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: Fistula
Accession: DOID:9007343
browse the term
Definition: Abnormal communication most commonly seen between two internal organs, or between an internal organ and the surface of the body.
Synonyms: exact_synonym: Fistulas
primary_id: MESH:D005402
GViewer not supported for the selected species.
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Ankib1
ankyrin repeat and IBR domain containing 1
ISO
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas
ClinVar
PMID:25741868
NCBI chrNW_004936803:1,393,918...1,423,086
Ensembl chrNW_004936803:1,393,954...1,423,068
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Krit1
KRIT1 ankyrin repeat containing
ISO
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas
ClinVar
PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chrNW_004936621:2,088,606...2,128,579
Ensembl chrNW_004936621:2,088,802...2,128,657
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Ackr1
atypical chemokine receptor 1 (Duffy blood group)
ISO
RGD
PMID:24429330
RGD:9681736
NCBI chrNW_004936740:1,295,299...1,298,441
Ensembl chrNW_004936740:1,295,319...1,296,812
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Angpt2
angiopoietin 2
ISO
mRNA:increased expression:lung (rat)
RGD
PMID:18692629
RGD:2314184
NCBI chrNW_004936615:4,472,261...4,524,537
Ensembl chrNW_004936615:4,472,247...4,524,556
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Arrb1
arrestin beta 1
ISO
mRNA, protein:altered expression:left ventricle (rat)
RGD
PMID:22015551
RGD:5509867
NCBI chrNW_004936498:4,089,621...4,172,749
Ensembl chrNW_004936498:4,094,893...4,172,755
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Arrb2
arrestin beta 2
ISO
mRNA, protein:altered expression:left ventricle (rat)
RGD
PMID:22015551
RGD:5509867
NCBI chrNW_004936677:3,173,054...3,181,475
Ensembl chrNW_004936677:3,172,925...3,181,520
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Col1a1
collagen type I alpha 1 chain
ISO
in Long Evans rats;mRNA:increased expression:aorta
RGD
PMID:16428894
RGD:8552771
NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444
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Des
desmin
ISO
RGD
PMID:10591032
RGD:13525010
NCBI chrNW_004936569:1,807,902...1,814,936
Ensembl chrNW_004936569:1,807,805...1,815,562
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LOC101968921
angiotensin-converting enzyme
treatment
ISO
protein:increased activity:heart left ventricle (rat)
RGD
PMID:8386093 PMID:22768235
RGD:12859285 RGD:12880017
NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177
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Mmp2
matrix metallopeptidase 2
treatment
ISO
protein:increased expression:ileal vein
RGD
PMID:17398390 PMID:23924957
RGD:13204800 RGD:1642040
NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851
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Mmp9
matrix metallopeptidase 9
treatment
ISO
RGD
PMID:17398390 PMID:23924957
RGD:13204800 RGD:1642040
NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793
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Nos3
nitric oxide synthase 3
ISO
protein:increased expression:vena cava
RGD
PMID:17344190
RGD:2292146
NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534
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Rbp4
retinol binding protein 4
exacerbates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:33556944
RGD:329845868
NCBI chrNW_004936601:1,401,215...1,410,195
Ensembl chrNW_004936601:1,402,691...1,410,208
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Timp4
TIMP metallopeptidase inhibitor 4
ISO
protein:decreased expression:ileal vein
RGD
PMID:17398390
RGD:1642040
NCBI chrNW_004936602:1,488,993...1,496,108
Ensembl chrNW_004936602:1,489,545...1,495,478
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:brain cortex, brain dura mater:
RGD
PMID:10541235 PMID:24626343
RGD:8551823 RGD:8655590
NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673
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Col2a1
collagen type II alpha 1 chain
treatment
ISO
RGD
PMID:24647564
RGD:8661658
NCBI chrNW_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853
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Brca2
BRCA2 DNA repair associated
ISO
ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula
ClinVar
PMID:8673090 PMID:9150172 PMID:9667259 PMID:9792861 PMID:11179017 PMID:11307153 PMID:11597388 PMID:15070707 PMID:15340362 PMID:15382066 PMID:16168118 PMID:16683254 PMID:16905680 PMID:17148771 PMID:17972171 PMID:18042939 PMID:19863560 PMID:20104584 PMID:20694749 PMID:20736950 PMID:21120943 PMID:21324516 PMID:23199084 PMID:23318356 PMID:23621881 PMID:24033266 PMID:24055113 PMID:24156927 PMID:25525159 PMID:25637381 PMID:25682074 PMID:25741868 PMID:25884701 PMID:25927356 PMID:26219728 PMID:26295337 PMID:26425718 PMID:26467025 PMID:26687385 PMID:26786923 PMID:27741520 PMID:28008555 PMID:28294317 PMID:28423363 PMID:28492532 PMID:28503720 PMID:28715532 PMID:28724667 PMID:28831036 PMID:29161300 PMID:29339979 PMID:29360161 PMID:29446198 PMID:29478780 PMID:29625052 PMID:29907814 PMID:29909963 PMID:30274973 PMID:30287823 PMID:30702160 PMID:30720243 PMID:30787465 PMID:31174498 PMID:31360904 PMID:31447099 PMID:31825140 PMID:31837001 PMID:31957001 PMID:32029870 PMID:32101877 PMID:32190957 PMID:32300229 PMID:32318955 PMID:32338768 PMID:32467295 PMID:32521533 PMID:32581362 PMID:32772980 PMID:32885271 PMID:33087929 PMID:33461583 PMID:33471991 PMID:34399810 More...
NCBI chrNW_004936472:26,945,659...27,017,693
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Brip1
BRCA1 interacting helicase 1
ISO
ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula
ClinVar
PMID:2455662 PMID:3375802 PMID:16116421 PMID:16116423 PMID:16116424 PMID:16153896 PMID:17033622 PMID:18978354 PMID:19127258 PMID:19763819 PMID:20639400 PMID:21345144 PMID:21964575 PMID:22006311 PMID:24240112 PMID:24556621 PMID:25741868 PMID:25980754 PMID:26315354 PMID:26467025 PMID:26681312 PMID:26822949 PMID:26845104 PMID:26921362 PMID:26968956 PMID:27179029 PMID:28492532 PMID:29368626 PMID:32068069 PMID:32359370 PMID:32885271 PMID:33471991 PMID:34026625 PMID:34585738 PMID:36988593 More...
NCBI chrNW_004936490:3,001,445...3,139,538
Ensembl chrNW_004936490:3,003,484...3,137,479
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Gli2
GLI family zinc finger 2
ISO
RGD
PMID:12947339
RGD:12801415
NCBI chrNW_004936469:49,616,552...49,788,760
Ensembl chrNW_004936469:49,617,095...49,673,213
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Nog
noggin
ISO
OMIM:189960
RGD MouseDO
PMID:17260385
RGD:12801454
NCBI chrNW_004936490:6,262,651...6,264,069
Ensembl chrNW_004936490:6,262,785...6,263,483
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Sclt1
sodium channel and clathrin linker 1
ISO
ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004936642:1,984,936...2,146,707
Ensembl chrNW_004936642:1,984,529...2,146,949
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Shh
sonic hedgehog signaling molecule
ISO
RGD
PMID:25003913
RGD:12801416
NCBI chrNW_004936527:10,033,095...10,042,713
Ensembl chrNW_004936527:10,033,299...10,042,599
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum | ClinVar Annotator: match by term: MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE | ClinVar Annotator: match by term: MMT syndrome | ClinVar Annotator: match by term: Microcephaly-oculo-digito-esophageal-duodenal syndrome
ClinVar
PMID:15821734 PMID:16906565 PMID:18470948 PMID:18671284 PMID:20301770 PMID:21224895 PMID:25741868 PMID:28492532 PMID:30573562 PMID:30655312 PMID:33442900 More...
NCBI chrNW_004936493:14,618,176...14,624,201
Ensembl chrNW_004936493:14,618,060...14,624,315
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: MYCN-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30573562 PMID:37710961
NCBI chrNW_004936493:14,618,176...14,624,201
Ensembl chrNW_004936493:14,618,060...14,624,315
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Rfx6
regulatory factor X6
ISO
ClinVar Annotator: match by term: DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA
ClinVar
PMID:15592663 PMID:18414213 PMID:18512226 PMID:19887127 PMID:20148032 PMID:25741868 PMID:26264437 PMID:26559129 PMID:27523286 PMID:28492532 PMID:29026101 More...
NCBI chrNW_004936658:94,589...145,135
Ensembl chrNW_004936658:94,589...145,135
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Add1
adducin 1
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004936477:20,695,109...20,766,053
Ensembl chrNW_004936477:20,691,951...20,766,152
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Amer3
APC membrane recruitment protein 3
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004936469:41,234,187...41,244,603
Ensembl chrNW_004936469:41,238,646...41,244,623
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Ap1g2
adaptor related protein complex 1 subunit gamma 2
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004936722:851,182...859,238
Ensembl chrNW_004936722:851,917...859,052
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Apc2
APC regulator of WNT signaling pathway 2
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004936588:767,115...787,321
Ensembl chrNW_004936588:767,066...786,951
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Bmp4
bone morphogenetic protein 4
ISO
RGD
PMID:16818050
RGD:2289003
NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468
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Brca2
BRCA2 DNA repair associated
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:8673090 PMID:9150172 PMID:9667259 PMID:9792861 PMID:11179017 PMID:11307153 PMID:11597388 PMID:15070707 PMID:15340362 PMID:15382066 PMID:16168118 PMID:16683254 PMID:16905680 PMID:17148771 PMID:17972171 PMID:18042939 PMID:19863560 PMID:20104584 PMID:20694749 PMID:20736950 PMID:21120943 PMID:21324516 PMID:23199084 PMID:23318356 PMID:23621881 PMID:24033266 PMID:24055113 PMID:24156927 PMID:25525159 PMID:25637381 PMID:25682074 PMID:25741868 PMID:25884701 PMID:25927356 PMID:26219728 PMID:26295337 PMID:26425718 PMID:26467025 PMID:26687385 PMID:26786923 PMID:27741520 PMID:28008555 PMID:28294317 PMID:28423363 PMID:28492532 PMID:28503720 PMID:28715532 PMID:28724667 PMID:28831036 PMID:29161300 PMID:29339979 PMID:29360161 PMID:29446198 PMID:29478780 PMID:29625052 PMID:29907814 PMID:29909963 PMID:30274973 PMID:30287823 PMID:30702160 PMID:30720243 PMID:30787465 PMID:31174498 PMID:31360904 PMID:31447099 PMID:31825140 PMID:31837001 PMID:31957001 PMID:32029870 PMID:32101877 PMID:32190957 PMID:32300229 PMID:32318955 PMID:32338768 PMID:32467295 PMID:32521533 PMID:32581362 PMID:32772980 PMID:32885271 PMID:33087929 PMID:33461583 PMID:33471991 PMID:34399810 More...
NCBI chrNW_004936472:26,945,659...27,017,693
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Brip1
BRCA1 interacting helicase 1
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:2455662 PMID:3375802 PMID:16116421 PMID:16116423 PMID:16116424 PMID:16153896 PMID:17033622 PMID:18978354 PMID:19127258 PMID:19763819 PMID:20639400 PMID:21345144 PMID:21964575 PMID:22006311 PMID:24240112 PMID:24556621 PMID:25741868 PMID:25980754 PMID:26315354 PMID:26467025 PMID:26681312 PMID:26822949 PMID:26845104 PMID:26921362 PMID:26968956 PMID:27179029 PMID:28492532 PMID:29368626 PMID:32068069 PMID:32359370 PMID:32885271 PMID:33471991 PMID:34026625 PMID:34585738 PMID:36988593 More...
NCBI chrNW_004936490:3,001,445...3,139,538
Ensembl chrNW_004936490:3,003,484...3,137,479
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Celsr2
cadherin EGF LAG seven-pass G-type receptor 2
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004936704:779,528...803,860
Ensembl chrNW_004936704:778,480...803,886
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Eftud2
elongation factor Tu GTP binding domain containing 2
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004936541:1,216,584...1,259,355
Ensembl chrNW_004936541:1,217,138...1,257,935
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Fgfr2
fibroblast growth factor receptor 2
ISO
associated with Esophageal Atresia;mRNA:decreased expression: tracheoesophageal septum, epithelium, mesenchyme (rat)
RGD
PMID:15065023
RGD:12801427
NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019
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Gart
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004936500:8,750,928...8,782,303
Ensembl chrNW_004936500:8,753,463...8,786,236
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Gls
glutaminase
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004936506:7,237,099...7,314,011
Ensembl chrNW_004936506:7,237,099...7,313,976
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Gtf3c1
general transcription factor IIIC subunit 1
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004936501:11,125,126...11,189,400
Ensembl chrNW_004936501:11,124,243...11,189,562
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Irf8
interferon regulatory factor 8
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004936641:2,608,109...2,622,446
Ensembl chrNW_004936641:2,608,100...2,622,409
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Itsn1
intersectin 1
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004936500:8,490,514...8,678,127
Ensembl chrNW_004936500:8,468,940...8,612,942
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Klhl17
kelch like family member 17
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004936737:2,080,699...2,086,252
Ensembl chrNW_004936737:2,079,582...2,086,152
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LOC101974150
WD repeat and FYVE domain-containing protein 3
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004936738:31,426...150,463
Ensembl chrNW_004936738:1,841...147,264
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Lurap1l
leucine rich adaptor protein 1 like
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004936539:6,620,747...6,668,544
Ensembl chrNW_004936539:6,619,922...6,668,214
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Pcdh1
protocadherin 1
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004936504:12,293,889...12,320,598
Ensembl chrNW_004936504:12,296,324...12,320,611
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Pcsk5
proprotein convertase subtilisin/kexin type 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18519639
NCBI chrNW_004936503:11,466,955...11,896,887
Ensembl chrNW_004936503:11,466,950...11,896,887
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Pik3c2g
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004936548:7,604,272...7,923,984
Ensembl chrNW_004936548:7,604,404...7,856,872
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Polr2b
RNA polymerase II subunit B
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004936482:19,073,125...19,119,424
Ensembl chrNW_004936482:19,073,124...19,119,421
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Ptpn14
protein tyrosine phosphatase non-receptor type 14
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004936628:3,739,223...3,916,157
Ensembl chrNW_004936628:3,739,152...3,907,662
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Rab3gap2
RAB3 GTPase activating non-catalytic protein subunit 2
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004936650:1,944,291...2,054,847
Ensembl chrNW_004936650:1,944,346...2,056,665
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Sclt1
sodium channel and clathrin linker 1
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004936642:1,984,936...2,146,707
Ensembl chrNW_004936642:1,984,529...2,146,949
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Smad6
SMAD family member 6
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004936471:26,781,420...26,856,556
Ensembl chrNW_004936471:26,781,549...26,856,571
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Tecpr1
tectonin beta-propeller repeat containing 1
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chrNW_004936750:756,602...781,422
Ensembl chrNW_004936750:756,072...781,549
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Cplane2
ciliogenesis and planar polarity effector complex subunit 2
ISO
OMIM:192350 | OMIM:276950
MouseDO
NCBI chrNW_004936474:3,725,871...3,730,634
Ensembl chrNW_004936474:3,725,865...3,730,677
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Dync2h1
dynein cytoplasmic 2 heavy chain 1
ISO
OMIM:192350 | OMIM:276950
MouseDO
NCBI chrNW_004936551:4,584,438...4,913,829
Ensembl chrNW_004936551:4,584,438...4,913,825
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Fancl
FA complementation group L
ISO
ClinVar Annotator: match by term: VATER association
ClinVar
PMID:19405097 PMID:23613520 PMID:25754594 PMID:28492532
NCBI chrNW_004936491:4,057,312...4,119,966
Ensembl chrNW_004936491:4,029,388...4,119,976
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Fn1
fibronectin 1
ISO
protein:increased expression:embryo
RGD
PMID:14986037
RGD:7205466
NCBI chrNW_004936586:1,708,803...1,773,372
Ensembl chrNW_004936586:1,708,684...1,773,383
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Foxf1
forkhead box F1
ISO
ClinVar Annotator: match by term: VATER association
ClinVar
PMID:2629409 PMID:26294094
NCBI chrNW_004943883:4...1,756
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Gli2
GLI family zinc finger 2
ISO
RGD
PMID:11172440
RGD:155791680
NCBI chrNW_004936469:49,616,552...49,788,760
Ensembl chrNW_004936469:49,617,095...49,673,213
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Gli3
GLI family zinc finger 3
ISO
RGD
PMID:11172440
RGD:155791680
NCBI chrNW_004936478:17,129,922...17,403,630
Ensembl chrNW_004936478:17,126,911...17,403,011
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Hoxd13
homeobox D13
ISO
ClinVar Annotator: match by term: VACTERL association
ClinVar
PMID:19006232
NCBI chrNW_004936509:5,579,846...5,581,651
Ensembl chrNW_004936509:5,579,843...5,581,651
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Ift172
intraflagellar transport 172
ISO
OMIM:192350 | OMIM:276950
MouseDO
NCBI chrNW_004936493:5,108,437...5,145,160
Ensembl chrNW_004936493:5,108,437...5,145,160
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LOC101965998
notch receptor 2
ISO
ClinVar Annotator: match by term: VATER association
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004936872:454,273...539,544
Ensembl chrNW_004936872:390,852...536,321
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Pcsk5
proprotein convertase subtilisin/kexin type 5
ISO
DNA:mutation:exon:p.C470R(mouse) OMIM:192350 | OMIM:276950 CTD Direct Evidence: marker/mechanism
RGD MouseDO CTD
PMID:18519639
RGD:11556208
NCBI chrNW_004936503:11,466,955...11,896,887
Ensembl chrNW_004936503:11,466,950...11,896,887
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Qsox1
quiescin sulfhydryl oxidase 1
ISO
OMIM:192350 | OMIM:276950
MouseDO
NCBI chrNW_004936481:8,975,818...9,013,684
Ensembl chrNW_004936481:8,975,790...9,013,723
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Shh
sonic hedgehog signaling molecule
ISO
RGD
PMID:12632369
RGD:12801426
NCBI chrNW_004936527:10,033,095...10,042,713
Ensembl chrNW_004936527:10,033,299...10,042,599
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Tbc1d32
TBC1 domain family member 32
ISO
OMIM:192350 | OMIM:276950
MouseDO
NCBI chrNW_004936658:3,632,314...3,814,134
Ensembl chrNW_004936658:3,632,536...3,812,805
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Trap1
TNF receptor associated protein 1
ISO
ClinVar Annotator: match by term: VACTERL association
ClinVar
PMID:25741868
NCBI chrNW_004936694:667,687...704,994
Ensembl chrNW_004936694:667,691...704,994
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Baz1a
bromodomain adjacent to zinc finger domain 1A
ISO
ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations
ClinVar
NCBI chrNW_004936494:8,968,704...9,080,620
Ensembl chrNW_004936494:8,968,704...9,080,620
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Fancb
FA complementation group B
ISO
ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: VACTERL-H, X-LINKED | ClinVar Annotator: match by term: X-linked VACTERL-H syndrome
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565
NCBI chrNW_004936470:4,305,220...4,323,456
Ensembl chrNW_004936470:4,305,740...4,323,374
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Fancl
FA complementation group L
ISO
ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus
ClinVar
PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 PMID:29625052 More...
NCBI chrNW_004936491:4,057,312...4,119,966
Ensembl chrNW_004936491:4,029,388...4,119,976
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Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly
ClinVar
PMID:10866302 PMID:11748304 PMID:17526800 PMID:17526801 PMID:17942903 PMID:21828076 PMID:22628360 PMID:24778394 PMID:25157968 PMID:25669429 PMID:25741868 PMID:28475857 PMID:28492532 PMID:28526761 PMID:29706350 PMID:29874181 More...
NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323
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Sall1
spalt like transcription factor 1
ISO
ClinVar Annotator: match by term: VACTERL-H
ClinVar
PMID:25741868
NCBI chrNW_004936475:4,106,663...4,121,356
Ensembl chrNW_004936475:4,106,084...4,121,413
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Zic3
Zic family member 3
ISO
ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus
OMIM ClinVar
PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 PMID:24033266 PMID:24123890 PMID:25741868 PMID:26294094 PMID:28492532 PMID:32753700 More...
NCBI chrNW_004936513:9,780,895...9,792,865
Ensembl chrNW_004936513:9,786,709...9,793,077
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all