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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:A prolapse of female genital organ that is characterized by the descent of a peritoneal sac containing small bowel into the rectovagnial space causing a bulge in the posterior vaginal wall. (DO)
Synonyms:exact_synonym: hernia;   hernias
 narrow_synonym: vaginal enterocele
 primary_id: MESH:D006547
 xref: EFO:0020006;   ICD10CM:K46;   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 chr19:40,538,701...40,576,907
Ensembl chr19:40,538,701...40,576,907 		JBrowse link
G Efemp1 epidermal growth factor-containing fibulin-like extracellular matrix protein 1 IMP RGD PMID:17872905 RGD:10401789 NCBI chr11:28,803,154...28,876,743
Ensembl chr11:28,803,204...28,876,743 		JBrowse link
Anterior Diaphragmatic Hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pls3 plastin 3 (T-isoform) ISO ClinVar Annotator: match by term: Hernia, anterior diaphragmatic | ClinVar Annotator: match by term: PLS3-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:37751738 NCBI chr  X:74,829,259...74,918,788
Ensembl chr  X:74,829,260...74,918,788 		JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpk1 alpha-kinase 1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,460,367...127,574,195
Ensembl chr 3:127,463,959...127,574,176 		JBrowse link
G Ank2 ankyrin 2, brain ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:126,715,256...127,293,996
Ensembl chr 3:126,715,261...127,292,999 		JBrowse link
G Ap1ar adaptor-related protein complex 1 associated regulatory protein ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,600,656...127,631,148
Ensembl chr 3:127,600,656...127,631,172 		JBrowse link
G Fam241a family with sequence similarity 241, member A ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,663,337...127,689,972
Ensembl chr 3:127,662,707...127,689,973 		JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 IAGP OMIM:180500 MouseDO NCBI chr 4:133,692,050...133,695,302
Ensembl chr 4:133,692,049...133,695,961 		JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,330,363...127,346,998
Ensembl chr 3:127,330,363...127,346,998 		JBrowse link
G Mir302a microRNA 302a ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,339,145...127,339,213
Ensembl chr 3:127,339,145...127,339,213 		JBrowse link
G Mir302b microRNA 302b ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,338,877...127,338,950
Ensembl chr 3:127,338,877...127,338,950 		JBrowse link
G Mir302c microRNA 302c ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,339,012...127,339,079
Ensembl chr 3:127,339,012...127,339,079 		JBrowse link
G Mir302d microRNA 302d ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,339,273...127,339,338
Ensembl chr 3:127,339,273...127,339,338 		JBrowse link
G Mir367 microRNA 367 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,339,382...127,339,456
Ensembl chr 3:127,339,382...127,339,456 		JBrowse link
G Neurog2 neurogenin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,426,382...127,429,285
Ensembl chr 3:127,426,784...127,429,280 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 ISO
IAGP		 ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
OMIM:180500		 OMIM
ClinVar
MouseDO		 PMID:8944018 PMID:9536098 PMID:9685346 PMID:10490637 PMID:11301317 More... NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240 		JBrowse link
G Prdm5 PR domain containing 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 6:65,754,640...65,914,606
Ensembl chr 6:65,755,972...65,913,994 		JBrowse link
G Tifa TRAF-interacting protein with forkhead-associated domain ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,582,524...127,592,043
Ensembl chr 3:127,583,454...127,625,813 		JBrowse link
G Zgrf1 zinc finger, GRF-type containing 1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,347,080...127,411,672
Ensembl chr 3:127,347,138...127,411,672 		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 regression sequence | ClinVar Annotator: match by term: Sacral defect with anterior meningocele ClinVar PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532 NCBI chr 3:101,993,731...102,053,830
Ensembl chr 3:101,993,731...102,053,830 		JBrowse link
G Cdx2 caudal type homeobox 2 ISO ClinVar Annotator: match by term: Sirenomelia ClinVar PMID:25741868 NCBI chr 5:147,237,710...147,244,059
Ensembl chr 5:147,237,615...147,244,080 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr19:17,409,678...17,815,076
Ensembl chr19:17,409,683...17,814,996 		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 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604 		JBrowse link
G Vangl1 VANGL planar cell polarity 1 ISO ClinVar Annotator: match by term: Caudal regression sequence | ClinVar Annotator: match by term: Sacral defect with anterior meningocele
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:17409324 PMID:19319979 PMID:22892949 PMID:24033266 PMID:24307374 More... NCBI chr 3:102,060,899...102,112,012
Ensembl chr 3:102,060,899...102,112,009 		JBrowse link
G Zbtb16 zinc finger and BTB domain containing 16 ISO RGD PMID:27727328 RGD:40924666 NCBI chr 9:48,563,097...48,747,525
Ensembl chr 9:48,565,597...48,747,522 		JBrowse link
congenital diaphragmatic hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO protein:increased activity:lung (rat) RGD PMID:9498404 RGD:12859277 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO RGD PMID:22113494 RGD:6903875 NCBI chr  X:21,350,863...21,355,072
Ensembl chr  X:21,350,783...21,355,403 		JBrowse link
G Atp7a ATPase, copper transporting, alpha polypeptide ISO mRNA, protein:decreased expression:diaphragm (rat) RGD PMID:25319798 RGD:11341670 NCBI chr  X:105,070,830...105,171,766
Ensembl chr  X:105,070,882...105,168,532 		JBrowse link
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Unilateral agenesis of diaphragm ClinVar PMID:25741868 PMID:28492532 NCBI chr14:30,973,358...30,981,887
Ensembl chr14:30,973,407...30,981,901 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO mRNA:decreased expression:heart: RGD PMID:18280291 RGD:9068407 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G Cbl Casitas B-lineage lymphoma ISO mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: RGD PMID:23143077 RGD:11038813 NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30418988 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20939759 PMID:21258935 NCBI chr10:24,471,340...24,474,581
Ensembl chr10:24,471,340...24,474,581 		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 1:75,336,936...75,345,223
Ensembl chr 1:75,336,973...75,345,223 		JBrowse link
G Eln elastin ISO mRNA,protein:increased expression:lung: RGD PMID:12194112 RGD:9585688 NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177 		JBrowse link
G Ep300 E1A binding protein p300 ISO mRNA:decreased expression:lung RGD PMID:24488106 RGD:9588310 NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27880037 NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:23806086 PMID:24088041 PMID:25736269 NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		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 PMID:28492532 PMID:33443296 NCBI chr 5:108,842,051...108,854,816
Ensembl chr 5:108,840,248...108,854,790 		JBrowse link
G Foxc2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634 		JBrowse link
G Foxf1 forkhead box F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr 8:121,811,100...121,814,883
Ensembl chr 8:121,811,125...121,814,883 		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 5:96,518,622...96,932,592
Ensembl chr 5:96,521,814...96,932,587 		JBrowse link
G Frem1 Fras1 related extracellular matrix protein 1 ISO
IAGP		 DNA:deletion, frame shift:cds, splice junction:
ClinVar Annotator: match by term: Agenesis of hemidiaphragm
OMIM:142340 | OMIM:222400 | OMIM:610187
CTD Direct Evidence: marker/mechanism
mRNA,protein:decreased expression:diaphragm:		 ClinVar
MouseDO
CTD
RGD		 PMID:23221805 PMID:23806086 PMID:24088041 PMID:25736269 PMID:25741868 More... RGD:11554181, RGD:11554195, RGD:11554181 NCBI chr 4:82,816,157...82,970,743
Ensembl chr 4:82,816,164...82,970,576 		JBrowse link
G Frem2 Fras1 related extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm | ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 PMID:30143558 NCBI chr 3:53,421,359...53,566,014
Ensembl chr 3:53,421,359...53,564,776 		JBrowse link
G Gata4 GATA binding protein 4 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
OMIM:142340 | OMIM:222400 | OMIM:610187		 CTD
MouseDO		 PMID:23426975 NCBI chr14:63,436,363...63,509,161
Ensembl chr14:63,436,371...63,509,141 		JBrowse link
G Gata6 GATA binding protein 6 ISO mRNA:decreased expression:heart (rat)
ClinVar Annotator: match by term: Agenesis of hemidiaphragm | ClinVar Annotator: match by term: DIH		 ClinVar
RGD		 PMID:22158542 PMID:24385578 PMID:25741868 PMID:18280291 RGD:9068407 NCBI chr18:11,052,510...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 chr13:15,638,308...15,904,611
Ensembl chr13:15,637,820...15,904,611 		JBrowse link
G Htr2a 5-hydroxytryptamine (serotonin) receptor 2A ISO mRNA, protein:increased expression:lung RGD PMID:24888825 RGD:401901089 NCBI chr14:74,878,314...74,944,299
Ensembl chr14:74,878,280...74,946,934 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO mRNA:decreased expression:heart (rat) RGD PMID:11409163 RGD:12904929 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Igf1r insulin-like growth factor I receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416 		JBrowse link
G Igf2 insulin-like growth factor 2 treatment ISO RGD PMID:24352370 RGD:10402563 NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr17:12,901,293...12,988,593
Ensembl chr17:12,901,293...12,988,551 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO RGD PMID:19844724 RGD:10402761 NCBI chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923 		JBrowse link
G Igfbp5 insulin-like growth factor binding protein 5 ISO RGD PMID:19844724 RGD:10402761 NCBI chr 1:72,897,224...72,914,024
Ensembl chr 1:72,897,091...72,914,043 		JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21433279 NCBI chr 8:3,200,922...3,329,649
Ensembl chr 8:3,172,061...3,329,617 		JBrowse link
G Kcnq5 potassium voltage-gated channel, subfamily Q, member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28189443 NCBI chr 1:21,468,623...22,032,874
Ensembl chr 1:21,468,627...22,032,166 		JBrowse link
G Kif7 kinesin family member 7 ISO
IAGP		 mRNA,protein:decreased expression:diaphragmatic mesenchyme, pulmonary mesenchyme;
OMIM:142340 | OMIM:222400 | OMIM:610187		 MouseDO
RGD		 PMID:25921351 RGD:11553839 NCBI chr 7:79,347,846...79,365,520
Ensembl chr 7:79,347,846...79,365,468 		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 2:32,274,649...32,277,751
Ensembl chr 2:32,274,645...32,278,264 		JBrowse link
G Lrp1 low density lipoprotein receptor-related protein 1 IAGP OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr10:127,374,026...127,457,158
Ensembl chr10:127,374,030...127,457,017 		JBrowse link
G Lztr1 leucine-zipper-like transcriptional regulator, 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 More... NCBI chr16:17,326,124...17,344,197
Ensembl chr16:17,326,552...17,344,197 		JBrowse link
G Met met proto-oncogene ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:14559814 PMID:21970370 PMID:22703879 PMID:23806086 PMID:24088041 More... NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979 		JBrowse link
G Mn1 meningioma 1 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868 PMID:31834374 NCBI chr 5:111,565,145...111,604,890
Ensembl chr 5:111,565,228...111,604,899 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:24033266 PMID:25741868 PMID:26445815 PMID:27375115 PMID:28492532 NCBI chr11:60,360,165...60,419,195
Ensembl chr11:60,360,165...60,419,195 		JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258934 NCBI chr 7:46,025,898...46,028,516
Ensembl chr 7:46,025,898...46,028,523 		JBrowse link
G Myrf myelin regulatory factor ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Agenesis of hemidiaphragm		 ClinVar
RGD		 PMID:25741868 PMID:30532227 PMID:30532227 RGD:200226345 NCBI chr19:10,185,635...10,218,134
Ensembl chr19:10,185,636...10,218,112 		JBrowse link
G Ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 IAGP OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr18:60,817,566...60,907,465
Ensembl chr18:60,817,566...60,881,722 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO protein:decreased expression:pulmonary artery (rat) RGD PMID:29216632 RGD:13504720 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		JBrowse link
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 IAGP OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 7:70,001,694...70,016,494
Ensembl chr 7:70,001,692...70,016,483 		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 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771 		JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide IAGP OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876 		JBrowse link
G Pgap3 post-GPI attachment to proteins 3 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868 PMID:30345601 NCBI chr11:98,279,498...98,292,022
Ensembl chr11:98,279,503...98,291,316 		JBrowse link
G Pim1 proviral integration site 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr17:29,709,759...29,715,085
Ensembl chr17:29,709,727...29,715,086 		JBrowse link
G Pls3 plastin 3 (T-isoform) IAGP
ISO		 OMIM:142340 | OMIM:222400 | OMIM:610187
ClinVar Annotator: match by term: Congenital diaphragmatic hernia		 MouseDO
ClinVar		 PMID:25741868 PMID:37751738 NCBI chr  X:74,829,259...74,918,788
Ensembl chr  X:74,829,260...74,918,788 		JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr 9:108,183,359...108,215,142
Ensembl chr 9:108,183,328...108,215,133 		JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr 9:37,313,198...37,325,319
Ensembl chr 9:37,313,193...37,326,411 		JBrowse link
G Sftpa1 surfactant associated protein A1 treatment ISO RGD PMID:11051153 RGD:151667435 NCBI chr14:40,853,745...40,858,330
Ensembl chr14:40,853,739...40,858,409 		JBrowse link
G Sftpb surfactant associated protein B treatment ISO RGD PMID:11051153 RGD:151667435 NCBI chr 6:72,281,594...72,291,354
Ensembl chr 6:72,281,594...72,291,354 		JBrowse link
G Slc6a4 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 ISO protein:increased expression:lung RGD PMID:24888825 RGD:401901089 NCBI chr11:76,889,423...76,923,169
Ensembl chr11:76,889,429...76,923,166 		JBrowse link
G Slit2 slit guidance ligand 2 ISO mRNA:increased expression:lung RGD PMID:19944214 RGD:243048459 NCBI chr 5:48,138,633...48,465,077
Ensembl chr 5:48,140,480...48,465,075 		JBrowse link
G Slit3 slit guidance ligand 3 IAGP
ISO		 OMIM:142340 | OMIM:222400 | OMIM:610187
mRNA:increased expression:lung		 MouseDO
RGD		 PMID:19944214 RGD:243048459 NCBI chr11:35,012,283...35,599,334
Ensembl chr11:35,012,051...35,599,334 		JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Sox7 SRY (sex determining region Y)-box 7 IAGP OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr14:64,181,155...64,188,181
Ensembl chr14:64,181,122...64,188,181 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:10541330 RGD:12904053 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:decreased expression:lung: RGD PMID:15879288 RGD:7421593 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Wnt11 wingless-type MMTV integration site family, member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr 7:98,484,293...98,503,954
Ensembl chr 7:98,484,319...98,504,402 		JBrowse link
G Wt1 WT1 transcription factor ISO
IAGP		 CTD Direct Evidence: marker/mechanism
OMIM:142340 | OMIM:222400 | OMIM:610187		 CTD
MouseDO		 PMID:21072664 NCBI chr 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961 		JBrowse link
G Zfpm2 zinc finger protein, multitype 2 IAGP OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr15:40,518,438...40,967,988
Ensembl chr15:40,518,431...40,967,988 		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 chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a EXP CTD Direct Evidence: marker/mechanism CTD PMID:16292651 NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850 		JBrowse link
G Agtr1b angiotensin II receptor, type 1b EXP CTD Direct Evidence: marker/mechanism CTD PMID:16292651 NCBI chr 3:20,368,637...20,421,341
Ensembl chr 3:20,368,637...20,421,341 		JBrowse link
G Aqp5 aquaporin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17245593 PMID:17270560 NCBI chr15:99,488,909...99,492,710
Ensembl chr15:99,488,663...99,492,710 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G Cftr cystic fibrosis transmembrane conductance regulator ISO CTD Direct Evidence: therapeutic CTD PMID:16473863 NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767 		JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466 		JBrowse link
G Ednra endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chr 8:78,389,658...78,451,081
Ensembl chr 8:78,389,660...78,451,093 		JBrowse link
G Ednrb endothelin receptor type B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10693666 NCBI chr14:104,052,055...104,081,764
Ensembl chr14:104,052,061...104,081,838 		JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:10359170 NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177 		JBrowse link
G Fgf18 fibroblast growth factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303798 NCBI chr11:33,066,970...33,097,400
Ensembl chr11:33,067,430...33,097,400 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10646786 NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257 		JBrowse link
G Foxa2 forkhead box A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16863852 NCBI chr 2:147,884,797...147,888,889
Ensembl chr 2:147,884,797...147,888,889 		JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr14:63,436,363...63,509,161
Ensembl chr14:63,436,371...63,509,141 		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 chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
G Hoxa5 homeobox A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chr 6:52,178,768...52,181,437
Ensembl chr 6:52,178,734...52,181,567 		JBrowse link
G Hoxb3 homeobox B3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chr11:96,197,927...96,238,756
Ensembl chr11:96,214,152...96,238,756 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12759764 PMID:17245593 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18500730 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Kcna2 potassium voltage-gated channel, shaker-related subfamily, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr 3:106,998,203...107,022,321
Ensembl chr 3:107,008,462...107,022,321 		JBrowse link
G Kcnb1 potassium voltage gated channel, Shab-related subfamily, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr 2:166,937,889...167,032,088
Ensembl chr 2:166,937,889...167,032,075 		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 chr14:23,342,356...24,055,173
Ensembl chr14:23,339,499...24,064,559 		JBrowse link
G Lrp2 low density lipoprotein receptor-related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chr 2:69,254,679...69,416,373
Ensembl chr 2:69,254,684...69,416,409 		JBrowse link
G Myod1 myogenic differentiation 1 ISO mRNA:decreased expression:diaphragm RGD PMID:21258934 RGD:9686080 NCBI chr 7:46,025,898...46,028,516
Ensembl chr 7:46,025,898...46,028,523 		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 chr12:56,578,741...56,583,570
Ensembl chr12:56,578,743...56,583,693 		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 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		JBrowse link
G Nppa natriuretic peptide type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11584395 NCBI chr 4:148,085,179...148,086,531
Ensembl chr 4:148,085,179...148,086,536 		JBrowse link
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr 7:70,001,694...70,016,494
Ensembl chr 7:70,001,692...70,016,483 		JBrowse link
G Pax3 paired box 3 ISO mRNA:decreased expression:heart (rat) RGD PMID:15616818 RGD:1580942 NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771 		JBrowse link
G Rxra retinoid X receptor alpha ISO mRNA:increased expression:lung RGD PMID:17270546 RGD:1643107 NCBI chr 2:27,566,457...27,653,331
Ensembl chr 2:27,566,452...27,652,969 		JBrowse link
G Sftpb surfactant associated protein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10830305 PMID:16863852 NCBI chr 6:72,281,594...72,291,354
Ensembl chr 6:72,281,594...72,291,354 		JBrowse link
G Sftpc surfactant associated protein C ISO CTD Direct Evidence: marker/mechanism CTD PMID:10751355 NCBI chr14:70,758,381...70,761,521
Ensembl chr14:70,758,389...70,761,521 		JBrowse link
G Slit3 slit guidance ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr11:35,012,283...35,599,334
Ensembl chr11:35,012,051...35,599,334 		JBrowse link
G Stra6 stimulated by retinoic acid gene 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chr 9:57,971,076...58,061,287
Ensembl chr 9:57,971,071...58,061,279 		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 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Thra thyroid hormone receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chr11:98,631,539...98,659,832
Ensembl chr11:98,631,464...98,659,832 		JBrowse link
G Thrb thyroid hormone receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chr14:4,429,599...4,810,538
Ensembl chr14:4,431,611...4,809,435 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10541330 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Uchl1 ubiquitin carboxy-terminal hydrolase L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18958481 NCBI chr 5:66,833,464...66,844,577
Ensembl chr 5:66,833,434...66,844,577 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12759764 NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337 		JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961 		JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr15:40,518,438...40,967,988
Ensembl chr15:40,518,431...40,967,988 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:14517948 PMID:16103912 PMID:17568391 PMID:20807224 PMID:21919901 More... NCBI chr15:40,518,438...40,967,988
Ensembl chr15:40,518,431...40,967,988 		JBrowse link
Diaphragmatic Hernia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh1a2 aldehyde dehydrogenase family 1, subfamily A2 ISO ClinVar Annotator: match by term: ALDH1A2-related condition | ClinVar Annotator: match by term: Diaphragmatic hernia 4, with cardiovascular defects OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33565183 NCBI chr 9:71,123,071...71,203,525
Ensembl chr 9:71,123,071...71,203,525 		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 1:24,716,073...24,805,382
Ensembl chr 1:24,717,711...24,805,382 		JBrowse link
G Lrp2 low density lipoprotein receptor-related protein 2 ISO
IAGP		 ClinVar Annotator: match by term: DBS/FOAR SYNDROME | ClinVar Annotator: match by term: Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria | ClinVar Annotator: match by term: Donnai-Barrow syndrome | ClinVar Annotator: match by term: LRP2-related condition
CTD Direct Evidence: marker/mechanism
OMIM:222448		 OMIM
ClinVar
CTD
MouseDO		 PMID:8266995 PMID:9475100 PMID:9536098 PMID:12923867 PMID:16199547 More... NCBI chr 2:69,254,679...69,416,373
Ensembl chr 2:69,254,684...69,416,409 		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:19777577 PMID:25741868 PMID:26862157 PMID:28492532 PMID:31680349 NCBI chr 5:43,819,715...43,898,317
Ensembl chr 5:43,819,688...43,898,314 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Encephalocele | ClinVar Annotator: match by term: Occipital encephalocele ClinVar PMID:16909394 PMID:17345604 PMID:17564967 PMID:17564974 PMID:17705300 More... NCBI chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		JBrowse link
G Dnai3 dynein axonemal intermediate chain 3 ISO ClinVar Annotator: match by term: Occipital encephalocele ClinVar PMID:29285825 NCBI chr 3:145,746,281...145,813,855
Ensembl chr 3:145,746,281...145,813,885 		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 chr14:99,336,892...99,492,335
Ensembl chr14:99,336,860...99,491,929 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890 		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 4:118,219,937...118,266,483
Ensembl chr 4:118,219,940...118,266,470 		JBrowse link
Galloway-Mowat syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:31481669 NCBI chr12:102,719,534...102,724,069
Ensembl chr12:102,719,534...102,724,062 		JBrowse link
G Lage3 L antigen family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:73,395,768...73,397,224
Ensembl chr  X:73,394,882...73,397,224 		JBrowse link
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:28106320 PMID:28492532 NCBI chr 8:124,623,862...124,676,019
Ensembl chr 8:124,623,862...124,676,004 		JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Galloway-Mowat syndrome		 CTD
ClinVar		 PMID:17897280 PMID:25741868 PMID:28272532 PMID:28805828 NCBI chr14:51,152,831...51,162,350
Ensembl chr14:51,143,935...51,162,350 		JBrowse link
G Tprkb Tp53rk binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 6:85,888,842...85,907,266
Ensembl chr 6:85,888,847...85,907,266 		JBrowse link
G Trp53rka transformation related protein 53 regulating kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 2:165,332,032...165,335,244
Ensembl chr 2:165,332,030...165,335,244 		JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr17:31,713,296...31,738,946
Ensembl chr17:31,713,296...31,738,954 		JBrowse link
G Wdr73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Galloway-Mowat syndrome		 CTD
ClinVar		 PMID:25466283 PMID:25741868 NCBI chr 7:80,540,471...80,551,017
Ensembl chr 7:80,540,471...80,551,017 		JBrowse link
G Zfp592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr 7:80,643,432...80,694,912
Ensembl chr 7:80,643,429...80,694,912 		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 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681 		JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition OMIM
ClinVar		 PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More... NCBI chr 7:80,540,471...80,551,017
Ensembl chr 7:80,540,471...80,551,017 		JBrowse link
G Zfp592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chr 7:80,643,432...80,694,912
Ensembl chr 7:80,643,429...80,694,912 		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 Annotator: match by term: YRDC-related condition ClinVar PMID:28492532 PMID:31481669 NCBI chr 4:124,743,284...124,744,479
Ensembl chr 4:124,742,873...124,744,989 		JBrowse link
G Yrdc yrdC domain containing (E.coli) ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 | ClinVar Annotator: match by term: YRDC-related condition OMIM
ClinVar		 PMID:28492532 PMID:31481669 PMID:34545459 NCBI chr 4:124,744,552...124,749,035
Ensembl chr 4:124,744,472...124,749,035 		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: LAGE3-related condition OMIM
ClinVar		 PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 NCBI chr  X:73,395,768...73,397,224
Ensembl chr  X:73,394,882...73,397,224 		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: OSGEP-related condition ClinVar PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 PMID:33532864 More... NCBI chr14:51,162,126...51,162,598 JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 | ClinVar Annotator: match by term: OSGEP-related condition OMIM
ClinVar		 PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chr14:51,152,831...51,162,350
Ensembl chr14:51,143,935...51,162,350 		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: TP53RK-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 PMID:36873107 NCBI chr 2:165,332,032...165,335,244
Ensembl chr 2:165,332,030...165,335,244 		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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 NCBI chr 6:85,888,842...85,907,266
Ensembl chr 6:85,888,847...85,907,266 		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 OMIM
ClinVar		 PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 More... NCBI chr17:31,713,296...31,738,946
Ensembl chr17:31,713,296...31,738,954 		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:28492532 More... NCBI chr10:117,586,526...117,628,607
Ensembl chr10:117,586,526...117,628,610 		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: NUP133-related condition OMIM
ClinVar		 PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 NCBI chr 8:124,623,862...124,676,019
Ensembl chr 8:124,623,862...124,676,004 		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:25741868 PMID:31481669 NCBI chr12:102,719,534...102,724,069
Ensembl chr12:102,719,534...102,724,062 		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 5:34,731,008...34,789,652
Ensembl chr 5:34,731,008...34,789,652 		JBrowse link
G Igf1r insulin-like growth factor I receptor ISO protein:increased expression:liver, intestine (rat) RGD PMID:23381816 RGD:12904922 NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase severity ISO protein:decreased expression:intestine: RGD PMID:15486901 RGD:12910745 NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382 		JBrowse link
G Lrp1 low density lipoprotein receptor-related protein 1 IAGP OMIM:230750 MouseDO NCBI chr10:127,374,026...127,457,158
Ensembl chr10:127,374,030...127,457,017 		JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO protein:increased expression:intestine (rat) RGD PMID:21960425 RGD:5508749 NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080 		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: Hiatus hernia ClinVar NCBI chr13:48,816,512...48,819,983
Ensembl chr13:48,816,474...48,819,983 		JBrowse link
G Fam120a family with sequence similarity 120, member A ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr13:49,032,692...49,121,754
Ensembl chr13:49,032,695...49,121,493 		JBrowse link
G Fbp1 fructose bisphosphatase 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr13:63,012,567...63,036,112
Ensembl chr13:63,012,567...63,036,096 		JBrowse link
G Fbp2 fructose bisphosphatase 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr13:62,984,698...63,006,214
Ensembl chr13:62,984,691...63,006,236 		JBrowse link
G Mfsd14b major facilitator superfamily domain containing 14B ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr13:65,212,843...65,260,813
Ensembl chr13:65,212,477...65,260,789 		JBrowse link
G Mirlet7a-1 microRNA let7a-1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr13:48,691,655...48,691,748
Ensembl chr13:48,691,655...48,691,748 		JBrowse link
G Mirlet7d microRNA let7d ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr13:48,689,488...48,689,590
Ensembl chr13:48,689,488...48,689,590 		JBrowse link
G Mirlet7f-1 microRNA let7f-1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr13:48,691,305...48,691,393
Ensembl chr13:48,691,305...48,691,393 		JBrowse link
G Phf2 PHD finger protein 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr13:48,955,226...49,024,361
Ensembl chr13:48,955,226...49,024,595 		JBrowse link
G Ptpdc1 protein tyrosine phosphatase domain containing 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr13:48,731,345...48,779,148
Ensembl chr13:48,731,348...48,779,140 		JBrowse link
G Zfp169 zinc finger protein 169 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr13:48,634,239...48,666,969
Ensembl chr13:48,641,123...48,666,927 		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:19215055 PMID:25741868 PMID:28649782 PMID:31994175 NCBI chr 3:32,762,695...32,781,122
Ensembl chr 3:32,760,447...32,781,122 		JBrowse link
G Col5a1 collagen, type V, alpha 1 ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:25741868 NCBI chr 2:27,776,393...27,929,522
Ensembl chr 2:27,776,437...27,929,526 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:25741868 NCBI chr  X:73,057,520...73,067,527
Ensembl chr  X:73,057,520...73,067,524 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:10712197 PMID:23656349 PMID:23913538 PMID:25741868 PMID:28492532 NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II ISO CTD Direct Evidence: marker/mechanism CTD PMID:16885183 NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428 		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 ClinVar PMID:21862674 PMID:23667181 PMID:28492532 NCBI chr 8:114,423,755...114,575,975
Ensembl chr 8:114,423,758...114,575,370 		JBrowse link
G Col18a1 collagen, type XVIII, alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Knobloch syndrome		 CTD
ClinVar		 PMID:1554013 PMID:9536098 PMID:10942434 PMID:12415512 PMID:14695535 More... NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382 		JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 ISO ClinVar Annotator: match by term: Knobloch syndrome ClinVar PMID:9677068 PMID:14695535 PMID:33693784 NCBI chr16:31,835,108...31,898,160
Ensembl chr16:31,835,108...31,898,160 		JBrowse link
G Slc19a1 solute carrier family 19 (folate transporter), member 1 ISO ClinVar Annotator: match by term: Knobloch syndrome ClinVar PMID:1554013 PMID:9536098 PMID:12415512 PMID:14695535 PMID:17546652 More... NCBI chr10:76,868,103...76,886,266
Ensembl chr10:76,868,075...76,896,836 		JBrowse link
Knobloch Syndrome Type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col18a1 collagen, type XVIII, alpha 1 ISO ClinVar Annotator: match by term: COL18A1-related condition | ClinVar Annotator: match by term: Knobloch syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:12415512 PMID:12766032 PMID:14695535 PMID:16199547 More... NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382 		JBrowse link
G Slc19a1 solute carrier family 19 (folate transporter), member 1 ISO ClinVar Annotator: match by term: COL18A1-related condition | ClinVar Annotator: match by term: Knobloch syndrome 1 ClinVar PMID:12415512 PMID:17546652 PMID:19160445 PMID:19390655 PMID:20799329 More... NCBI chr10:76,868,103...76,886,266
Ensembl chr10:76,868,075...76,896,836 		JBrowse link
Knobloch Syndrome Type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pak2 p21 (RAC1) activated kinase 2 ISO ClinVar Annotator: match by term: Knobloch syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:33693784 PMID:37808560 PMID:38712026 PMID:38894571 NCBI chr16:31,835,108...31,898,160
Ensembl chr16:31,835,108...31,898,160 		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: Lateral meningocele syndrome | ClinVar Annotator: match by term: Lehman syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3484396 PMID:8878478 PMID:9188658 PMID:9388399 PMID:10227618 More... NCBI chr17:32,339,794...32,385,869
Ensembl chr17:32,339,794...32,385,826 		JBrowse link
Meckel syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9d1 B9 protein domain 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32622957 More... NCBI chr11:61,395,970...61,403,757
Ensembl chr11:61,395,970...61,403,757 		JBrowse link
G B9d2 B9 protein domain 2 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:28492532 NCBI chr 7:25,380,205...25,385,987
Ensembl chr 7:25,380,205...25,385,983 		JBrowse link
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 Annotator: match by term: Gruber syndrome ClinVar PMID:3631907 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 5:43,819,715...43,898,317
Ensembl chr 5:43,819,688...43,898,314 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Meckel syndrome, type 1		 ClinVar PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		JBrowse link
G Cspp1 centrosome and spindle pole associated protein 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:24360803 PMID:25558065 PMID:25741868 NCBI chr 1:10,108,194...10,206,996
Ensembl chr 1:10,108,212...10,206,993 		JBrowse link
G Fto FTO alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar Annotator: match by term: Dysencephalia splachnocystica		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:92,039,995...92,395,061
Ensembl chr 8:92,040,153...92,395,067 		JBrowse link
G Hoxb6 homeobox B6 ISO ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar PMID:25741868 NCBI chr11:96,183,647...96,192,395
Ensembl chr11:96,183,302...96,192,395 		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-GRUBER SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Meckel syndrome, type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | 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)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 More... RGD:11535078, RGD:11535074, RGD:11535068, RGD:11535065, RGD:11063991 NCBI chr11:87,744,007...87,754,629
Ensembl chr11:87,744,041...87,754,629 		JBrowse link
G Nphp3 nephronophthisis 3 (adolescent) ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:103,879,743...103,921,010
Ensembl chr 9:103,879,743...103,921,017 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 PMID:34196655 NCBI chr10:100,408,136...100,425,252
Ensembl chr10:100,408,127...100,426,285 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1		 ClinVar PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 More... NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890 		JBrowse link
G Snord118 small nucleolar RNA, C/D box 118 ISO ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 ClinVar PMID:25741868 PMID:27571260 NCBI chr11:68,964,252...68,964,388
Ensembl chr11:68,964,253...68,964,387 		JBrowse link
G Tctn1 tectonic family member 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:21725307 PMID:22693042 PMID:25741868 PMID:27894351 PMID:28492532 NCBI chr 5:122,377,558...122,402,557
Ensembl chr 5:122,375,911...122,402,523 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 ClinVar PMID:25741868 PMID:27571260 NCBI chr11:68,961,635...68,964,119
Ensembl chr11:68,961,632...68,964,119 		JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:9536098 PMID:17576681 PMID:23349226 PMID:25558065 PMID:25741868 More... NCBI chr 8:112,638,639...112,660,445
Ensembl chr 8:112,638,643...112,660,513 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome		 ClinVar PMID:2929661 PMID:9375913 PMID:9536098 PMID:16199547 PMID:16541367 More... NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,363...12,090,020 		JBrowse link
Meckel Syndrome 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: KIF14-related condition | ClinVar Annotator: match by term: Meckel syndrome 12 OMIM
ClinVar		 PMID:16199547 PMID:23308235 PMID:24128419 PMID:25741868 PMID:28492532 More... NCBI chr 1:136,394,044...136,483,676
Ensembl chr 1:136,394,081...136,459,249 		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 OMIM
ClinVar		 PMID:25741868 PMID:26123494 PMID:26595381 NCBI chr11:68,961,635...68,964,119
Ensembl chr11:68,961,632...68,964,119 		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-GRUBER SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Meckel syndrome, type 2
CTD Direct Evidence: marker/mechanism
DNA:missense,frameshift,nonsense mutations:cds,splice junction:		 OMIM
ClinVar
CTD
RGD		 PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 More... RGD:11067331 NCBI chr19:10,516,690...10,533,663
Ensembl chr19:10,511,229...10,533,602 		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
IMP
IAGP		 ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3 | ClinVar Annotator: match by term: Meckel syndrome, type 3
CTD Direct Evidence: marker/mechanism
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		 OMIM
ClinVar
CTD
RGD		 PMID:2929661 PMID:9375913 PMID:9536098 PMID:16199547 PMID:16415887 More... RGD:329950577, 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 4:12,039,363...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 Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: CEP290-related disorder | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
DNA:frameshift mutation:exon:c.5489del (human)		 OMIM
ClinVar
CTD
RGD		 PMID:3442652 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 More... RGD:11063677, RGD:11070805 NCBI chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: CEP290-related disorder | ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chr10:100,408,136...100,425,252
Ensembl chr10:100,408,127...100,426,285 		JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:25741868 PMID:33791682 NCBI chr 9:37,119,519...37,134,524
Ensembl chr 9:37,119,519...37,135,996 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3442652 PMID:9536098 PMID:17558407 PMID:17558409 PMID:17576681 More... NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890 		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: CC2D2A-related disorder | ClinVar Annotator: match by term: Meckel syndrome, type 6
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3196484 PMID:3631907 PMID:8253763 PMID:9536098 PMID:16199547 More... NCBI chr 5:43,819,715...43,898,317
Ensembl chr 5:43,819,688...43,898,314 		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 chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 6 ClinVar PMID:16199547 PMID:21462283 PMID:21565611 PMID:23169490 PMID:25741868 More... NCBI chr 5:124,736,812...124,765,803
Ensembl chr 5:124,736,812...124,765,803 		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
IAGP		 ClinVar Annotator: match by term: Cranium bifidum occultum
CTD Direct Evidence: marker/mechanism
OMIM:168500 | OMIM:609566 | OMIM:609597		 ClinVar
CTD
MouseDO		 PMID:11137991 NCBI chr 2:93,472,779...93,511,686
Ensembl chr 2:93,472,729...93,511,684 		JBrowse link
G Msx2 msh homeobox 2 IAGP
ISO		 OMIM:168500 | OMIM:609566 | OMIM:609597
ClinVar Annotator: match by term: CATLIN MARKS | ClinVar Annotator: match by term: CRANIUM BIFIDUM, HEREDITARY | ClinVar Annotator: match by term: Cranium bifidum occultum | ClinVar Annotator: match by term: Enlarged parietal foramina | ClinVar Annotator: match by term: FORAMINA PARIETALIA PERMAGNA
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD		 PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 More... NCBI chr13:53,620,917...53,626,816
Ensembl chr13:53,620,920...53,627,110 		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 term: Parietal foramina 1 OMIM
ClinVar		 PMID:10742103 PMID:10767351 PMID:16222674 PMID:25741868 PMID:28492532 NCBI chr13:53,620,917...53,626,816
Ensembl chr13:53,620,920...53,627,110 		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
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:11106354 PMID:11137991 PMID:16319823 PMID:22829454 PMID:24764194 More... NCBI chr 2:93,472,779...93,511,686
Ensembl chr 2:93,472,729...93,511,684 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia		 OMIM
CTD
ClinVar		 PMID:14571277 NCBI chr13:53,620,917...53,626,816
Ensembl chr13:53,620,920...53,627,110 		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: MTOR-related condition | ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | ClinVar Annotator: match by term: Neurodevelopmental disorder, MTOR related | ClinVar Annotator: match by term: Overgrowth syndrome | ClinVar Annotator: match by term: Smith-Kingsmore syndrome OMIM
ClinVar		 PMID:17360675 PMID:21210909 PMID:22729223 PMID:23322780 PMID:23636326 More... NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725 		JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chr 8:71,220,820...71,229,356
Ensembl chr 8:71,220,820...71,229,357 		JBrowse link
spondylocostal dysostosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: DLL3-related disorder | ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive OMIM
ClinVar		 PMID:2805381 PMID:10742114 PMID:12746394 PMID:12791036 PMID:15200511 More... NCBI chr 7:27,992,980...28,001,210
Ensembl chr 7:27,992,978...28,001,663 		JBrowse link
G Mesp2 mesoderm posterior 2 ISO ClinVar Annotator: match by term: Spondylothoracic Dysostosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:79,460,475...79,463,179
Ensembl chr 7:79,460,475...79,463,187 		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 7:28,059,028...28,072,818
Ensembl chr 7:28,059,029...28,072,024 		JBrowse link
G Ripply2 ripply transcriptional repressor 2 ISO ClinVar Annotator: match by term: Spondylothoracic Dysostosis ClinVar PMID:25343988 PMID:28492532 NCBI chr 9:86,897,590...86,902,494
Ensembl chr 9:86,897,590...86,901,970 		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 hernia ClinVar PMID:19215055 PMID:25741868 PMID:28649782 PMID:31994175 NCBI chr 3:32,762,695...32,781,122
Ensembl chr 3:32,760,447...32,781,122 		JBrowse link
G Chrna7 cholinergic receptor, nicotinic, alpha polypeptide 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22473653 NCBI chr 7:62,748,440...62,862,274
Ensembl chr 7:62,748,440...62,862,317 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 IMP RGD PMID:21238647 RGD:11567270 NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 IMP RGD PMID:21238647 RGD:11567270 NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr19:17,409,678...17,815,076
Ensembl chr19:17,409,683...17,814,996 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Umbilical hernia ClinVar PMID:25741868 NCBI chr 4:147,994,210...148,021,233
Ensembl chr 4:147,994,210...148,021,224 		JBrowse link
Ventral Hernia 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 chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
G Col3a1 collagen, type III, alpha 1 treatment ISO RGD PMID:26578432 RGD:11041579 NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16263
    Pathological Conditions, Signs and Symptoms 12648
      Anatomical Pathological Conditions 2799
        enterocele 196
          Abdominal Hernia + 36
          Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 0
          Diaphragmatic Hernia + 125
          Encephalocele + 29
          Incisional Hernia 0
          Megarbane Syndrome 0
          Obturator Hernia 0
          Rectocele 0
          meningocele + 7
Path 2
Term Annotations click to browse term
  disease 16263
    disease of anatomical entity 15856
      Urogenital Diseases 5072
        Female Urogenital Diseases and Pregnancy Complications 2668
          Female Urogenital Diseases 2174
            female reproductive system disease 2171
              prolapse of female genital organ 196
                enterocele 196
                  Abdominal Hernia + 36
                  Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 0
                  Diaphragmatic Hernia + 125
                  Encephalocele + 29
                  Incisional Hernia 0
                  Megarbane Syndrome 0
                  Obturator Hernia 0
                  Rectocele 0
                  meningocele + 7
paths to the root