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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 chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890 		JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO RGD PMID:17872905 RGD:10401789 NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018 		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 ISO ClinVar Annotator: match by term: Hernia, anterior diaphragmatic OMIM
ClinVar		 PMID:25741868 PMID:37751738 NCBI chr  X:111,589,193...111,683,908
Ensembl chr  X:111,589,254...111,683,891 		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 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157 		JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923 		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 2:216,276,631...216,309,020
Ensembl chr 2:216,276,631...216,309,013 		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 2:216,344,563...216,375,193
Ensembl chr 2:216,343,822...216,375,242 		JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 5:146,192,126...146,195,580
Ensembl chr 5:146,192,126...146,195,521
Ensembl chr16:146,192,126...146,195,521 		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 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865 		JBrowse link
G Neurog2 neurogenin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:216,092,709...216,095,276
Ensembl chr 2:216,093,363...216,094,154 		JBrowse link
G Pitx2 paired-like homeodomain 2 ISO
ISS		 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 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293 		JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301 		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 2:216,257,926...216,267,635
Ensembl chr 2:216,234,774...216,267,841 		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 2:216,012,911...216,075,608
Ensembl chr 2:216,013,005...216,074,750 		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 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267 		JBrowse link
G Cdx2 caudal type homeo box 2 ISO ClinVar Annotator: match by term: Sirenomelia ClinVar PMID:25741868 NCBI chr12:7,726,798...7,733,142
Ensembl chr12:7,726,798...7,733,142 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Agenesis of sacrum ClinVar PMID:18564 PMID:9497245 PMID:10484775 PMID:11575529 PMID:12059893 More... NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Vangl1 VANGL planar cell polarity protein 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 2:189,586,681...189,637,609
Ensembl chr 2:189,589,229...189,637,619 		JBrowse link
G Zbtb16 zinc finger and BTB domain containing 16 IAGP RGD PMID:27727328 RGD:40924666 NCBI chr 8:48,989,376...49,177,011
Ensembl chr 8:48,994,566...49,177,011 		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 IEP protein:increased activity:lung (rat) RGD PMID:9498404 RGD:12859277 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 IMP RGD PMID:22113494 RGD:6903875 NCBI chr  X:112,119,876...112,124,060
Ensembl chr  X:112,120,228...112,124,057 		JBrowse link
G Atp7a ATPase copper transporting alpha IEP mRNA, protein:decreased expression:diaphragm (rat) RGD PMID:25319798 RGD:11341670 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Bmp4 bone morphogenetic protein 4 IEP mRNA:decreased expression:heart: RGD PMID:18280291 RGD:9068407 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Cbl Cbl proto-oncogene IEP mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: RGD PMID:23143077 RGD:11038813 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30418988 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20939759 PMID:21258935 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734 		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 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Eln elastin IEP mRNA,protein:increased expression:lung: RGD PMID:12194112 RGD:9585688 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Ep300 E1A binding protein p300 IEP mRNA:decreased expression:lung RGD PMID:24488106 RGD:9588310 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27880037 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:23806086 PMID:24088041 PMID:25736269 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		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 chr14:1,009,863...1,022,620
Ensembl chr14:1,009,786...1,021,928 		JBrowse link
G Foxc2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737 		JBrowse link
G Foxf1 forkhead box F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr19:49,153,949...49,157,741
Ensembl chr19:49,153,699...49,157,738 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm | ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726 		JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISO
ISS
IEP		 DNA:deletion, frame shift:cds, splice junction:
OMIM:142340 | OMIM:222400 | OMIM:610187
ClinVar Annotator: match by term: Agenesis of hemidiaphragm
CTD Direct Evidence: marker/mechanism
mRNA,protein:decreased expression:diaphragm:		 MouseDO
ClinVar
CTD
RGD		 PMID:23221805 PMID:23806086 PMID:24088041 PMID:25736269 PMID:25741868 More... RGD:11554181, RGD:11554195, RGD:11554181 NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543 		JBrowse link
G Frem2 FRAS1 related extracellular matrix 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 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785 		JBrowse link
G Gata4 GATA binding protein 4 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Agenesis of hemidiaphragm
OMIM:142340 | OMIM:222400 | OMIM:610187		 CTD
ClinVar
MouseDO		 PMID:18076106 PMID:20874241 PMID:23426975 PMID:24033266 PMID:25741868 More... NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636 		JBrowse link
G Gata6 GATA binding protein 6 IEP
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 chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712 		JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A IEP mRNA, protein:increased expression:lung RGD PMID:24888825 RGD:401901089 NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928 		JBrowse link
G Igf1 insulin-like growth factor 1 IEP mRNA:decreased expression:heart (rat) RGD PMID:11409163 RGD:12904929 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Igf2 insulin-like growth factor 2 treatment IEP RGD PMID:24352370 RGD:10402563 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 IEP RGD PMID:19844724 RGD:10402761 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083 		JBrowse link
G Igfbp5 insulin-like growth factor binding protein 5 IEP RGD PMID:19844724 RGD:10402761 NCBI chr 9:74,452,371...74,464,953
Ensembl chr 9:74,448,382...74,465,156 		JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21433279 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28189443 NCBI chr 9:23,830,185...24,395,984
Ensembl chr 9:23,833,087...24,394,704 		JBrowse link
G Kif7 kinesin family member 7 IEP
ISS		 mRNA,protein:decreased expression:diaphragmatic mesenchyme, pulmonary mesenchyme;
OMIM:142340 | OMIM:222400 | OMIM:610187		 MouseDO
RGD		 PMID:25921351 RGD:11553839 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576 		JBrowse link
G Lcn2 lipocalin 2 IEP
ISO		 mRNA:decreased expression:lung
protein:decreased expression:amniotic fluid		 RGD PMID:27592368 PMID:27592368 RGD:126790533, RGD:126790533 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095 		JBrowse link
G Lrp1 LDL receptor related protein 1 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 More... NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:1104268 PMID:14559814 PMID:17483355 PMID:21970370 PMID:22703879 More... NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Mn1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868 PMID:31834374 NCBI chr12:45,181,794...45,220,959
Ensembl chr12:45,183,085...45,221,651 		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 chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340 		JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258934 NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554 		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 chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157 		JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr18:54,136,887...54,199,545
Ensembl chr18:54,140,779...54,178,191 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:decreased expression:pulmonary artery (rat) RGD PMID:29216632 RGD:13504720 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 1:124,008,282...124,022,521
Ensembl chr 1:124,009,181...124,022,031 		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 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335 		JBrowse link
G Pgap3 post-GPI attachment to proteins phospholipase 3 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868 PMID:30345601 NCBI chr10:83,387,113...83,399,357
Ensembl chr10:83,387,113...83,398,628 		JBrowse link
G Pim1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr20:7,554,921...7,559,174
Ensembl chr20:7,554,921...7,559,174 		JBrowse link
G Pls3 plastin 3 ISS
ISO		 OMIM:142340 | OMIM:222400 | OMIM:610187
ClinVar Annotator: match by term: Congenital diaphragmatic hernia		 MouseDO
ClinVar		 PMID:25741868 PMID:37751738 NCBI chr  X:111,589,193...111,683,908
Ensembl chr  X:111,589,254...111,683,891 		JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746 		JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr 8:37,119,953...37,133,887
Ensembl chr 8:37,119,988...37,132,519 		JBrowse link
G Sftpa1 surfactant protein A1 treatment IEP RGD PMID:11051153 RGD:151667435 NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685 		JBrowse link
G Sftpb surfactant protein B treatment IEP RGD PMID:11051153 RGD:151667435 NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436 		JBrowse link
G Slc6a4 solute carrier family 6 member 4 IEP protein:increased expression:lung RGD PMID:24888825 RGD:401901089 NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384 		JBrowse link
G Slit2 slit guidance ligand 2 IEP mRNA:increased expression:lung RGD PMID:19944214 RGD:243048459 NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948 		JBrowse link
G Slit3 slit guidance ligand 3 ISS
IEP		 OMIM:142340 | OMIM:222400 | OMIM:610187
mRNA:increased expression:lung		 MouseDO
RGD		 PMID:19944214 RGD:243048459 NCBI chr10:19,571,798...20,156,634
Ensembl chr10:19,571,684...20,156,634 		JBrowse link
G Sod1 superoxide dismutase 1 IEP mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 IEP mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Sox7 SRY-box transcription factor 7 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr15:38,180,503...38,187,264
Ensembl chr15:38,180,503...38,187,264 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Tnf tumor necrosis factor IEP RGD PMID:10541330 RGD:12904053 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Vegfa vascular endothelial growth factor A IEP protein:decreased expression:lung: RGD PMID:15879288 RGD:7421593 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Wnt11 Wnt family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr 1:153,134,503...153,154,294
Ensembl chr 1:153,138,197...153,154,294 		JBrowse link
G Wt1 WT1 transcription factor ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:142340 | OMIM:222400 | OMIM:610187		 CTD
MouseDO		 PMID:21072664 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205 		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 chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292651 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946 		JBrowse link
G Agtr1b angiotensin II receptor, type 1b ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292651 NCBI chr 2:102,844,969...102,920,232
Ensembl chr 2:102,844,969...102,920,232 		JBrowse link
G Aqp5 aquaporin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17245593 PMID:17270560 NCBI chr 7:130,722,675...130,726,207
Ensembl chr 7:130,721,748...130,726,209 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: therapeutic CTD PMID:16473863 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Ednra endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049 		JBrowse link
G Ednrb endothelin receptor type B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10693666 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:10359170 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Fgf18 fibroblast growth factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303798 NCBI chr10:17,706,011...17,737,702
Ensembl chr10:17,706,174...17,736,818 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10646786 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Foxa2 forkhead box A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16863852 NCBI chr 3:135,470,123...135,474,326
Ensembl chr 3:135,470,131...135,474,326 		JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636 		JBrowse link
G Gata6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292552 PMID:16720372 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Hoxa5 homeo box A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chr 4:81,302,341...81,306,234
Ensembl chr 4:81,302,353...81,306,234 		JBrowse link
G Hoxb3 homeo box B3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chr10:81,258,739...81,314,134
Ensembl chr10:81,299,357...81,313,107 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12759764 PMID:17245593 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18500730 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr 2:194,704,555...194,718,387
Ensembl chr 2:194,704,639...194,718,400 		JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr 3:155,820,255...155,913,383
Ensembl chr 3:155,822,963...155,916,194 		JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr15:302,480...1,007,675
Ensembl chr15:302,214...1,001,198 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708 		JBrowse link
G Myod1 myogenic differentiation 1 IEP mRNA:decreased expression:diaphragm RGD PMID:21258934 RGD:9686080 NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554 		JBrowse link
G Nkx2-1 NK2 homeobox 1 IEP
ISO		 mRNA, protein:increased expression:lung
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:10830305 PMID:16863852 PMID:17245593 RGD:1600158 NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP
ISO		 mRNA, protein:decreased expression:lung
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:7576705 PMID:8863223 PMID:7576705 RGD:5132862 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11584395 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351 		JBrowse link
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr 1:124,008,282...124,022,521
Ensembl chr 1:124,009,181...124,022,031 		JBrowse link
G Pax3 paired box 3 IEP mRNA:decreased expression:heart (rat) RGD PMID:15616818 RGD:1580942 NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042 		JBrowse link
G Rxra retinoid X receptor alpha IEP mRNA:increased expression:lung RGD PMID:17270546 RGD:1643107 NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712 		JBrowse link
G Sftpb surfactant protein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10830305 PMID:16863852 NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436 		JBrowse link
G Sftpc surfactant protein C ISO CTD Direct Evidence: marker/mechanism CTD PMID:10751355 NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777 		JBrowse link
G Slit3 slit guidance ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr10:19,571,798...20,156,634
Ensembl chr10:19,571,684...20,156,634 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chr 8:58,548,899...58,568,861
Ensembl chr 8:58,549,736...58,568,860 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 IEP
ISO		 protein:increased expression:lung
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:10646786 PMID:19635314 RGD:4145129 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Thra thyroid hormone receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chr10:83,701,885...83,729,408
Ensembl chr10:83,700,755...83,729,936 		JBrowse link
G Thrb thyroid hormone receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10541330 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18958481 NCBI chr14:41,485,031...41,495,590
Ensembl chr14:41,485,031...41,495,590 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12759764 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958 		JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205 		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 chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205 		JBrowse link
Diaphragmatic Hernia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh1a2 aldehyde dehydrogenase 1 family, member A2 ISO ClinVar Annotator: match by term: Diaphragmatic hernia 4, with cardiovascular defects OMIM
ClinVar		 PMID:25741868 PMID:33565183 NCBI chr 8:71,877,850...71,957,107
Ensembl chr 8:71,877,850...71,957,107 		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 9:27,096,387...27,178,095
Ensembl chr 9:27,096,297...27,178,090 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO
ISS		 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
OMIM:222448
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8266995 PMID:9475100 PMID:9536098 PMID:12923867 PMID:16199547 More... NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708 		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 chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949 		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 chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Dnai3 dynein axonemal intermediate chain 3 ISO ClinVar Annotator: match by term: Occipital encephalocele ClinVar PMID:29285825 NCBI chr 2:234,947,910...235,006,173
Ensembl chr 2:234,929,677...235,006,173 		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 chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083 		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 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904 		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 chr 6:121,882,565...121,898,452
Ensembl chr 6:121,885,694...121,898,643
Ensembl chr 6:121,885,694...121,898,643 		JBrowse link
G Lage3 L antigen family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632 		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 chr15:24,137,149...24,144,568
Ensembl chr15:24,137,153...24,144,568 		JBrowse link
G Tp53rka Tp53 tumor protein p53 regulating kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 3:154,219,672...154,224,841
Ensembl chr 3:154,220,851...154,224,328 		JBrowse link
G Tprkb Tp53rk binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 4:118,342,910...118,357,908
Ensembl chr 4:118,342,945...118,357,901 		JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581 		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 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479 		JBrowse link
G Zfp592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443 		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 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230 		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 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479 		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 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443 		JBrowse link
Galloway-Mowat Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C5h1orf122 similar to human chromosome 1 open reading frame 122 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 ClinVar PMID:31481669 NCBI chr 5:137,109,093...137,110,130
Ensembl chr 5:137,108,633...137,110,929 		JBrowse link
G Yrdc yrdC N(6)-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 OMIM
ClinVar		 PMID:31481669 PMID:34545459 NCBI chr 5:137,110,244...137,115,127
Ensembl chr 5:137,110,279...137,115,120 		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 OMIM
ClinVar		 PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 NCBI chr  X:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632 		JBrowse link
Galloway-Mowat syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 OMIM
ClinVar		 PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chr15:24,137,149...24,144,568
Ensembl chr15:24,137,153...24,144,568 		JBrowse link
Galloway-Mowat syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53rka Tp53 tumor protein p53 regulating kinase A ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 PMID:36873107 NCBI chr 3:154,219,672...154,224,841
Ensembl chr 3:154,220,851...154,224,328 		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 4:118,342,910...118,357,908
Ensembl chr 4:118,342,945...118,357,901 		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 chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581 		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 chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370 		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 OMIM
ClinVar		 PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 NCBI chr19:51,891,606...51,941,243
Ensembl chr19:51,891,629...51,941,239 		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 chr 6:121,882,565...121,898,452
Ensembl chr 6:121,885,694...121,898,643
Ensembl chr 6:121,885,694...121,898,643 		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 chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor IEP protein:increased expression:liver, intestine (rat) RGD PMID:23381816 RGD:12904922 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase severity IEP protein:decreased expression:intestine: RGD PMID:15486901 RGD:12910745 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
G Lrp1 LDL receptor related protein 1 ISS OMIM:230750 MouseDO NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910 		JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:increased expression:intestine (rat) RGD PMID:21960425 RGD:5508749 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
hiatus hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Barx1 BARX homeobox 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:15,990,412...15,993,887
Ensembl chr17:15,990,412...15,993,887 		JBrowse link
G Fam120a family with sequence similarity 120 member A ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:15,684,233...15,774,964
Ensembl chr17:15,684,233...15,774,964 		JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071 		JBrowse link
G Fbp2 fructose-bisphosphatase 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:2,236,088...2,253,702
Ensembl chr17:2,236,336...2,253,698 		JBrowse link
G Mfsd14b major facilitator superfamily domain containing 14B ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:77,895...130,837
Ensembl chr17:77,840...130,839 		JBrowse link
G Mirlet7a1 microRNA let-7a-1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:16,113,766...16,113,859
Ensembl chr17:16,113,768...16,113,867 		JBrowse link
G Mirlet7d microRNA let-7d ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:16,115,893...16,115,990
Ensembl chr17:16,115,893...16,115,990 		JBrowse link
G Mirlet7f-1 microRNA let7f-1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:16,114,130...16,114,226
Ensembl chr17:16,114,130...16,114,226 		JBrowse link
G Phf2 PHD finger protein 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:15,783,221...15,851,209
Ensembl chr17:15,781,864...15,851,208 		JBrowse link
G Ptpdc1 protein tyrosine phosphatase domain containing 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:16,028,964...16,076,512
Ensembl chr17:16,049,382...16,076,512 		JBrowse link
G Zfp169 zinc finger protein 169 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:16,139,204...16,167,242
Ensembl chr17:16,139,253...16,169,914 		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 2:115,492,374...115,508,401
Ensembl chr 2:115,492,285...115,508,401 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:25741868 NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588 		JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:25741868 NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521 		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 chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16885183 NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		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 chr19:41,686,951...41,840,035
Ensembl chr19:41,688,617...41,839,781 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain 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 chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593 		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 chr11:68,707,940...68,768,816
Ensembl chr11:68,707,969...68,768,816 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Knobloch syndrome ClinVar PMID:1554013 PMID:9536098 PMID:12415512 PMID:14695535 PMID:17546652 More... NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972 		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 chain ISO ClinVar Annotator: match by term: COL18A1-related condition | ClinVar Annotator: match by term: Knobloch syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:12415512 PMID:14695535 PMID:16199547 PMID:17576681 More... NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: COL18A1-related condition | ClinVar Annotator: match by term: Knobloch syndrome 1 ClinVar PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 More... NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972 		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 chr11:68,707,940...68,768,816
Ensembl chr11:68,707,969...68,768,816 		JBrowse link
lateral meningocele syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch receptor 3 ISO 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 chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025 		JBrowse link
Meckel syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32622957 More... NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008 		JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:28492532 NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356 		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 chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949 		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 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 chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392 		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 5:9,077,161...9,192,402
Ensembl chr 5:9,077,161...9,193,377 		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 chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083 		JBrowse link
G Hoxb6 homeo box B6 ISO ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar PMID:25741868 NCBI chr10:81,258,726...81,267,458
Ensembl chr10:81,265,056...81,267,449 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | 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 chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383 		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 chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600 		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 chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083 		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 chr10:53,774,811...53,774,946
Ensembl chr10:53,774,811...53,774,946 		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 chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 ClinVar PMID:25741868 PMID:27571260 NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676 		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 chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269 		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 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		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: Meckel syndrome 12 OMIM
ClinVar		 PMID:24128419 PMID:25741868 PMID:28492532 NCBI chr13:47,926,975...47,990,598
Ensembl chr13:47,927,044...47,989,164 		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 chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676 		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 chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754 		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-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 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:16415887 RGD:11535082
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:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... RGD:11063677, RGD:11070805 NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392 		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 chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600 		JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:25741868 PMID:33791682 NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927 		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:9536098 PMID:17558407 PMID:17558409 PMID:17576681 PMID:17960139 More... NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083 		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:3631907 PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Meckel syndrome, type 6 ClinVar PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 More... NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392 		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 chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069 		JBrowse link
parietal foramina term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO
ISS		 ClinVar Annotator: match by term: Cranium bifidum occultum
OMIM:168500 | OMIM:609566 | OMIM:609597
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD		 PMID:11137991 NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260 		JBrowse link
G Msx2 msh homeobox 2 ISO
ISS		 CTD Direct Evidence: marker/mechanism
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
OMIM:168500 | OMIM:609566 | OMIM:609597		 CTD
ClinVar
MouseDO		 PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 More... NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879 		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 chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879 		JBrowse link
Parietal Foramina 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO 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 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260 		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 chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879 		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:21210909 PMID:22729223 PMID:23322780 PMID:23636326 PMID:24625776 More... NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065 		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 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750 		JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Spondylothoracic Dysostosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:133,756,601...133,759,207
Ensembl chr 1:133,756,601...133,759,198 		JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:83,651,902...83,665,063
Ensembl chr 1:83,647,748...83,665,063 		JBrowse link
G Ripply2 ripply transcriptional repressor 2 ISO ClinVar Annotator: match by term: Spondylothoracic Dysostosis ClinVar PMID:25343988 PMID:28492532 NCBI chr 8:87,974,444...87,979,002
Ensembl chr 8:87,974,776...87,978,969 		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 2:115,492,374...115,508,401
Ensembl chr 2:115,492,285...115,508,401 		JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:22473653 NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO RGD PMID:21238647 RGD:11567270 NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO RGD PMID:21238647 RGD:11567270 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Umbilical hernia ClinVar PMID:25741868 NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620 		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 chain treatment IDA RGD PMID:26578432 RGD:11041579 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col3a1 collagen type III alpha 1 chain treatment IDA RGD PMID:26578432 RGD:11041579 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    Pathological Conditions, Signs and Symptoms 13607
      Anatomical Pathological Conditions 2750
        enterocele 191
          Abdominal Hernia + 32
          Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 0
          Diaphragmatic Hernia + 123
          Encephalocele + 31
          Incisional Hernia 0
          Megarbane Syndrome 0
          Obturator Hernia 0
          Rectocele 0
          meningocele + 7
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      Urogenital Diseases 5375
        Female Urogenital Diseases and Pregnancy Complications 2652
          Female Urogenital Diseases 2178
            female reproductive system disease 2175
              prolapse of female genital organ 191
                enterocele 191
                  Abdominal Hernia + 32
                  Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 0
                  Diaphragmatic Hernia + 123
                  Encephalocele + 31
                  Incisional Hernia 0
                  Megarbane Syndrome 0
                  Obturator Hernia 0
                  Rectocele 0
                  meningocele + 7
paths to the root