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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:prolapse of female genital organ
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Accession:DOID:1284 term browser browse the term
Definition:A female reproductive system disease that is characterized by the descent of one or more of the pelvic structures (bladder, uterus, vagina) from the normal anatomic location toward or through the vaginal opening. (DO)
Synonyms:xref: ICD9CM:618.8
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 | ClinVar Annotator: match by term: PLS3-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:37751738 NCBI chr  X:116,401,247...116,495,898
Ensembl chr  X:116,401,293...116,495,893 		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 2:218,801,425...218,924,013
Ensembl chr 2:218,780,189...218,921,646 		JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:218,052,555...218,537,259 		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 2:218,951,104...218,983,495
Ensembl chr 2:218,927,373...218,983,752 		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 2:219,019,025...219,049,648
Ensembl chr 2:219,018,241...219,049,770 		JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 5:151,475,907...151,479,361
Ensembl chr 5:151,475,909...151,479,397 		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 2:218,672,145...218,687,332
Ensembl chr 2:218,672,208...218,687,308 		JBrowse link
G Neurog2 neurogenin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:218,767,205...218,769,772
Ensembl chr 2:218,765,949...218,769,784 		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 2:220,391,417...220,411,588
Ensembl chr 2:220,391,888...220,411,591 		JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:96,405,492...96,567,647
Ensembl chr 4:96,405,493...96,567,647 		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 2:218,927,724...218,942,111
Ensembl chr 2:218,909,915...218,956,224 		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 2:218,687,413...218,750,104
Ensembl chr 2:218,687,505...218,750,104 		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 2:192,214,556...192,270,821
Ensembl chr 2:192,214,537...192,270,820 		JBrowse link
G Cdx2 caudal type homeo box 2 ISO ClinVar Annotator: match by term: Sirenomelia ClinVar PMID:25741868 NCBI chr12:12,762,769...12,769,246
Ensembl chr12:12,762,904...12,769,246 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:224,263,823...224,694,350
Ensembl chr 1:224,264,678...224,694,347 		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 1:93,420,078...93,551,305
Ensembl chr 1:93,420,078...93,551,305 		JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 susceptibility 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 2:192,277,762...192,326,151
Ensembl chr 2:192,280,422...192,326,186 		JBrowse link
G Zbtb16 zinc finger and BTB domain containing 16 IAGP RGD PMID:27727328 RGD:40924666 NCBI chr 8:57,885,886...58,073,507
Ensembl chr 8:57,891,081...58,073,507 		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 chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 IMP RGD PMID:22113494 RGD:6903875 NCBI chr  X:116,914,320...116,918,504
Ensembl chr  X:116,913,656...116,918,745 		JBrowse link
G Atp7a ATPase copper transporting alpha IEP mRNA, protein:decreased expression:diaphragm (rat) RGD PMID:25319798 RGD:11341670 NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:75,159,782...75,267,093 		JBrowse link
G Bmp4 bone morphogenetic protein 4 IEP mRNA:decreased expression:heart: RGD PMID:18280291 RGD:9068407 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:22,098,470...22,105,172 		JBrowse link
G Cbl Cbl proto-oncogene IEP mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: RGD PMID:23143077 RGD:11038813 NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:53,384,656...53,468,067 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30418988 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20939759 PMID:21258935 NCBI chr 1:22,621,498...22,624,614
Ensembl chr 1:22,621,501...22,624,976 		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 9:84,299,626...84,307,344
Ensembl chr 9:84,298,447...84,307,347 		JBrowse link
G Eln elastin IEP mRNA,protein:increased expression:lung: RGD PMID:12194112 RGD:9585688 NCBI chr12:27,604,983...27,648,413
Ensembl chr12:27,604,680...27,648,413 		JBrowse link
G Ep300 E1A binding protein p300 IEP mRNA:decreased expression:lung RGD PMID:24488106 RGD:9588310 NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:114,946,982...115,058,574 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27880037 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:24,841,285...24,844,725 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:23806086 PMID:24088041 PMID:25736269 NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		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 chr14:1,154,275...1,166,334
Ensembl chr14:1,154,275...1,166,752 		JBrowse link
G Foxc2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr19:66,094,718...66,097,420
Ensembl chr19:66,094,700...66,153,977 		JBrowse link
G Foxf1 forkhead box F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr19:66,062,635...66,066,427
Ensembl chr19:66,062,369...66,066,428 		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 chr14:13,095,370...13,506,895
Ensembl chr14:13,095,370...13,504,664 		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 5:102,367,201...102,515,464
Ensembl chr 5:102,367,201...102,515,404 		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 2:139,753,055...139,891,046
Ensembl chr 2:139,753,055...139,891,046 		JBrowse link
G Gata4 GATA binding protein 4 ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:142340 | OMIM:222400 | OMIM:610187 		CTD
MouseDO		 PMID:23426975 NCBI chr15:41,635,572...41,707,252
Ensembl chr15:41,635,572...41,681,609 		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 chr18:2,460,909...2,492,322
Ensembl chr18:2,458,253...2,492,322 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr17:54,134,064...54,405,198
Ensembl chr17:54,134,064...54,405,198 		JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A IEP mRNA, protein:increased expression:lung RGD PMID:24888825 RGD:401901089 NCBI chr15:56,360,647...56,428,703
Ensembl chr15:56,359,596...56,431,619 		JBrowse link
G Igf1 insulin-like growth factor 1 IEP mRNA:decreased expression:heart (rat) RGD PMID:11409163 RGD:12904929 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:130,959,997...131,248,664 		JBrowse link
G Igf2 insulin-like growth factor 2 treatment IEP RGD PMID:24352370 RGD:10402563 NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:207,243,873...207,260,667 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr 1:50,526,878...50,615,265
Ensembl chr 1:50,526,878...50,615,265 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 IEP RGD PMID:19844724 RGD:10402761 NCBI chr14:86,270,208...86,277,944
Ensembl chr14:86,270,208...86,277,944 		JBrowse link
G Igfbp5 insulin-like growth factor binding protein 5 IEP RGD PMID:19844724 RGD:10402761 NCBI chr 9:81,901,605...81,914,187
Ensembl chr 9:81,897,616...81,914,390 		JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21433279 NCBI chr12:5,991,135...6,129,275
Ensembl chr12:5,981,835...6,128,803 		JBrowse link
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28189443 NCBI chr 9:31,326,595...31,892,399
Ensembl chr 9:31,329,497...31,891,304 		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 1:143,041,206...143,067,873
Ensembl chr 1:143,049,036...143,067,890 		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 3:36,078,432...36,081,851
Ensembl chr 3:36,078,436...36,081,842 		JBrowse link
G Lrp1 LDL receptor related protein 1 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 7:65,265,639...65,346,196
Ensembl chr 7:65,265,639...65,346,196 		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 chr11:96,991,956...97,008,127
Ensembl chr11:96,991,590...97,007,851 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:14559814 PMID:21970370 PMID:22703879 PMID:23806086 PMID:24088041 More... NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:46,756,506...46,870,821 		JBrowse link
G Mn1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868 PMID:31834374 NCBI chr12:50,841,632...50,880,795
Ensembl chr12:50,841,632...50,880,795 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:12707239 PMID:17125710 PMID:18076673 PMID:20394946 PMID:20800588 More... NCBI chr15:32,416,525...32,439,851
Ensembl chr15:32,416,527...32,438,194 		JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258934 NCBI chr 1:106,021,161...106,023,871
Ensembl chr 1:106,021,161...106,023,871 		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 1:216,279,057...216,311,155
Ensembl chr 1:216,279,057...216,311,178 		JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr18:56,407,308...56,470,007
Ensembl chr18:56,411,200...56,448,612 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:decreased expression:pulmonary artery (rat) RGD PMID:29216632 RGD:13504720 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664 		JBrowse link
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 1:133,419,161...133,434,290
Ensembl chr 1:133,420,227...133,431,975 		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 9:87,015,960...87,112,531
Ensembl chr 9:87,016,999...87,124,141 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,360,028...33,408,516 		JBrowse link
G Pim1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr20:7,556,496...7,560,747
Ensembl chr20:7,556,113...7,561,764 		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:116,401,247...116,495,898
Ensembl chr  X:116,401,293...116,495,893 		JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:117,870,270...117,904,302 		JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr 8:45,308,739...45,322,522
Ensembl chr 8:45,308,739...45,322,531 		JBrowse link
G Sftpa1 surfactant protein A1 treatment IEP RGD PMID:11051153 RGD:151667435 NCBI chr16:17,042,264...17,045,770
Ensembl chr16:17,042,255...17,045,769 		JBrowse link
G Sftpb surfactant protein B treatment IEP RGD PMID:11051153 RGD:151667435 NCBI chr 4:105,917,495...105,926,631
Ensembl chr 4:105,917,578...105,927,646 		JBrowse link
G Slc6a4 solute carrier family 6 member 4 IEP protein:increased expression:lung RGD PMID:24888825 RGD:401901089 NCBI chr10:62,322,688...62,357,060
Ensembl chr10:62,324,254...62,357,056 		JBrowse link
G Slit2 slit guidance ligand 2 IEP mRNA:increased expression:lung RGD PMID:19944214 RGD:243048459 NCBI chr14:66,829,661...67,168,517
Ensembl chr14:66,829,661...67,167,146 		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 chr10:20,075,929...20,660,704
Ensembl chr10:20,076,021...20,660,704 		JBrowse link
G Sod1 superoxide dismutase 1 IEP mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399 		JBrowse link
G Sod2 superoxide dismutase 2 IEP mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168 		JBrowse link
G Sox7 SRY-box transcription factor 7 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr15:42,356,405...42,363,166
Ensembl chr15:42,356,289...42,363,164 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr10:86,311,528...86,363,513
Ensembl chr10:86,311,535...86,363,359 		JBrowse link
G Tnf tumor necrosis factor IEP RGD PMID:10541330 RGD:12904053 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Vegfa vascular endothelial growth factor A IEP protein:decreased expression:lung: RGD PMID:15879288 RGD:7421593 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194 		JBrowse link
G Wnt11 Wnt family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr 1:162,545,660...162,565,456
Ensembl chr 1:162,545,680...162,564,660 		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 3:112,019,721...112,068,454
Ensembl chr 3:112,021,641...112,068,444 		JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 7:73,563,732...74,001,041
Ensembl chr 7:73,563,732...74,001,041 		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 chr19:69,426,540...69,447,017
Ensembl chr19:69,421,638...69,446,944 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292651 NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,381,467...34,435,660 		JBrowse link
G Agtr1b angiotensin II receptor, type 1b ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292651 NCBI chr 2:104,774,005...104,849,262
Ensembl chr 2:104,773,930...104,849,310 		JBrowse link
G Aqp5 aquaporin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17245593 PMID:17270560 NCBI chr 7:132,601,528...132,605,060
Ensembl chr 7:132,601,059...132,605,062 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:22,098,470...22,105,172 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: therapeutic CTD PMID:16473863 NCBI chr 4:47,422,084...47,694,646
Ensembl chr 4:47,526,735...47,694,643 		JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,660,799...22,666,687 		JBrowse link
G Ednra endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chr19:47,137,360...47,207,961
Ensembl chr19:47,137,771...47,201,284 		JBrowse link
G Ednrb endothelin receptor type B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10693666 NCBI chr15:87,055,490...87,086,765
Ensembl chr15:87,057,691...87,086,765 		JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:10359170 NCBI chr12:27,604,983...27,648,413
Ensembl chr12:27,604,680...27,648,413 		JBrowse link
G Fgf18 fibroblast growth factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303798 NCBI chr10:18,210,240...18,241,929
Ensembl chr10:18,210,512...18,240,933 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10646786 NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:122,164,454...122,224,493 		JBrowse link
G Foxa2 forkhead box A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16863852 NCBI chr 3:155,923,305...155,927,508
Ensembl chr 3:155,923,307...155,928,757 		JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr15:41,635,572...41,707,252
Ensembl chr15:41,635,572...41,681,609 		JBrowse link
G Gata6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr18:2,460,909...2,492,322
Ensembl chr18:2,458,253...2,492,322 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292552 PMID:16720372 NCBI chr20:36,302,490...36,315,010
Ensembl chr20:36,302,352...36,319,689 		JBrowse link
G Hoxa5 homeo box A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chr 4:82,632,958...82,636,851
Ensembl chr 4:82,632,306...82,639,038 		JBrowse link
G Hoxb3 homeo box B3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chr10:81,786,001...81,810,655
Ensembl chr10:81,795,882...81,809,628 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12759764 PMID:17245593 NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:27,829,161...27,841,617 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:207,243,873...207,260,667 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18500730 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr 2:197,392,746...197,406,606
Ensembl chr 2:197,392,698...197,407,519 		JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr 3:176,239,285...176,332,408
Ensembl chr 3:176,242,589...176,332,408 		JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr15:351,065...1,057,117
Ensembl chr15:351,659...1,057,117 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chr 3:74,597,148...74,754,535
Ensembl chr 3:74,597,148...74,754,535 		JBrowse link
G Myod1 myogenic differentiation 1 IEP mRNA:decreased expression:diaphragm RGD PMID:21258934 RGD:9686080 NCBI chr 1:106,021,161...106,023,871
Ensembl chr 1:106,021,161...106,023,871 		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 6:79,731,677...79,735,952
Ensembl chr 6:79,731,677...79,736,441 		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 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664 		JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11584395 NCBI chr 5:163,712,184...163,713,493
Ensembl chr 5:163,712,184...163,713,493 		JBrowse link
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr 1:133,419,161...133,434,290
Ensembl chr 1:133,420,227...133,431,975 		JBrowse link
G Pax3 paired box 3 IEP mRNA:decreased expression:heart (rat) RGD PMID:15616818 RGD:1580942 NCBI chr 9:87,015,960...87,112,531
Ensembl chr 9:87,016,999...87,124,141 		JBrowse link
G Rxra retinoid X receptor alpha IEP mRNA:increased expression:lung RGD PMID:17270546 RGD:1643107 NCBI chr 3:31,387,892...31,474,415
Ensembl chr 3:31,388,223...31,474,417 		JBrowse link
G Sftpb surfactant protein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10830305 PMID:16863852 NCBI chr 4:105,917,495...105,926,631
Ensembl chr 4:105,917,578...105,927,646 		JBrowse link
G Sftpc surfactant protein C ISO CTD Direct Evidence: marker/mechanism CTD PMID:10751355 NCBI chr15:52,006,274...52,009,324
Ensembl chr15:52,006,283...52,009,475 		JBrowse link
G Slit3 slit guidance ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr10:20,075,929...20,660,704
Ensembl chr10:20,076,021...20,660,704 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chr 8:67,444,757...67,464,719
Ensembl chr 8:67,444,742...67,464,720 		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 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899 		JBrowse link
G Thra thyroid hormone receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chr10:84,198,141...84,225,659
Ensembl chr10:84,197,011...84,225,657 		JBrowse link
G Thrb thyroid hormone receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chr15:10,115,954...10,465,231
Ensembl chr15:10,115,954...10,313,680 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10541330 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18958481 NCBI chr14:41,838,859...41,849,743
Ensembl chr14:41,838,861...41,849,417 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12759764 NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:206,723,044...206,742,801 		JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:112,021,641...112,068,444 		JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr 7:73,563,732...74,001,041
Ensembl chr 7:73,563,732...74,001,041 		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 7:73,563,732...74,001,041
Ensembl chr 7:73,563,732...74,001,041 		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: ALDH1A2-related condition | ClinVar Annotator: match by term: Diaphragmatic hernia 4, with cardiovascular defects OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33565183 NCBI chr 8:80,758,641...80,837,891
Ensembl chr 8:80,758,142...80,837,883 		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 9:34,592,723...34,674,425
Ensembl chr 9:34,577,616...34,674,428 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO
ISS 		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
OMIM:222448
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:8266995 PMID:9475100 PMID:9536098 PMID:12923867 PMID:16199547 More... NCBI chr 3:74,597,148...74,754,535
Ensembl chr 3:74,597,148...74,754,535 		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 chr14:71,563,835...71,648,352
Ensembl chr14:71,563,835...71,648,331 		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 7:37,196,765...37,285,955
Ensembl chr 7:37,196,783...37,285,955 		JBrowse link
G Dnai3 dynein axonemal intermediate chain 3 ISO ClinVar Annotator: match by term: Occipital encephalocele ClinVar PMID:29285825 NCBI chr 2:237,608,202...237,666,465
Ensembl chr 2:237,604,068...237,666,465 		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 chr15:82,258,243...82,427,546
Ensembl chr15:82,258,468...82,427,548 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr19:31,865,050...31,957,930
Ensembl chr19:31,865,231...31,957,930 		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 5:137,182,648...137,229,349
Ensembl chr 5:137,182,648...137,229,419 		JBrowse link
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 1:249,325,082...249,357,383
Ensembl chr 1:249,325,082...249,357,383 		JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO RGD PMID:17872905 RGD:10401789 NCBI chr14:106,811,769...106,890,961
Ensembl chr14:106,802,304...106,892,808 		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 6:127,647,389...127,663,276 JBrowse link
G Lage3 L antigen family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:157,289,497...157,290,920 JBrowse link
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:28106320 PMID:28492532 NCBI chr19:68,789,065...68,838,692
Ensembl chr19:68,789,065...68,838,692 		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:28492532 PMID:28805828 More... NCBI chr15:26,610,694...26,618,113
Ensembl chr15:26,610,698...26,618,113 		JBrowse link
G Tp53rka Tp53 tumor protein p53 regulating kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 3:174,638,962...174,645,198
Ensembl chr 3:174,638,962...174,643,347 		JBrowse link
G Tprkb Tp53rk binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 4:119,900,374...119,915,374
Ensembl chr 4:119,900,484...119,915,382 		JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr20:9,588,532...9,604,718
Ensembl chr20:9,588,532...9,605,007 		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 1:144,269,561...144,277,707
Ensembl chr 1:144,269,562...144,277,840 		JBrowse link
G Zfp592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr 1:144,355,227...144,411,686
Ensembl chr 1:144,361,654...144,411,684 		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 3:36,332,190...36,370,324
Ensembl chr 3:36,326,202...36,370,933 		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 1:144,269,561...144,277,707
Ensembl chr 1:144,269,562...144,277,840 		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 1:144,355,227...144,411,686
Ensembl chr 1:144,361,654...144,411,684 		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 Annotator: match by term: YRDC-related condition ClinVar PMID:28492532 PMID:31481669 NCBI chr 5:142,393,691...142,394,804 JBrowse link
G Yrdc yrdC N(6)-threonylcarbamoyltransferase domain containing 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 5:142,394,833...142,399,798
Ensembl chr 5:142,394,938...142,399,795 		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:157,289,497...157,290,920 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 | ClinVar Annotator: match by term: OSGEP-related condition OMIM
ClinVar		 PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chr15:26,610,694...26,618,113
Ensembl chr15:26,610,698...26,618,113 		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 | ClinVar Annotator: match by term: TP53RK-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 PMID:36873107 NCBI chr 3:174,638,962...174,645,198
Ensembl chr 3:174,638,962...174,643,347 		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 4:119,900,374...119,915,374
Ensembl chr 4:119,900,484...119,915,382 		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 chr20:9,588,532...9,604,718
Ensembl chr20:9,588,532...9,605,007 		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 7:55,239,610...55,285,050
Ensembl chr 7:55,239,613...55,285,234 		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 chr19:68,789,065...68,838,692
Ensembl chr19:68,789,065...68,838,692 		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 6:127,647,389...127,663,276 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 chr14:80,333,242...80,401,641
Ensembl chr14:80,333,244...80,391,732 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor IEP protein:increased expression:liver, intestine (rat) RGD PMID:23381816 RGD:12904922 NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:130,959,997...131,248,664 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase severity IEP protein:decreased expression:intestine: RGD PMID:15486901 RGD:12910745 NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,903,033...32,978,812 		JBrowse link
G Lrp1 LDL receptor related protein 1 ISS OMIM:230750 MouseDO NCBI chr 7:65,265,639...65,346,196
Ensembl chr 7:65,265,639...65,346,196 		JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:increased expression:intestine (rat) RGD PMID:21960425 RGD:5508749 NCBI chr10:64,313,335...64,349,221
Ensembl chr10:64,313,335...64,401,880 		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 chr17:16,196,764...16,200,239
Ensembl chr17:16,196,764...16,200,239 		JBrowse link
G Fam120a family with sequence similarity 120 member A ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:15,890,151...15,981,337
Ensembl chr17:15,890,605...15,981,332 		JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:2,212,941...2,235,749
Ensembl chr17:2,213,492...2,235,746 		JBrowse link
G Fbp2 fructose-bisphosphatase 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:2,241,767...2,259,371
Ensembl chr17:2,241,975...2,259,366 		JBrowse link
G Mfsd14b major facilitator superfamily domain containing 14B ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:83,686...136,623
Ensembl chr17:83,762...136,514 		JBrowse link
G Mirlet7a1 microRNA let-7a-1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:16,320,133...16,320,226
Ensembl chr17:16,320,135...16,320,234 		JBrowse link
G Mirlet7d microRNA let-7d ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:16,322,260...16,322,357
Ensembl chr17:16,322,260...16,322,357 		JBrowse link
G Mirlet7f-1 microRNA let7f-1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:16,320,497...16,320,593 JBrowse link
G Phf2 PHD finger protein 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:15,989,594...16,057,583
Ensembl chr17:15,981,604...16,057,583 		JBrowse link
G Ptpdc1 protein tyrosine phosphatase domain containing 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:16,235,311...16,284,160
Ensembl chr17:16,235,263...16,284,158 		JBrowse link
G Zfp169 zinc finger protein 169 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr17:16,345,569...16,379,079
Ensembl chr17:16,345,647...16,373,928 		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 2:117,413,206...117,436,758
Ensembl chr 2:117,418,601...117,436,754 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:25741868 NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:31,606,486...31,753,020 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:25741868 NCBI chr  X:156,919,927...156,929,825
Ensembl chr  X:156,920,081...156,929,825 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16885183 NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:124,674,986...124,761,469 		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 chr19:58,596,095...58,749,239
Ensembl chr19:58,597,761...58,749,138 		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 chr20:11,473,645...11,582,111
Ensembl chr20:11,473,645...11,582,112 		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 chr11:82,212,896...82,273,803
Ensembl chr11:82,212,951...82,273,803 		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 chr20:11,583,928...11,601,959
Ensembl chr20:11,583,929...11,601,488 		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:12766032 PMID:14695535 PMID:16199547 More... NCBI chr20:11,473,645...11,582,111
Ensembl chr20:11,473,645...11,582,112 		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:9536098 PMID:12415512 PMID:14695535 PMID:17546652 PMID:17576681 More... NCBI chr20:11,583,928...11,601,959
Ensembl chr20:11,583,929...11,601,488 		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 chr11:82,212,896...82,273,803
Ensembl chr11:82,212,951...82,273,803 		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 7:11,783,550...11,834,585
Ensembl chr 7:11,784,272...11,834,778 		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 chr10:46,685,410...46,698,580
Ensembl chr10:46,686,133...46,695,428 		JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:90,315,472...90,323,143
Ensembl chr 1:90,317,200...90,323,175 		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 chr14:71,563,835...71,648,352
Ensembl chr14:71,563,835...71,648,331 		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 chr 7:37,196,765...37,285,955
Ensembl chr 7:37,196,783...37,285,955 		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 5:13,860,072...13,975,299
Ensembl chr 5:13,860,072...13,975,321 		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 chr19:31,456,749...31,865,011
Ensembl chr19:31,522,293...31,864,957 		JBrowse link
G Hoxb6 homeo box B6 ISO ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar PMID:25741868 NCBI chr10:81,755,263...81,763,999 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
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 chr10:73,152,599...73,167,451
Ensembl chr10:73,153,186...73,163,886 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:113,500,708...113,541,179
Ensembl chr 8:113,500,509...113,541,179 		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 7:37,284,545...37,295,858
Ensembl chr 7:37,284,620...37,298,044 		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 chr19:31,865,050...31,957,930
Ensembl chr19:31,865,231...31,957,930 		JBrowse link
G Snord118 small nucleolar RNA, C/D box 118 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 ClinVar PMID:25741868 PMID:27571260 PMID:28492532 PMID:29984895 PMID:29984898 More... NCBI chr10:54,273,655...54,273,790
Ensembl chr10:54,273,655...54,273,790 		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 chr12:39,970,554...40,003,727
Ensembl chr12:39,970,621...40,003,725 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 ClinVar PMID:25741868 PMID:27571260 PMID:28492532 PMID:29984895 PMID:29984898 More... NCBI chr10:54,268,218...54,273,520
Ensembl chr10:54,271,196...54,278,586 		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 chr19:56,792,329...56,813,515
Ensembl chr19:56,792,329...56,820,094 		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 5:30,333,793...30,386,702
Ensembl chr 5:30,333,793...30,386,666 		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 chr13:50,478,646...50,542,256
Ensembl chr13:50,478,721...50,542,248 		JBrowse link
Meckel syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snord118 small nucleolar RNA, C/D box 118 ISO ClinVar Annotator: match by term: Meckel syndrome 13 ClinVar PMID:25741868 PMID:27571260 PMID:28492532 PMID:29970281 PMID:29984898 More... NCBI chr10:54,273,655...54,273,790
Ensembl chr10:54,273,655...54,273,790 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Meckel syndrome 13 OMIM
ClinVar		 PMID:25741868 PMID:26123494 PMID:26595381 PMID:27571260 PMID:28492532 More... NCBI chr10:54,268,218...54,273,520
Ensembl chr10:54,271,196...54,278,586 		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 1:216,621,365...216,627,497
Ensembl chr 1:216,621,376...216,626,519 		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 5:30,333,793...30,386,702
Ensembl chr 5:30,333,793...30,386,666 		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:3442652 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 More... RGD:11063677, RGD:11070805 NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:37,196,783...37,285,955 		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 7:37,284,545...37,295,858
Ensembl chr 7:37,284,620...37,298,044 		JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:25741868 PMID:33791682 NCBI chr 8:45,113,368...45,128,739
Ensembl chr 8:45,113,427...45,129,152 		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 chr19:31,865,050...31,957,930
Ensembl chr19:31,865,231...31,957,930 		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 chr14:71,563,835...71,648,352
Ensembl chr14:71,563,835...71,648,331 		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 7:37,196,765...37,285,955
Ensembl chr 7:37,196,783...37,285,955 		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 chr12:37,643,711...37,668,035
Ensembl chr12:37,643,715...37,668,035 		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 3:100,067,052...100,103,624
Ensembl chr 3:100,067,052...100,103,624 		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 chr17:11,102,284...11,107,949
Ensembl chr17:11,102,247...11,107,945 		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 chr17:11,102,284...11,107,949
Ensembl chr17:11,102,247...11,107,945 		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 3:100,067,052...100,103,624
Ensembl chr 3:100,067,052...100,103,624 		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 chr17:11,102,284...11,107,949
Ensembl chr17:11,102,247...11,107,945 		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 5:164,167,985...164,277,438
Ensembl chr 5:164,167,928...164,277,435 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:34,612,946...34,626,347 		JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chr16:18,699,389...18,708,045
Ensembl chr16:18,699,448...18,709,665 		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 1:92,689,577...92,698,125
Ensembl chr 1:92,689,577...92,697,406 		JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive | ClinVar Annotator: match by term: Spondylothoracic Dysostosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:143,165,914...143,168,520
Ensembl chr 1:143,165,849...143,168,511 		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 1:92,779,449...92,792,610
Ensembl chr 1:92,779,449...92,792,610 		JBrowse link
G Ripply2 ripply transcriptional repressor 2 ISO ClinVar Annotator: match by term: Spondylothoracic Dysostosis ClinVar PMID:25343988 PMID:28492532 NCBI chr 8:96,854,393...96,858,963
Ensembl chr 8:96,854,508...96,858,963 		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 2:117,413,206...117,436,758
Ensembl chr 2:117,418,601...117,436,754 		JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:22473653 NCBI chr 1:126,123,425...126,249,181
Ensembl chr 1:126,123,425...126,446,858 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO RGD PMID:21238647 RGD:11567270 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO RGD PMID:21238647 RGD:11567270 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:224,263,823...224,694,350
Ensembl chr 1:224,264,678...224,694,347 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Umbilical hernia ClinVar PMID:25741868 NCBI chr 5:163,623,847...163,650,737
Ensembl chr 5:163,623,848...163,651,110 		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 chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460 		JBrowse link
G Col3a1 collagen type III alpha 1 chain treatment IDA RGD PMID:26578432 RGD:11041579 NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:54,866,632...54,903,232 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18459
      reproductive system disease 3197
        female reproductive system disease 2196
          prolapse of female genital organ 189
            enterocele + 189
            lateral cystocele 0
            midline cystocele 0
            pelvic muscle wasting 0
            perineocele 0
            prolapse of urethra 0
Path 2
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18459
      Urogenital Diseases 5416
        Female Urogenital Diseases and Pregnancy Complications 2689
          Female Urogenital Diseases 2199
            female reproductive system disease 2196
              prolapse of female genital organ 189
                enterocele + 189
                lateral cystocele 0
                midline cystocele 0
                pelvic muscle wasting 0
                perineocele 0
                prolapse of urethra 0
paths to the root