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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:diaphragm disease
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Accession:DOID:10481 term browser browse the term
Definition:A muscular disease that is located_in the diaphragm. (DO)
Synonyms:primary_id: RDO:9003116
 xref: ICD10CM:J98.6;   ICD9CM:519.4
For additional species annotation, visit the Alliance of Genome Resources.


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congenital diaphragmatic hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme ISO protein:increased activity:lung (rat) RGD PMID:9498404 RGD:12859277 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:22113494 RGD:6903875 NCBI chr  X:116,170,744...116,174,974
Ensembl chr  X:116,170,744...116,174,974
JBrowse link
G ATP7A ATPase copper transporting alpha ISO mRNA, protein:decreased expression:diaphragm (rat) RGD PMID:25319798 RGD:11341670 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,656...78,050,395
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO mRNA:decreased expression:heart: RGD PMID:18280291 RGD:9068407 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G CBL Cbl proto-oncogene ISO mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: RGD PMID:23143077 RGD:11038813 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
Ensembl chr11:119,206,298...119,313,926
JBrowse link
G CCL2 C-C motif chemokine ligand 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30418988 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
JBrowse link
G CCN2 cellular communication network factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20939759 PMID:21258935 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
JBrowse link
G CDK8 cyclin dependent kinase 8 IAGP ClinVar Annotator: match by term: DIH ClinVar PMID:25741868 NCBI chr13:26,254,125...26,405,238
Ensembl chr13:26,254,104...26,405,238
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP ClinVar Annotator: match by term: Agenesis of hemidiaphragm 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 DES desmin EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
CTD
ClinVar
PMID:14724127 PMID:15477095 PMID:16217025 PMID:16519886 PMID:16828798 PMID:16865695 PMID:17325244 PMID:17626518 PMID:20474083 PMID:21842594 PMID:22215463 PMID:23143191 PMID:23168288 PMID:23806086 PMID:23861362 PMID:24033266 PMID:24088041 PMID:25214167 PMID:25736269 PMID:25741868 PMID:26467025 PMID:27651373 PMID:28492532 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,734
JBrowse link
G ELN elastin ISO mRNA,protein:increased expression:lung: RGD PMID:12194112 RGD:9585688 NCBI chr 7:74,027,772...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G EP300 E1A binding protein p300 ISO mRNA:decreased expression:lung RGD PMID:24488106 RGD:9588310 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G EPO erythropoietin EXP CTD Direct Evidence: marker/mechanism CTD PMID:27880037 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:23806086 PMID:24088041 PMID:25736269 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,306...48,645,849
Ensembl chr15:48,408,306...48,645,849
JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20938900 NCBI chr 4:1,009,930...1,026,898
Ensembl chr 4:1,009,936...1,026,898
JBrowse link
G FOXC2 forkhead box C2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728
JBrowse link
G FOXF1 forkhead box F1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422
JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269
JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 IAGP
EXP
ISO
DNA:deletion, frame shift:cds, splice junction:
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
CTD Direct Evidence: marker/mechanism
mRNA,protein:decreased expression:diaphragm:
ClinVar
CTD
PMID:23221805 PMID:23806086 PMID:24088041 PMID:25736269 PMID:25741868 PMID:26382659, PMID:23221805, PMID:26382659, PMID:23221805 RGD:11554181, RGD:11554195, RGD:11554181 NCBI chr 9:14,734,666...14,911,653
Ensembl chr 9:14,734,666...14,910,995
Ensembl chr 9:14,734,666...14,910,995
JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 IAGP ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 NCBI chr13:38,687,041...38,887,131
Ensembl chr13:38,687,077...38,887,131
JBrowse link
G GATA4 GATA binding protein 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23426975 NCBI chr 8:11,676,931...11,760,002
Ensembl chr 8:11,676,959...11,760,002
JBrowse link
G GATA6 GATA binding protein 6 ISO
IAGP
mRNA:decreased expression:heart (rat)
ClinVar Annotator: match by term: DIH
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
ClinVar PMID:22158542 PMID:24385578, PMID:18280291 RGD:9068407 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr 7:41,960,949...42,237,209
Ensembl chr 7:41,960,949...42,237,870
Ensembl chr 7:41,960,949...42,237,870
JBrowse link
G IGF1 insulin like growth factor 1 ISO mRNA:decreased expression:heart (rat) RGD PMID:11409163 RGD:12904929 NCBI chr12:102,395,860...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IGF1R insulin like growth factor 1 receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
JBrowse link
G IGF2 insulin like growth factor 2 treatment ISO RGD PMID:24352370 RGD:10402563 NCBI chr11:2,129,112...2,149,603
Ensembl chr11:2,129,112...2,141,238
JBrowse link
G IGF2R insulin like growth factor 2 receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr 6:159,969,082...160,111,504
Ensembl chr 6:159,969,082...160,113,507
Ensembl chr 6:159,969,082...160,113,507
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO RGD PMID:19844724 RGD:10402761 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
JBrowse link
G IGFBP5 insulin like growth factor binding protein 5 ISO RGD PMID:19844724 RGD:10402761 NCBI chr 2:216,672,105...216,695,549
Ensembl chr 2:216,672,105...216,695,549
JBrowse link
G INSR insulin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:21433279 NCBI chr19:7,112,257...7,294,414
Ensembl chr19:7,112,255...7,294,414
JBrowse link
G KCNQ5 potassium voltage-gated channel subfamily Q member 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28189443 NCBI chr 6:72,621,843...73,198,853
Ensembl chr 6:72,621,792...73,198,851
Ensembl chr 6:72,621,792...73,198,851
JBrowse link
G KIF7 kinesin family member 7 ISO
ISS
mRNA,protein:decreased expression:diaphragmatic mesenchyme, pulmonary mesenchyme;
OMIM:142340 | OMIM:222400 | OMIM:610187
MouseDO PMID:25921351 RGD:11553839 NCBI chr15:89,627,977...89,663,086
Ensembl chr15:89,608,789...89,655,467
JBrowse link
G LRP1 LDL receptor related protein 1 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr12:57,128,401...57,213,377
Ensembl chr12:57,128,483...57,213,361
JBrowse link
G LZTR1 leucine zipper like transcription regulator 1 IAGP ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:1104268 PMID:14559814 PMID:17483355 PMID:21970370 PMID:22703879 PMID:23806086 PMID:24088041 PMID:24728327 PMID:25605252 PMID:25736269 PMID:25741868 PMID:25859546 PMID:26467025 PMID:28492532 NCBI chr 7:116,672,196...116,798,386
Ensembl chr 7:116,672,196...116,798,386
Ensembl chr 7:116,672,196...116,798,386
JBrowse link
G MN1 MN1 proto-oncogene, transcriptional regulator IAGP ClinVar Annotator: match by term: DIH ClinVar PMID:25741868 PMID:31834374 NCBI chr22:27,748,277...27,801,756
Ensembl chr22:27,748,277...27,801,756
JBrowse link
G MYOD1 myogenic differentiation 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21258934 NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136
JBrowse link
G NDST1 N-deacetylase and N-sulfotransferase 1 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 5:150,497,779...150,558,211
Ensembl chr 5:150,485,818...150,558,211
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:decreased expression:pulmonary artery (rat) RGD PMID:29216632 RGD:13504720 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G NR2F2 nuclear receptor subfamily 2 group F member 2 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr15:96,326,046...96,340,263
Ensembl chr15:96,325,938...96,340,263
JBrowse link
G PAX3 paired box 3 IAGP ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:8589691 PMID:8863157 PMID:9584079 PMID:9856573 PMID:23806086 PMID:24033266 PMID:24088041 PMID:25736269 PMID:25741868 PMID:26467025 PMID:29407415 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,888...222,298,996
Ensembl chr 2:222,199,888...222,298,996
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 4:54,229,127...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G PIM1 Pim-1 proto-oncogene, serine/threonine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr 6:37,170,152...37,175,428
Ensembl chr 6:37,170,152...37,175,428
JBrowse link
G RHOA ras homolog family member A EXP CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,145...49,412,998
Ensembl chr 3:49,359,145...49,412,998
JBrowse link
G ROBO4 roundabout guidance receptor 4 IAGP ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr11:124,883,691...124,897,865
Ensembl chr11:124,883,691...124,898,500
JBrowse link
G SLIT3 slit guidance ligand 3 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 5:168,661,740...169,301,139
Ensembl chr 5:168,661,733...169,301,129
Ensembl chr 5:168,661,733...169,301,129
JBrowse link
G SOD1 superoxide dismutase 1 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,622...31,668,931
Ensembl chr21:31,659,622...31,668,931
JBrowse link
G SOD2 superoxide dismutase 2 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G SOX7 SRY-box transcription factor 7 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 8:10,723,768...10,730,511
Ensembl chr 8:10,723,768...10,730,511
JBrowse link
G STAT3 signal transducer and activator of transcription 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr17:42,313,324...42,388,502
Ensembl chr17:42,313,324...42,388,482
Ensembl chr17:42,313,324...42,388,482
Ensembl chr17:42,313,324...42,388,482
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:10541330 RGD:12904053 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:decreased expression:lung: RGD PMID:15879288 RGD:7421593 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G WDR26 WD repeat domain 26 IAGP ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:30311386 NCBI chr 1:224,385,146...224,434,797
Ensembl chr 1:224,385,143...224,437,033
Ensembl chr 1:224,385,143...224,437,033
JBrowse link
G WNT11 Wnt family member 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr11:76,186,325...76,210,842
Ensembl chr11:76,186,325...76,210,736
JBrowse link
G WT1 WT1 transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:21072664 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
Ensembl chr11:32,387,775...32,435,564
JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 IEA
IAGP
ISS
OMIM:142340 | OMIM:222400 | OMIM:610187
ClinVar Annotator: match by term: Agenesis of hemidiaphragm
MouseDO
ClinVar
PMID:30311386 NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539
JBrowse link
G ZFPM2-AS1 ZFPM2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:30311386 NCBI chr 8:105,780,410...106,060,503
Ensembl chr 8:105,546,089...106,060,524
JBrowse link
diaphragmatic eventration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Diaphragmatic eventration ClinVar PMID:25741868 PMID:26619011 PMID:27631024 PMID:28492532 PMID:31568861 NCBI chr 3:179,148,114...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
Diaphragmatic Hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGT angiotensinogen EXP CTD Direct Evidence: marker/mechanism CTD PMID:16292651 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,702,523...230,714,122
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292651 NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
JBrowse link
G AQP5 aquaporin 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17245593 PMID:17270560 NCBI chr12:49,961,855...49,965,682
Ensembl chr12:49,961,872...49,965,682
JBrowse link
G BMP4 bone morphogenetic protein 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G CDK8 cyclin dependent kinase 8 IAGP ClinVar Annotator: match by term: Diaphragmatic hernia ClinVar PMID:25741868 NCBI chr13:26,254,125...26,405,238
Ensembl chr13:26,254,104...26,405,238
JBrowse link
G CFTR CF transmembrane conductance regulator EXP CTD Direct Evidence: therapeutic CTD PMID:16473863 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP ClinVar Annotator: match by term: Diaphragmatic hernia 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 EDN1 endothelin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chr 6:12,256,463...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G EDNRA endothelin receptor type A EXP CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954
JBrowse link
G EDNRB endothelin receptor type B EXP CTD Direct Evidence: marker/mechanism CTD PMID:10693666 NCBI chr13:77,895,481...77,975,527
Ensembl chr13:77,895,481...77,975,529
JBrowse link
G ELN elastin EXP CTD Direct Evidence: marker/mechanism CTD PMID:10359170 NCBI chr 7:74,027,772...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G FGF18 fibroblast growth factor 18 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17303798 NCBI chr 5:171,419,647...171,457,626
Ensembl chr 5:171,419,647...171,457,626
JBrowse link
G FGF2 fibroblast growth factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10646786 NCBI chr 4:122,826,708...122,898,236
Ensembl chr 4:122,826,708...122,898,236
JBrowse link
G FOXA2 forkhead box A2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16863852 NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,581,005...22,585,455
Ensembl chr20:22,581,005...22,585,455
JBrowse link
G GATA4 GATA binding protein 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr 8:11,676,931...11,760,002
Ensembl chr 8:11,676,959...11,760,002
JBrowse link
G GATA6 GATA binding protein 6 IAGP
EXP
ClinVar Annotator: match by term: Diaphragmatic hernia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:18280291 PMID:22158542 PMID:24385578 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
JBrowse link
G GJA1 gap junction protein alpha 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16292552 PMID:16720372 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G HOXA5 homeobox A5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chr 7:27,141,052...27,143,681
Ensembl chr 7:27,141,052...27,143,681
JBrowse link
G HOXB3 homeobox B3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chr17:48,548,870...48,590,241
Ensembl chr17:48,548,870...48,604,912
JBrowse link
G ICAM1 intercellular adhesion molecule 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12759764 PMID:17245593 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IGF1 insulin like growth factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chr12:102,395,860...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IGF2 insulin like growth factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chr11:2,129,112...2,149,603
Ensembl chr11:2,129,112...2,141,238
JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18500730 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G KCNA2 potassium voltage-gated channel subfamily A member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr 1:110,593,580...110,631,536
Ensembl chr 1:110,519,837...110,631,474
JBrowse link
G KCNB1 potassium voltage-gated channel subfamily B member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr20:49,363,877...49,484,033
Ensembl chr20:49,293,394...49,484,297
JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr10:76,869,602...77,637,969
Ensembl chr10:76,869,601...77,638,369
JBrowse link
G LRP2 LDL receptor related protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chr 2:169,127,109...169,362,597
Ensembl chr 2:169,127,109...169,362,534
JBrowse link
G MN1 MN1 proto-oncogene, transcriptional regulator IAGP ClinVar Annotator: match by term: Diaphragmatic hernia ClinVar PMID:25741868 PMID:31834374 NCBI chr22:27,748,277...27,801,756
Ensembl chr22:27,748,277...27,801,756
JBrowse link
G MYOD1 myogenic differentiation 1 ISO mRNA:decreased expression:diaphragm RGD PMID:21258934 RGD:9686080 NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136
JBrowse link
G NKX2-1 NK2 homeobox 1 ISO
EXP
mRNA, protein:increased expression:lung
CTD Direct Evidence: marker/mechanism
CTD PMID:10830305 PMID:16863852, PMID:17245593 RGD:1600158 NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
JBrowse link
G NOS3 nitric oxide synthase 3 ISO
EXP
mRNA, protein:decreased expression:lung
CTD Direct Evidence: marker/mechanism
CTD PMID:7576705 PMID:8863223, PMID:7576705 RGD:5132862 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G NPPA natriuretic peptide A EXP CTD Direct Evidence: marker/mechanism CTD PMID:11584395 NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
JBrowse link
G NR2F2 nuclear receptor subfamily 2 group F member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr15:96,326,046...96,340,263
Ensembl chr15:96,325,938...96,340,263
JBrowse link
G PAX3 paired box 3 ISO mRNA:decreased expression:heart (rat) RGD PMID:15616818 RGD:1580942 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,888...222,298,996
Ensembl chr 2:222,199,888...222,298,996
JBrowse link
G RXRA retinoid X receptor alpha ISO mRNA:increased expression:lung RGD PMID:17270546 RGD:1643107 NCBI chr 9:134,326,455...134,440,585
Ensembl chr 9:134,317,098...134,440,585
JBrowse link
G SFTPB surfactant protein B EXP CTD Direct Evidence: marker/mechanism CTD PMID:10830305 PMID:16863852 NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
JBrowse link
G SFTPC surfactant protein C EXP CTD Direct Evidence: marker/mechanism CTD PMID:10751355 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
G SLIT3 slit guidance ligand 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr 5:168,661,740...169,301,139
Ensembl chr 5:168,661,733...169,301,129
Ensembl chr 5:168,661,733...169,301,129
JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chr15:74,179,466...74,212,267
Ensembl chr15:74,179,466...74,212,267
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO
EXP
protein:increased expression:lung
CTD Direct Evidence: marker/mechanism
CTD PMID:10646786, PMID:19635314 RGD:4145129 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G THRA thyroid hormone receptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chr17:40,062,193...40,093,867
Ensembl chr17:40,058,290...40,093,867
JBrowse link
G THRB thyroid hormone receptor beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:10541330 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18958481 NCBI chr 4:41,256,928...41,268,455
Ensembl chr 4:41,256,413...41,268,455
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12759764 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
JBrowse link
G WDR26 WD repeat domain 26 IAGP ClinVar Annotator: match by term: Diaphragmatic hernia ClinVar PMID:30311386 NCBI chr 1:224,385,146...224,434,797
Ensembl chr 1:224,385,143...224,437,033
Ensembl chr 1:224,385,143...224,437,033
JBrowse link
G WT1 WT1 transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
Ensembl chr11:32,387,775...32,435,564
JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diaphragmatic hernia
CTD
ClinVar
PMID:17436238 PMID:30311386 NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539
JBrowse link
G ZFPM2-AS1 ZFPM2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Diaphragmatic hernia ClinVar PMID:30311386 NCBI chr 8:105,780,410...106,060,503
Ensembl chr 8:105,546,089...106,060,524
JBrowse link
Diaphragmatic Hernia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZFPM2 zinc finger protein, FOG family member 2 IAGP ClinVar Annotator: match by term: Diaphragmatic hernia 3 ClinVar
OMIM
PMID:14517948 PMID:16103912 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 PMID:25741868 PMID:28492532 NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539
JBrowse link
G ZFPM2-AS1 ZFPM2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Diaphragmatic hernia 3 ClinVar PMID:17568391 PMID:21919901 PMID:25741868 PMID:28492532 NCBI chr 8:105,780,410...106,060,503
Ensembl chr 8:105,546,089...106,060,524
JBrowse link
Donnai-Barrow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBRD1 LMBR1 domain containing 1 IAGP ClinVar Annotator: match by term: Donnai Barrow syndrome ClinVar PMID:19136951 PMID:25741868 PMID:28492532 NCBI chr 6:69,674,010...69,797,010
Ensembl chr 6:69,672,757...69,867,236
JBrowse link
G LRP2 LDL receptor related protein 2 IAGP ClinVar Annotator: match by term: Donnai Barrow syndrome
ClinVar Annotator: match by term: Donnai-Barrow syndrome
ClinVar
OMIM
PMID:8266995 PMID:9475100 PMID:12923867 PMID:17632512 PMID:18414213 PMID:20359920 PMID:23033978 PMID:24319098 PMID:24406863 PMID:24876117 PMID:25158045 PMID:25326635 PMID:25741868 PMID:26118977 PMID:26529358 PMID:28492532 PMID:32238909 NCBI chr 2:169,127,109...169,362,597
Ensembl chr 2:169,127,109...169,362,534
JBrowse link
Galloway-Mowat syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAGE3 L antigen family member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:154,477,769...154,479,257
Ensembl chr  X:154,477,769...154,479,257
JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase EXP CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089
JBrowse link
G 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 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 WDR4 WD repeat domain 4 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr21:42,843,075...42,891,695
Ensembl chr21:42,843,094...42,879,568
JBrowse link
G WDR73 WD repeat domain 73 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25466283 NCBI chr15:84,639,285...84,654,290
Ensembl chr15:84,639,281...84,654,343
Ensembl chr15:84,639,281...84,654,343
JBrowse link
G ZNF592 zinc finger protein 592 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr15:84,748,556...84,806,445
Ensembl chr15:84,748,592...84,806,445
JBrowse link
Galloway-Mowat syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENG endoglin IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G WDR73 WD repeat domain 73 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 OMIM
ClinVar
PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 PMID:25741868 PMID:25873735 PMID:26070982 PMID:26123727 PMID:30315938 NCBI chr15:84,639,285...84,654,290
Ensembl chr15:84,639,281...84,654,343
Ensembl chr15:84,639,281...84,654,343
JBrowse link
G ZNF592 zinc finger protein 592 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 1
ClinVar Annotator: match by term: Spinocerebellar ataxia autosomal recessive 5
ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chr15:84,748,556...84,806,445
Ensembl chr15:84,748,592...84,806,445
JBrowse link
Galloway-Mowat syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAGE3 L antigen family member 3 IAGP ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 2, X-LINKED ClinVar
OMIM
PMID:12693786 PMID:28805828 NCBI chr  X:154,477,769...154,479,257
Ensembl chr  X:154,477,769...154,479,257
JBrowse link
Galloway-Mowat syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC107372315 OSGEP/APEX1 bi-directional promoter region IAGP ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 3 ClinVar PMID:25741868 PMID:28805828 NCBI chr14:20,451,644...20,455,336 JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase IAGP ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 3 ClinVar
OMIM
PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 PMID:25741868 PMID:28272532 PMID:28805828 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP53RK TP53 regulating kinase IAGP ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 4 ClinVar
OMIM
PMID:28805828 NCBI chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444
JBrowse link
Galloway-Mowat syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TPRKB TP53RK binding protein IAGP ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 5 ClinVar
OMIM
PMID:28805828 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDR4 WD repeat domain 4 IAGP ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 6 OMIM
ClinVar
PMID:25741868 PMID:26416026 PMID:28617965 PMID:29597095 PMID:30079490 NCBI chr21:42,843,075...42,891,695
Ensembl chr21:42,843,094...42,879,568
JBrowse link
Galloway-Mowat Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NUP107 nucleoporin 107 IAGP ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 7 OMIM
ClinVar
PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:30179222 NCBI chr12:68,686,971...68,745,809
Ensembl chr12:68,686,951...68,745,809
JBrowse link
Galloway-Mowat Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NUP133 nucleoporin 133 IAGP ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 8 OMIM
ClinVar
PMID:11793129 PMID:30427554 NCBI chr 1:229,440,259...229,508,342
Ensembl chr 1:229,440,259...229,508,341
JBrowse link
hiatus hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler IAGP ClinVar Annotator: match by term: Hiatal hernia ClinVar PMID:30311386 NCBI chr  X:77,504,880...77,786,235
Ensembl chr  X:77,504,880...77,786,233
Ensembl chr  X:77,504,880...77,786,233
JBrowse link
G BARX1 BARX homeobox 1 IAGP ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr 9:93,951,627...93,955,355
Ensembl chr 9:93,951,627...93,955,355
JBrowse link
G CASR calcium sensing receptor IAGP ClinVar Annotator: match by term: Hiatal hernia ClinVar PMID:30311386 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,683...122,291,629
Ensembl chr 3:122,183,683...122,291,629
JBrowse link
G CBS cystathionine beta-synthase IAGP ClinVar Annotator: match by term: Hiatal hernia ClinVar PMID:1301198 PMID:9232191 PMID:11359213 PMID:15146473 PMID:15365998 PMID:20490928 PMID:20506325 PMID:20567906 PMID:24211323 PMID:25218699 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr21:43,053,190...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G FAM120A family with sequence similarity 120A IAGP ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr 9:93,451,685...93,566,112
Ensembl chr 9:93,451,685...93,566,112
JBrowse link
G FAM120AOS family with sequence similarity 120A opposite strand IAGP ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr 9:93,443,332...93,453,601
Ensembl chr 9:93,431,441...93,453,581
JBrowse link
G FBP1 fructose-bisphosphatase 1 IAGP ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr 9:94,603,133...94,640,263
Ensembl chr 9:94,603,133...94,640,249
JBrowse link
G FBP2 fructose-bisphosphatase 2 IAGP ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr 9:94,558,720...94,593,824
Ensembl chr 9:94,558,720...94,593,824
JBrowse link
G MFSD14B major facilitator superfamily domain containing 14B IAGP ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr 9:94,374,327...94,461,042
Ensembl chr 9:94,374,569...94,461,042
JBrowse link
G MIRLET7A1 microRNA let-7a-1 IAGP ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr 9:94,175,957...94,176,036
Ensembl chr 9:94,175,957...94,176,036
JBrowse link
G MIRLET7D microRNA let-7d IAGP ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr 9:94,178,834...94,178,920
Ensembl chr 9:94,178,834...94,178,920
JBrowse link
G MIRLET7F1 microRNA let-7f-1 IAGP ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr 9:94,176,347...94,176,433
Ensembl chr 9:94,176,347...94,176,433
JBrowse link
G MYPN myopalladin IAGP ClinVar Annotator: match by term: Hiatal hernia ClinVar PMID:30311386 NCBI chr10:68,087,907...68,212,017
Ensembl chr10:68,106,117...68,212,017
JBrowse link
G NUTM2F NUT family member 2F IAGP ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr 9:94,318,198...94,328,644
Ensembl chr 9:94,318,196...94,328,644
JBrowse link
G PHF2 PHD finger protein 2 IAGP ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr 9:93,576,584...93,679,587
Ensembl chr 9:93,576,584...93,679,587
JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP ClinVar Annotator: match by term: Hiatal hernia ClinVar PMID:30311386 NCBI chr18:10,670,237...11,149,585
Ensembl chr18:10,666,483...11,149,569
Ensembl chr18:10,666,483...11,149,569
JBrowse link
G PTCH2 patched 2 IAGP ClinVar Annotator: match by term: Hiatal hernia ClinVar PMID:30311386 NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,844...44,843,253
JBrowse link
G PTPDC1 protein tyrosine phosphatase domain containing 1 IAGP ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr 9:94,029,031...94,109,856
Ensembl chr 9:94,030,794...94,109,856
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Hiatal hernia ClinVar PMID:30311386 NCBI chr12:112,418,915...112,509,918
Ensembl chr12:112,418,351...112,509,913
Ensembl chr12:112,418,351...112,509,913
JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP ClinVar Annotator: match by term: Hiatal hernia ClinVar PMID:30311386 NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
JBrowse link
G ZNF169 zinc finger protein 169 IAGP ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr 9:94,259,298...94,303,967
Ensembl chr 9:94,259,298...94,301,829
JBrowse link
Jarcho-Levin Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLL3 delta like canonical Notch ligand 3 IAGP ClinVar Annotator: match by term: Jarcho-Levin syndrome
ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive
ClinVar
OMIM
PMID:2805381 PMID:10742114 PMID:12791036 PMID:15200511 PMID:15717203 PMID:18485326 PMID:25741868 PMID:28492532 NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481
JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 IAGP ClinVar Annotator: match by term: Jarcho-Levin syndrome ClinVar PMID:25741868 NCBI chr15:89,776,332...89,778,754
Ensembl chr15:89,760,591...89,778,754
JBrowse link
G PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 IAGP ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive ClinVar PMID:25741868 NCBI chr19:39,412,582...39,428,415
Ensembl chr19:39,412,669...39,428,415
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18952
    disease of anatomical entity 17438
      musculoskeletal system disease 6209
        muscular disease 1322
          diaphragm disease 124
            Diaphragmatic Hernia + 123
            diaphragmatic eventration + 1
Path 2
Term Annotations click to browse term
  disease 18952
    disease of anatomical entity 17438
      nervous system disease 13527
        peripheral nervous system disease 2707
          neuropathy 2525
            neuromuscular disease 1974
              muscular disease 1322
                diaphragm disease 124
                  Diaphragmatic Hernia + 123
                  diaphragmatic eventration + 1
paths to the root