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.
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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
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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
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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
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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
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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
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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
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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
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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
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Des
desmin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital diaphragmatic hernia
CTD ClinVar
PMID:14724127 PMID:15477095 PMID:16217025 PMID:16519886 PMID:16828798 PMID:16865695 PMID:17325244 PMID:17626518 PMID:20474083 PMID:21842594 PMID:22215463 PMID:23143191 PMID:23168288 PMID:23806086 PMID:23861362 PMID:24033266 PMID:24088041 PMID:25214167 PMID:25736269 PMID:25741868 PMID:26467025 PMID:27651373 PMID:28492532 More...
NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:26382659 PMID:28492532 PMID:23221805 PMID:26382659 PMID:23221805 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
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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
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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 PMID:27374936 PMID:28492532 More...
NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:28492532 PMID:29469822 PMID:30368668 PMID:30442762 PMID:30442766 PMID:30481304 PMID:30859559 More...
NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
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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 PMID:23806086 PMID:24088041 PMID:24728327 PMID:25605252 PMID:25736269 PMID:25741868 PMID:25859546 PMID:26467025 PMID:28492532 PMID:32934698 More...
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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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
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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
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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
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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
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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
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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
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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
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Pax3
paired box 3
ISO
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
ClinVar
PMID:8589691 PMID:8863157 PMID:9584079 PMID:9856573 PMID:23806086 PMID:24033266 PMID:24088041 PMID:25736269 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29407415 More...
NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Diaphragmatic eventration
ClinVar
PMID:25741868 PMID:26619011 PMID:27631024 PMID:28492532 PMID:31568861
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:24702427 PMID:25741868 PMID:28492532 PMID:33461977 More...
NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
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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
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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
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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 PMID:17576681 PMID:17632512 PMID:18414213 PMID:20301732 PMID:20359920 PMID:23033978 PMID:23048173 PMID:23992033 PMID:24319098 PMID:24406863 PMID:24876117 PMID:25158045 PMID:25326635 PMID:25682901 PMID:25741868 PMID:26118977 PMID:26284228 PMID:26350204 PMID:26529358 PMID:28492532 PMID:28539120 PMID:29992659 PMID:30167849 PMID:32238909 PMID:33103447 PMID:33461977 PMID:34979047 PMID:36474027 PMID:38177409 More...
NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
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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
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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
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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
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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
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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
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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
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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
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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
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Eng
endoglin
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 1
ClinVar
PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 PMID:25637381 PMID:25741868 PMID:28492532 More...
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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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 PMID:25741868 PMID:25873735 PMID:26070982 PMID:26123727 PMID:27001912 PMID:28492532 PMID:29127259 PMID:30315938 PMID:31130284 More...
NCBI chr 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479
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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
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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
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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
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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
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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 PMID:25741868 PMID:28272532 PMID:28492532 PMID:28805828 PMID:29127259 PMID:30141175 PMID:31564459 PMID:33333793 PMID:33532864 PMID:36856752 More...
NCBI chr15:24,137,149...24,144,568
Ensembl chr15:24,137,153...24,144,568
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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
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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
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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 PMID:30079490 More...
NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581
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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 PMID:30179222 More...
NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:15717203 PMID:17041936 PMID:18485326 PMID:25741868 PMID:28492532 PMID:29459493 More...
NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
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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
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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
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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
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