RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: enterocele
Accession: DOID:1283
browse the term
Definition: A prolapse of female genital organ that is characterized by the descent of a peritoneal sac containing small bowel into the rectovagnial space causing a bulge in the posterior vaginal wall. (DO)
Synonyms: exact_synonym: hernia; hernias
narrow_synonym: vaginal enterocele
primary_id: MESH:D006547
xref: EFO:0020006 ; ICD10CM:K46 ; ICD9CM:618.6
For additional species annotation, visit the
Alliance of Genome Resources .
G
Aldh18a1
aldehyde dehydrogenase 18 family, member A1
ISO
DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human)
RGD
PMID:26320891
RGD:13434923
NCBI chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890
G
Efemp1
EGF containing fibulin extracellular matrix protein 1
ISO
RGD
PMID:17872905
RGD:10401789
NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018
G
Pls3
plastin 3
ISO
ClinVar Annotator: match by term: Hernia, anterior diaphragmatic
OMIM ClinVar
PMID:25741868 PMID:37751738
NCBI chr X:111,589,193...111,683,908
Ensembl chr X:111,589,254...111,683,891
G
Alpk1
alpha-kinase 1
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157
G
Ank2
ankyrin 2
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
G
Ap1ar
adaptor-related protein complex 1 associated regulatory protein
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr 2:216,276,631...216,309,020
Ensembl chr 2:216,276,631...216,309,013
G
Fam241a
family with sequence similarity 241 member A
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr 2:216,344,563...216,375,193
Ensembl chr 2:216,343,822...216,375,242
G
Hmgn2
high mobility group nucleosomal binding domain 2
ISS
OMIM:180500
MouseDO
NCBI chr 5:146,192,126...146,195,580
Ensembl chr 5:146,192,126...146,195,521 Ensembl chr16:146,192,126...146,195,521
G
Larp7
La ribonucleoprotein 7, transcriptional regulator
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865
G
Neurog2
neurogenin 2
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr 2:216,092,709...216,095,276
Ensembl chr 2:216,093,363...216,094,154
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 PMID:11487566 PMID:12130547 PMID:12381896 PMID:12612071 PMID:15378534 PMID:15591271 PMID:15728254 PMID:15895993 PMID:16389592 PMID:16498627 PMID:16936096 PMID:17167399 PMID:17576681 PMID:18045789 PMID:18723525 PMID:19052653 PMID:19218601 PMID:19513095 PMID:20881294 PMID:22224469 PMID:22569110 PMID:24604414 PMID:25741868 PMID:26220699 PMID:28492532 PMID:28611552 PMID:28730073 PMID:29100920 PMID:29506241 PMID:29664915 PMID:30457409 PMID:31185933 PMID:31529555 PMID:32499604 PMID:33304895 PMID:33492563 PMID:35882526 More...
NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
G
Prdm5
PR/SET domain 5
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:26489929
NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
G
Tifa
TRAF-interacting protein with forkhead-associated domain
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr 2:216,257,926...216,267,635
Ensembl chr 2:216,234,774...216,267,841
G
Zgrf1
zinc finger, GRF-type containing 1
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr 2:216,012,911...216,075,608
Ensembl chr 2:216,013,005...216,074,750
G
Casq2
calsequestrin 2
ISO
ClinVar Annotator: match by term: Caudal regression sequence | ClinVar Annotator: match by term: Sacral defect with anterior meningocele
ClinVar
PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532
NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267
G
Cdx2
caudal type homeo box 2
ISO
ClinVar Annotator: match by term: Sirenomelia
ClinVar
PMID:25741868
NCBI chr12:7,726,798...7,733,142
Ensembl chr12:7,726,798...7,733,142
G
Pcsk5
proprotein convertase subtilisin/kexin type 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18519639
NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600
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 PMID:12220451 PMID:12434264 PMID:15731587 PMID:16084090 PMID:16163667 PMID:16244001 PMID:16835904 PMID:16917943 PMID:17081152 PMID:18505122 PMID:19648156 PMID:19919814 PMID:21118704 PMID:21514828 PMID:22696611 PMID:23558838 PMID:23919265 PMID:24033266 PMID:24433488 PMID:25268394 PMID:25558065 PMID:25735680 PMID:25741868 PMID:25960145 PMID:27586648 PMID:28492532 PMID:30236257 PMID:31206373 PMID:31559918 More...
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
G
Vangl1
VANGL planar cell polarity protein 1
ISO
ClinVar Annotator: match by term: Caudal regression sequence | ClinVar Annotator: match by term: Sacral defect with anterior meningocele CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:17409324 PMID:19319979 PMID:22892949 PMID:24033266 PMID:24307374 PMID:24407469 PMID:24452931 PMID:24838524 PMID:25068569 PMID:25208524 PMID:25741868 PMID:26196381 PMID:28492532 More...
NCBI chr 2:189,586,681...189,637,609
Ensembl chr 2:189,589,229...189,637,619
G
Zbtb16
zinc finger and BTB domain containing 16
IAGP
RGD
PMID:27727328
RGD:40924666
NCBI chr 8:48,989,376...49,177,011
Ensembl chr 8:48,994,566...49,177,011
G
Ace
angiotensin I converting enzyme
IEP
protein:increased activity:lung (rat)
RGD
PMID:9498404
RGD:12859277
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
G
Agtr2
angiotensin II receptor, type 2
IMP
RGD
PMID:22113494
RGD:6903875
NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
G
Atp7a
ATPase copper transporting alpha
IEP
mRNA, protein:decreased expression:diaphragm (rat)
RGD
PMID:25319798
RGD:11341670
NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354
G
Bmp4
bone morphogenetic protein 4
IEP
mRNA:decreased expression:heart:
RGD
PMID:18280291
RGD:9068407
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
G
Cbl
Cbl proto-oncogene
IEP
mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium:
RGD
PMID:23143077
RGD:11038813
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
G
Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30418988
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Ccn2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20939759 PMID:21258935
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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 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
G
Eln
elastin
IEP
mRNA,protein:increased expression:lung:
RGD
PMID:12194112
RGD:9585688
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
G
Ep300
E1A binding protein p300
IEP
mRNA:decreased expression:lung
RGD
PMID:24488106
RGD:9588310
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
G
Epo
erythropoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27880037
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
G
Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
ClinVar
PMID:23806086 PMID:24088041 PMID:25736269
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
G
Fgfrl1
fibroblast growth factor receptor-like 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital diaphragmatic hernia
CTD ClinVar
PMID:20938900 PMID:25741868 PMID:28492532 PMID:33443296
NCBI chr14:1,009,863...1,022,620
Ensembl chr14:1,009,786...1,021,928
G
Foxc2
forkhead box C2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27663689
NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
G
Foxf1
forkhead box F1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27663689
NCBI chr19:49,153,949...49,157,741
Ensembl chr19:49,153,699...49,157,738
G
Fras1
Fraser extracellular matrix complex subunit 1
ISO
ClinVar Annotator: match by term: Agenesis of hemidiaphragm | ClinVar Annotator: match by term: Congenital diaphragmatic hernia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
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 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
G
Frem2
FRAS1 related extracellular matrix 2
ISO
ClinVar Annotator: match by term: Agenesis of hemidiaphragm | ClinVar Annotator: match by term: Congenital diaphragmatic hernia
ClinVar
PMID:25741868 PMID:28492532 PMID:30143558
NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
G
Gata4
GATA binding protein 4
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:142340 | OMIM:222400 | OMIM:610187
CTD MouseDO
PMID:23426975
NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
G
Gata6
GATA binding protein 6
IEP ISO
mRNA:decreased expression:heart (rat) ClinVar Annotator: match by term: Agenesis of hemidiaphragm | ClinVar Annotator: match by term: DIH
ClinVar RGD
PMID:22158542 PMID:24385578 PMID:25741868 PMID:18280291
RGD:9068407
NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
G
Gli3
GLI family zinc finger 3
ISO
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
ClinVar
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
G
Htr2a
5-hydroxytryptamine receptor 2A
IEP
mRNA, protein:increased expression:lung
RGD
PMID:24888825
RGD:401901089
NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
G
Igf1
insulin-like growth factor 1
IEP
mRNA:decreased expression:heart (rat)
RGD
PMID:11409163
RGD:12904929
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
G
Igf1r
insulin-like growth factor 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20620343 PMID:21433279
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
G
Igf2
insulin-like growth factor 2
treatment
IEP
RGD
PMID:24352370
RGD:10402563
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
G
Igf2r
insulin-like growth factor 2 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20620343 PMID:21433279
NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
G
Igfbp3
insulin-like growth factor binding protein 3
IEP
RGD
PMID:19844724
RGD:10402761
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
G
Igfbp5
insulin-like growth factor binding protein 5
IEP
RGD
PMID:19844724
RGD:10402761
NCBI chr 9:74,452,371...74,464,953
Ensembl chr 9:74,448,382...74,465,156
G
Insr
insulin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21433279
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
G
Kcnq5
potassium voltage-gated channel subfamily Q member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28189443
NCBI chr 9:23,830,185...24,395,984
Ensembl chr 9:23,833,087...24,394,704
G
Kif7
kinesin family member 7
IEP ISS
mRNA,protein:decreased expression:diaphragmatic mesenchyme, pulmonary mesenchyme; OMIM:142340 | OMIM:222400 | OMIM:610187
MouseDO RGD
PMID:25921351
RGD:11553839
NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
G
Lcn2
lipocalin 2
IEP ISO
mRNA:decreased expression:lung protein:decreased expression:amniotic fluid
RGD
PMID:27592368 PMID:27592368
RGD:126790533 , RGD:126790533
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
G
Lrp1
LDL receptor related protein 1
ISS
OMIM:142340 | OMIM:222400 | OMIM:610187
MouseDO
NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
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 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
G
Met
MET proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Agenesis of hemidiaphragm
ClinVar
PMID:1104268 PMID:14559814 PMID:17483355 PMID:21970370 PMID:22703879 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
G
Mn1
MN1 proto-oncogene, transcriptional regulator
ISO
ClinVar Annotator: match by term: Agenesis of hemidiaphragm
ClinVar
PMID:25741868 PMID:31834374
NCBI chr12:45,181,794...45,220,959
Ensembl chr12:45,183,085...45,221,651
G
Myh6
myosin heavy chain 6
ISO
ClinVar Annotator: match by term: Agenesis of hemidiaphragm
ClinVar
PMID:23396983 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26656175 PMID:28492532 More...
NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
G
Myo15a
myosin XVA
ISO
ClinVar Annotator: match by term: Agenesis of hemidiaphragm
ClinVar
PMID:24033266 PMID:25741868 PMID:26445815 PMID:27375115 PMID:28492532
NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
G
Myod1
myogenic differentiation 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21258934
NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554
G
Myrf
myelin regulatory factor
ISO
DNA:mutations:multiple: ClinVar Annotator: match by term: Agenesis of hemidiaphragm
ClinVar RGD
PMID:25741868 PMID:30532227 PMID:30532227
RGD:200226345
NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157
G
Ndst1
N-deacetylase and N-sulfotransferase 1
ISS
OMIM:142340 | OMIM:222400 | OMIM:610187
MouseDO
NCBI chr18:54,136,887...54,199,545
Ensembl chr18:54,140,779...54,178,191
G
Nos3
nitric oxide synthase 3
IEP
protein:decreased expression:pulmonary artery (rat)
RGD
PMID:29216632
RGD:13504720
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Nr2f2
nuclear receptor subfamily 2, group F, member 2
ISS
OMIM:142340 | OMIM:222400 | OMIM:610187
MouseDO
NCBI chr 1:124,008,282...124,022,521
Ensembl chr 1:124,009,181...124,022,031
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 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
G
Pdgfra
platelet derived growth factor receptor alpha
ISS
OMIM:142340 | OMIM:222400 | OMIM:610187
MouseDO
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
G
Pgap3
post-GPI attachment to proteins phospholipase 3
ISO
ClinVar Annotator: match by term: Agenesis of hemidiaphragm
ClinVar
PMID:25741868 PMID:30345601
NCBI chr10:83,387,113...83,399,357
Ensembl chr10:83,387,113...83,398,628
G
Pim1
Pim-1 proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25812446
NCBI chr20:7,554,921...7,559,174
Ensembl chr20:7,554,921...7,559,174
G
Pls3
plastin 3
ISS ISO
OMIM:142340 | OMIM:222400 | OMIM:610187 ClinVar Annotator: match by term: Congenital diaphragmatic hernia
MouseDO ClinVar
PMID:25741868 PMID:37751738
NCBI chr X:111,589,193...111,683,908
Ensembl chr X:111,589,254...111,683,891
G
Rhoa
ras homolog family member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25783350
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
G
Robo4
roundabout guidance receptor 4
ISO
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
ClinVar
NCBI chr 8:37,119,953...37,133,887
Ensembl chr 8:37,119,988...37,132,519
G
Sftpa1
surfactant protein A1
treatment
IEP
RGD
PMID:11051153
RGD:151667435
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
G
Sftpb
surfactant protein B
treatment
IEP
RGD
PMID:11051153
RGD:151667435
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
G
Slc6a4
solute carrier family 6 member 4
IEP
protein:increased expression:lung
RGD
PMID:24888825
RGD:401901089
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
G
Slit2
slit guidance ligand 2
IEP
mRNA:increased expression:lung
RGD
PMID:19944214
RGD:243048459
NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
G
Slit3
slit guidance ligand 3
ISS IEP
OMIM:142340 | OMIM:222400 | OMIM:610187 mRNA:increased expression:lung
MouseDO RGD
PMID:19944214
RGD:243048459
NCBI chr10:19,571,798...20,156,634
Ensembl chr10:19,571,684...20,156,634
G
Sod1
superoxide dismutase 1
IEP
mRNA:decreased expression:lung
RGD
PMID:26534761
RGD:11035301
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
G
Sod2
superoxide dismutase 2
IEP
mRNA:decreased expression:lung
RGD
PMID:26534761
RGD:11035301
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
G
Sox7
SRY-box transcription factor 7
ISS
OMIM:142340 | OMIM:222400 | OMIM:610187
MouseDO
NCBI chr15:38,180,503...38,187,264
Ensembl chr15:38,180,503...38,187,264
G
Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25812446
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
G
Tnf
tumor necrosis factor
IEP
RGD
PMID:10541330
RGD:12904053
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Vegfa
vascular endothelial growth factor A
IEP
protein:decreased expression:lung:
RGD
PMID:15879288
RGD:7421593
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
G
Wnt11
Wnt family member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25783350
NCBI chr 1:153,134,503...153,154,294
Ensembl chr 1:153,138,197...153,154,294
G
Wt1
WT1 transcription factor
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:142340 | OMIM:222400 | OMIM:610187
CTD MouseDO
PMID:21072664
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
G
Zfpm2
zinc finger protein, multitype 2
ISS
OMIM:142340 | OMIM:222400 | OMIM:610187
MouseDO
NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
G
Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16292651
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
G
Agtr1a
angiotensin II receptor, type 1a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16292651
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
G
Agtr1b
angiotensin II receptor, type 1b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16292651
NCBI chr 2:102,844,969...102,920,232
Ensembl chr 2:102,844,969...102,920,232
G
Aqp5
aquaporin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17245593 PMID:17270560
NCBI chr 7:130,722,675...130,726,207
Ensembl chr 7:130,721,748...130,726,209
G
Bmp4
bone morphogenetic protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18280291
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
G
Cftr
CF transmembrane conductance regulator
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16473863
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
G
Edn1
endothelin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9473106 PMID:10693666
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
G
Ednra
endothelin receptor type A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9473106 PMID:10693666
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
G
Ednrb
endothelin receptor type B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10693666
NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
G
Eln
elastin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10359170
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
G
Fgf18
fibroblast growth factor 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17303798
NCBI chr10:17,706,011...17,737,702
Ensembl chr10:17,706,174...17,736,818
G
Fgf2
fibroblast growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10646786
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
G
Foxa2
forkhead box A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16863852
NCBI chr 3:135,470,123...135,474,326
Ensembl chr 3:135,470,131...135,474,326
G
Gata4
GATA binding protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18280291
NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
G
Gata6
GATA binding protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18280291
NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
G
Gja1
gap junction protein, alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16292552 PMID:16720372
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
G
Hoxa5
homeo box A5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18351244
NCBI chr 4:81,302,341...81,306,234
Ensembl chr 4:81,302,353...81,306,234
G
Hoxb3
homeo box B3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18351244
NCBI chr10:81,258,739...81,314,134
Ensembl chr10:81,299,357...81,313,107
G
Icam1
intercellular adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12759764 PMID:17245593
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
G
Igf1
insulin-like growth factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10370016
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
G
Igf2
insulin-like growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10370016
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18500730
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Kcna2
potassium voltage-gated channel subfamily A member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15088113
NCBI chr 2:194,704,555...194,718,387
Ensembl chr 2:194,704,639...194,718,400
G
Kcnb1
potassium voltage-gated channel subfamily B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15088113
NCBI chr 3:155,820,255...155,913,383
Ensembl chr 3:155,822,963...155,916,194
G
Kcnma1
potassium calcium-activated channel subfamily M alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15088113
NCBI chr15:302,480...1,007,675
Ensembl chr15:302,214...1,001,198
G
Lrp2
LDL receptor related protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17632512
NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
G
Myod1
myogenic differentiation 1
IEP
mRNA:decreased expression:diaphragm
RGD
PMID:21258934
RGD:9686080
NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554
G
Nkx2-1
NK2 homeobox 1
IEP ISO
mRNA, protein:increased expression:lung CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10830305 PMID:16863852 PMID:17245593
RGD:1600158
NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791
G
Nos3
nitric oxide synthase 3
IEP ISO
mRNA, protein:decreased expression:lung CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:7576705 PMID:8863223 PMID:7576705
RGD:5132862
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Nppa
natriuretic peptide A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11584395
NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
G
Nr2f2
nuclear receptor subfamily 2, group F, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17436238
NCBI chr 1:124,008,282...124,022,521
Ensembl chr 1:124,009,181...124,022,031
G
Pax3
paired box 3
IEP
mRNA:decreased expression:heart (rat)
RGD
PMID:15616818
RGD:1580942
NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042
G
Rxra
retinoid X receptor alpha
IEP
mRNA:increased expression:lung
RGD
PMID:17270546
RGD:1643107
NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712
G
Sftpb
surfactant protein B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10830305 PMID:16863852
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
G
Sftpc
surfactant protein C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10751355
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
G
Slit3
slit guidance ligand 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17436238
NCBI chr10:19,571,798...20,156,634
Ensembl chr10:19,571,684...20,156,634
G
Stra6
signaling receptor and transporter of retinol STRA6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17273977
NCBI chr 8:58,548,899...58,568,861
Ensembl chr 8:58,549,736...58,568,860
G
Tgfb1
transforming growth factor, beta 1
IEP ISO
protein:increased expression:lung CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10646786 PMID:19635314
RGD:4145129
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
G
Thra
thyroid hormone receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11685700
NCBI chr10:83,701,885...83,729,408
Ensembl chr10:83,700,755...83,729,936
G
Thrb
thyroid hormone receptor beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11685700
NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916
G
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10541330
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Uchl1
ubiquitin C-terminal hydrolase L1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18958481
NCBI chr14:41,485,031...41,495,590
Ensembl chr14:41,485,031...41,495,590
G
Vcam1
vascular cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12759764
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
G
Wt1
WT1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17436238
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
G
Zfpm2
zinc finger protein, multitype 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17436238
NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
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 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
G
Aldh1a2
aldehyde dehydrogenase 1 family, member A2
ISO
ClinVar Annotator: match by term: Diaphragmatic hernia 4, with cardiovascular defects
OMIM ClinVar
PMID:25741868 PMID:33565183
NCBI chr 8:71,877,850...71,957,107
Ensembl chr 8:71,877,850...71,957,107
G
Lmbrd1
LMBR1 domain containing 1
ISO
ClinVar Annotator: match by term: Donnai-Barrow syndrome
ClinVar
PMID:19136951 PMID:25741868 PMID:28492532
NCBI chr 9:27,096,387...27,178,095
Ensembl chr 9:27,096,297...27,178,090
G
Lrp2
LDL receptor related protein 2
ISO ISS
ClinVar Annotator: match by term: Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria | ClinVar Annotator: match by term: Donnai-Barrow syndrome | ClinVar Annotator: match by term: LRP2-related condition OMIM:222448 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:8266995 PMID:9475100 PMID:9536098 PMID:12923867 PMID:16199547 PMID:17576681 PMID:17632512 PMID:18414213 PMID:20301732 PMID:20359920 PMID:23033978 PMID:23048173 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
G
Cc2d2a
coiled-coil and C2 domain containing 2A
ISO
ClinVar Annotator: match by term: Encephalocele
ClinVar
PMID:19777577 PMID:25741868 PMID:26862157 PMID:28492532 PMID:31680349
NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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 PMID:20683928 PMID:20690115 PMID:21866095 PMID:23847139 PMID:25525159 PMID:25741868 PMID:26092869 PMID:27894351 PMID:28492532 PMID:28497568 PMID:29398085 PMID:31680349 PMID:31734136 PMID:35005812 More...
NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
G
Dnai3
dynein axonemal intermediate chain 3
ISO
ClinVar Annotator: match by term: Occipital encephalocele
ClinVar
PMID:29285825
NCBI chr 2:234,947,910...235,006,173
Ensembl chr 2:234,929,677...235,006,173
G
Pibf1
progesterone immunomodulatory binding factor 1
ISO
ClinVar Annotator: match by term: Cephalocele
ClinVar
PMID:25741868 PMID:26167768 PMID:30858804 PMID:31474318
NCBI chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712
G
Rpgrip1l
Rpgrip1-like
ISO
associated with Meckel Syndrome, Type 5;DNA:mutations:exons:
RGD
PMID:17558409
RGD:11073359
NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
G
Szt2
SZT2 subunit of KICSTOR complex
ISO
ClinVar Annotator: match by term: Encephalocele
ClinVar
PMID:23932106 PMID:25741868 PMID:28492532 PMID:31680349
NCBI chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904
G
Gon7
GON7 subunit of KEOPS complex
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome
ClinVar
PMID:25741868 PMID:31481669
NCBI chr 6:121,882,565...121,898,452
Ensembl chr 6:121,885,694...121,898,643 Ensembl chr 6:121,885,694...121,898,643
G
Lage3
L antigen family, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28805828
NCBI chr X:152,138,209...152,139,632
Ensembl chr X:152,138,218...152,139,632
G
Osgep
O-sialoglycoprotein endopeptidase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Galloway-Mowat syndrome
CTD ClinVar
PMID:17897280 PMID:25741868 PMID:28272532 PMID:28805828
NCBI chr15:24,137,149...24,144,568
Ensembl chr15:24,137,153...24,144,568
G
Tp53rka
Tp53 tumor protein p53 regulating kinase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28805828
NCBI chr 3:154,219,672...154,224,841
Ensembl chr 3:154,220,851...154,224,328
G
Tprkb
Tp53rk binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28805828
NCBI chr 4:118,342,910...118,357,908
Ensembl chr 4:118,342,945...118,357,901
G
Wdr4
WD repeat domain 4
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome
ClinVar
PMID:25741868 PMID:30079490
NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581
G
Wdr73
WD repeat domain 73
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Galloway-Mowat syndrome
CTD ClinVar
PMID:25466283 PMID:25741868
NCBI chr 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479
G
Zfp592
zinc finger protein 592
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20531441
NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443
G
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
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 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
G
Zfp592
zinc finger protein 592
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 1
ClinVar
PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727
NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443
G
C5h1orf122
similar to human chromosome 1 open reading frame 122
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 10
ClinVar
PMID:31481669
NCBI chr 5:137,109,093...137,110,130
Ensembl chr 5:137,108,633...137,110,929
G
Yrdc
yrdC N(6)-threonylcarbamoyltransferase domain containing
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 10
OMIM ClinVar
PMID:31481669 PMID:34545459
NCBI chr 5:137,110,244...137,115,127
Ensembl chr 5:137,110,279...137,115,120
G
Lage3
L antigen family, member 3
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked
OMIM ClinVar
PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828
NCBI chr X:152,138,209...152,139,632
Ensembl chr X:152,138,218...152,139,632
G
Osgep
O-sialoglycoprotein endopeptidase
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 3
OMIM ClinVar
PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 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
G
Tp53rka
Tp53 tumor protein p53 regulating kinase A
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 4
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 PMID:36873107
NCBI chr 3:154,219,672...154,224,841
Ensembl chr 3:154,220,851...154,224,328
G
Tprkb
Tp53rk binding protein
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 5
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259
NCBI chr 4:118,342,910...118,357,908
Ensembl chr 4:118,342,945...118,357,901
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 PMID:30079490 More...
NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581
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 PMID:30179222 More...
NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370
G
Nup133
nucleoporin 133
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 8
OMIM ClinVar
PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554
NCBI chr19:51,891,606...51,941,243
Ensembl chr19:51,891,629...51,941,239
G
Gon7
GON7 subunit of KEOPS complex
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 9
OMIM ClinVar
PMID:25741868 PMID:31481669
NCBI chr 6:121,882,565...121,898,452
Ensembl chr 6:121,885,694...121,898,643 Ensembl chr 6:121,885,694...121,898,643
G
Add1
adducin 1
ISO
DNA:SNP: :p.G460W (human)
RGD
PMID:17051589
RGD:5148000
NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182
G
Igf1r
insulin-like growth factor 1 receptor
IEP
protein:increased expression:liver, intestine (rat)
RGD
PMID:23381816
RGD:12904922
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
G
Kit
KIT proto-oncogene receptor tyrosine kinase
severity
IEP
protein:decreased expression:intestine:
RGD
PMID:15486901
RGD:12910745
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
G
Lrp1
LDL receptor related protein 1
ISS
OMIM:230750
MouseDO
NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
G
Nos2
nitric oxide synthase 2
IEP
protein:increased expression:intestine (rat)
RGD
PMID:21960425
RGD:5508749
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
G
Barx1
BARX homeobox 1
ISO
ClinVar Annotator: match by term: Hiatus hernia
ClinVar
NCBI chr17:15,990,412...15,993,887
Ensembl chr17:15,990,412...15,993,887
G
Fam120a
family with sequence similarity 120 member A
ISO
ClinVar Annotator: match by term: Hiatus hernia
ClinVar
NCBI chr17:15,684,233...15,774,964
Ensembl chr17:15,684,233...15,774,964
G
Fbp1
fructose-bisphosphatase 1
ISO
ClinVar Annotator: match by term: Hiatus hernia
ClinVar
NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071
G
Fbp2
fructose-bisphosphatase 2
ISO
ClinVar Annotator: match by term: Hiatus hernia
ClinVar
NCBI chr17:2,236,088...2,253,702
Ensembl chr17:2,236,336...2,253,698
G
Mfsd14b
major facilitator superfamily domain containing 14B
ISO
ClinVar Annotator: match by term: Hiatus hernia
ClinVar
NCBI chr17:77,895...130,837
Ensembl chr17:77,840...130,839
G
Mirlet7a1
microRNA let-7a-1
ISO
ClinVar Annotator: match by term: Hiatus hernia
ClinVar
NCBI chr17:16,113,766...16,113,859
Ensembl chr17:16,113,768...16,113,867
G
Mirlet7d
microRNA let-7d
ISO
ClinVar Annotator: match by term: Hiatus hernia
ClinVar
NCBI chr17:16,115,893...16,115,990
Ensembl chr17:16,115,893...16,115,990
G
Mirlet7f-1
microRNA let7f-1
ISO
ClinVar Annotator: match by term: Hiatus hernia
ClinVar
NCBI chr17:16,114,130...16,114,226
Ensembl chr17:16,114,130...16,114,226
G
Phf2
PHD finger protein 2
ISO
ClinVar Annotator: match by term: Hiatus hernia
ClinVar
NCBI chr17:15,783,221...15,851,209
Ensembl chr17:15,781,864...15,851,208
G
Ptpdc1
protein tyrosine phosphatase domain containing 1
ISO
ClinVar Annotator: match by term: Hiatus hernia
ClinVar
NCBI chr17:16,028,964...16,076,512
Ensembl chr17:16,049,382...16,076,512
G
Zfp169
zinc finger protein 169
ISO
ClinVar Annotator: match by term: Hiatus hernia
ClinVar
NCBI chr17:16,139,204...16,167,242
Ensembl chr17:16,139,253...16,169,914
G
Actl6a
actin-like 6A
ISO
ClinVar Annotator: match by term: Inguinal hernia
ClinVar
PMID:19215055 PMID:25741868 PMID:28649782 PMID:31994175
NCBI chr 2:115,492,374...115,508,401
Ensembl chr 2:115,492,285...115,508,401
G
Col5a1
collagen type V alpha 1 chain
ISO
ClinVar Annotator: match by term: Inguinal hernia
ClinVar
PMID:25741868
NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
G
Eln
elastin
ISO
ClinVar Annotator: match by term: Inguinal hernia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
G
Irak1
interleukin-1 receptor-associated kinase 1
ISO
ClinVar Annotator: match by term: Inguinal hernia
ClinVar
PMID:25741868
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
G
Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Inguinal hernia
ClinVar
PMID:10712197 PMID:23656349 PMID:23913538 PMID:25741868 PMID:28492532
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
G
Tgfbr2
transforming growth factor, beta receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16885183
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
G
Adamts18
ADAM metallopeptidase with thrombospondin type 1 motif, 18
ISO
ClinVar Annotator: match by term: Knobloch syndrome
ClinVar
PMID:21862674 PMID:23667181 PMID:28492532
NCBI chr19:41,686,951...41,840,035
Ensembl chr19:41,688,617...41,839,781
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 PMID:16199547 PMID:17546652 PMID:17576681 PMID:17975799 PMID:19160445 PMID:19390655 PMID:20799329 PMID:20979194 PMID:21862674 PMID:21937992 PMID:23667181 PMID:24033266 PMID:25456301 PMID:25741868 PMID:26467025 PMID:27259167 PMID:28041643 PMID:28144890 PMID:28492532 PMID:29977801 PMID:30007336 PMID:31415705 PMID:32581362 PMID:32860008 PMID:34828430 More...
NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593
G
Pak2
p21 (RAC1) activated kinase 2
ISO
ClinVar Annotator: match by term: Knobloch syndrome
ClinVar
PMID:9677068 PMID:14695535 PMID:33693784
NCBI chr11:68,707,940...68,768,816
Ensembl chr11:68,707,969...68,768,816
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 PMID:17576681 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 PMID:23667181 PMID:24033266 PMID:25456301 PMID:25741868 PMID:26467025 PMID:28041643 PMID:28492532 PMID:29977801 PMID:32860008 PMID:34828430 More...
NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
G
Col18a1
collagen type XVIII alpha 1 chain
ISO
ClinVar Annotator: match by term: COL18A1-related condition | ClinVar Annotator: match by term: Knobloch syndrome 1
OMIM ClinVar
PMID:9536098 PMID:12415512 PMID:14695535 PMID:16199547 PMID:17576681 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 PMID:23040494 PMID:23667181 PMID:24507774 PMID:25024173 PMID:25456301 PMID:25741868 PMID:26467025 PMID:27259167 PMID:28041643 PMID:28144890 PMID:28492532 PMID:29977801 PMID:31415705 PMID:34828430 More...
NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593
G
Slc19a1
solute carrier family 19 member 1
ISO
ClinVar Annotator: match by term: COL18A1-related condition | ClinVar Annotator: match by term: Knobloch syndrome 1
ClinVar
PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 PMID:23667181 PMID:25456301 PMID:25741868 PMID:26467025 PMID:28041643 PMID:28492532 PMID:29977801 PMID:34828430 More...
NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
G
Pak2
p21 (RAC1) activated kinase 2
ISO
ClinVar Annotator: match by term: Knobloch syndrome 2
OMIM ClinVar
PMID:25741868
NCBI chr11:68,707,940...68,768,816
Ensembl chr11:68,707,969...68,768,816
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 PMID:10371548 PMID:10854111 PMID:10969905 PMID:11102981 PMID:11486103 PMID:11715067 PMID:11755616 PMID:11757773 PMID:11771160 PMID:12482954 PMID:12754354 PMID:12810003 PMID:15229130 PMID:15350543 PMID:15364702 PMID:15378071 PMID:15666314 PMID:15857853 PMID:15995828 PMID:16009764 PMID:16580020 PMID:17122431 PMID:17390743 PMID:18948701 PMID:19006080 PMID:19174371 PMID:19359623 PMID:19417009 PMID:19542611 PMID:19576955 PMID:19825845 PMID:20071773 PMID:20301673 PMID:20935329 PMID:21337686 PMID:21737310 PMID:21940951 PMID:22006983 PMID:22019870 PMID:22153900 PMID:22218279 PMID:22373597 PMID:22623959 PMID:22795385 PMID:23584202 PMID:23696373 PMID:23844775 PMID:24033266 PMID:24086431 PMID:24425116 PMID:24886907 PMID:25260786 PMID:25344745 PMID:25394726 PMID:25412914 PMID:25604251 PMID:25741868 PMID:25801821 PMID:25819272 PMID:25929831 PMID:25980907 PMID:26261665 PMID:26467025 PMID:26646783 PMID:26754023 PMID:26806700 PMID:27350778 PMID:27844030 PMID:27881154 PMID:28334938 PMID:28479817 PMID:28492532 PMID:28534048 PMID:28710804 PMID:28991717 PMID:30311053 PMID:30956055 PMID:31418856 PMID:32172663 PMID:32277177 PMID:32555735 PMID:32581362 PMID:32765252 PMID:34008892 PMID:34335700 PMID:35754959 More...
NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
G
B9d1
B9 domain containing 1
ISO
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
G
B9d2
B9 domain containing 2
ISO
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
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 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:21068128 PMID:22241855 PMID:22246503 PMID:22425360 PMID:23012439 PMID:23351400 PMID:24033266 PMID:24360807 PMID:25525159 PMID:25741868 PMID:26092869 PMID:26477546 PMID:26485645 PMID:26673778 PMID:27081510 PMID:27082236 PMID:27959436 PMID:28125082 PMID:28492532 PMID:28518168 PMID:29146704 PMID:31618753 PMID:31964843 PMID:32461654 PMID:32488064 PMID:34194672 More...
NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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: 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 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17705300 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19764032 PMID:19959640 PMID:20079931 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21866095 PMID:22334370 PMID:22355252 PMID:22693042 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24474277 PMID:25097241 PMID:25377065 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26062849 PMID:26092869 PMID:26467025 PMID:26529047 PMID:26673778 PMID:27208204 PMID:27353947 PMID:27422788 PMID:28041643 PMID:28157192 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:29146704 PMID:29178642 PMID:29217415 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29641573 PMID:29754767 PMID:29844330 PMID:29974258 PMID:30190494 PMID:30193310 PMID:30559420 PMID:30718709 PMID:30902645 PMID:31054281 PMID:31091803 PMID:31411728 PMID:31630094 PMID:31734136 PMID:31877679 PMID:31884610 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32165824 PMID:32208788 PMID:32600475 PMID:32856788 PMID:32865313 PMID:33105651 PMID:33308271 PMID:33502066 PMID:33532864 PMID:33546218 PMID:33574314 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34196655 PMID:34906470 PMID:35764379 PMID:36909829 More...
NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
G
Fto
FTO, alpha-ketoglutarate dependent dioxygenase
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar
PMID:28492532
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
G
Hoxb6
homeo box B6
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar
PMID:25741868
NCBI chr10:81,258,726...81,267,458
Ensembl chr10:81,265,056...81,267,449
G
Mks1
MKS transition zone complex subunit 1
ISO
ClinVar Annotator: match by term: Dysencephalia splachnocystica | 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 PMID:17397051 PMID:17437276 PMID:17576681 PMID:17935508 PMID:18327255 PMID:19430481 PMID:19466712 PMID:20301500 PMID:21068128 PMID:21228398 PMID:21258341 PMID:23169490 PMID:23351400 PMID:23602711 PMID:23736532 PMID:24033266 PMID:24608809 PMID:24886560 PMID:25326637 PMID:25363768 PMID:25741868 PMID:26092869 PMID:26490104 PMID:26862157 PMID:27353947 PMID:27377014 PMID:27570071 PMID:28224992 PMID:28492532 PMID:28497568 PMID:28771248 PMID:29620724 PMID:30055837 PMID:30076350 PMID:30679815 PMID:30718709 PMID:30902645 PMID:31191208 PMID:31456290 PMID:31964843 PMID:33584783 PMID:34008892 PMID:34011629 PMID:34359301 PMID:34582790 PMID:35587316 PMID:23351400 PMID:17935508 PMID:19776033 PMID:21045211 PMID:17397051 More...
RGD:11535078 , RGD:11535074 , RGD:11535068 , RGD:11535065 , RGD:11063991
NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
G
Nphp3
nephrocystin 3
ISO
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
G
Rlig1
RNA 5'-phosphate and 3'-OH ligase 1
ISO
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar
PMID:25741868 PMID:28492532 PMID:34196655
NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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
PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 PMID:17960139 PMID:18414213 PMID:18565097 PMID:19430481 PMID:20301500 PMID:21068128 PMID:21866095 PMID:25741868 PMID:26092869 PMID:27434533 PMID:28492532 PMID:28771248 PMID:31390572 PMID:36468023 More...
NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
G
Snord118
small nucleolar RNA, C/D box 118
ISO
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1
ClinVar
PMID:25741868 PMID:27571260
NCBI chr10:53,774,811...53,774,946
Ensembl chr10:53,774,811...53,774,946
G
Tctn1
tectonic family member 1
ISO
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar
PMID:21725307 PMID:22693042 PMID:25741868 PMID:27894351 PMID:28492532
NCBI chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267
G
Tmem107
transmembrane protein 107
ISO
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1
ClinVar
PMID:25741868 PMID:27571260
NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
G
Tmem231
transmembrane protein 231
ISO
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar
PMID:9536098 PMID:17576681 PMID:23349226 PMID:25558065 PMID:25741868 PMID:25869670 PMID:28492532 More...
NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269
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
PMID:2929661 PMID:9375913 PMID:9536098 PMID:17160906 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:22700954 PMID:23034536 PMID:23351400 PMID:23559409 PMID:24033266 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28125082 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28973083 PMID:29127258 PMID:29146704 PMID:29891882 PMID:34964473 More...
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
G
Kif14
kinesin family member 14
ISO
ClinVar Annotator: match by term: Meckel syndrome 12
OMIM ClinVar
PMID:24128419 PMID:25741868 PMID:28492532
NCBI chr13:47,926,975...47,990,598
Ensembl chr13:47,927,044...47,989,164
G
Tmem107
transmembrane protein 107
ISO
ClinVar Annotator: match by term: Meckel syndrome 13
OMIM ClinVar
PMID:25741868 PMID:26123494 PMID:26595381
NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
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 PMID:22282472 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26673778 PMID:28492532 PMID:28497568 PMID:20512146 More...
RGD:11067331
NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754
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 PMID:16541367 PMID:17160906 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21493627 PMID:21633164 PMID:21866095 PMID:22121117 PMID:22700954 PMID:23351400 PMID:23559409 PMID:24033266 PMID:24039893 PMID:25326635 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26123494 PMID:26191240 PMID:26275793 PMID:26467025 PMID:26546361 PMID:26729329 PMID:27491411 PMID:28125082 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28771248 PMID:28973083 PMID:29127258 PMID:29146704 PMID:29261186 PMID:29891882 PMID:29974258 PMID:30029678 PMID:30476936 PMID:31411728 PMID:32000717 PMID:34032358 PMID:34675960 PMID:26035863 PMID:19211713 PMID:16415887 PMID:16415887 PMID:26191240 PMID:23351400 PMID:17377820 PMID:17397051 More...
RGD:329950577 , RGD:11535945 , RGD:11535082 , RGD:11535082 , RGD:11535080 , RGD:11535078 , RGD:11068761 , RGD:11063991
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
G
Tmem67wpk
transmembrane protein 67; wpk mutant
IAGP
RGD
PMID:16415887
RGD:11535082
G
Cep290
centrosomal protein 290
ISO
ClinVar Annotator: match by term: CEP290-related disorder | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4 CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) DNA:frameshift mutation:exon:c.5489del (human)
OMIM ClinVar CTD RGD
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17617513 PMID:17705300 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19764032 PMID:19959640 PMID:20079931 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21866095 PMID:22334370 PMID:22355252 PMID:22446187 PMID:22693042 PMID:22699515 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24265693 PMID:24474277 PMID:25097241 PMID:25324289 PMID:25439097 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26062849 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26529047 PMID:26667666 PMID:26673778 PMID:27208204 PMID:27353947 PMID:27375279 PMID:27422788 PMID:27894351 PMID:28041643 PMID:28157192 PMID:28224992 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:28912962 PMID:28973549 PMID:29053603 PMID:29146704 PMID:29178642 PMID:29217415 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29641573 PMID:29754767 PMID:29844330 PMID:29974258 PMID:30190494 PMID:30193310 PMID:30559420 PMID:30718709 PMID:30776697 PMID:30879067 PMID:30897646 PMID:30902645 PMID:31054281 PMID:31091803 PMID:31411728 PMID:31624253 PMID:31630094 PMID:31680349 PMID:31734136 PMID:31877679 PMID:31884610 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32165824 PMID:32208788 PMID:32600475 PMID:32856788 PMID:32865313 PMID:33249554 PMID:33308271 PMID:33502066 PMID:33532864 PMID:33546218 PMID:33574314 PMID:33726816 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34196655 PMID:34795310 PMID:34906470 PMID:35005812 PMID:35764379 PMID:35836572 PMID:36460718 PMID:36909829 PMID:37008293 PMID:38709228 PMID:17564974 PMID:17705300 More...
RGD:11063677 , RGD:11070805
NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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 PMID:29588463 PMID:30193310 PMID:34196655 More...
NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
G
Tmem218
transmembrane protein 218
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 4
ClinVar
PMID:25741868 PMID:33791682
NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
G
Rpgrip1l
Rpgrip1-like
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 5 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:17558407 PMID:17558409 PMID:17960139 PMID:18414213 PMID:18565097 PMID:19430481 PMID:20301500 PMID:21068128 PMID:21866095 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:27434533 PMID:28492532 PMID:28771248 PMID:29343940 PMID:31328266 PMID:31390572 PMID:33323469 PMID:35233738 PMID:35858853 More...
NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
G
Cc2d2a
coiled-coil and C2 domain containing 2A
ISO
ClinVar Annotator: match by term: CC2D2A-related disorder | ClinVar Annotator: match by term: Meckel syndrome, type 6 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:3631907 PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18513680 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:21068128 PMID:21370303 PMID:21866095 PMID:22241855 PMID:22246503 PMID:22425360 PMID:22995991 PMID:23012439 PMID:23351400 PMID:24360807 PMID:24706459 PMID:25525159 PMID:25741868 PMID:26003401 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26485645 PMID:26673778 PMID:26729329 PMID:27081510 PMID:27082236 PMID:27894351 PMID:27959436 PMID:28125082 PMID:28492532 PMID:28518168 PMID:29039169 PMID:29146704 PMID:29987673 PMID:30202406 PMID:31130284 PMID:31618753 PMID:31964843 PMID:32165824 PMID:32461654 PMID:32488064 PMID:33486889 PMID:34194672 PMID:34645488 PMID:38987663 More...
NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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 PMID:18327255 PMID:18414213 PMID:20690115 PMID:21068128 PMID:21245082 PMID:22355252 PMID:22693042 PMID:23591405 PMID:23954617 PMID:25741868 PMID:25818971 PMID:26092869 PMID:27353947 PMID:28492532 PMID:30718709 More...
NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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 PMID:26729329 PMID:27894351 PMID:28492532 PMID:31428121 PMID:32552793 More...
NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
G
Alx4
ALX homeobox 4
ISO ISS
ClinVar Annotator: match by term: Cranium bifidum occultum OMIM:168500 | OMIM:609566 | OMIM:609597 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD
PMID:11137991
NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
G
Msx2
msh homeobox 2
ISO ISS
CTD Direct Evidence: marker/mechanism 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 PMID:10742103 PMID:10742104 PMID:10767351 PMID:11137991 PMID:14571277 PMID:16319823 PMID:18786927 PMID:20301307 PMID:22948472 PMID:23918290 PMID:23949913 PMID:24666290 PMID:25741868 PMID:27013732 PMID:27884935 PMID:28492532 More...
NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879
G
Msx2
msh homeobox 2
ISO
ClinVar Annotator: match by term: Parietal foramina 1
OMIM ClinVar
PMID:10742103 PMID:10767351 PMID:16222674 PMID:25741868 PMID:28492532
NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879
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 PMID:25741868 PMID:28492532 More...
NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
G
Msx2
msh homeobox 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia
OMIM CTD ClinVar
PMID:14571277
NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879
G
Mtor
mechanistic target of rapamycin kinase
ISO
ClinVar Annotator: match by term: MTOR-related condition | ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | ClinVar Annotator: match by term: Neurodevelopmental disorder, MTOR related | ClinVar Annotator: match by term: Overgrowth syndrome | ClinVar Annotator: match by term: Smith-Kingsmore syndrome
OMIM ClinVar
PMID:21210909 PMID:22729223 PMID:23322780 PMID:23636326 PMID:24625776 PMID:24631838 PMID:25599672 PMID:25741868 PMID:25799227 PMID:25851998 PMID:26542245 PMID:26619011 PMID:27159400 PMID:27279227 PMID:27482884 PMID:27513193 PMID:27753196 PMID:27830187 PMID:28475857 PMID:28492532 PMID:28554332 PMID:28892148 PMID:29051493 PMID:29281825 PMID:31441589 PMID:31444548 PMID:32581362 PMID:33077954 PMID:34197453 More...
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
G
Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: Overgrowth syndrome
ClinVar
PMID:25741868
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
G
Pik3r2
phosphoinositide-3-kinase regulatory subunit 2
ISO
ClinVar Annotator: match by term: Overgrowth syndrome
ClinVar
PMID:25741868
NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065
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 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
G
Mesp2
mesoderm posterior bHLH transcription factor 2
ISO
ClinVar Annotator: match by term: Spondylothoracic Dysostosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:133,756,601...133,759,207
Ensembl chr 1:133,756,601...133,759,198
G
Plekhg2
pleckstrin homology and RhoGEF domain containing G2
ISO
ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:83,651,902...83,665,063
Ensembl chr 1:83,647,748...83,665,063
G
Ripply2
ripply transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Spondylothoracic Dysostosis
ClinVar
PMID:25343988 PMID:25741868 PMID:28492532
NCBI chr 8:87,974,444...87,979,002
Ensembl chr 8:87,974,776...87,978,969
G
Actl6a
actin-like 6A
ISO
ClinVar Annotator: match by term: Umbilical hernia
ClinVar
PMID:19215055 PMID:25741868 PMID:28649782 PMID:31994175
NCBI chr 2:115,492,374...115,508,401
Ensembl chr 2:115,492,285...115,508,401
G
Chrna7
cholinergic receptor nicotinic alpha 7 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22473653
NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240
G
Fgfr1
Fibroblast growth factor receptor 1
ISO
RGD
PMID:21238647
RGD:11567270
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
G
Fgfr2
fibroblast growth factor receptor 2
ISO
RGD
PMID:21238647
RGD:11567270
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
G
Pcsk5
proprotein convertase subtilisin/kexin type 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18519639
NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600
G
Plod1
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
ISO
ClinVar Annotator: match by term: Umbilical hernia
ClinVar
PMID:25741868
NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
G
Col1a1
collagen type I alpha 1 chain
treatment
IDA
RGD
PMID:26578432
RGD:11041579
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
G
Col3a1
collagen type III alpha 1 chain
treatment
IDA
RGD
PMID:26578432
RGD:11041579
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all