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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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


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congenital diaphragmatic hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr2 angiotensin II receptor type 2 ISO RGD PMID:22113494 RGD:6903875 NCBI chrNW_004936479:13,252,678...13,255,570 JBrowse link
G Atp7a ATPase copper transporting alpha ISO mRNA, protein:decreased expression:diaphragm (rat) RGD PMID:25319798 RGD:11341670 NCBI chrNW_004936683:2,874,022...2,936,214 JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO mRNA:decreased expression:heart: RGD PMID:18280291 RGD:9068407 NCBI chrNW_004936697:1,054,237...1,061,468 JBrowse link
G Cbl Cbl proto-oncogene ISO mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: RGD PMID:23143077 RGD:11038813 NCBI chrNW_004936542:4,136,389...4,235,746 JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20939759 PMID:21258935 NCBI chrNW_004936560:42,561...45,748 JBrowse link
G Cdk8 cyclin dependent kinase 8 ISO ClinVar Annotator: match by term: DIH ClinVar PMID:25741868 NCBI chrNW_004936948:91,578...236,051 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 PMID:16865695 PMID:17325244 PMID:17626518 PMID:20474083 PMID:21842594 PMID:22215463 PMID:23143191 PMID:23168288 PMID:23806086 PMID:23861362 PMID:24033266 PMID:24088041 PMID:25214167 PMID:25736269 PMID:25741868 PMID:26467025 PMID:27651373 PMID:28492532 NCBI chrNW_004936569:1,807,902...1,814,936 JBrowse link
G Eln elastin ISO mRNA,protein:increased expression:lung: RGD PMID:12194112 RGD:9585688 NCBI chrNW_004936543:3,135,169...3,165,023 JBrowse link
G Ep300 E1A binding protein p300 ISO mRNA:decreased expression:lung RGD PMID:24488106 RGD:9588310 NCBI chrNW_004936492:696,982...778,132 JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27880037 NCBI chrNW_004936543:742,722...745,332 JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:23806086 PMID:24088041 PMID:25736269 NCBI chrNW_004936471:10,747,030...10,969,223 JBrowse link
G Fgfrl1 fibroblast growth factor receptor like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20938900 NCBI chrNW_004936477:22,177,473...22,189,554 JBrowse link
G Foxc2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chrNW_004936641:2,236,224...2,238,501 JBrowse link
G Foxf1 forkhead box F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chrNW_004943883:4...1,756 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 chrNW_004936676:1,870,856...2,138,832 JBrowse link
G Frem1 FRAS1 related extracellular matrix 1 ISO DNA:deletion, frame shift:cds, splice junction:
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
CTD Direct Evidence: marker/mechanism
mRNA,protein:decreased expression:diaphragm:
RGD
ClinVar
CTD
PMID:23221805 PMID:23806086 PMID:24088041 PMID:25736269 PMID:25741868 PMID:26382659 RGD:11554181 RGD:11554195 NCBI chrNW_004936539:8,338,624...8,508,031 JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936565:6,671,578...6,837,514 JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23426975 NCBI chrNW_004936675:3,408,549...3,420,828 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 chrNW_004936550:1,814,336...1,844,399 JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chrNW_004936478:17,129,922...17,403,630 JBrowse link
G Igf1 insulin like growth factor 1 ISO mRNA:decreased expression:heart (rat) RGD PMID:11409163 RGD:12904929 NCBI chrNW_004936492:11,709,623...11,784,028 JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chrNW_004936483:4,563,995...4,860,231 JBrowse link
G Igf2 insulin like growth factor 2 treatment ISO RGD PMID:24352370 RGD:10402563 NCBI chrNW_004936816:972,902...981,232 JBrowse link
G Igf2r insulin like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chrNW_004936489:11,447,043...11,523,695 JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO RGD PMID:19844724 RGD:10402761 NCBI chrNW_004936478:20,511,490...20,518,251 JBrowse link
G Igfbp5 insulin like growth factor binding protein 5 ISO RGD PMID:19844724 RGD:10402761 NCBI chrNW_004936586:647,553...666,595 JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21433279 NCBI chrNW_004936588:4,345,306...4,453,380 JBrowse link
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28189443 NCBI chrNW_004936618:4,283,240...4,815,571 JBrowse link
G Kif7 kinesin family member 7 ISO mRNA,protein:decreased expression:diaphragmatic mesenchyme, pulmonary mesenchyme; RGD PMID:25921351 RGD:11553839 NCBI chrNW_004936483:15,430,735...15,450,872 JBrowse link
G LOC101968921 angiotensin-converting enzyme ISO protein:increased activity:lung (rat) RGD PMID:9498404 RGD:12859277 NCBI chrNW_004936541:4,157,847...4,178,156 JBrowse link
G Lztr1 leucine zipper like transcription regulator 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 NCBI chrNW_004936619:2,505,300...2,523,500 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 PMID:23806086 PMID:24088041 PMID:24728327 PMID:25605252 PMID:25736269 PMID:25741868 PMID:25859546 PMID:26467025 PMID:28492532 NCBI chrNW_004936589:2,280,803...2,390,179 JBrowse link
G Mn1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: DIH ClinVar PMID:25741868 PMID:31834374 NCBI chrNW_004936657:2,024,302...2,066,196 JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258934 NCBI chrNW_004936528:1,407,187...1,409,683 JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:decreased expression:pulmonary artery (rat) RGD PMID:29216632 RGD:13504720 NCBI chrNW_004936527:6,427,147...6,445,770 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 PMID:24033266 PMID:24088041 PMID:25736269 PMID:25741868 PMID:26467025 PMID:29407415 NCBI chrNW_004936569:4,215,513...4,307,815 JBrowse link
G Pim1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chrNW_004936476:22,295,023...22,300,155 JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chrNW_004936529:1,000,050...1,045,655 JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chrNW_004936743:1,321,816...1,336,682 JBrowse link
G Sod1 superoxide dismutase 1 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chrNW_004936500:10,345,154...10,352,873 JBrowse link
G Sod2 superoxide dismutase 2 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chrNW_004936489:11,178,338...11,191,601 JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chrNW_004936490:17,119,189...17,178,402 JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:10541330 RGD:12904053 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:decreased expression:lung: RGD PMID:15879288 RGD:7421593 NCBI chrNW_004936476:16,245,134...16,261,180 JBrowse link
G Wnt11 Wnt family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chrNW_004936498:4,909,041...4,927,482 JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21072664 NCBI chrNW_004936533:5,411,949...5,459,693 JBrowse link
diaphragmatic eventration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Diaphragmatic eventration ClinVar PMID:25741868 PMID:26619011 PMID:27631024 PMID:28492532 PMID:31568861 NCBI chrNW_004936566:3,924,013...3,951,052 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 chrNW_004936484:19,713,299...19,721,144 JBrowse link
G Aqp5 aquaporin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17245593 PMID:17270560 NCBI chrNW_004936512:7,639,518...7,643,242 JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chrNW_004936697:1,054,237...1,061,468 JBrowse link
G Cdk8 cyclin dependent kinase 8 ISO ClinVar Annotator: match by term: Diaphragmatic hernia ClinVar PMID:25741868 NCBI chrNW_004936948:91,578...236,051 JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: therapeutic CTD PMID:16473863 NCBI chrNW_004936589:1,565,933...1,719,208 JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chrNW_004936534:885,489...892,292 JBrowse link
G Ednra endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chrNW_004936535:1,950,117...2,005,786 JBrowse link
G Ednrb endothelin receptor type B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10693666 NCBI chrNW_004936511:3,446,864...3,478,434 JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:10359170 NCBI chrNW_004936543:3,135,169...3,165,023 JBrowse link
G Fgf18 fibroblast growth factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303798 NCBI chrNW_004936609:3,677,661...3,706,511 JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10646786 NCBI chrNW_004936662:1,886,176...1,928,998 JBrowse link
G Foxa2 forkhead box A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16863852 NCBI chrNW_004936620:2,966,341...2,969,349 JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chrNW_004936675:3,408,549...3,420,828 JBrowse link
G Gata6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diaphragmatic hernia
CTD
ClinVar
PMID:18280291 PMID:22158542 PMID:24385578 NCBI chrNW_004936550:1,814,336...1,844,399 JBrowse link
G Hoxa5 homeobox A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chrNW_004936478:3,768,757...3,771,850 JBrowse link
G Hoxb3 homeobox B3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chrNW_004936490:12,834,240...12,836,812 JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12759764 PMID:17245593 NCBI chrNW_004936659:616,570...627,172 JBrowse link
G Igf1 insulin like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chrNW_004936492:11,709,623...11,784,028 JBrowse link
G Igf2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chrNW_004936816:972,902...981,232 JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chrNW_004936704:2,007,577...2,019,520 JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chrNW_004936514:4,827,156...4,902,271 JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chrNW_004936521:2,000,113...2,706,010 JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chrNW_004936469:10,245,001...10,438,933 JBrowse link
G Mn1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: Diaphragmatic hernia ClinVar PMID:25741868 PMID:31834374 NCBI chrNW_004936657:2,024,302...2,066,196 JBrowse link
G Myod1 myogenic differentiation 1 ISO mRNA:decreased expression:diaphragm RGD PMID:21258934 RGD:9686080 NCBI chrNW_004936528:1,407,187...1,409,683 JBrowse link
G Nkx2-1 NK2 homeobox 1 ISO mRNA, protein:increased expression:lung
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10830305 PMID:16863852 PMID:17245593 RGD:1600158 NCBI chrNW_004936494:10,517,488...10,520,567 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 chrNW_004936527:6,427,147...6,445,770 JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11584395 NCBI chrNW_004936474:671,362...673,610 JBrowse link
G Nr2f2 nuclear receptor subfamily 2 group F member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chrNW_004936483:6,886,447...6,900,986 JBrowse link
G Pax3 paired box 3 ISO mRNA:decreased expression:heart (rat) RGD PMID:15616818 RGD:1580942 NCBI chrNW_004936569:4,215,513...4,307,815 JBrowse link
G Rxra retinoid X receptor alpha ISO mRNA:increased expression:lung RGD PMID:17270546 RGD:1643107 NCBI chrNW_004936669:2,735,111...2,763,060 JBrowse link
G Sftpb surfactant protein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10830305 PMID:16863852 NCBI chrNW_004936712:1,614,979...1,621,207 JBrowse link
G Sftpc surfactant protein C ISO CTD Direct Evidence: marker/mechanism CTD PMID:10751355 NCBI chrNW_004936555:5,966,610...5,982,083 JBrowse link
G Slit3 slit guidance ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chrNW_004936622:191,165...756,552 JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chrNW_004936471:33,224,174...33,245,076 JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:lung
CTD
RGD
PMID:10646786 PMID:19635314 RGD:4145129 NCBI chrNW_004936661:3,742,080...3,758,266 JBrowse link
G Thra thyroid hormone receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chrNW_004936490:15,188,341...15,206,032 JBrowse link
G Thrb thyroid hormone receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chrNW_004936473:15,766,214...15,986,389 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10541330 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18958481 NCBI chrNW_004936482:8,551,749...8,563,586 JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12759764 NCBI chrNW_004936748:785,491...802,791 JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chrNW_004936533:5,411,949...5,459,693 JBrowse link
G Zfpm2 zinc finger protein, FOG family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chrNW_004936470:38,432,894...38,857,656 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 chrNW_004936470:38,432,894...38,857,656 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 chrNW_004936618:1,694,886...1,792,586 JBrowse link
G Lrp2 LDL receptor related protein 2 ISO OMIM NCBI chrNW_004936469:10,245,001...10,438,933 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 chrNW_004936809:1,229,933...1,232,448 JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chrNW_004936877:659,881...666,169 JBrowse link
G Tp53rk TP53 regulating kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chrNW_004936514:6,512,838...6,515,479 JBrowse link
G Tprkb TP53RK binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chrNW_004936491:17,493,630...17,500,779 JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chrNW_004936500:1,144,190...1,162,925 JBrowse link
G Wdr73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25466283 NCBI chrNW_004936483:16,698,878...16,711,510 JBrowse link
G Znf592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chrNW_004936483:16,812,578...16,849,188 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 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chrNW_004936487:15,467,165...15,499,180 JBrowse link
G Wdr73 WD repeat domain 73 ISO OMIM NCBI chrNW_004936483:16,698,878...16,711,510 JBrowse link
G Znf592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia autosomal recessive 5
ClinVar Annotator: match by term: Galloway-Mowat syndrome 1
ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chrNW_004936483:16,812,578...16,849,188 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 chrNW_004936809:1,229,933...1,232,448 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 chrNW_004936877:659,881...666,169 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 chrNW_004936514:6,512,838...6,515,479 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 chrNW_004936491:17,493,630...17,500,779 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 chrNW_004936500:1,144,190...1,162,925 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 chrNW_004936545:6,600,124...6,642,839 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 chrNW_004936484:20,185,558...20,230,904 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 chrNW_004937000:88,529...96,794 JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chrNW_004936626:3,555,835...3,581,651 JBrowse link
G Fbp2 fructose-bisphosphatase 2 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chrNW_004936626:3,521,953...3,548,206 JBrowse link
G Mfsd14b major facilitator superfamily domain containing 14B ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chrNW_004936487:1,710,576...1,804,372 JBrowse link
G Phf2 PHD finger protein 2 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chrNW_004936487:2,912,114...2,956,429 JBrowse link
G Ptpdc1 protein tyrosine phosphatase domain containing 1 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chrNW_004937000:156,634...195,760 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 chrNW_004936661:2,322,531...2,330,150 JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Jarcho-Levin syndrome
ClinVar Annotator: match by term: Spondylothoracic Dysostosis
ClinVar PMID:18485326 PMID:25741868 PMID:28492532 NCBI chrNW_004936483:15,555,084...15,557,060 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 NCBI chrNW_004936661:2,257,097...2,268,301 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11994
    disease of anatomical entity 11557
      musculoskeletal system disease 4967
        muscular disease 1080
          diaphragm disease 97
            Diaphragmatic Hernia + 96
            diaphragmatic eventration + 1
Path 2
Term Annotations click to browse term
  disease 11994
    disease of anatomical entity 11557
      nervous system disease 9471
        peripheral nervous system disease 2234
          neuropathy 2084
            neuromuscular disease 1638
              muscular disease 1080
                diaphragm disease 97
                  Diaphragmatic Hernia + 96
                  diaphragmatic eventration + 1
paths to the root