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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:enterocele
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Accession:DOID:1283 term browser browse the term
Definition:Protrusion of tissue, structure, or part of an organ through the bone, muscular tissue, or the membrane by which it is normally contained. Hernia may involve tissues such as the ABDOMINAL WALL or the respiratory DIAPHRAGM. Hernias may be internal, external, congenital, or acquired.
Synonyms:exact_synonym: hernia;   hernias
 narrow_synonym: vaginal enterocele
 primary_id: MESH:D006547
 alt_id: RDO:0000904
 xref: ICD10CM:K46;   ICD10CM:N81.5;   ICD9CM:618.6
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
enterocele term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 ISO DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) RGD PMID:26320891 RGD:13434923 NCBI chr14:107,174,062...107,221,373
Ensembl chr14:107,170,689...107,221,215
JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 ISO RGD PMID:17872905 RGD:10401789 NCBI chr 3:85,407,677...85,473,251
Ensembl chr 3:85,268,311...85,473,254
JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXC1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805
JBrowse link
G PAX6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,971,567...29,001,200
JBrowse link
G PITX2 paired like homeodomain 2 ISO OMIM NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,664...111,723,298
JBrowse link
G PRDM5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 8:103,188,312...103,383,955
Ensembl chr 8:103,097,397...103,382,115
JBrowse link
caudal regression syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASQ2 calsequestrin 2 ISO ClinVar Annotator: match by term: Caudal dysgenesis syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532 NCBI chr 4:104,918,204...104,984,019
Ensembl chr 4:104,918,501...104,999,787
JBrowse link
G CDX2 caudal type homeobox 2 ISO ClinVar Annotator: match by term: Sirenomelia ClinVar PMID:25741868 NCBI chr11:5,339,727...5,346,081
Ensembl chr11:5,339,716...5,346,057
JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:228,854,587...229,308,054
Ensembl chr 1:228,854,595...229,308,906
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Agenesis of sacrum ClinVar PMID:18564 PMID:9497245 PMID:10484775 PMID:11575529 PMID:12059893 More... NCBI chr 6:47,339,759...47,458,457 JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 ISO OMIM NCBI chr 4:104,994,341...105,048,853
Ensembl chr 4:104,998,532...105,048,853
JBrowse link
G ZBTB16 zinc finger and BTB domain containing 16 ISO RGD PMID:27727328 RGD:40924666 NCBI chr 9:41,639,536...41,839,254
Ensembl chr 9:41,639,701...41,836,742
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 (peptidyl-dipeptidase A) 1 ISO protein:increased activity:lung (rat) RGD PMID:9498404 RGD:12859277 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:22113494 RGD:6903875 NCBI chr  X:95,267,709...95,272,237
Ensembl chr  X:95,269,300...95,270,388
JBrowse link
G ATP7A ATPase copper transporting alpha ISO mRNA, protein:decreased expression:diaphragm (rat) RGD PMID:25319798 RGD:11341670 NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,874...62,110,058
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO mRNA:decreased expression:heart: RGD PMID:18280291 RGD:9068407 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,134...183,792,417
JBrowse link
G CBL Cbl proto-oncogene ISO mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: RGD PMID:23143077 RGD:11038813 NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,404,999...46,512,834
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30418988 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20939759 PMID:21258935 NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,673,798...31,677,696
JBrowse link
G CDK8 cyclin dependent kinase 8 ISO ClinVar Annotator: match by term: DIH ClinVar PMID:25741868 NCBI chr11:4,054,442...4,161,501
Ensembl chr11:4,054,209...4,181,093
JBrowse link
G DES desmin ISO 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 chr15:121,428,539...121,435,426
Ensembl chr15:121,427,103...121,435,424
JBrowse link
G ELN elastin ISO mRNA,protein:increased expression:lung: RGD PMID:12194112 RGD:9585688 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,073...11,244,897
JBrowse link
G EP300 E1A binding protein p300 ISO mRNA:decreased expression:lung RGD PMID:24488106 RGD:9588310 NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760
JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27880037 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:23806086 PMID:24088041 PMID:25736269 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649
JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
CTD
ClinVar
PMID:20938900 PMID:25741868 NCBI chr 8:365,367...378,384
Ensembl chr 8:365,181...378,381
JBrowse link
G FOXC2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr 6:2,552,141...2,555,041
Ensembl chr 6:2,552,862...2,554,367
JBrowse link
G FOXF1 forkhead box F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr 6:2,579,348...2,598,122
Ensembl chr 6:2,592,993...2,597,659
JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:73,502,368...73,959,454
Ensembl chr 8:73,502,664...73,958,083
JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Agenesis of hemidiaphragm
DNA:deletion, frame shift:cds, splice junction:
mRNA,protein:decreased expression:diaphragm:
CTD
ClinVar
RGD
PMID:23221805 PMID:23806086 PMID:24088041 PMID:25073507 PMID:25736269 More... RGD:11554181 RGD:11554195 NCBI chr 1:207,535,811...207,804,525
Ensembl chr 1:207,640,839...207,801,952
JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 NCBI chr11:13,775,267...14,116,377
Ensembl chr11:13,959,865...14,154,246
JBrowse link
G GATA4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23426975 NCBI chr14:14,858,470...14,938,156
Ensembl chr14:14,858,159...14,939,941
JBrowse link
G GATA6 GATA binding protein 6 ISO mRNA:decreased expression:heart (rat)
ClinVar Annotator: match by term: DIH
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
RGD
ClinVar
PMID:18280291 PMID:22158542 PMID:24385578 RGD:9068407 NCBI chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,847...107,314,634
JBrowse link
G GLI3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr18:52,403,463...52,697,906
Ensembl chr18:52,404,071...52,697,903
JBrowse link
G IGF1 insulin like growth factor 1 ISO mRNA:decreased expression:heart (rat) RGD PMID:11409163 RGD:12904929 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,925...137,690,666
JBrowse link
G IGF2 insulin like growth factor 2 treatment ISO RGD PMID:24352370 RGD:10402563 NCBI chr 2:1,469,183...1,496,417 JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr 1:7,369,485...7,472,480
Ensembl chr 1:7,368,103...7,472,548
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO RGD PMID:19844724 RGD:10402761 NCBI chr18:50,002,921...50,009,425 JBrowse link
G IGFBP5 insulin like growth factor binding protein 5 ISO RGD PMID:19844724 RGD:10402761 NCBI chr15:118,861,816...118,877,787
Ensembl chr15:118,857,479...118,878,522
JBrowse link
G INSR insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21433279 NCBI chr 2:71,797,209...71,939,923
Ensembl chr 2:71,797,204...71,936,139
JBrowse link
G KCNQ5 potassium voltage-gated channel subfamily Q member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28189443 NCBI chr 1:52,435,332...52,939,705
Ensembl chr 1:52,435,434...52,939,824
JBrowse link
G KIF7 kinesin family member 7 ISO mRNA,protein:decreased expression:diaphragmatic mesenchyme, pulmonary mesenchyme; RGD PMID:25921351 RGD:11553839 NCBI chr 7:55,200,591...55,220,237
Ensembl chr 7:55,200,593...55,220,497
JBrowse link
G LCN2 lipocalin 2 ISO protein:decreased expression:amniotic fluid
mRNA:decreased expression:lung
RGD PMID:27592368 RGD:126790533 NCBI chr 1:268,609,975...268,614,651 JBrowse link
G LZTR1 leucine zipper like transcription regulator 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,569,746...50,589,787
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:1104268 PMID:14559814 PMID:17483355 PMID:21970370 PMID:22703879 More... NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,044...29,541,512
JBrowse link
G MN1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: DIH ClinVar PMID:25741868 PMID:31834374 NCBI chr14:45,093,660...45,142,476
Ensembl chr14:45,096,485...45,140,570
JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:12707239 PMID:17125710 PMID:18076673 PMID:20394946 PMID:20800588 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,650,445...75,709,232
JBrowse link
G MYOD1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258934 NCBI chr 2:41,422,522...41,424,236
Ensembl chr 2:41,415,735...41,425,234
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:decreased expression:pulmonary artery (rat) RGD PMID:29216632 RGD:13504720 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G PAX3 paired box 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:8589691 PMID:8863157 PMID:9584079 PMID:9856573 PMID:23806086 More... NCBI chr15:124,093,803...124,193,041
Ensembl chr15:124,095,224...124,193,011
JBrowse link
G PIM1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr 7:32,788,246...32,793,882
Ensembl chr 7:32,788,005...32,793,880
JBrowse link
G RHOA ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr13:31,918,484...31,991,207
Ensembl chr13:31,918,836...32,003,722
JBrowse link
G ROBO4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr 9:52,083,757...52,097,784
Ensembl chr 9:52,083,008...52,097,744
JBrowse link
G SOD1 superoxide dismutase 1 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,749
JBrowse link
G SOD2 superoxide dismutase 2 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,993
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:10541330 RGD:12904053 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:decreased expression:lung: RGD PMID:15879288 RGD:7421593 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link
G WNT11 Wnt family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr 9:10,413,182...10,435,158
Ensembl chr 9:10,413,187...10,435,100
JBrowse link
G WT1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21072664 NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,794...28,456,003
JBrowse link
Diaphragmatic Hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGT angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292651 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,672,428
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292651 NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,131
JBrowse link
G AQP5 aquaporin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17245593 PMID:17270560 NCBI chr 5:15,876,527...15,879,608
Ensembl chr 5:15,876,407...15,880,067
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,134...183,792,417
JBrowse link
G CFTR CF transmembrane conductance regulator ISO CTD Direct Evidence: therapeutic CTD PMID:16473863 NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
JBrowse link
G EDN1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
JBrowse link
G EDNRA endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chr 8:81,210,750...81,279,053
Ensembl chr 8:81,209,327...81,276,853
JBrowse link
G EDNRB endothelin receptor type B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10693666 NCBI chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884
JBrowse link
G ELN elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:10359170 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,073...11,244,897
JBrowse link
G FGF18 fibroblast growth factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303798 NCBI chr16:52,724,867...52,760,246
Ensembl chr16:52,725,356...52,760,236
JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10646786 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,878...101,343,916
JBrowse link
G FOXA2 forkhead box A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16863852 NCBI chr17:29,997,397...30,001,704
Ensembl chr17:29,997,400...30,001,707
JBrowse link
G GATA4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr14:14,858,470...14,938,156
Ensembl chr14:14,858,159...14,939,941
JBrowse link
G GATA6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,847...107,314,634
JBrowse link
G GJA1 gap junction protein alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292552 PMID:16720372 NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,515...41,002,137
JBrowse link
G HOXA5 homeobox A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chr18:45,429,691...45,432,723
Ensembl chr18:45,421,663...45,432,885
JBrowse link
G HOXB3 homeobox B3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chr12:24,803,119...24,827,557
Ensembl chr12:24,804,647...24,806,783
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12759764 PMID:17245593 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G IGF1 insulin like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
JBrowse link
G IGF2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chr 2:1,469,183...1,496,417 JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18500730 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G KCNA2 potassium voltage-gated channel subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr 4:109,534,923...109,570,172
Ensembl chr 4:109,557,377...109,560,998
JBrowse link
G KCNB1 potassium voltage-gated channel subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr17:51,032,163...51,152,566
Ensembl chr17:51,039,956...51,144,696
JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr14:79,345,382...80,106,337
Ensembl chr14:79,352,396...80,106,258
JBrowse link
G LRP2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chr15:75,565,299...75,754,604
Ensembl chr15:75,565,301...75,716,694
JBrowse link
G MYOD1 myogenic differentiation 1 ISO mRNA:decreased expression:diaphragm RGD PMID:21258934 RGD:9686080 NCBI chr 2:41,422,522...41,424,236
Ensembl chr 2:41,415,735...41,425,234
JBrowse link
G NKX2-1 NK2 homeobox 1 ISO CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:lung
CTD
RGD
PMID:10830305 PMID:16863852 PMID:17245593 RGD:1600158 NCBI chr 7:63,487,200...63,491,580
Ensembl chr 7:63,487,807...63,491,575
JBrowse link
G NOS3 nitric oxide synthase 3 ISO mRNA, protein:decreased expression:lung
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:7576705 PMID:8863223 RGD:5132862 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G NPPA natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11584395 NCBI chr 6:71,919,557...71,921,345
Ensembl chr 6:71,919,495...71,932,254
JBrowse link
G NR2F2 nuclear receptor subfamily 2 group F member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr 7:83,076,119...83,090,250
Ensembl chr 7:83,076,144...83,090,536
JBrowse link
G PAX3 paired box 3 ISO mRNA:decreased expression:heart (rat) RGD PMID:15616818 RGD:1580942 NCBI chr15:124,093,803...124,193,041
Ensembl chr15:124,095,224...124,193,011
JBrowse link
G RXRA retinoid X receptor alpha ISO mRNA:increased expression:lung RGD PMID:17270546 RGD:1643107 NCBI chr 1:273,698,842...273,797,622
Ensembl chr 1:273,705,503...273,797,622
JBrowse link
G SFTPB surfactant protein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10830305 PMID:16863852 NCBI chr 3:59,101,940...59,113,442
Ensembl chr 3:59,101,952...59,111,834
JBrowse link
G SFTPC surfactant protein C ISO CTD Direct Evidence: marker/mechanism CTD PMID:10751355 NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095
JBrowse link
G SLIT3 slit guidance ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr16:54,551,536...55,221,427
Ensembl chr16:54,553,933...55,220,310
JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chr 7:59,317,930...59,347,274
Ensembl chr 7:59,318,010...59,347,267
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO protein:increased expression:lung
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10646786 PMID:19635314 RGD:4145129 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G THRA thyroid hormone receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chr12:22,270,506...22,296,684
Ensembl chr12:22,270,062...22,296,618
JBrowse link
G THRB thyroid hormone receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chr13:10,900,716...11,360,587
Ensembl chr13:10,900,718...11,359,544
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10541330 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18958481 NCBI chr 8:32,353,766...32,367,288
Ensembl chr 8:32,353,246...32,367,323
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12759764 NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,908...117,511,226
JBrowse link
G WT1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,794...28,456,003
JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr 4:31,607,968...31,996,226
Ensembl chr 4:31,606,751...32,094,340
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 ISO OMIM NCBI chr 4:31,607,968...31,996,226
Ensembl chr 4:31,606,751...32,094,340
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 ISO ClinVar Annotator: match by term: Donnai Barrow syndrome ClinVar PMID:19136951 PMID:25741868 PMID:28492532 NCBI chr 1:49,869,184...49,977,984
Ensembl chr 1:49,868,604...49,977,965
JBrowse link
G LRP2 LDL receptor related protein 2 ISO OMIM NCBI chr15:75,565,299...75,754,604
Ensembl chr15:75,565,301...75,716,694
JBrowse link
Encephalocele term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CC2D2A coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Encephalocele ClinVar PMID:25741868 PMID:26862157 PMID:31680349 NCBI chr 8:10,779,206...10,898,189
Ensembl chr 8:10,779,332...10,898,193
JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Occipital encephalocele
ClinVar Annotator: match by term: Encephalocele
ClinVar PMID:16909394 PMID:17345604 PMID:17564974 PMID:17705300 PMID:20683928 More... NCBI chr 5:94,384,397...94,474,337
Ensembl chr 5:94,384,414...94,475,057
JBrowse link
G DNAI3 dynein axonemal intermediate chain 3 ISO ClinVar Annotator: match by term: Occipital encephalocele ClinVar PMID:29285825 NCBI chr 4:130,765,580...130,826,828
Ensembl chr 4:130,765,354...130,826,630
JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Cephalocele ClinVar PMID:25741868 PMID:26167768 PMID:30858804 PMID:31474318 NCBI chr11:45,076,046...45,362,708
Ensembl chr11:45,076,061...45,362,891
JBrowse link
G RPGRIP1L RPGRIP1 like ISO associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr 6:31,564,937...31,660,540
Ensembl chr 6:31,564,986...31,661,194
JBrowse link
G SZT2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Encephalocele ClinVar PMID:23932106 PMID:25741868 PMID:28492532 PMID:31680349 NCBI chr 6:167,811,589...167,861,321
Ensembl chr 6:167,811,594...167,861,307
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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:125,001,673...125,003,206 JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 7:78,454,667...78,462,260
Ensembl chr 7:78,454,666...78,462,260
JBrowse link
G TP53RK TP53 regulating kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr17:48,814,402...48,817,984
Ensembl chr17:48,743,623...48,817,825
JBrowse link
G TPRKB TP53RK binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 3:69,235,111...69,243,709
Ensembl chr 3:69,236,352...69,243,914
JBrowse link
G 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 chr13:206,074,943...206,094,297
JBrowse link
G 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 7:52,887,495...52,904,149
JBrowse link
G 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 7:52,546,406...52,793,927
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 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 1:268,306,120...268,343,827
JBrowse link
G WDR73 WD repeat domain 73 ISO OMIM NCBI chr 7:52,887,468...52,904,147
Ensembl chr 7:52,887,495...52,904,149
JBrowse link
G ZNF592 zinc finger protein 592 ISO 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 chr 7:52,731,690...52,793,950
Ensembl chr 7:52,546,406...52,793,927
JBrowse link
Galloway-Mowat Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 6:93,833,759...93,834,920
JBrowse link
G YRDC yrdC N6-threonylcarbamoyltransferase domain containing ISO OMIM NCBI chr 6:93,829,320...93,833,776
Ensembl chr 6:93,829,319...93,833,667
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 ISO OMIM NCBI chr  X:125,001,673...125,003,206 JBrowse link
Galloway-Mowat syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OSGEP O-sialoglycoprotein endopeptidase ISO OMIM NCBI chr 7:78,454,667...78,462,260
Ensembl chr 7:78,454,666...78,462,260
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 ISO OMIM NCBI chr17:48,814,402...48,817,984
Ensembl chr17:48,743,623...48,817,825
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 ISO OMIM NCBI chr 3:69,235,111...69,243,709
Ensembl chr 3:69,236,352...69,243,914
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 ISO OMIM NCBI chr13:206,074,943...206,094,713
Ensembl chr13:206,074,943...206,094,297
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 ISO OMIM NCBI chr 5:32,989,661...33,040,565
Ensembl chr 5:32,989,794...33,042,575
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 ISO OMIM NCBI chr14:60,353,420...60,404,952
Ensembl chr14:60,353,466...60,408,828
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 ISO OMIM NCBI chr 7:114,586,306...114,590,804 JBrowse link
gastroschisis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADD1 adducin 1 ISO DNA:SNP: :p.G460W (human) RGD PMID:17051589 RGD:5148000 NCBI chr 8:1,627,146...1,710,653
Ensembl chr 8:1,627,177...1,710,661
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO protein:increased expression:liver, intestine (rat) RGD PMID:23381816 RGD:12904922 NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,925...137,690,666
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase severity ISO protein:decreased expression:intestine: RGD PMID:15486901 RGD:12910745 NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,735
JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased expression:intestine (rat) RGD PMID:21960425 RGD:5508749 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,944...44,327,111
JBrowse link
Hernia, Ventral term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain treatment ISO RGD PMID:26578432 RGD:11041579 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G COL3A1 collagen type III alpha 1 chain treatment ISO RGD PMID:26578432 RGD:11041579 NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,556,912...93,615,815
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 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr 3:43,284,609...43,288,269
Ensembl chr 3:43,284,611...43,288,103
JBrowse link
G FAM120A family with sequence similarity 120A ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr 3:42,861,594...42,974,874
Ensembl chr 3:42,861,410...42,974,463
JBrowse link
G FBP1 fructose-bisphosphatase 1 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr10:27,588,609...27,622,225
Ensembl chr10:27,588,582...27,623,077
JBrowse link
G FBP2 fructose-bisphosphatase 2 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr10:27,631,833...27,661,704
Ensembl chr10:27,631,496...27,665,305
JBrowse link
G MFSD14B major facilitator superfamily domain containing 14B ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr10:38,835,365...38,889,403
Ensembl chr10:38,834,125...38,889,457
JBrowse link
G MIRLET7A-2 microRNA let-7a-2 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr 3:43,465,667...43,465,758
Ensembl chr 3:43,465,667...43,465,758
JBrowse link
G MIRLET7D microRNA let-7d ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr 3:43,468,501...43,468,596
Ensembl chr 3:43,468,501...43,468,596
JBrowse link
G MIRLET7F-2 microRNA let-7f-2 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr 3:43,466,034...43,466,130
Ensembl chr 3:43,466,027...43,466,133
JBrowse link
G PHF2 PHD finger protein 2 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr 3:42,988,607...43,078,811
Ensembl chr 3:42,988,634...43,078,813
JBrowse link
G PTPDC1 protein tyrosine phosphatase domain containing 1 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr 3:43,321,391...43,418,788
Ensembl chr 3:43,321,465...43,451,510
JBrowse link
G ZNF169 zinc finger protein 169 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr 3:43,503,225...43,561,299
Ensembl chr 3:43,504,685...43,561,290
JBrowse link
inguinal hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTL6A actin like 6A ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:25741868 PMID:28649782 NCBI chr13:117,598,415...117,627,311
Ensembl chr13:117,598,493...117,628,493
JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:25741868 NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,426
JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,171...43,754,176
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16885183 NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,491...16,878,165
JBrowse link
Intervertebral Disc Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPN asporin ISO OMIM NCBI chr 3:42,165,553...42,192,902
Ensembl chr 3:42,165,553...42,192,813
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO mRNA,protein:increased expression:neuron,macrophage: RGD PMID:24462503 RGD:8661788 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,251,959...29,376,346
JBrowse link
G CILP cartilage intermediate layer protein ISO OMIM NCBI chr 1:163,236,864...163,271,222
Ensembl chr 1:163,237,100...163,271,164
JBrowse link
G COL11A1 collagen type XI alpha 1 chain ISO OMIM NCBI chr 4:115,638,381...115,841,679
Ensembl chr 4:115,540,950...115,840,708
JBrowse link
G COL1A1 collagen type I alpha 1 chain no_association ISO DNA:insertion
DNA:polymorphism
RGD PMID:15994869 PMID:18694864 RGD:5688295 RGD:5688297 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G COL9A3 collagen type IX alpha 3 chain ISO OMIM NCBI chr17:62,074,108...62,094,228
Ensembl chr17:62,075,125...62,093,540
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:dorsal root ganglion, neuron, cytoplasm (rat) RGD PMID:21243740 RGD:9068928 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,181...190,674,850
JBrowse link
G MIR155 microRNA mir-155 treatment ISO miRNA:decreased expression:nucleus pulposus RGD PMID:27227700 RGD:24922221 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
JBrowse link
G THBS2 thrombospondin 2 ISO OMIM NCBI chr 1:854,473...882,467
Ensembl chr 1:855,030...882,473
JBrowse link
Intervertebral Disc Displacement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 disease_progression ISO RGD PMID:21590431 RGD:5509092
G APOA4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:16372267 RGD:5685665 NCBI chr 9:44,201,587...44,204,072
Ensembl chr 9:44,201,508...44,204,206
JBrowse link
G BDNF brain derived neurotrophic factor ISO protein:increased expression:dorsal root ganglion: RGD PMID:14615047 RGD:8657329 NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,623,268...32,679,164
JBrowse link
G COL11A1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17999364 NCBI chr 4:115,638,381...115,841,679
Ensembl chr 4:115,540,950...115,840,708
JBrowse link
G CTSL cathepsin L ISO protein:increased expression:annulus fibrosus (rat) RGD PMID:15758467 RGD:2315595 NCBI chr10:27,668,523...27,674,705
Ensembl chr10:27,668,264...27,674,618
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO mRNA, protein:increased expression:spinal cord RGD PMID:21224760 RGD:4891907 NCBI chr 6:19,312,351...19,324,439 JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO protein:increased expression:spinal cord RGD PMID:21224760 RGD:4891907 NCBI chr13:23,944,386...23,957,567
Ensembl chr13:23,944,369...23,957,486
JBrowse link
G GC GC vitamin D binding protein ISO protein:increased expression:cerebrospinal fluid RGD PMID:16868893 RGD:5509883 NCBI chr 8:68,326,293...68,360,262
Ensembl chr 8:68,326,301...68,360,262
JBrowse link
G IGF1 insulin like growth factor 1 ISO RGD PMID:21037532 RGD:8549460 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
JBrowse link
G IL1RL1 interleukin 1 receptor like 1 ISO protein:increased expression:spinal cord: RGD PMID:29329586 RGD:40400909 NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,803,165...51,951,383
JBrowse link
G IL33 interleukin 33 ISO protein:increased expression:spinal cord: RGD PMID:29329586 RGD:40400909 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,435...215,941,840
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:24826482 RGD:10450584 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO human protein in rat model RGD PMID:21057386 RGD:5131270 NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,149
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 ISO OMIM NCBI chr 6:48,135,738...48,155,373
Ensembl chr 6:48,147,730...48,155,373
JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Jarcho-Levin syndrome ClinVar PMID:25741868 NCBI chr 7:55,341,941...55,345,824
Ensembl chr 7:55,343,134...55,345,904
JBrowse link
G PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:48,069,532...48,080,001
Ensembl chr 6:48,069,564...48,079,672
JBrowse link
Knobloch Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 ISO ClinVar Annotator: match by term: Knobloch syndrome 1 ClinVar PMID:21862674 PMID:23667181 NCBI chr 6:10,488,504...10,652,508
Ensembl chr 6:10,173,263...10,652,504
JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain ISO OMIM NCBI chr13:207,907,835...207,984,082
Ensembl chr13:207,907,857...207,985,181
JBrowse link
G SLC19A1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Knobloch syndrome
ClinVar Annotator: match by term: Knobloch syndrome 1
ClinVar PMID:1554013 PMID:14695535 PMID:19390655 PMID:21862674 PMID:23667181 More... NCBI chr13:207,986,094...208,007,855
Ensembl chr13:207,986,098...208,007,675
JBrowse link
lateral meningocele syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOTCH3 notch receptor 3 ISO OMIM NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344
JBrowse link
Meckel syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CC2D2A coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Gruber syndrome
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA
ClinVar PMID:18950740 PMID:19777577 PMID:22241855 PMID:22425360 PMID:23012439 More... NCBI chr 8:10,779,206...10,898,189
Ensembl chr 8:10,779,332...10,898,193
JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar PMID:16199547 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 More... NCBI chr 5:94,384,397...94,474,337
Ensembl chr 5:94,384,414...94,475,057
JBrowse link
G MKS1 MKS transition zone complex subunit 1 ISO OMIM NCBI chr12:34,499,139...34,512,191
Ensembl chr12:34,499,141...34,512,187
JBrowse link
G RPGRIP1L RPGRIP1 like ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar Annotator: match by term: Gruber syndrome
ClinVar PMID:17558409 PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532 NCBI chr 6:31,564,937...31,660,540
Ensembl chr 6:31,564,986...31,661,194
JBrowse link
G TMEM107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Meckel syndrome type 1 ClinVar PMID:25741868 PMID:27571260 NCBI chr12:53,394,500...53,397,064
Ensembl chr12:53,393,043...53,397,051
JBrowse link
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar PMID:9375913 PMID:17377820 PMID:17397051 PMID:18414213 PMID:19058225 More... NCBI chr 4:42,878,249...42,931,106
Ensembl chr 4:42,878,254...42,931,121
JBrowse link
Meckel syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM107 transmembrane protein 107 ISO OMIM NCBI chr12:53,394,500...53,397,064
Ensembl chr12:53,393,043...53,397,051
JBrowse link
Meckel syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM216 transmembrane protein 216 ISO OMIM NCBI chr 2:10,107,598...10,122,266
Ensembl chr 2:10,115,607...10,121,811
JBrowse link
Meckel syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM67 transmembrane protein 67 ISO OMIM NCBI chr 4:42,878,249...42,931,106
Ensembl chr 4:42,878,254...42,931,121
JBrowse link
Meckel syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C5H12orf29 chromosome 5 C12orf29 homolog ISO ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:28492532 NCBI chr 5:94,473,172...94,489,643
Ensembl chr 5:94,473,172...94,489,661
JBrowse link
G CEP290 centrosomal protein 290 ISO OMIM NCBI chr 5:94,384,397...94,474,337
Ensembl chr 5:94,384,414...94,475,057
JBrowse link
G TMEM218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:33791682 NCBI chr 9:52,270,691...52,302,766 JBrowse link
Meckel syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPGRIP1L RPGRIP1 like ISO OMIM NCBI chr 6:31,564,937...31,660,540
Ensembl chr 6:31,564,986...31,661,194
JBrowse link
Meckel syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CC2D2A coiled-coil and C2 domain containing 2A ISO OMIM NCBI chr 8:10,779,206...10,898,189
Ensembl chr 8:10,779,332...10,898,193
JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Meckel syndrome type 6 ClinVar PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 More... NCBI chr 5:94,384,397...94,474,337
Ensembl chr 5:94,384,414...94,475,057
JBrowse link
G TCTN2 tectonic family member 2 ISO ClinVar Annotator: match by term: Meckel syndrome type 6 ClinVar PMID:21462283 PMID:23169490 PMID:26729329 NCBI chr14:29,301,848...29,333,063
Ensembl chr14:29,297,881...29,332,720
JBrowse link
Meckel Syndrome, Type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF14 kinesin family member 14 ISO OMIM NCBI chr10:23,123,379...23,177,919
Ensembl chr10:23,125,239...23,174,273
JBrowse link
parietal foramina term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX4 ALX homeobox 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Enlarged parietal foramina
CTD
ClinVar
PMID:11137991 NCBI chr 2:18,070,726...18,085,685
Ensembl chr 2:18,037,578...18,085,868
JBrowse link
G MSX2 msh homeobox 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Enlarged parietal foramina
ClinVar Annotator: match by term: Cranium bifidum occultum
CTD
ClinVar
PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 More... NCBI chr16:49,765,587...49,771,745
Ensembl chr16:49,766,897...49,771,634
JBrowse link
Parietal Foramina 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSX2 msh homeobox 2 ISO OMIM NCBI chr16:49,765,587...49,771,745
Ensembl chr16:49,766,897...49,771,634
JBrowse link
Parietal Foramina 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX4 ALX homeobox 4 ISO OMIM NCBI chr 2:18,070,726...18,085,685
Ensembl chr 2:18,037,578...18,085,868
JBrowse link
Parietal Foramina with Cleidocranial Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSX2 msh homeobox 2 ISO OMIM NCBI chr16:49,765,587...49,771,745
Ensembl chr16:49,766,897...49,771,634
JBrowse link
Smith-Kingsmore Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTOR mechanistic target of rapamycin kinase ISO OMIM NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
JBrowse link
umbilical hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTL6A actin like 6A ISO ClinVar Annotator: match by term: Umbilical hernias ClinVar PMID:25741868 PMID:28649782 NCBI chr13:117,598,415...117,627,311
Ensembl chr13:117,598,493...117,628,493
JBrowse link
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:22473653 NCBI chr 1:142,803,697...142,937,124
Ensembl chr 1:142,803,698...142,937,788
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO RGD PMID:21238647 RGD:11567270 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO RGD PMID:21238647 RGD:11567270 NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,710...131,579,703
JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:228,854,587...229,308,054
Ensembl chr 1:228,854,595...229,308,906
JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Umbilical hernias ClinVar PMID:25741868 NCBI chr 6:71,987,938...72,019,712
Ensembl chr 6:71,988,459...72,021,804
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13702
    Pathological Conditions, Signs and Symptoms 9006
      Anatomical Pathological Conditions 1786
        enterocele 174
          Abdominal Hernia + 20
          Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 0
          Diaphragmatic Hernia + 110
          Encephalocele + 19
          Hernia, Obturator 0
          Incisional Hernia 0
          Intervertebral Disc Displacement + 21
          Megarbane Syndrome 0
          Rectocele 0
          meningocele + 7
Path 2
Term Annotations click to browse term
  disease 13702
    disease of anatomical entity 13375
      Urogenital Diseases 3862
        Female Urogenital Diseases and Pregnancy Complications 1983
          Female Urogenital Diseases 1697
            female reproductive system disease 1693
              prolapse of female genital organ 174
                enterocele 174
                  Abdominal Hernia + 20
                  Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 0
                  Diaphragmatic Hernia + 110
                  Encephalocele + 19
                  Hernia, Obturator 0
                  Incisional Hernia 0
                  Intervertebral Disc Displacement + 21
                  Megarbane Syndrome 0
                  Rectocele 0
                  meningocele + 7
paths to the root