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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 chr19:40,550,257...40,588,463
Ensembl chr19:40,550,257...40,588,463
JBrowse link
G Efemp1 epidermal growth factor-containing fibulin-like extracellular matrix protein 1 IMP RGD PMID:17872905 RGD:10401789 NCBI chr11:28,853,154...28,926,743
Ensembl chr11:28,853,204...28,926,743
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 chr13:31,806,646...31,810,635
Ensembl chr13:31,806,633...31,812,476
JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 IEA OMIM:180500 MouseDO NCBI chr 4:133,964,739...133,967,991
Ensembl chr 4:133,964,738...133,968,650
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 2:105,668,896...105,698,410
Ensembl chr 2:105,668,900...105,697,364
JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 ISO
IEA
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
OMIM:180500
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:180500
OMIM
ClinVar
MouseDO
CTD
PMID:8944018 PMID:9685346 PMID:10490637 PMID:10502778 PMID:10644443 More... NCBI chr 3:129,199,878...129,219,594
Ensembl chr 3:129,199,878...129,219,591
JBrowse link
G Prdm5 PR domain containing 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 6:65,777,656...65,937,622
Ensembl chr 6:65,778,988...65,937,010
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 3:102,086,415...102,146,514
Ensembl chr 3:102,086,415...102,146,514
JBrowse link
G Cdx2 caudal type homeobox 2 ISO ClinVar Annotator: match by term: Sirenomelia ClinVar PMID:25741868 NCBI chr 5:147,300,900...147,307,249
Ensembl chr 5:147,300,805...147,307,270
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr19:17,432,314...17,837,712
Ensembl chr19:17,432,319...17,837,632
JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Agenesis of sacrum ClinVar PMID:18564 PMID:9497245 PMID:10484775 PMID:11575529 PMID:12059893 More... NCBI chr 7:29,003,340...29,125,179
Ensembl chr 7:29,003,344...29,125,179
JBrowse link
G Vangl1 VANGL planar cell polarity 1 ISO ClinVar Annotator: match by term: Sacral defect with anterior meningocele
ClinVar Annotator: match by term: Caudal dysgenesis syndrome
ClinVar Annotator: match by synonym: Caudal regression syndrome
OMIM
ClinVar
PMID:17409324 PMID:19319979 PMID:22892949 PMID:24033266 PMID:24307374 More... NCBI chr 3:102,153,583...102,204,744
Ensembl chr 3:102,153,583...102,204,693
JBrowse link
G Zbtb16 zinc finger and BTB domain containing 16 ISO RGD PMID:27727328 RGD:40924666 NCBI chr 9:48,651,797...48,836,225
Ensembl chr 9:48,654,297...48,836,222
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 chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO RGD PMID:22113494 RGD:6903875 NCBI chr  X:21,484,624...21,488,833
Ensembl chr  X:21,484,544...21,489,164
JBrowse link
G Atp7a ATPase, Cu++ transporting, alpha polypeptide ISO mRNA, protein:decreased expression:diaphragm (rat) RGD PMID:25319798 RGD:11341670 NCBI chr  X:106,027,224...106,128,161
Ensembl chr  X:106,027,276...106,124,926
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO mRNA:decreased expression:heart: RGD PMID:18280291 RGD:9068407 NCBI chr14:46,383,525...46,390,669
Ensembl chr14:46,383,520...46,390,669
JBrowse link
G Cbl Casitas B-lineage lymphoma ISO mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: RGD PMID:23143077 RGD:11038813 NCBI chr 9:44,142,976...44,234,259
Ensembl chr 9:44,142,976...44,234,049
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30418988 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20939759 PMID:21258935 NCBI chr10:24,595,442...24,598,683
Ensembl chr10:24,595,442...24,598,683
JBrowse link
G Cdk8 cyclin-dependent kinase 8 ISO ClinVar Annotator: match by term: DIH ClinVar PMID:25741868 NCBI chr 5:146,230,795...146,302,874
Ensembl chr 5:146,231,230...146,302,874
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 chr 1:75,360,292...75,368,579
Ensembl chr 1:75,360,329...75,368,579
JBrowse link
G Eln elastin ISO mRNA,protein:increased expression:lung: RGD PMID:12194112 RGD:9585688 NCBI chr 5:134,702,595...134,747,368
Ensembl chr 5:134,702,593...134,747,323
JBrowse link
G Ep300 E1A binding protein p300 ISO mRNA:decreased expression:lung RGD PMID:24488106 RGD:9588310 NCBI chr15:81,586,209...81,652,077
Ensembl chr15:81,585,351...81,652,077
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27880037 NCBI chr 5:137,483,020...137,485,816
Ensembl chr 5:137,483,020...137,533,242
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:23806086 PMID:24088041 PMID:25736269 NCBI chr 2:125,300,594...125,506,485
Ensembl chr 2:125,300,594...125,507,993
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 5:108,694,229...108,706,950
Ensembl chr 5:108,692,382...108,706,924
JBrowse link
G Foxc2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr 8:121,116,171...121,118,895
Ensembl chr 8:121,116,171...121,118,895
JBrowse link
G Foxf1 forkhead box F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr 8:121,084,386...121,088,154
Ensembl chr 8:121,084,386...121,088,144
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 5:96,373,777...96,784,733
Ensembl chr 5:96,373,955...96,784,728
JBrowse link
G Frem1 Fras1 related extracellular matrix protein 1 ISO
IEA
IAGP
DNA:deletion, frame shift:cds, splice junction:
OMIM:142340 | OMIM:222400 | OMIM:610187
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
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 4:82,897,920...83,052,506
Ensembl chr 4:82,897,920...83,052,339
JBrowse link
G Frem2 Fras1 related extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:53,513,938...53,658,593
Ensembl chr 3:53,513,938...53,657,355
JBrowse link
G Gata4 GATA binding protein 4 ISO
IEA
CTD Direct Evidence: marker/mechanism
OMIM:142340 | OMIM:222400 | OMIM:610187
CTD
MouseDO
PMID:23426975 NCBI chr14:63,198,914...63,271,712
Ensembl chr14:63,198,922...63,271,692
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
ClinVar
RGD
PMID:22158542 PMID:24385578 PMID:18280291 RGD:9068407 NCBI chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635
JBrowse link
G Gli3 GLI-Kruppel family member GLI3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr13:15,463,723...15,730,026
Ensembl chr13:15,463,235...15,730,026
JBrowse link
G Igf1 insulin-like growth factor 1 ISO mRNA:decreased expression:heart (rat) RGD PMID:11409163 RGD:12904929 NCBI chr10:87,858,265...87,937,047
Ensembl chr10:87,858,265...87,937,042
JBrowse link
G Igf1r insulin-like growth factor I receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr 7:67,952,257...68,233,668
Ensembl chr 7:67,952,827...68,233,668
JBrowse link
G Igf2 insulin-like growth factor 2 treatment ISO RGD PMID:24352370 RGD:10402563 NCBI chr 7:142,650,768...142,666,816
Ensembl chr 7:142,650,766...142,666,816
JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr17:12,682,406...12,769,706
Ensembl chr17:12,682,406...12,769,664
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO RGD PMID:19844724 RGD:10402761 NCBI chr11:7,206,086...7,215,498
Ensembl chr11:7,206,086...7,213,923
JBrowse link
G Igfbp5 insulin-like growth factor binding protein 5 ISO RGD PMID:19844724 RGD:10402761 NCBI chr 1:72,858,065...72,874,865
Ensembl chr 1:72,857,932...72,874,884
JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21433279 NCBI chr 8:3,150,922...3,279,649
Ensembl chr 8:3,122,061...3,279,617
JBrowse link
G Kcnq5 potassium voltage-gated channel, subfamily Q, member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28189443 NCBI chr 1:21,398,399...21,962,650
Ensembl chr 1:21,398,403...21,961,942
JBrowse link
G Kif7 kinesin family member 7 ISO
IEA
mRNA,protein:decreased expression:diaphragmatic mesenchyme, pulmonary mesenchyme;
OMIM:142340 | OMIM:222400 | OMIM:610187
MouseDO
RGD
PMID:25921351 RGD:11553839 NCBI chr 7:79,698,098...79,715,772
Ensembl chr 7:79,698,098...79,715,720
JBrowse link
G Lcn2 lipocalin 2 ISO mRNA:decreased expression:lung
protein:decreased expression:amniotic fluid
RGD PMID:27592368 PMID:27592368 RGD:126790533, RGD:126790533 NCBI chr 2:32,384,637...32,387,739
Ensembl chr 2:32,384,633...32,388,252
JBrowse link
G Lrp1 low density lipoprotein receptor-related protein 1 IEA OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr10:127,538,157...127,621,148
Ensembl chr10:127,538,161...127,621,148
JBrowse link
G Lztr1 leucine-zipper-like transcriptional regulator, 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 NCBI chr16:17,508,260...17,526,333
Ensembl chr16:17,508,688...17,526,333
JBrowse link
G Met met proto-oncogene ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:1104268 PMID:14559814 PMID:17483355 PMID:21970370 PMID:22703879 More... NCBI chr 6:17,463,349...17,573,980
Ensembl chr 6:17,463,800...17,573,980
JBrowse link
G Mn1 meningioma 1 ISO ClinVar Annotator: match by term: DIH ClinVar PMID:25741868 PMID:31834374 NCBI chr 5:111,417,300...111,457,030
Ensembl chr 5:111,417,362...111,457,033
JBrowse link
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:12707239 PMID:17125710 PMID:18076673 PMID:20394946 PMID:20800588 More... NCBI chr14:54,970,684...54,994,626
Ensembl chr14:54,970,684...54,994,626
JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258934 NCBI chr 7:46,376,474...46,379,092
Ensembl chr 7:46,376,474...46,379,099
JBrowse link
G Ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 IEA OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr18:60,684,494...60,749,035
Ensembl chr18:60,684,494...60,748,650
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO protein:decreased expression:pulmonary artery (rat) RGD PMID:29216632 RGD:13504720 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 IEA OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 7:70,351,946...70,366,746
Ensembl chr 7:70,351,944...70,366,735
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 chr 1:78,101,267...78,197,136
Ensembl chr 1:78,101,267...78,197,134
JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide IEA OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 5:75,151,322...75,198,206
Ensembl chr 5:75,152,292...75,198,215
JBrowse link
G Pim1 proviral integration site 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr17:29,490,785...29,496,111
Ensembl chr17:29,490,753...29,496,112
JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr 9:108,306,160...108,337,943
Ensembl chr 9:108,306,129...108,337,934
JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr 9:37,401,902...37,414,023
Ensembl chr 9:37,401,897...37,415,115
JBrowse link
G Slit3 slit guidance ligand 3 IEA OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr11:35,121,456...35,708,507
Ensembl chr11:35,121,224...35,708,507
JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr16:90,220,762...90,226,333
Ensembl chr16:90,220,754...90,226,329
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Sox7 SRY (sex determining region Y)-box 7 IEA OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr14:63,943,706...63,950,732
Ensembl chr14:63,943,673...63,950,732
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr11:100,886,806...100,939,594
Ensembl chr11:100,885,098...100,939,540
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:10541330 RGD:12904053 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:decreased expression:lung: RGD PMID:15879288 RGD:7421593 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
JBrowse link
G Wnt11 wingless-type MMTV integration site family, member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr 7:98,835,084...98,854,747
Ensembl chr 7:98,835,112...98,855,195
JBrowse link
G Wt1 WT1 transcription factor ISO
IEA
CTD Direct Evidence: marker/mechanism
OMIM:142340 | OMIM:222400 | OMIM:610187
CTD
MouseDO
PMID:21072664 NCBI chr 2:105,126,529...105,173,614
Ensembl chr 2:105,126,529...105,173,616
JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISS
IEA
OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr15:40,655,042...41,104,592
Ensembl chr15:40,655,035...41,104,592
JBrowse link
Diaphragmatic Hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen (serpin peptidase inhibitor, clade A, member 8) ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292651 NCBI chr 8:124,556,587...124,569,706
Ensembl chr 8:124,556,534...124,569,706
JBrowse link
G Agtr1a angiotensin II receptor, type 1a EXP CTD Direct Evidence: marker/mechanism CTD PMID:16292651 NCBI chr13:30,336,356...30,382,867
Ensembl chr13:30,336,441...30,382,867
JBrowse link
G Agtr1b angiotensin II receptor, type 1b EXP CTD Direct Evidence: marker/mechanism CTD PMID:16292651 NCBI chr 3:20,314,473...20,367,177
Ensembl chr 3:20,314,473...20,367,177
JBrowse link
G Aqp5 aquaporin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17245593 PMID:17270560 NCBI chr15:99,591,028...99,594,829
Ensembl chr15:99,590,782...99,594,829
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr14:46,383,525...46,390,669
Ensembl chr14:46,383,520...46,390,669
JBrowse link
G Cftr cystic fibrosis transmembrane conductance regulator ISO CTD Direct Evidence: therapeutic CTD PMID:16473863 NCBI chr 6:18,170,687...18,322,770
Ensembl chr 6:18,170,687...18,322,768
JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chr13:42,301,476...42,307,990
Ensembl chr13:42,301,476...42,307,990
JBrowse link
G Ednra endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chr 8:77,663,029...77,724,452
Ensembl chr 8:77,663,031...77,724,464
JBrowse link
G Ednrb endothelin receptor type B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10693666 NCBI chr14:103,814,615...103,844,508
Ensembl chr14:103,814,625...103,844,402
JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:10359170 NCBI chr 5:134,702,595...134,747,368
Ensembl chr 5:134,702,593...134,747,323
JBrowse link
G Fgf18 fibroblast growth factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303798 NCBI chr11:33,116,970...33,147,400
Ensembl chr11:33,117,430...33,147,400
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10646786 NCBI chr 3:37,348,477...37,410,106
Ensembl chr 3:37,348,346...37,410,108
JBrowse link
G Foxa2 forkhead box A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16863852 NCBI chr 2:148,042,877...148,046,969
Ensembl chr 2:148,042,877...148,046,969
JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr14:63,198,914...63,271,712
Ensembl chr14:63,198,922...63,271,692
JBrowse link
G Gata6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292552 PMID:16720372 NCBI chr10:56,377,300...56,390,419
Ensembl chr10:56,377,330...56,402,513
JBrowse link
G Hoxa5 homeobox A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chr 6:52,201,754...52,204,587
Ensembl chr 6:52,201,754...52,204,587
JBrowse link
G Hoxb3 homeobox B3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chr11:96,307,101...96,347,930
Ensembl chr11:96,323,326...96,347,930
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12759764 PMID:17245593 NCBI chr 9:21,015,940...21,028,814
Ensembl chr 9:21,015,985...21,028,817
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chr10:87,858,265...87,937,047
Ensembl chr10:87,858,265...87,937,042
JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chr 7:142,650,768...142,666,816
Ensembl chr 7:142,650,766...142,666,816
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18500730 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Kcna2 potassium voltage-gated channel, shaker-related subfamily, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr 3:107,090,883...107,115,005
Ensembl chr 3:107,101,146...107,115,005
JBrowse link
G Kcnb1 potassium voltage gated channel, Shab-related subfamily, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr 2:167,095,969...167,190,072
Ensembl chr 2:167,095,969...167,190,155
JBrowse link
G Kcnma1 potassium large conductance calcium-activated channel, subfamily M, alpha member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr14:23,292,288...24,005,110
Ensembl chr14:23,289,431...24,014,491
JBrowse link
G Lrp2 low density lipoprotein receptor-related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chr 2:69,424,335...69,586,029
Ensembl chr 2:69,424,340...69,586,065
JBrowse link
G Myod1 myogenic differentiation 1 ISO mRNA:decreased expression:diaphragm RGD PMID:21258934 RGD:9686080 NCBI chr 7:46,376,474...46,379,092
Ensembl chr 7:46,376,474...46,379,099
JBrowse link
G Nkx2-1 NK2 homeobox 1 ISO mRNA, protein:increased expression:lung
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:10830305 PMID:16863852 PMID:17245593 RGD:1600158 NCBI chr12:56,531,935...56,536,908
Ensembl chr12:56,531,958...56,536,908
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO mRNA, protein:decreased expression:lung
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:7576705 PMID:8863223 PMID:7576705 RGD:5132862 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Nppa natriuretic peptide type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11584395 NCBI chr 4:148,000,722...148,002,074
Ensembl chr 4:148,000,722...148,002,079
JBrowse link
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr 7:70,351,946...70,366,746
Ensembl chr 7:70,351,944...70,366,735
JBrowse link
G Pax3 paired box 3 ISO mRNA:decreased expression:heart (rat) RGD PMID:15616818 RGD:1580942 NCBI chr 1:78,101,267...78,197,136
Ensembl chr 1:78,101,267...78,197,134
JBrowse link
G Rxra retinoid X receptor alpha ISO mRNA:increased expression:lung RGD PMID:17270546 RGD:1643107 NCBI chr 2:27,676,445...27,763,319
Ensembl chr 2:27,676,440...27,762,957
JBrowse link
G Sftpb surfactant associated protein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10830305 PMID:16863852 NCBI chr 6:72,304,610...72,314,373
Ensembl chr 6:72,304,610...72,314,371
JBrowse link
G Sftpc surfactant associated protein C ISO CTD Direct Evidence: marker/mechanism CTD PMID:10751355 NCBI chr14:70,520,941...70,524,081
Ensembl chr14:70,520,949...70,524,081
JBrowse link
G Slit3 slit guidance ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr11:35,121,456...35,708,507
Ensembl chr11:35,121,224...35,708,507
JBrowse link
G Stra6 stimulated by retinoic acid gene 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chr 9:58,063,793...58,154,004
Ensembl chr 9:58,063,788...58,153,996
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:increased expression:lung
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:10646786 PMID:19635314 RGD:4145129 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
JBrowse link
G Thra thyroid hormone receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chr11:98,740,776...98,769,006
Ensembl chr11:98,740,638...98,769,006
JBrowse link
G Thrb thyroid hormone receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chr14:17,659,225...18,040,097
Ensembl chr14:17,660,261...18,038,090
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10541330 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Uchl1 ubiquitin carboxy-terminal hydrolase L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18958481 NCBI chr 5:66,676,121...66,687,234
Ensembl chr 5:66,676,091...66,687,234
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12759764 NCBI chr 3:116,110,020...116,129,688
Ensembl chr 3:116,109,949...116,129,688
JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr 2:105,126,529...105,173,614
Ensembl chr 2:105,126,529...105,173,616
JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr15:40,655,042...41,104,592
Ensembl chr15:40,655,035...41,104,592
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, multitype 2 ISO ClinVar Annotator: match by term: Diaphragmatic hernia 3
ClinVar Annotator: match by OMIM:610187
OMIM
ClinVar
PMID:14517948 PMID:16103912 PMID:17568391 PMID:20807224 PMID:21919901 More... NCBI chr15:40,655,042...41,104,592
Ensembl chr15:40,655,035...41,104,592
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 1:24,676,992...24,766,301
Ensembl chr 1:24,678,630...24,766,301
JBrowse link
G Lrp2 low density lipoprotein receptor-related protein 2 ISO
IEA
ClinVar Annotator: match by term: Donnai-Barrow syndrome
ClinVar Annotator: match by term: Donnai Barrow syndrome
OMIM:222448
ClinVar Annotator: match by OMIM:222448
OMIM
ClinVar
MouseDO
PMID:8266995 PMID:9475100 PMID:12923867 PMID:17632512 PMID:18414213 More... NCBI chr 2:69,424,335...69,586,029
Ensembl chr 2:69,424,340...69,586,065
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 5:43,662,374...43,740,975
Ensembl chr 5:43,662,346...43,740,972
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 chr10:100,487,548...100,575,671
Ensembl chr10:100,487,558...100,574,840
JBrowse link
G Dnai3 dynein axonemal intermediate chain 3 ISO ClinVar Annotator: match by term: Occipital encephalocele ClinVar PMID:29285825 NCBI chr 3:146,040,526...146,108,100
Ensembl chr 3:146,040,526...146,108,130
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 chr14:99,099,424...99,254,899
Ensembl chr14:99,099,424...99,254,493
JBrowse link
G Rpgrip1l Rpgrip1-like ISO associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr 8:91,217,030...91,313,291
Ensembl chr 8:91,217,030...91,313,262
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 4:118,362,740...118,409,286
Ensembl chr 4:118,362,743...118,409,273
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:74,352,162...74,353,618
Ensembl chr  X:74,351,276...74,353,618
JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr14:50,915,374...50,924,893
Ensembl chr14:50,906,478...50,924,893
JBrowse link
G Tprkb Tp53rk binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 6:85,911,860...85,930,284
Ensembl chr 6:85,911,865...85,930,284
JBrowse link
G Trp53rka transformation related protein 53 regulating kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 2:165,490,112...165,493,314
Ensembl chr 2:165,490,110...165,493,324
JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr17:31,494,322...31,519,985
Ensembl chr17:31,494,322...31,519,980
JBrowse link
G Wdr73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25466283 NCBI chr 7:80,890,723...80,901,269
Ensembl chr 7:80,890,723...80,901,269
JBrowse link
G Zfp592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr 7:80,993,684...81,045,162
Ensembl chr 7:80,993,681...81,045,164
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 2:32,646,595...32,682,669
Ensembl chr 2:32,646,595...32,682,669
JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 OMIM
ClinVar
PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More... NCBI chr 7:80,890,723...80,901,269
Ensembl chr 7:80,890,723...80,901,269
JBrowse link
G Zfp592 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 7:80,993,684...81,045,162
Ensembl chr 7:80,993,681...81,045,164
JBrowse link
Galloway-Mowat Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1110065P20Rik RIKEN cDNA 1110065P20 gene ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 10 ClinVar PMID:31481669 NCBI chr 4:124,849,485...124,850,730
Ensembl chr 4:124,849,080...124,851,196
JBrowse link
G Yrdc yrdC domain containing (E.coli) ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 10 OMIM
ClinVar
PMID:31481669 PMID:34545459 NCBI chr 4:124,850,759...124,855,242
Ensembl chr 4:124,850,679...124,855,242
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 ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 2, X-LINKED
ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked
ClinVar
OMIM
PMID:12693786 PMID:25741868 PMID:28805828 NCBI chr  X:74,352,162...74,353,618
Ensembl chr  X:74,351,276...74,353,618
JBrowse link
Galloway-Mowat syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC107399302 Apex1 promoter region ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 3
ClinVar Annotator: match by term: Galloway-Mowat syndrome 3
ClinVar PMID:25741868 PMID:28805828 PMID:33532864 NCBI chr14:50,924,669...50,925,141 JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 3
ClinVar Annotator: match by term: Galloway-Mowat syndrome 3
ClinVar
OMIM
PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chr14:50,915,374...50,924,893
Ensembl chr14:50,906,478...50,924,893
JBrowse link
Galloway-Mowat syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp53rka transformation related protein 53 regulating kinase A ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 4
ClinVar Annotator: match by term: Galloway-Mowat syndrome 4
ClinVar
OMIM
PMID:25741868 PMID:28805828 NCBI chr 2:165,490,112...165,493,314
Ensembl chr 2:165,490,110...165,493,324
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 ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 5 ClinVar
OMIM
PMID:28805828 NCBI chr 6:85,911,860...85,930,284
Ensembl chr 6:85,911,865...85,930,284
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 ClinVar Annotator: match by term: Galloway-Mowat syndrome 6
ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 6
OMIM
ClinVar
PMID:25741868 PMID:26416026 PMID:28617965 PMID:29597095 PMID:30079490 NCBI chr17:31,494,322...31,519,985
Ensembl chr17:31,494,322...31,519,980
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 ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 7 OMIM
ClinVar
PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:30179222 NCBI chr10:117,750,621...117,792,736
Ensembl chr10:117,750,621...117,792,705
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 ClinVar Annotator: match by term: Galloway-Mowat syndrome 8
ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 8
OMIM
ClinVar
PMID:11793129 PMID:30427554 NCBI chr 8:123,897,114...123,949,265
Ensembl chr 8:123,897,123...123,949,265
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 ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 9 OMIM
ClinVar
PMID:31481669 NCBI chr12:102,753,275...102,757,810
Ensembl chr12:102,753,275...102,757,803
JBrowse link
gastroschisis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add1 adducin 1 (alpha) ISO DNA:SNP: :p.G460W (human) RGD PMID:17051589 RGD:5148000 NCBI chr 5:34,573,664...34,632,308
Ensembl chr 5:34,573,664...34,632,308
JBrowse link
G Igf1r insulin-like growth factor I receptor ISO protein:increased expression:liver, intestine (rat) RGD PMID:23381816 RGD:12904922 NCBI chr 7:67,952,257...68,233,668
Ensembl chr 7:67,952,827...68,233,668
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase severity ISO protein:decreased expression:intestine: RGD PMID:15486901 RGD:12910745 NCBI chr 5:75,574,987...75,656,722
Ensembl chr 5:75,574,916...75,656,722
JBrowse link
G Lrp1 low density lipoprotein receptor-related protein 1 IEA OMIM:230750 MouseDO NCBI chr10:127,538,157...127,621,148
Ensembl chr10:127,538,161...127,621,148
JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO protein:increased expression:intestine (rat) RGD PMID:21960425 RGD:5508749 NCBI chr11:78,920,787...78,960,226
Ensembl chr11:78,920,787...78,960,254
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 treatment ISO RGD PMID:26578432 RGD:11041579 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col3a1 collagen, type III, alpha 1 treatment ISO RGD PMID:26578432 RGD:11041579 NCBI chr 1:45,311,538...45,349,706
Ensembl chr 1:45,311,538...45,349,706
JBrowse link
hiatus hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Barx1 BarH-like homeobox 1 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr13:48,663,036...48,666,507
Ensembl chr13:48,662,998...48,666,507
JBrowse link
G Fam120a family with sequence similarity 120, member A ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr13:48,879,216...48,968,060
Ensembl chr13:48,879,219...48,968,017
JBrowse link
G Fbp1 fructose bisphosphatase 1 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr13:62,864,753...62,888,298
Ensembl chr13:62,864,753...62,888,282
JBrowse link
G Fbp2 fructose bisphosphatase 2 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr13:62,836,884...62,858,400
Ensembl chr13:62,836,877...62,858,422
JBrowse link
G Mfsd14b major facilitator superfamily domain containing 14B ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr13:65,065,030...65,112,999
Ensembl chr13:65,064,663...65,112,975
JBrowse link
G Mirlet7a-1 microRNA let7a-1 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr13:48,538,179...48,538,272
Ensembl chr13:48,538,179...48,538,272
JBrowse link
G Mirlet7d microRNA let7d ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr13:48,536,012...48,536,114
Ensembl chr13:48,536,012...48,536,114
JBrowse link
G Mirlet7f-1 microRNA let7f-1 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr13:48,537,829...48,537,917
Ensembl chr13:48,537,829...48,537,917
JBrowse link
G Phf2 PHD finger protein 2 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr13:48,801,750...48,870,885
Ensembl chr13:48,801,750...48,871,119
JBrowse link
G Ptpdc1 protein tyrosine phosphatase domain containing 1 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr13:48,577,869...48,625,672
Ensembl chr13:48,577,872...48,625,664
JBrowse link
G Zfp169 zinc finger protein 169 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr13:48,480,763...48,513,493
Ensembl chr13:48,487,647...48,513,451
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 chr 3:32,708,546...32,726,973
Ensembl chr 3:32,706,298...32,726,973
JBrowse link
G Col5a1 collagen, type V, alpha 1 ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:25741868 NCBI chr 2:27,886,381...28,039,510
Ensembl chr 2:27,886,425...28,039,514
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:25741868 PMID:28492532 NCBI chr11:79,339,590...79,581,609
Ensembl chr11:79,339,693...79,581,612
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II ISO CTD Direct Evidence: marker/mechanism CTD PMID:16885183 NCBI chr 9:116,087,695...116,175,363
Ensembl chr 9:116,084,293...116,175,360
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 chr13:49,544,443...49,567,565
Ensembl chr13:49,544,443...49,567,565
JBrowse link
G Ccr2 chemokine (C-C motif) receptor 2 ISO mRNA,protein:increased expression:neuron,macrophage: RGD PMID:24462503 RGD:8661788 NCBI chr 9:124,101,918...124,109,140
Ensembl chr 9:124,101,950...124,113,557
JBrowse link
G Cilp cartilage intermediate layer protein, nucleotide pyrophosphohydrolase ISO OMIM NCBI chr 9:65,265,180...65,280,614
Ensembl chr 9:65,265,180...65,280,605
JBrowse link
G Col11a1 collagen, type XI, alpha 1 ISO ClinVar Annotator: match by term: Intervertebral disc disease
ClinVar Annotator: match by term: Lumbar disc herniation, susceptibility to
OMIM
ClinVar
PMID:7695699 PMID:8218237 PMID:10612821 PMID:17999364 PMID:19344236 More... NCBI chr 3:114,030,479...114,220,756
Ensembl chr 3:114,030,540...114,220,718
JBrowse link
G Col1a1 collagen, type I, alpha 1 no_association ISO DNA:insertion
DNA:polymorphism
RGD PMID:18694864 PMID:15994869 RGD:5688295, RGD:5688297 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col9a3 collagen, type IX, alpha 3 ISO ClinVar Annotator: match by term: Intervertebral disc disease, susceptibility to OMIM
ClinVar
PMID:11308397 PMID:25741868 PMID:28492532 NCBI chr 2:180,598,102...180,622,192
Ensembl chr 2:180,597,790...180,622,189
JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO protein:increased expression:dorsal root ganglion, neuron, cytoplasm (rat) RGD PMID:21243740 RGD:9068928 NCBI chr12:73,901,324...73,947,554
Ensembl chr12:73,901,375...73,947,530
JBrowse link
G Mir155 microRNA 155 treatment ISO
IDA
miRNA:decreased expression:nucleus pulposus RGD PMID:27227700 PMID:27227700 RGD:24922221, RGD:24922221 NCBI chr16:84,714,140...84,714,204
Ensembl chr16:84,714,140...84,714,204
JBrowse link
G Thbs2 thrombospondin 2 ISO ClinVar Annotator: match by synonym: Lumbar disc herniation, susceptibility to OMIM
ClinVar
PMID:18455130 NCBI chr17:14,665,500...14,694,262
Ensembl chr17:14,665,500...14,694,235
JBrowse link
Intervertebral Disc Displacement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 thymoma viral proto-oncogene 1 disease_progression ISO RGD PMID:21590431 RGD:5509092 NCBI chr12:112,653,821...112,674,884
Ensembl chr12:112,653,821...112,674,884
JBrowse link
G Apoa4 apolipoprotein A-IV ISO protein:increased expression:cerebrospinal fluid RGD PMID:16372267 RGD:5685665 NCBI chr 9:46,240,844...46,243,458
Ensembl chr 9:46,240,696...46,243,459
JBrowse link
G Bdnf brain derived neurotrophic factor ISO protein:increased expression:dorsal root ganglion: RGD PMID:14615047 RGD:8657329 NCBI chr 2:109,674,700...109,727,043
Ensembl chr 2:109,674,700...109,727,007
JBrowse link
G Col11a1 collagen, type XI, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17999364 NCBI chr 3:114,030,479...114,220,756
Ensembl chr 3:114,030,540...114,220,718
JBrowse link
G Ctsl cathepsin L ISO protein:increased expression:annulus fibrosus (rat) RGD PMID:15758467 RGD:2315595 NCBI chr13:64,361,890...64,370,772
Ensembl chr13:64,359,337...64,370,890
JBrowse link
G Cx3cl1 chemokine (C-X3-C motif) ligand 1 ISO mRNA, protein:increased expression:spinal cord RGD PMID:21224760 RGD:4891907 NCBI chr 8:94,772,180...94,782,427
Ensembl chr 8:94,772,009...94,782,427
JBrowse link
G Cx3cr1 chemokine (C-X3-C motif) receptor 1 ISO protein:increased expression:spinal cord RGD PMID:21224760 RGD:4891907 NCBI chr 9:120,048,683...120,068,296
Ensembl chr 9:119,901,616...120,069,879
JBrowse link
G Gc vitamin D binding protein ISO protein:increased expression:cerebrospinal fluid RGD PMID:16868893 RGD:5509883 NCBI chr 5:89,417,511...89,457,898
Ensembl chr 5:89,417,522...89,457,898
JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:21037532 RGD:8549460 NCBI chr10:87,858,265...87,937,047
Ensembl chr10:87,858,265...87,937,042
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 ISO protein:increased expression:spinal cord: RGD PMID:29329586 RGD:40400909 NCBI chr 1:40,404,864...40,465,418
Ensembl chr 1:40,429,570...40,465,415
JBrowse link
G Il33 interleukin 33 ISO protein:increased expression:spinal cord: RGD PMID:29329586 RGD:40400909 NCBI chr19:29,925,113...29,960,718
Ensembl chr19:29,925,114...29,960,718
JBrowse link
G Mir223 microRNA 223 disease_progression ISO RGD PMID:28460630 RGD:25823200 NCBI chr  X:96,242,817...96,242,926
Ensembl chr  X:96,242,817...96,242,926
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:24826482 RGD:10450584 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b ISO human protein in rat model RGD PMID:21057386 RGD:5131270 NCBI chr 4:145,212,368...145,246,870
Ensembl chr 4:145,213,463...145,246,870
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr15:97,854,427...97,908,296
Ensembl chr15:97,854,425...97,910,630
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 ClinVar Annotator: match by OMIM:277300
ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive
ClinVar Annotator: match by term: Jarcho-Levin syndrome
ClinVar
OMIM
PMID:2805381 PMID:9536098 PMID:10742114 PMID:12791036 PMID:15200511 More... NCBI chr 7:28,293,555...28,301,785
Ensembl chr 7:28,293,553...28,302,238
JBrowse link
G Mesp2 mesoderm posterior 2 ISO ClinVar Annotator: match by term: Spondylothoracic Dysostosis
ClinVar Annotator: match by term: Jarcho-Levin syndrome
ClinVar PMID:25741868 NCBI chr 7:79,810,727...79,813,431
Ensembl chr 7:79,810,727...79,813,439
JBrowse link
G Plekhg2 pleckstrin homology domain containing, family G (with RhoGef domain) member 2 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:28,359,603...28,372,681
Ensembl chr 7:28,359,604...28,372,599
JBrowse link
Knobloch Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts18 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 18 ISO ClinVar Annotator: match by synonym: Knobloch syndrome 1 ClinVar PMID:21862674 PMID:23667181 NCBI chr 8:113,697,123...113,849,343
Ensembl chr 8:113,697,126...113,848,738
JBrowse link
G Col18a1 collagen, type XVIII, alpha 1 ISO ClinVar Annotator: match by term: Knobloch syndrome 1
ClinVar Annotator: match by OMIM:267750
ClinVar Annotator: match by term: RETINAL DETACHMENT AND OCCIPITAL ENCEPHALOCELE
OMIM
ClinVar
PMID:1554013 PMID:10942434 PMID:12415512 PMID:14695535 PMID:17546652 More... NCBI chr10:77,052,178...77,166,530
Ensembl chr10:77,052,178...77,166,548
JBrowse link
G Slc19a1 solute carrier family 19 (folate transporter), member 1 ISO ClinVar Annotator: match by term: Knobloch syndrome 1 ClinVar PMID:1554013 PMID:14695535 PMID:19390655 PMID:21862674 PMID:23667181 More... NCBI chr10:77,032,269...77,050,432
Ensembl chr10:77,032,241...77,061,002
JBrowse link
lateral meningocele syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch 3 ISO ClinVar Annotator: match by term: Lehman syndrome
ClinVar Annotator: match by term: Lateral meningocele syndrome
ClinVar
OMIM
PMID:9188658 PMID:15666314 PMID:21337686 PMID:23696373 PMID:24086431 More... NCBI chr17:32,120,820...32,166,896
Ensembl chr17:32,120,820...32,166,852
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: DYSENCEPHALIA SPLANCHNOCYSTICA
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar PMID:18950740 PMID:19777577 PMID:22241855 PMID:22425360 PMID:23012439 More... NCBI chr 5:43,662,374...43,740,975
Ensembl chr 5:43,662,346...43,740,972
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 chr10:100,487,548...100,575,671
Ensembl chr10:100,487,558...100,574,840
JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO
IAGP
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar Annotator: match by term: Meckel syndrome type 1
DNA:splice-site mutations:intron:c.870-2A>G, c.1546+1G¿¿¿>A (human)
DNA:deletion:intron:IVS15-7_35del (human)
DNA:splice-site mutation:intron:c.515 + 6T>C (mouse)
DNA:missense mutations, splice-site mutations:exon:c.417G>A, c.958G>A (p.V320I), c.1490G>A (p.R497K) (human)
ClinVar Annotator: match by OMIM:249000
ClinVar Annotator: match by null
OMIM
ClinVar
RGD
PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 More... RGD:11535078, RGD:11535074, RGD:11535068, RGD:11535065, RGD:11063991 NCBI chr11:87,853,182...87,863,803
Ensembl chr11:87,853,215...87,863,803
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 8:91,217,030...91,313,291
Ensembl chr 8:91,217,030...91,313,262
JBrowse link
G Snord118 small nucleolar RNA, C/D box 118 ISO ClinVar Annotator: match by term: Meckel syndrome type 1 ClinVar PMID:25741868 PMID:27571260 NCBI chr11:69,073,426...69,073,562
Ensembl chr11:69,073,427...69,073,561
JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Meckel syndrome type 1 ClinVar PMID:25741868 PMID:27571260 NCBI chr11:69,070,809...69,073,293
Ensembl chr11:69,070,806...69,073,293
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 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020
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 ClinVar Annotator: match by term: MECKEL SYNDROME 13 ClinVar
OMIM
PMID:26123494 PMID:26595381 NCBI chr11:69,070,809...69,073,293
Ensembl chr11:69,070,806...69,073,293
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 ClinVar Annotator: match by term: Meckel syndrome, type 2
ClinVar Annotator: match by term: Meckel syndrome type 2
ClinVar Annotator: match by OMIM:603194
DNA:missense,frameshift,nonsense mutations:cds,splice junction:
OMIM
ClinVar
RGD
PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 More... RGD:11067331 NCBI chr19:10,539,326...10,556,297
Ensembl chr19:10,533,865...10,556,238
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
IAGP
ClinVar Annotator: match by term: Meckel syndrome, type 3
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3
ClinVar Annotator: match by term: Meckel syndrome type 3
DNA:deletion
DNA:deletions, missense mutation, splice-site mutations: :multiple
DNA:missense mutation:exon:p.P394L (rat)
DNA:missense mutation:exon:p.R549C (c.1645C>T) (human)
DNA:missense mutations: :p.M252T (c.755T>C), p.R441C (c.1392C>T) (human)
DNA:missense mutations:exon: p.M252T (755T>C), p.R440Q (1319G>A), p.L966P (2897T>C) (human)
DNA:missense mutations, splice-site mutation:exon:multiple
ClinVar Annotator: match by OMIM:607361
OMIM
ClinVar
RGD
PMID:2929661 PMID:9375913 PMID:16415887 PMID:16541367 PMID:17160906 More... RGD:11535945, RGD:11535082, RGD:11535082, RGD:11535080, RGD:11535078, RGD:11068761, RGD:11063991 NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020
JBrowse link
Meckel syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930430F08Rik RIKEN cDNA 4930430F08 gene ISO ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:28492532 NCBI chr10:100,572,274...100,589,390
Ensembl chr10:100,572,265...100,590,423
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4
ClinVar Annotator: match by term: Meckel syndrome type 4
ClinVar Annotator: match by OMIM:611134
DNA:frameshift mutation:exon:c.5489del (human)
OMIM
ClinVar
RGD
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... RGD:11070805 NCBI chr10:100,487,548...100,575,671
Ensembl chr10:100,487,558...100,574,840
JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:33791682 NCBI chr 9:37,208,223...37,223,228
Ensembl chr 9:37,208,223...37,224,700
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 ClinVar Annotator: match by term: Meckel syndrome, type 5
ClinVar Annotator: match by term: Meckel syndrome type 5
ClinVar Annotator: match by OMIM:611561
OMIM
ClinVar
PMID:17558409 PMID:18414213 PMID:19430481 PMID:20301500 PMID:21068128 More... NCBI chr 8:91,217,030...91,313,291
Ensembl chr 8:91,217,030...91,313,262
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 ClinVar Annotator: match by term: Meckel syndrome type 6
ClinVar Annotator: match by term: Meckel syndrome, type 6
ClinVar Annotator: match by OMIM:612284
OMIM
ClinVar
PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 5:43,662,374...43,740,975
Ensembl chr 5:43,662,346...43,740,972
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 chr10:100,487,548...100,575,671
Ensembl chr10:100,487,558...100,574,840
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 chr 5:124,598,749...124,627,738
Ensembl chr 5:124,598,749...124,627,738
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 ClinVar Annotator: match by term: Meckel syndrome 12 ClinVar
OMIM
PMID:24128419 PMID:25741868 NCBI chr 1:136,466,301...136,555,938
Ensembl chr 1:136,466,343...136,531,511
JBrowse link
parietal foramina term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 aristaless-like homeobox 4 ISO
IEA
ClinVar Annotator: match by term: Enlarged parietal foramina
CTD Direct Evidence: marker/mechanism
OMIM:168500 | OMIM:609566 | OMIM:609597
ClinVar
CTD
MouseDO
PMID:11137991 NCBI chr 2:93,642,434...93,681,341
Ensembl chr 2:93,642,384...93,681,339
JBrowse link
G Msx2 msh homeobox 2 ISO
IEA
ClinVar Annotator: match by term: Enlarged parietal foramina
CTD Direct Evidence: marker/mechanism
OMIM:168500 | OMIM:609566 | OMIM:609597
ClinVar Annotator: match by term: Parietal foramina
ClinVar
CTD
MouseDO
PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 More... NCBI chr13:53,466,881...53,472,780
Ensembl chr13:53,466,884...53,473,074
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 ClinVar Annotator: match by null
ClinVar Annotator: match by term: Parietal foramina 1
ClinVar
OMIM
PMID:10742103 PMID:10767351 PMID:16222674 PMID:25741868 PMID:28492532 NCBI chr13:53,466,881...53,472,780
Ensembl chr13:53,466,884...53,473,074
JBrowse link
Parietal Foramina 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 aristaless-like homeobox 4 ISO ClinVar Annotator: match by term: Parietal foramina 2
ClinVar Annotator: match by OMIM:609597
OMIM
ClinVar
PMID:11106354 PMID:11137991 PMID:16319823 PMID:22829454 PMID:24764194 More... NCBI chr 2:93,642,434...93,681,341
Ensembl chr 2:93,642,384...93,681,339
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 ClinVar Annotator: match by null OMIM
ClinVar
PMID:14571277 NCBI chr13:53,466,881...53,472,780
Ensembl chr13:53,466,884...53,473,074
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 ClinVar Annotator: match by term: Smith-Kingsmore syndrome OMIM
ClinVar
PMID:23636326 PMID:24631838 PMID:25741868 PMID:25851998 PMID:26542245 More... NCBI chr 4:148,448,582...148,557,685
Ensembl chr 4:148,448,611...148,557,683
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 chr 3:32,708,546...32,726,973
Ensembl chr 3:32,706,298...32,726,973
JBrowse link
G Chrna7 cholinergic receptor, nicotinic, alpha polypeptide 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22473653 NCBI chr 7:63,098,692...63,212,526
Ensembl chr 7:63,098,692...63,212,569
JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 IMP RGD PMID:21238647 RGD:11567270 NCBI chr 8:25,518,759...25,575,718
Ensembl chr 8:25,513,654...25,575,718
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 IMP RGD PMID:21238647 RGD:11567270 NCBI chr 7:130,162,451...130,266,808
Ensembl chr 7:130,162,451...133,123,350
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr19:17,432,314...17,837,712
Ensembl chr19:17,432,319...17,837,632
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Umbilical hernias ClinVar PMID:25741868 NCBI chr 4:147,909,753...147,936,776
Ensembl chr 4:147,909,753...147,936,767
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14615
    Pathological Conditions, Signs and Symptoms 9549
      Anatomical Pathological Conditions 1930
        enterocele 184
          Abdominal Hernia + 22
          Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 0
          Diaphragmatic Hernia + 116
          Encephalocele + 20
          Hernia, Obturator 0
          Incisional Hernia 0
          Intervertebral Disc Displacement + 23
          Megarbane Syndrome 0
          Rectocele 0
          meningocele + 7
Path 2
Term Annotations click to browse term
  disease 14615
    disease of anatomical entity 14222
      Urogenital Diseases 4102
        Female Urogenital Diseases and Pregnancy Complications 2061
          Female Urogenital Diseases 1758
            female reproductive system disease 1754
              prolapse of female genital organ 184
                enterocele 184
                  Abdominal Hernia + 22
                  Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 0
                  Diaphragmatic Hernia + 116
                  Encephalocele + 20
                  Hernia, Obturator 0
                  Incisional Hernia 0
                  Intervertebral Disc Displacement + 23
                  Megarbane Syndrome 0
                  Rectocele 0
                  meningocele + 7
paths to the root