosphatase 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:65,650,460...65,685,794
Ensembl chr 9:93,780,956...93,815,872 		JBrowse link
G C Fbp2 fructose-bisphosphatase 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004955422:21,508,906...21,530,296
Ensembl chrNW_004955422:21,505,857...21,530,302 		JBrowse link
G R Fbp2 fructose-bisphosphatase 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:2,236,088...2,253,702
Ensembl chr17:2,236,336...2,253,698 		JBrowse link
G M Fbp2 fructose bisphosphatase 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr13:62,984,698...63,006,214
Ensembl chr13:62,984,691...63,006,236 		JBrowse link
G H FBP2 fructose-bisphosphatase 2 IAGP ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:94,558,720...94,593,824
Ensembl chr 9:94,558,720...94,593,824 		JBrowse link
G G LOC103219772 constitutive coactivator of PPAR-gamma-like protein 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr12:103,829,452...103,945,026
Ensembl chr12:103,829,680...103,945,419 		JBrowse link
G N Mfsd14b major facilitator superfamily domain containing 14B ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004624819:252,407...339,380 JBrowse link
G G MFSD14B major facilitator superfamily domain containing 14B ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr12:104,699,920...104,777,035
Ensembl chr12:104,700,138...104,777,228 		JBrowse link
G P MFSD14B major facilitator superfamily domain containing 14B ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr10:38,835,365...38,889,403
Ensembl chr10:38,834,125...38,889,457 		JBrowse link
G S Mfsd14b major facilitator superfamily domain containing 14B ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004936487:1,710,576...1,804,372
Ensembl chrNW_004936487:1,785,419...1,803,633 		JBrowse link
G D MFSD14B major facilitator superfamily domain containing 14B ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 1:99,201,206...99,271,351
Ensembl chr 1:99,203,170...99,271,067 		JBrowse link
G B MFSD14B major facilitator superfamily domain containing 14B ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:65,531,739...65,554,432
Ensembl chr 9:93,661,986...93,684,591 		JBrowse link
G C Mfsd14b major facilitator superfamily domain containing 14B ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004955422:24,000,123...24,061,998
Ensembl chrNW_004955422:23,999,269...24,035,045 		JBrowse link
G R Mfsd14b major facilitator superfamily domain containing 14B ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:77,895...130,837
Ensembl chr17:77,840...130,839 		JBrowse link
G M Mfsd14b major facilitator superfamily domain containing 14B ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr13:65,212,843...65,260,813
Ensembl chr13:65,212,477...65,260,789 		JBrowse link
G H MFSD14B major facilitator superfamily domain containing 14B IAGP ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:94,374,417...94,461,042
Ensembl chr 9:94,374,569...94,461,042 		JBrowse link
G M Mirlet7a-1 microRNA let7a-1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr13:48,691,655...48,691,748
Ensembl chr13:48,691,655...48,691,748 		JBrowse link
G P MIRLET7A-2 microRNA let-7a-2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 3:43,465,667...43,465,758
Ensembl chr 3:43,465,667...43,465,758 		JBrowse link
G R Mirlet7a1 microRNA let-7a-1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:16,113,766...16,113,859
Ensembl chr17:16,113,768...16,113,867 		JBrowse link
G H MIRLET7A1 microRNA let-7a-1 IAGP ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:94,175,957...94,176,036
Ensembl chr 9:94,175,957...94,176,036 		JBrowse link
G P MIRLET7D microRNA let-7d ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 3:43,468,501...43,468,596
Ensembl chr 3:43,468,501...43,468,596 		JBrowse link
G D MIRLET7D microRNA let-7d ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 1:97,902,012...97,902,136
Ensembl chr 1:97,902,012...97,902,136 		JBrowse link
G R Mirlet7d microRNA let-7d ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:16,115,893...16,115,990
Ensembl chr17:16,115,893...16,115,990 		JBrowse link
G M Mirlet7d microRNA let7d ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr13:48,689,488...48,689,590
Ensembl chr13:48,689,488...48,689,590 		JBrowse link
G H MIRLET7D microRNA let-7d IAGP ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:94,178,834...94,178,920
Ensembl chr 9:94,178,834...94,178,920 		JBrowse link
G D MIRLET7F microRNA let-7f ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 1:97,903,931...97,904,008
Ensembl chr 1:97,903,919...97,904,028 		JBrowse link
G R Mirlet7f-1 microRNA let7f-1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:16,114,130...16,114,226
Ensembl chr17:16,114,130...16,114,226 		JBrowse link
G M Mirlet7f-1 microRNA let7f-1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr13:48,691,305...48,691,393
Ensembl chr13:48,691,305...48,691,393 		JBrowse link
G P MIRLET7F-2 microRNA let-7f-2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 3:43,466,034...43,466,130
Ensembl chr 3:43,466,027...43,466,133 		JBrowse link
G H MIRLET7F1 microRNA let-7f-1 IAGP ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:94,176,347...94,176,433
Ensembl chr 9:94,176,347...94,176,433 		JBrowse link
G G NUTM2F NUT family member 2F ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr12:104,645,448...104,653,160 JBrowse link
G S Nutm2f NUT family member 2F ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar
G H NUTM2F NUT family member 2F IAGP ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:94,318,198...94,328,644
Ensembl chr 9:94,318,198...94,328,644 		JBrowse link
G N Phf2 PHD finger protein 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004624868:2,890,730...2,992,788
Ensembl chrNW_004624868:2,890,612...2,975,988 		JBrowse link
G G PHF2 PHD finger protein 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr12:103,959,502...104,055,711
Ensembl chr12:104,007,498...104,055,711 		JBrowse link
G P PHF2 PHD finger protein 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 3:42,988,607...43,078,811
Ensembl chr 3:42,988,636...43,078,808 		JBrowse link
G S Phf2 PHD finger protein 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004936487:2,912,114...2,956,429
Ensembl chrNW_004936487:2,912,112...2,954,525 		JBrowse link
G D PHF2 PHD finger protein 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 1:98,188,014...98,253,930
Ensembl chr 1:98,188,826...98,254,411 		JBrowse link
G B PHF2 PHD finger protein 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:64,700,151...64,803,737
Ensembl chr 9:92,815,392...92,863,817 		JBrowse link
G C Phf2 PHD finger protein 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004955515:4,428,068...4,471,642
Ensembl chrNW_004955515:4,429,957...4,471,641 		JBrowse link
G R Phf2 PHD finger protein 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:15,783,221...15,851,209
Ensembl chr17:15,781,864...15,851,208 		JBrowse link
G M Phf2 PHD finger protein 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr13:48,955,226...49,024,361
Ensembl chr13:48,955,226...49,024,595 		JBrowse link
G H PHF2 PHD finger protein 2 IAGP ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:93,576,584...93,679,587
Ensembl chr 9:93,576,584...93,679,587 		JBrowse link
G N Ptpdc1 protein tyrosine phosphatase domain containing 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004624868:2,414,320...2,517,703
Ensembl chrNW_004624868:2,414,265...2,487,620 		JBrowse link
G G PTPDC1 protein tyrosine phosphatase domain containing 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr12:104,365,169...104,499,156
Ensembl chr12:104,365,419...104,446,306 		JBrowse link
G P PTPDC1 protein tyrosine phosphatase domain containing 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 3:43,321,391...43,418,788
Ensembl chr 3:43,321,476...43,418,784 		JBrowse link
G S Ptpdc1 protein tyrosine phosphatase domain containing 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004937000:156,634...195,760
Ensembl chrNW_004937000:156,596...195,717 		JBrowse link
G D PTPDC1 protein tyrosine phosphatase domain containing 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 1:97,942,905...98,002,025
Ensembl chr 1:97,944,325...98,002,074 		JBrowse link
G B PTPDC1 protein tyrosine phosphatase domain containing 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:65,151,252...65,230,335
Ensembl chr 9:93,212,501...93,290,945 		JBrowse link
G C Ptpdc1 protein tyrosine phosphatase domain containing 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004955515:3,912,495...4,044,999
Ensembl chrNW_004955515:3,912,117...4,044,999 		JBrowse link
G R Ptpdc1 protein tyrosine phosphatase domain containing 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:16,028,964...16,076,512
Ensembl chr17:16,049,382...16,076,512 		JBrowse link
G M Ptpdc1 protein tyrosine phosphatase domain containing 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr13:48,731,345...48,779,148
Ensembl chr13:48,731,348...48,779,140 		JBrowse link
G H PTPDC1 protein tyrosine phosphatase domain containing 1 IAGP ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:94,030,813...94,109,856
Ensembl chr 9:94,030,794...94,109,856 		JBrowse link
G R Zfp169 zinc finger protein 169 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:16,139,204...16,167,242
Ensembl chr17:16,139,253...16,169,914 		JBrowse link
G M Zfp169 zinc finger protein 169 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr13:48,634,239...48,666,969
Ensembl chr13:48,641,123...48,666,927 		JBrowse link
G G ZNF169 zinc finger protein 169 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr12:104,586,491...104,626,236 JBrowse link
G P ZNF169 zinc finger protein 169 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 3:43,503,225...43,561,299
Ensembl chr 3:43,504,685...43,558,908 		JBrowse link
G D ZNF169 zinc finger protein 169 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 1:97,811,128...97,854,011
Ensembl chr 1:97,811,274...97,853,966 		JBrowse link
G B ZNF169 zinc finger protein 169 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:65,368,373...65,408,193
Ensembl chr 9:93,443,042...93,468,404 		JBrowse link
G H ZNF169 zinc finger protein 169 IAGP ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:94,259,298...94,301,829
Ensembl chr 9:94,259,298...94,301,829 		JBrowse link
Galloway-Mowat syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:31481669 NCBI chrNW_004624734:9,628,487...9,630,821
Ensembl chrNW_004624734:9,628,653...9,630,757 		JBrowse link
G G GON7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:31481669 NCBI chr24:70,941,245...70,945,561
Ensembl chr24:70,940,910...70,945,485 		JBrowse link
G P GON7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:31481669 NCBI chr 7:114,586,306...114,590,804
Ensembl chr 7:114,585,474...114,590,787 		JBrowse link
G S Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:31481669 NCBI chrNW_004936733:1,109,456...1,127,176
Ensembl chrNW_004936733:1,124,039...1,127,566 		JBrowse link
G D GON7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:31481669 NCBI chr 8:62,406,682...62,410,476
Ensembl chr 8:62,407,136...62,410,414 		JBrowse link
G B GON7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:31481669 NCBI chr14:73,835,545...73,839,756
Ensembl chr14:93,171,999...93,176,201 		JBrowse link
G C Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:31481669 NCBI chrNW_004955438:15,319,033...15,321,648 JBrowse link
G R Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:31481669 NCBI chr 6:121,882,565...121,898,452
Ensembl chr 6:121,885,694...121,898,643
Ensembl chr 6:121,885,694...121,898,643 		JBrowse link
G M Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:31481669 NCBI chr12:102,719,534...102,724,069
Ensembl chr12:102,719,534...102,724,062 		JBrowse link
G H GON7 GON7 subunit of KEOPS complex IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:31481669 NCBI chr14:93,202,894...93,207,065
Ensembl chr14:93,202,894...93,207,065 		JBrowse link
G N Lage3 L antigen family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chrNW_004624946:951,479...952,962
Ensembl chrNW_004624946:949,343...953,362 		JBrowse link
G G LAGE3 L antigen family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:128,725,788...128,727,565 JBrowse link
G P LAGE3 L antigen family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:125,001,673...125,003,206 JBrowse link
G S Lage3 L antigen family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chrNW_004936809:1,229,933...1,232,448 JBrowse link
G D LAGE3 L antigen family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:122,185,300...122,186,498 JBrowse link
G B LAGE3 L antigen family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:143,919,519...143,921,001
Ensembl chr  X:153,790,672...153,792,549 		JBrowse link
G C Lage3 L antigen family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chrNW_004955580:992,190...993,617
Ensembl chrNW_004955580:992,190...993,617 		JBrowse link
G R Lage3 L antigen family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632 		JBrowse link
G M Lage3 L antigen family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:73,395,768...73,397,224
Ensembl chr  X:73,394,882...73,397,224 		JBrowse link
G H LAGE3 L antigen family member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281 		JBrowse link
G N Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:17897280 PMID:25741868 PMID:28272532 PMID:28805828 NCBI chrNW_004624825:4,715,133...4,721,884
Ensembl chrNW_004624825:4,714,993...4,721,884 		JBrowse link
G G OSGEP O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:17897280 PMID:25741868 PMID:28272532 PMID:28805828 NCBI chr29:20,960,710...20,969,321
Ensembl chr29:20,960,378...20,968,903 		JBrowse link
G P OSGEP O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:17897280 PMID:25741868 PMID:28272532 PMID:28805828 NCBI chr 7:78,454,667...78,462,260
Ensembl chr 7:78,454,666...78,462,258 		JBrowse link
G S Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:17897280 PMID:25741868 PMID:28272532 PMID:28805828 NCBI chrNW_004936877:659,881...666,169
Ensembl chrNW_004936877:659,874...666,026 		JBrowse link
G D OSGEP O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:17897280 PMID:25741868 PMID:28272532 PMID:28805828 NCBI chr15:17,780,474...17,786,452
Ensembl chr15:17,780,476...17,811,173 		JBrowse link
G B OSGEP O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:17897280 PMID:25741868 PMID:28272532 PMID:28805828 NCBI chr14:1,321,599...1,329,604
Ensembl chr14:19,373,836...19,381,888 		JBrowse link
G C Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:17897280 PMID:25741868 PMID:28272532 PMID:28805828 NCBI chrNW_004955550:1,266,191...1,273,093
Ensembl chrNW_004955550:1,265,401...1,273,299 		JBrowse link
G R Osgep O-sialoglycoprotein endopeptidase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Galloway-Mowat syndrome		 CTD
ClinVar		 PMID:17897280 PMID:25741868 PMID:28272532 PMID:28805828 NCBI chr15:24,137,149...24,144,568
Ensembl chr15:24,137,153...24,144,568 		JBrowse link
G M Osgep O-sialoglycoprotein endopeptidase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Galloway-Mowat syndrome		 CTD
ClinVar		 PMID:17897280 PMID:25741868 PMID:28272532 PMID:28805828 NCBI chr14:51,152,831...51,162,350
Ensembl chr14:51,143,935...51,162,350 		JBrowse link
G H OSGEP O-sialoglycoprotein endopeptidase EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Galloway-Mowat syndrome		 CTD
ClinVar		 PMID:17897280 PMID:25741868 PMID:28272532 PMID:28805828 NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089 		JBrowse link
G N Tp53rk TP53 regulating kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chrNW_004624790:7,992,996...7,996,191
Ensembl chrNW_004624790:7,992,762...7,998,639 		JBrowse link
G G TP53RK TP53 regulating kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 2:17,196,599...17,199,829
Ensembl chr 2:17,196,172...17,203,130 		JBrowse link
G P TP53RK TP53 regulating kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr17:48,814,402...48,817,984
Ensembl chr17:48,814,703...48,817,824 		JBrowse link
G S Tp53rk TP53 regulating kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chrNW_004936514:6,512,838...6,515,479
Ensembl chrNW_004936514:6,512,778...6,515,771 		JBrowse link
G D TP53RK TP53 regulating kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr24:33,895,530...33,898,461
Ensembl chr24:33,895,640...33,898,446 		JBrowse link
G B TP53RK TP53 regulating kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr20:43,019,398...43,022,445
Ensembl chr20:44,101,668...44,107,497 		JBrowse link
G C Tp53rk TP53 regulating kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chrNW_004955445:10,734,723...10,737,445
Ensembl chrNW_004955445:10,734,723...10,738,570 		JBrowse link
G H TP53RK TP53 regulating kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444 		JBrowse link
G R Tp53rka Tp53 tumor protein p53 regulating kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 3:154,219,672...154,224,841
Ensembl chr 3:154,220,851...154,224,328 		JBrowse link
G G TPRKB TP53RK binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr14:33,518,089...33,526,122
Ensembl chr14:33,521,398...33,527,613 		JBrowse link
G P TPRKB TP53RK binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 3:69,235,111...69,243,709
Ensembl chr 3:69,236,351...69,243,914 		JBrowse link
G S Tprkb TP53RK binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chrNW_004936491:17,493,630...17,500,779
Ensembl chrNW_004936491:17,493,285...17,500,523 		JBrowse link
G D TPRKB TP53RK binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr17:49,271,845...49,278,794
Ensembl chr17:49,245,496...49,278,767 		JBrowse link
G B TPRKB TP53RK binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr2A:73,791,353...73,801,570
Ensembl chr2A:75,326,512...75,334,271 		JBrowse link
G C Tprkb TP53RK binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chrNW_004955424:11,961,994...11,969,610
Ensembl chrNW_004955424:11,961,994...11,969,610 		JBrowse link
G R Tprkb Tp53rk binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 4:118,342,910...118,357,908
Ensembl chr 4:118,342,945...118,357,901 		JBrowse link
G M Tprkb Tp53rk binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 6:85,888,842...85,907,266
Ensembl chr 6:85,888,847...85,907,266 		JBrowse link
G H TPRKB TP53RK binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 2:73,729,873...73,737,345
Ensembl chr 2:73,729,104...73,737,400 		JBrowse link
G M Trp53rka transformation related protein 53 regulating kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 2:165,332,032...165,335,244
Ensembl chr 2:165,332,030...165,335,244 		JBrowse link
G N Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chrNW_004624745:27,795,205...27,822,468
Ensembl chrNW_004624745:27,795,833...27,820,228 		JBrowse link
G G WDR4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr 2:86,715,939...86,745,972
Ensembl chr 2:86,716,922...86,745,547 		JBrowse link
G P WDR4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr13:206,074,943...206,094,713
Ensembl chr13:206,074,945...206,094,297 		JBrowse link
G S Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chrNW_004936500:1,144,190...1,162,925
Ensembl chrNW_004936500:1,144,097...1,167,296 		JBrowse link
G D WDR4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr31:37,085,126...37,106,803
Ensembl chr31:37,085,779...37,106,788 		JBrowse link
G B WDR4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr21:29,161,429...29,191,672
Ensembl chr21:42,472,371...42,502,336 		JBrowse link
G C Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chrNW_004955407:39,044,328...39,066,277
Ensembl chrNW_004955407:39,044,328...39,066,277 		JBrowse link
G R Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581 		JBrowse link
G M Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr17:31,713,296...31,738,946
Ensembl chr17:31,713,296...31,738,954 		JBrowse link
G H WDR4 WD repeat domain 4 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568 		JBrowse link
G N Wdr73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25466283 NCBI chrNW_004624768:17,866,043...17,902,282
Ensembl chrNW_004624768:17,889,907...17,901,673 		JBrowse link
G G WDR73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25466283 NCBI chr29:3,707,254...3,718,600
Ensembl chr29:3,707,299...3,719,614 		JBrowse link
G P WDR73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25466283 NCBI chr 7:52,887,468...52,904,147
Ensembl chr 7:52,887,530...52,904,146 		JBrowse link
G S Wdr73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25466283 NCBI chrNW_004936483:16,698,878...16,711,510
Ensembl chrNW_004936483:16,697,086...16,711,518 		JBrowse link
G D WDR73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25466283 NCBI chr 3:53,914,048...53,927,130
Ensembl chr 3:53,914,619...53,927,034 		JBrowse link
G B WDR73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25466283 NCBI chr15:63,310,497...63,322,064
Ensembl chr15:82,633,080...82,645,833 		JBrowse link
G C Wdr73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25466283 NCBI chrNW_004955416:14,471,479...14,485,416
Ensembl chrNW_004955416:14,471,421...14,485,201 		JBrowse link
G R Wdr73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25466283 NCBI chr 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479 		JBrowse link
G M Wdr73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25466283 NCBI chr 7:80,540,471...80,551,017
Ensembl chr 7:80,540,471...80,551,017 		JBrowse link
G H WDR73 WD repeat domain 73 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25466283 NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343 		JBrowse link
G R Zfp592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443 		JBrowse link
G M Zfp592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr 7:80,643,432...80,694,912
Ensembl chr 7:80,643,429...80,694,912 		JBrowse link
G N Znf592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chrNW_004624768:18,007,098...18,054,320
Ensembl chrNW_004624768:18,030,118...18,054,346 		JBrowse link
G G ZNF592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr29:3,554,095...3,611,845
Ensembl chr29:3,553,618...3,611,834 		JBrowse link
G P ZNF592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr 7:52,731,690...52,793,950
Ensembl chr 7:52,731,224...52,793,927 		JBrowse link
G S Znf592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chrNW_004936483:16,812,578...16,849,188
Ensembl chrNW_004936483:16,813,164...16,849,188 		JBrowse link
G D ZNF592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr 3:53,980,438...54,056,011
Ensembl chr 3:53,990,434...54,114,486 		JBrowse link
G B ZNF592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr15:63,415,760...63,473,499
Ensembl chr15:82,773,254...82,792,904 		JBrowse link
G C Znf592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chrNW_004955416:14,328,250...14,365,346
Ensembl chrNW_004955416:14,326,603...14,365,400 		JBrowse link
G H ZNF592 zinc finger protein 592 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr15:84,748,592...84,806,445
Ensembl chr15:84,748,592...84,806,445 		JBrowse link
Galloway-Mowat syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Eng endoglin ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 More... NCBI chrNW_004624760:7,703,979...7,735,636
Ensembl chrNW_004624760:7,703,820...7,734,457 		JBrowse link
G G ENG endoglin ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 More... NCBI chr12:10,274,705...10,315,715
Ensembl chr12:10,275,064...10,315,040 		JBrowse link
G P ENG endoglin ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 More... NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783 		JBrowse link
G S Eng endoglin ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 More... NCBI chrNW_004936487:15,467,165...15,499,180
Ensembl chrNW_004936487:15,467,835...15,477,488 		JBrowse link
G D ENG endoglin ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 More... NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064 		JBrowse link
G B ENG endoglin ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 More... NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641 		JBrowse link
G C Eng endoglin ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 More... NCBI chrNW_004955419:818,797...853,319
Ensembl chrNW_004955419:818,932...852,694 		JBrowse link
G R Eng endoglin ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 More... NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230 		JBrowse link
G M Eng endoglin ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 More... NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681 		JBrowse link
G H ENG endoglin IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 More... NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,815,013...127,854,658 		JBrowse link
G N Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition OMIM
ClinVar		 PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More... NCBI chrNW_004624768:17,866,043...17,902,282
Ensembl chrNW_004624768:17,889,907...17,901,673 		JBrowse link
G G WDR73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition OMIM
ClinVar		 PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More... NCBI chr29:3,707,254...3,718,600
Ensembl chr29:3,707,299...3,719,614 		JBrowse link
G P WDR73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition OMIM
ClinVar		 PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More... NCBI chr 7:52,887,468...52,904,147
Ensembl chr 7:52,887,530...52,904,146 		JBrowse link
G S Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition OMIM
ClinVar		 PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More... NCBI chrNW_004936483:16,698,878...16,711,510
Ensembl chrNW_004936483:16,697,086...16,711,518 		JBrowse link
G D WDR73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition OMIM
ClinVar		 PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More... NCBI chr 3:53,914,048...53,927,130
Ensembl chr 3:53,914,619...53,927,034 		JBrowse link
G B WDR73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition OMIM
ClinVar		 PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More... NCBI chr15:63,310,497...63,322,064
Ensembl chr15:82,633,080...82,645,833 		JBrowse link
G C Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition OMIM
ClinVar		 PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More... NCBI chrNW_004955416:14,471,479...14,485,416
Ensembl chrNW_004955416:14,471,421...14,485,201 		JBrowse link
G R Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition OMIM
ClinVar		 PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More... NCBI chr 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479 		JBrowse link
G M Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition OMIM
ClinVar		 PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More... NCBI chr 7:80,540,471...80,551,017
Ensembl chr 7:80,540,471...80,551,017 		JBrowse link
G H WDR73 WD repeat domain 73 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition OMIM
ClinVar		 PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More... NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343 		JBrowse link
G R Zfp592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443 		JBrowse link
G M Zfp592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chr 7:80,643,432...80,694,912
Ensembl chr 7:80,643,429...80,694,912 		JBrowse link
G N Znf592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chrNW_004624768:18,007,098...18,054,320
Ensembl chrNW_004624768:18,030,118...18,054,346 		JBrowse link
G G ZNF592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chr29:3,554,095...3,611,845
Ensembl chr29:3,553,618...3,611,834 		JBrowse link
G P ZNF592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chr 7:52,731,690...52,793,950
Ensembl chr 7:52,731,224...52,793,927 		JBrowse link
G S Znf592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chrNW_004936483:16,812,578...16,849,188
Ensembl chrNW_004936483:16,813,164...16,849,188 		JBrowse link
G D ZNF592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chr 3:53,980,438...54,056,011
Ensembl chr 3:53,990,434...54,114,486 		JBrowse link
G B ZNF592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chr15:63,415,760...63,473,499
Ensembl chr15:82,773,254...82,792,904 		JBrowse link
G C Znf592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chrNW_004955416:14,328,250...14,365,346
Ensembl chrNW_004955416:14,326,603...14,365,400 		JBrowse link
G H ZNF592 zinc finger protein 592 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chr15:84,748,592...84,806,445
Ensembl chr15:84,748,592...84,806,445 		JBrowse link
Galloway-Mowat Syndrome 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M 1110065P20Rik RIKEN cDNA 1110065P20 gene ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 ClinVar PMID:31481669 NCBI chr 4:124,743,284...124,744,479
Ensembl chr 4:124,742,873...124,744,989 		JBrowse link
G D C15H1orf122 chromosome 15 C1orf122 homolog ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 ClinVar PMID:31481669 NCBI chr15:4,723,244...4,724,512
Ensembl chr15:4,723,616...4,724,386 		JBrowse link
G B C1H1orf122 chromosome 1 C1orf122 homolog ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 ClinVar PMID:31481669 NCBI chr 1:37,082,486...37,084,170 JBrowse link
G H C1orf122 chromosome 1 open reading frame 122 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 ClinVar PMID:31481669 NCBI chr 1:37,807,790...37,809,454
Ensembl chr 1:37,806,979...37,809,454 		JBrowse link
G R C5h1orf122 similar to human chromosome 1 open reading frame 122 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 ClinVar PMID:31481669 NCBI chr 5:137,109,093...137,110,130
Ensembl chr 5:137,108,633...137,110,929 		JBrowse link
G P C6H1orf122 chromosome 6 C1orf122 homolog ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 ClinVar PMID:31481669 NCBI chr 6:93,833,766...93,834,925
Ensembl chr 6:93,833,760...93,834,916 		JBrowse link
G N CUNH1orf122 chromosome unknown C1orf122 homolog ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 ClinVar PMID:31481669 NCBI chrNW_004624764:20,509,478...20,510,619
Ensembl chrNW_004624764:20,509,293...20,510,619 		JBrowse link
G G CUNH1orf122 chromosome unknown C1orf122 homolog ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 ClinVar PMID:31481669 NCBI chr20:95,052,491...95,054,182
Ensembl chr20:95,052,670...95,054,145 		JBrowse link
G S CUNH1orf122 chromosome unknown C1orf122 homolog ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 ClinVar PMID:31481669 NCBI chrNW_004936474:19,979,705...19,981,362
Ensembl chrNW_004936474:19,979,710...19,981,366 		JBrowse link
G C CUNH1orf122 chromosome unknown C1orf122 homolog ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 ClinVar PMID:31481669 NCBI chrNW_004955452:15,579,225...15,580,362
Ensembl chrNW_004955452:15,579,035...15,580,362 		JBrowse link
G H LOC129930167 ATAC-STARR-seq lymphoblastoid silent region 680 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 ClinVar PMID:31481669
G N Yrdc yrdC N6-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 OMIM
ClinVar		 PMID:31481669 PMID:34545459 NCBI chrNW_004624764:20,504,732...20,509,360
Ensembl chrNW_004624764:20,504,732...20,509,389 		JBrowse link
G G YRDC yrdC N6-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 OMIM
ClinVar		 PMID:31481669 PMID:34545459 NCBI chr20:95,053,749...95,058,605
Ensembl chr20:95,053,177...95,063,268 		JBrowse link
G P YRDC yrdC N6-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 OMIM
ClinVar		 PMID:31481669 PMID:34545459 NCBI chr 6:93,829,320...93,833,776
Ensembl chr 6:93,829,321...93,833,842 		JBrowse link
G S Yrdc yrdC N6-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 OMIM
ClinVar		 PMID:31481669 PMID:34545459 NCBI chrNW_004936474:19,975,781...19,980,103
Ensembl chrNW_004936474:19,975,849...19,980,096 		JBrowse link
G D YRDC yrdC N6-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 OMIM
ClinVar		 PMID:31481669 PMID:34545459 NCBI chr15:4,724,468...4,728,659
Ensembl chr15:4,723,716...4,728,000 		JBrowse link
G B YRDC yrdC N6-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 OMIM
ClinVar		 PMID:31481669 PMID:34545459 NCBI chr 1:37,077,653...37,082,929 JBrowse link
G C Yrdc yrdC N6-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 OMIM
ClinVar		 PMID:31481669 PMID:34545459 NCBI chrNW_004955452:15,575,421...15,579,186
Ensembl chrNW_004955452:15,575,421...15,579,186 		JBrowse link
G R Yrdc yrdC N(6)-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 OMIM
ClinVar		 PMID:31481669 PMID:34545459 NCBI chr 5:137,110,244...137,115,127
Ensembl chr 5:137,110,279...137,115,120 		JBrowse link
G M Yrdc yrdC domain containing (E.coli) ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 OMIM
ClinVar		 PMID:31481669 PMID:34545459 NCBI chr 4:124,744,552...124,749,035
Ensembl chr 4:124,744,472...124,749,035 		JBrowse link
G H YRDC yrdC N6-threonylcarbamoyltransferase domain containing IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 OMIM
ClinVar		 PMID:31481669 PMID:34545459 NCBI chr 1:37,802,945...37,808,208
Ensembl chr 1:37,802,945...37,808,208 		JBrowse link
Galloway-Mowat syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Lage3 L antigen family member 3 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked OMIM
ClinVar		 PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 NCBI chrNW_004624946:951,479...952,962
Ensembl chrNW_004624946:949,343...953,362 		JBrowse link
G G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked OMIM
ClinVar		 PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 NCBI chr  X:128,725,788...128,727,565 JBrowse link
G P LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked OMIM
ClinVar		 PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 NCBI chr  X:125,001,673...125,003,206 JBrowse link
G S Lage3 L antigen family member 3 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked OMIM
ClinVar		 PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 NCBI chrNW_004936809:1,229,933...1,232,448 JBrowse link
G D LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked OMIM
ClinVar		 PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 NCBI chr  X:122,185,300...122,186,498 JBrowse link
G B LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked OMIM
ClinVar		 PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 NCBI chr  X:143,919,519...143,921,001
Ensembl chr  X:153,790,672...153,792,549 		JBrowse link
G C Lage3 L antigen family member 3 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked OMIM
ClinVar		 PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 NCBI chrNW_004955580:992,190...993,617
Ensembl chrNW_004955580:992,190...993,617 		JBrowse link
G R Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked OMIM
ClinVar		 PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 NCBI chr  X:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632 		JBrowse link
G M Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked OMIM
ClinVar		 PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 NCBI chr  X:73,395,768...73,397,224
Ensembl chr  X:73,394,882...73,397,224 		JBrowse link
G H LAGE3 L antigen family member 3 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked ClinVar
OMIM		 PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281 		JBrowse link
G H LOC130068876 ATAC-STARR-seq lymphoblastoid silent region 21109 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked ClinVar PMID:25741868 PMID:28805828 NCBI chr  X:154,478,675...154,478,894 JBrowse link
Galloway-Mowat syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H LOC107372315 OSGEP/APEX1 bi-directional promoter region IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 ClinVar PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 PMID:33532864 More... NCBI chr14:20,451,644...20,455,489 JBrowse link
G M LOC107399302 Apex1 promoter region ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 ClinVar PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 PMID:33532864 More... NCBI chr14:51,162,126...51,162,598 JBrowse link
G N Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 OMIM
ClinVar		 PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chrNW_004624825:4,715,133...4,721,884
Ensembl chrNW_004624825:4,714,993...4,721,884 		JBrowse link
G G OSGEP O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 OMIM
ClinVar		 PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chr29:20,960,710...20,969,321
Ensembl chr29:20,960,378...20,968,903 		JBrowse link
G P OSGEP O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 OMIM
ClinVar		 PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chr 7:78,454,667...78,462,260
Ensembl chr 7:78,454,666...78,462,258 		JBrowse link
G S Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 OMIM
ClinVar		 PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chrNW_004936877:659,881...666,169
Ensembl chrNW_004936877:659,874...666,026 		JBrowse link
G D OSGEP O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 OMIM
ClinVar		 PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chr15:17,780,474...17,786,452
Ensembl chr15:17,780,476...17,811,173 		JBrowse link
G B OSGEP O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 OMIM
ClinVar		 PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chr14:1,321,599...1,329,604
Ensembl chr14:19,373,836...19,381,888 		JBrowse link
G C Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 OMIM
ClinVar		 PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chrNW_004955550:1,266,191...1,273,093
Ensembl chrNW_004955550:1,265,401...1,273,299 		JBrowse link
G R Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 OMIM
ClinVar		 PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chr15:24,137,149...24,144,568
Ensembl chr15:24,137,153...24,144,568 		JBrowse link
G M Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 OMIM
ClinVar		 PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chr14:51,152,831...51,162,350
Ensembl chr14:51,143,935...51,162,350 		JBrowse link
G H OSGEP O-sialoglycoprotein endopeptidase IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 OMIM
ClinVar		 PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089 		JBrowse link
Galloway-Mowat syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Tp53rk TP53 regulating kinase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 NCBI chrNW_004624790:7,992,996...7,996,191
Ensembl chrNW_004624790:7,992,762...7,998,639 		JBrowse link
G G TP53RK TP53 regulating kinase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 NCBI chr 2:17,196,599...17,199,829
Ensembl chr 2:17,196,172...17,203,130 		JBrowse link
G P TP53RK TP53 regulating kinase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 NCBI chr17:48,814,402...48,817,984
Ensembl chr17:48,814,703...48,817,824 		JBrowse link
G S Tp53rk TP53 regulating kinase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 NCBI chrNW_004936514:6,512,838...6,515,479
Ensembl chrNW_004936514:6,512,778...6,515,771 		JBrowse link
G D TP53RK TP53 regulating kinase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 NCBI chr24:33,895,530...33,898,461
Ensembl chr24:33,895,640...33,898,446 		JBrowse link
G B TP53RK TP53 regulating kinase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 NCBI chr20:43,019,398...43,022,445
Ensembl chr20:44,101,668...44,107,497 		JBrowse link
G C Tp53rk TP53 regulating kinase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 NCBI chrNW_004955445:10,734,723...10,737,445
Ensembl chrNW_004955445:10,734,723...10,738,570 		JBrowse link
G H TP53RK TP53 regulating kinase IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 NCBI chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444 		JBrowse link
G R Tp53rka Tp53 tumor protein p53 regulating kinase A ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 NCBI chr 3:154,219,672...154,224,841
Ensembl chr 3:154,220,851...154,224,328 		JBrowse link
G M Trp53rka transformation related protein 53 regulating kinase A ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 NCBI chr 2:165,332,032...165,335,244
Ensembl chr 2:165,332,030...165,335,244 		JBrowse link
Galloway-Mowat syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G TPRKB TP53RK binding protein ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 NCBI chr14:33,518,089...33,526,122
Ensembl chr14:33,521,398...33,527,613 		JBrowse link
G P TPRKB TP53RK binding protein ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 NCBI chr 3:69,235,111...69,243,709
Ensembl chr 3:69,236,351...69,243,914 		JBrowse link
G S Tprkb TP53RK binding protein ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 NCBI chrNW_004936491:17,493,630...17,500,779
Ensembl chrNW_004936491:17,493,285...17,500,523 		JBrowse link
G D TPRKB TP53RK binding protein ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 NCBI chr17:49,271,845...49,278,794
Ensembl chr17:49,245,496...49,278,767 		JBrowse link
G B TPRKB TP53RK binding protein ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 NCBI chr2A:73,791,353...73,801,570
Ensembl chr2A:75,326,512...75,334,271 		JBrowse link
G C Tprkb TP53RK binding protein ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 NCBI chrNW_004955424:11,961,994...11,969,610
Ensembl chrNW_004955424:11,961,994...11,969,610 		JBrowse link
G R Tprkb Tp53rk binding protein ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 NCBI chr 4:118,342,910...118,357,908
Ensembl chr 4:118,342,945...118,357,901 		JBrowse link
G M Tprkb Tp53rk binding protein ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 NCBI chr 6:85,888,842...85,907,266
Ensembl chr 6:85,888,847...85,907,266 		JBrowse link
G H TPRKB TP53RK binding protein IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 5 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 NCBI chr 2:73,729,873...73,737,345
Ensembl chr 2:73,729,104...73,737,400 		JBrowse link
Galloway-Mowat Syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 More... NCBI chrNW_004624745:27,795,205...27,822,468
Ensembl chrNW_004624745:27,795,833...27,820,228 		JBrowse link
G G WDR4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 More... NCBI chr 2:86,715,939...86,745,972
Ensembl chr 2:86,716,922...86,745,547 		JBrowse link
G P WDR4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 More... NCBI chr13:206,074,943...206,094,713
Ensembl chr13:206,074,945...206,094,297 		JBrowse link
G S Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 More... NCBI chrNW_004936500:1,144,190...1,162,925
Ensembl chrNW_004936500:1,144,097...1,167,296 		JBrowse link
G D WDR4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 More... NCBI chr31:37,085,126...37,106,803
Ensembl chr31:37,085,779...37,106,788 		JBrowse link
G B WDR4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 More... NCBI chr21:29,161,429...29,191,672
Ensembl chr21:42,472,371...42,502,336 		JBrowse link
G C Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 More... NCBI chrNW_004955407:39,044,328...39,066,277
Ensembl chrNW_004955407:39,044,328...39,066,277 		JBrowse link
G R Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 More... NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581 		JBrowse link
G M Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 More... NCBI chr17:31,713,296...31,738,946
Ensembl chr17:31,713,296...31,738,954 		JBrowse link
G H WDR4 WD repeat domain 4 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 More... NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568 		JBrowse link
Galloway-Mowat Syndrome 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 7 OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 More... NCBI chrNW_004624948:556,054...604,381
Ensembl chrNW_004624948:556,127...601,540 		JBrowse link
G G NUP107 nucleoporin 107 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 7 OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 More... NCBI chr11:64,317,489...64,375,609
Ensembl chr11:64,317,521...64,375,398 		JBrowse link
G P NUP107 nucleoporin 107 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 7 OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 More... NCBI chr 5:32,989,661...33,040,565
Ensembl chr 5:32,989,794...33,042,575 		JBrowse link
G S Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 7 OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 More... NCBI chrNW_004936545:6,600,124...6,642,839
Ensembl chrNW_004936545:6,600,088...6,642,870 		JBrowse link
G D NUP107 nucleoporin 107 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 7 OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 More... NCBI chr10:10,838,881...10,887,347
Ensembl chr10:10,838,944...10,887,197 		JBrowse link
G B NUP107 nucleoporin 107 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 7 OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 More... NCBI chr12:66,198,838...66,254,505
Ensembl chr12:68,981,409...69,035,642 		JBrowse link
G C Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 7 OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 More... NCBI chrNW_004955458:15,148,773...15,201,717
Ensembl chrNW_004955458:15,149,054...15,201,635 		JBrowse link
G R Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 7 OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 More... NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370 		JBrowse link
G M Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 7 OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 More... NCBI chr10:117,586,526...117,628,607
Ensembl chr10:117,586,526...117,628,610 		JBrowse link
G H NUP107 nucleoporin 107 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 7 OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 More... NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809 		JBrowse link
Galloway-Mowat Syndrome 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 OMIM
ClinVar		 PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 NCBI chrNW_004624775:19,589,496...19,647,823
Ensembl chrNW_004624775:19,589,372...19,648,884 		JBrowse link
G G NUP133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 OMIM
ClinVar		 PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 NCBI chr25:66,710,468...66,777,672 JBrowse link
G P NUP133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 OMIM
ClinVar		 PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 NCBI chr14:60,353,420...60,404,952
Ensembl chr14:60,353,474...60,408,828 		JBrowse link
G S Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 OMIM
ClinVar		 PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 NCBI chrNW_004936484:20,185,558...20,230,904
Ensembl chrNW_004936484:20,185,584...20,231,352 		JBrowse link
G D NUP133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 OMIM
ClinVar		 PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 NCBI chr 4:9,751,902...9,805,796
Ensembl chr 4:9,751,986...9,805,033 		JBrowse link
G B NUP133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 OMIM
ClinVar		 PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 NCBI chr 1:204,985,690...205,053,072
Ensembl chr 1:210,017,649...210,084,746 		JBrowse link
G C Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 OMIM
ClinVar		 PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 NCBI chrNW_004955492:8,583,902...8,641,891
Ensembl chrNW_004955492:8,583,869...8,643,433 		JBrowse link
G R Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 OMIM
ClinVar		 PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 NCBI chr19:51,891,606...51,941,243
Ensembl chr19:51,891,629...51,941,239 		JBrowse link
G M Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 OMIM
ClinVar		 PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 NCBI chr 8:124,623,862...124,676,019
Ensembl chr 8:124,623,862...124,676,004 		JBrowse link
G H NUP133 nucleoporin 133 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 OMIM
ClinVar		 PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 NCBI chr 1:229,440,259...229,508,341
Ensembl chr 1:229,440,259...229,508,341 		JBrowse link
Galloway-Mowat Syndrome 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 OMIM
ClinVar		 PMID:25741868 PMID:31481669 NCBI chrNW_004624734:9,628,487...9,630,821
Ensembl chrNW_004624734:9,628,653...9,630,757 		JBrowse link
G G GON7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 OMIM
ClinVar		 PMID:25741868 PMID:31481669 NCBI chr24:70,941,245...70,945,561
Ensembl chr24:70,940,910...70,945,485 		JBrowse link
G P GON7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 OMIM
ClinVar		 PMID:25741868 PMID:31481669 NCBI chr 7:114,586,306...114,590,804
Ensembl chr 7:114,585,474...114,590,787 		JBrowse link
G S Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 OMIM
ClinVar		 PMID:25741868 PMID:31481669 NCBI chrNW_004936733:1,109,456...1,127,176
Ensembl chrNW_004936733:1,124,039...1,127,566 		JBrowse link
G D GON7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 OMIM
ClinVar		 PMID:25741868 PMID:31481669 NCBI chr 8:62,406,682...62,410,476
Ensembl chr 8:62,407,136...62,410,414 		JBrowse link
G B GON7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 OMIM
ClinVar		 PMID:25741868 PMID:31481669 NCBI chr14:73,835,545...73,839,756
Ensembl chr14:93,171,999...93,176,201 		JBrowse link
G C Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 OMIM
ClinVar		 PMID:25741868 PMID:31481669 NCBI chrNW_004955438:15,319,033...15,321,648 JBrowse link
G R Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 OMIM
ClinVar		 PMID:25741868 PMID:31481669 NCBI chr 6:121,882,565...121,898,452
Ensembl chr 6:121,885,694...121,898,643
Ensembl chr 6:121,885,694...121,898,643 		JBrowse link
G M Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 OMIM
ClinVar		 PMID:25741868 PMID:31481669 NCBI chr12:102,719,534...102,724,069
Ensembl chr12:102,719,534...102,724,062 		JBrowse link
G H GON7 GON7 subunit of KEOPS complex IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 OMIM
ClinVar		 PMID:25741868 PMID:31481669 NCBI chr14:93,202,894...93,207,065
Ensembl chr14:93,202,894...93,207,065 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 199759
    disease of anatomical entity 167983
      gastrointestinal system disease 65634
        stomach disease 10288
          hiatus hernia 230
            Galloway-Mowat syndrome + 133
            Intrathoracic Gastric Volvulus 0
            Sucrosuria, Hiatus Hernia and Mental Retardation 0
            displacement of cardia through esophageal hiatus 0
Path 2
Term Annotations click to browse term
  disease 199759
    disease of anatomical entity 167983
      nervous system disease 142629
        peripheral nervous system disease 41207
          neuropathy 39231
            neuromuscular disease 30786
              muscular disease 21598
                diaphragm disease 1217
                  Diaphragmatic Hernia 1207
                    hiatus hernia 230
                      Galloway-Mowat syndrome + 133
                      Intrathoracic Gastric Volvulus 0
                      Sucrosuria, Hiatus Hernia and Mental Retardation 0
                      displacement of cardia through esophageal hiatus 0
paths to the root