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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:Diaphragmatic Hernia
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Accession:DOID:9009073 term browser browse the term
Definition:Protrusion of abdominal structures into the THORAX as a result of congenital or traumatic defects in the respiratory DIAPHRAGM.
Synonyms:exact_synonym: Diaphragmatic Hernias
 primary_id: MESH:D006548
 xref: EFO:0008561


show annotations for term's descendants           Sort by:
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 1:230,690,776...230,745,576 		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 chr12:49,961,872...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 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 		JBrowse link
G EDN1 endothelin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chr 6:12,230,516...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 chr13:77,895,487...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 7:74,028,173...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 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...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 chr20:22,580,998...22,585,455 		JBrowse link
G GATA4 GATA binding protein 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G GATA6 GATA binding protein 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI 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 chr12:102,395,874...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 chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18500730 NCBI chr 7:22,727,200...22,731,998
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...110,631,440
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...49,483,362
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...77,637,808
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...169,362,534
Ensembl chr 2:169,127,109...169,362,534 		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
RGD		 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
RGD		 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 2:222,199,887...222,298,998 		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 5:168,661,740...169,301,139 		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...74,212,259
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
RGD		 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 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 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539 		JBrowse link
Anterior Diaphragmatic Hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLS3 plastin 3 IAGP ClinVar Annotator: match by term: PLS3-related condition
ClinVar Annotator: match by term: Hernia, anterior diaphragmatic		 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:37751738 NCBI chr  X:115,561,174...115,650,861
Ensembl chr  X:115,561,174...115,650,861 		JBrowse link
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:77,910,690...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 		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 chr17:34,255,274...34,257,208 		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 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 More... NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G ELN elastin ISO mRNA,protein:increased expression:lung: RGD PMID:12194112 RGD:9585688 NCBI chr 7:74,028,173...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 chr22:41,092,510...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 chr15:48,408,313...48,645,721 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital diaphragmatic hernia		 CTD
ClinVar		 PMID:20938900 PMID:25741868 PMID:28492532 PMID:33443296 NCBI chr 4:1,010,212...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 Annotator: match by term: Agenesis of hemidiaphragm		 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
ISS
EXP
ISO		 DNA:deletion, frame shift:cds, splice junction:
OMIM:142340 | OMIM:222400 | OMIM:610187
ClinVar Annotator: match by term: Agenesis of hemidiaphragm
CTD Direct Evidence: marker/mechanism
mRNA,protein:decreased expression:diaphragm:		 MouseDO
ClinVar
CTD
RGD		 PMID:23221805 PMID:23806086 PMID:24088041 PMID:25736269 PMID:25741868 More... RGD:11554181, RGD:11554195, RGD:11554181 NCBI chr 9:14,737,152...14,910,995
Ensembl chr 9:14,737,152...14,910,995 		JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 IAGP ClinVar Annotator: match by term: Agenesis of hemidiaphragm
ClinVar Annotator: match by term: Congenital diaphragmatic hernia		 ClinVar PMID:25741868 PMID:28492532 PMID:30143558 NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131 		JBrowse link
G GATA4 GATA binding protein 4 EXP
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:142340 | OMIM:222400 | OMIM:610187		 CTD
MouseDO		 PMID:23426975 NCBI chr 8:11,676,935...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: Agenesis of hemidiaphragm
ClinVar Annotator: match by term: DIH		 ClinVar
RGD		 PMID:22158542 PMID:24385578 PMID:25741868 PMID:18280291 RGD:9068407 NCBI 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...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A ISO mRNA, protein:increased expression:lung RGD PMID:24888825 RGD:401901089 NCBI chr13:46,831,546...46,898,082
Ensembl chr13:46,831,546...46,897,076 		JBrowse link
G IGF1 insulin like growth factor 1 ISO mRNA:decreased expression:heart (rat) RGD PMID:11409163 RGD:12904929 NCBI chr12:102,395,874...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 chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		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 		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 chr19:7,112,265...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 6:72,622,064...73,198,853
Ensembl chr 6:72,621,792...73,198,853 		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
RGD		 PMID:25921351 RGD:11553839 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G LCN2 lipocalin 2 ISO
IEP		 mRNA:decreased expression:lung
protein:decreased expression:amniotic fluid		 RGD PMID:27592368 PMID:27592368 RGD:126790533, RGD:126790533 NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453 		JBrowse link
G LOC126861898 BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808 IAGP ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:12707239 PMID:17125710 PMID:18076673 PMID:20394946 PMID:20800588 More... NCBI chr14:23,424,400...23,425,599 JBrowse link
G LRP1 LDL receptor related protein 1 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr12:57,128,483...57,213,361
Ensembl chr12:57,128,483...57,213,361 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 More... 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: Agenesis of hemidiaphragm ClinVar PMID:14559814 PMID:21970370 PMID:22703879 PMID:23806086 PMID:24088041 More... NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377 		JBrowse link
G MN1 MN1 proto-oncogene, transcriptional regulator IAGP ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868 PMID:31834374 NCBI chr22:27,748,277...27,801,756
Ensembl chr22:27,748,277...27,801,756 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:12707239 PMID:17125710 PMID:18076673 PMID:20394946 PMID:20800588 More... NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYO15A myosin XVA IAGP ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:24033266 PMID:25741868 PMID:26445815 PMID:27375115 PMID:28492532 NCBI chr17:18,108,756...18,179,800
Ensembl chr17:18,108,756...18,179,802 		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 MYRF myelin regulatory factor IAGP DNA:mutations:multiple:
ClinVar Annotator: match by term: Agenesis of hemidiaphragm		 ClinVar
RGD		 PMID:25741868 PMID:30532227 PMID:30532227 RGD:200226345 NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518 		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 More... NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245 		JBrowse link
G PGAP3 post-GPI attachment to proteins phospholipase 3 IAGP ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868 PMID:30345601 NCBI chr17:39,671,122...39,688,057
Ensembl chr17:39,671,122...39,696,797 		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 PLS3 plastin 3 ISS
IAGP		 OMIM:142340 | OMIM:222400 | OMIM:610187
ClinVar Annotator: match by term: Congenital diaphragmatic hernia		 MouseDO
ClinVar		 PMID:25741868 PMID:37751738 NCBI chr  X:115,561,174...115,650,861
Ensembl chr  X:115,561,174...115,650,861 		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 3:49,359,139...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 SFTPA1 surfactant protein A1 treatment ISO RGD PMID:11051153 RGD:151667435 NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455 		JBrowse link
G SFTPB surfactant protein B treatment ISO RGD PMID:11051153 RGD:151667435 NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741 		JBrowse link
G SLC6A4 solute carrier family 6 member 4 ISO protein:increased expression:lung RGD PMID:24888825 RGD:401901089 NCBI chr17:30,194,319...30,235,697
Ensembl chr17:30,194,319...30,236,002 		JBrowse link
G SLIT2 slit guidance ligand 2 ISO mRNA:increased expression:lung RGD PMID:19944214 RGD:243048459 NCBI chr 4:20,251,905...20,620,561
Ensembl chr 4:20,251,905...20,620,561 		JBrowse link
G SLIT3 slit guidance ligand 3 ISS
ISO		 OMIM:142340 | OMIM:222400 | OMIM:610187
mRNA:increased expression:lung		 MouseDO
RGD		 PMID:19944214 RGD:243048459 NCBI chr 5:168,661,740...169,301,139
Ensembl chr 5:168,661,740...169,301,139 		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 chr21:31,659,666...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 		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...42,388,442
Ensembl chr17:42,313,324...42,388,568 		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 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
G WNT11 Wnt family member 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr11:76,186,325...76,210,761
Ensembl chr11:76,186,325...76,210,736 		JBrowse link
G WT1 WT1 transcription factor EXP
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:142340 | OMIM:222400 | OMIM:610187		 CTD
MouseDO		 PMID:21072664 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539 		JBrowse link
Diaphragmatic Hernia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126860469 BRD4-independent group 4 enhancer GRCh37_chr8:106814445-106815644 IAGP ClinVar Annotator: match by term: Diaphragmatic hernia 3 ClinVar PMID:17568391 PMID:25741868 PMID:28492532 NCBI chr 8:105,802,217...105,803,416 JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 IAGP
EXP		 ClinVar Annotator: match by term: Diaphragmatic hernia 3
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:14517948 PMID:16103912 PMID:17568391 PMID:20807224 PMID:21919901 More... 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 PMID:33461977 NCBI chr 8:105,780,410...106,060,503
Ensembl chr 8:105,546,089...106,060,524 		JBrowse link
Diaphragmatic Hernia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH1A2 aldehyde dehydrogenase 1 family member A2 IAGP ClinVar Annotator: match by term: ALDH1A2-related condition | ClinVar Annotator: match by term: Diaphragmatic hernia 4, with cardiovascular defects OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33565183 NCBI chr15:57,953,429...58,065,711
Ensembl chr15:57,953,424...58,497,866 		JBrowse link
G ALDH1A2-AS1 ALDH1A2 antisense RNA 1 IAGP ClinVar Annotator: match by term: ALDH1A2-related condition ClinVar NCBI chr15:58,065,225...58,072,705
Ensembl chr15:58,065,225...58,071,043 		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
ISS
EXP		 ClinVar Annotator: match by term: Donnai-Barrow syndrome
ClinVar Annotator: match by term: Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria | ClinVar Annotator: match by term: Donnai-Barrow syndrome | ClinVar Annotator: match by term: LRP2-related condition
ClinVar Annotator: match by term: Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria | ClinVar Annotator: match by term: LRP2-related condition
OMIM:222448
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:8266995 PMID:9475100 PMID:9536098 PMID:12923867 PMID:16199547 More... NCBI chr 2:169,127,109...169,362,534
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 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 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 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 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 chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568 		JBrowse link
G WDR73 WD repeat domain 73 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Galloway-Mowat syndrome		 CTD
ClinVar		 PMID:25466283 PMID:25741868 NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343 		JBrowse link
G 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 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 More... NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773 		JBrowse link
G WDR73 WD repeat domain 73 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 1
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 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1orf122 chromosome 1 open reading frame 122 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 10
ClinVar Annotator: match by term: YRDC-related condition		 ClinVar PMID:28492532 PMID:31481669 NCBI chr 1:37,807,790...37,809,454
Ensembl chr 1:37,806,979...37,809,454 		JBrowse link
G LOC129930167 ATAC-STARR-seq lymphoblastoid silent region 680 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 ClinVar PMID:31481669 NCBI chr 1:37,807,858...37,808,117 JBrowse link
G YRDC yrdC N6-threonylcarbamoyltransferase domain containing IAGP ClinVar Annotator: match by term: YRDC-related condition
ClinVar Annotator: match by term: Galloway-Mowat syndrome 10		 OMIM
ClinVar		 PMID:28492532 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 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 Annotator: match by term: LAGE3-related condition		 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 LOC130068876 ATAC-STARR-seq lymphoblastoid silent region 21109 IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked
ClinVar Annotator: match by term: LAGE3-related condition		 ClinVar PMID:25741868 PMID:28492532 PMID:28805828 NCBI chr  X:154,478,675...154,478,894 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 Annotator: match by term: OSGEP-related condition		 ClinVar PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 PMID:33532864 More... NCBI chr14:20,451,644...20,455,489 JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 3
ClinVar Annotator: match by term: OSGEP-related condition
ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 | ClinVar Annotator: match by term: OSGEP-related condition		 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130065998 ATAC-STARR-seq lymphoblastoid active region 17978 IAGP ClinVar Annotator: match by term: TP53RK-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr20:46,689,303...46,689,892 JBrowse link
G TP53RK TP53 regulating kinase IAGP ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 | ClinVar Annotator: match by term: TP53RK-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 PMID:36873107 NCBI chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444 		JBrowse link
G TP53RK-DT TP53RK divergent transcript IAGP ClinVar Annotator: match by term: TP53RK-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr20:46,689,299...46,690,289 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: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 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: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 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: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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129932732 ATAC-STARR-seq lymphoblastoid silent region 1931 IAGP ClinVar Annotator: match by term: NUP133-related condition ClinVar PMID:28492532 NCBI chr 1:229,508,032...229,508,261 JBrowse link
G NUP133 nucleoporin 133 IAGP ClinVar Annotator: match by term: NUP133-related condition
ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 | ClinVar Annotator: match by term: NUP133-related condition		 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
hiatus hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 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 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 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 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 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 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 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 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 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 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 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 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...94,303,967 		JBrowse link
spondylocostal dysostosis 1 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: Spondylocostal dysostosis 1, autosomal recessive
ClinVar Annotator: match by term: DLL3-related disorder | ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive		 ClinVar
OMIM		 PMID:2805381 PMID:10742114 PMID:12746394 PMID:12791036 PMID:15200511 More... NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481 		JBrowse link
G LOC130057891 ATAC-STARR-seq lymphoblastoid silent region 6806 IAGP ClinVar Annotator: match by term: Spondylothoracic Dysostosis ClinVar PMID:28492532 NCBI chr15:89,776,596...89,776,755 JBrowse link
G LOC130064417 ATAC-STARR-seq lymphoblastoid silent region 10608 IAGP ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive
ClinVar Annotator: match by term: DLL3-related disorder
ClinVar Annotator: match by term: DLL3-related disorder | ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive		 ClinVar PMID:12746394 PMID:12791036 PMID:25741868 PMID:28492532 NCBI chr19:39,502,718...39,503,097 JBrowse link
G LOC130064418 ATAC-STARR-seq lymphoblastoid silent region 10609 IAGP ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive ClinVar PMID:12791036 PMID:25741868 NCBI chr19:39,507,141...39,507,240 JBrowse link
G LOC130064419 ATAC-STARR-seq lymphoblastoid silent region 10610 IAGP ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive
ClinVar Annotator: match by term: DLL3-related disorder | ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive		 ClinVar PMID:15200511 PMID:25741868 PMID:28492532 NCBI chr19:39,507,421...39,507,570 JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 IAGP ClinVar Annotator: match by term: Spondylothoracic Dysostosis ClinVar PMID:25741868 PMID:28492532 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 PMID:28492532 NCBI chr19:39,412,669...39,428,415
Ensembl chr19:39,412,669...39,428,415 		JBrowse link
G RIPPLY2 ripply transcriptional repressor 2 IAGP ClinVar Annotator: match by term: Spondylothoracic Dysostosis ClinVar PMID:25343988 PMID:28492532 NCBI chr 6:83,853,229...83,857,515
Ensembl chr 6:83,853,360...83,857,515 		JBrowse link
G RIPPLY2-CYB5R4 RIPPLY2-CYB5R4 readthrough IAGP ClinVar Annotator: match by term: Spondylothoracic Dysostosis ClinVar PMID:25343988 PMID:28492532 NCBI chr 6:83,853,360...83,967,423 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 112207
    Pathological Conditions, Signs and Symptoms 63852
      Anatomical Pathological Conditions 4405
        enterocele 309
          Diaphragmatic Hernia 155
            Complete Agenesis of Diaphragm 0
            Diaphragmatic Hernia, Traumatic 0
            Fryns Syndrome 0
            congenital diaphragmatic hernia + 71
            hiatus hernia + 32
            spondylocostal dysostosis 1 9
Path 2
Term Annotations click to browse term
  disease 112207
    disease of anatomical entity 104973
      Urogenital Diseases 13584
        Female Urogenital Diseases and Pregnancy Complications 5986
          Female Urogenital Diseases 4955
            female reproductive system disease 4952
              prolapse of female genital organ 309
                enterocele 309
                  Diaphragmatic Hernia 155
                    Complete Agenesis of Diaphragm 0
                    Diaphragmatic Hernia, Traumatic 0
                    Fryns Syndrome 0
                    congenital diaphragmatic hernia + 71
                    hiatus hernia + 32
                    spondylocostal dysostosis 1 9
paths to the root