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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Fistula
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Accession:DOID:9007343 term browser 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;   RDO:0002396
For additional species annotation, visit the Alliance of Genome Resources.


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Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKIB1 ankyrin repeat and IBR domain containing 1 IAGP ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chr 7:92,245,974...92,401,383
Ensembl chr 7:92,245,974...92,401,383
JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing IAGP ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,198,969...92,246,166
JBrowse link
G LOC113748416 Sharpr-MPRA regulatory region 5961 IAGP ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chr 7:92,245,795...92,246,089 JBrowse link
Arteriovenous Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme treatment ISO protein:increased activity:heart left ventricle (rat) RGD PMID:22768235, PMID:8386093 RGD:12859285, RGD:12880017 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ACKR1 atypical chemokine receptor 1 (Duffy blood group) ISO RGD PMID:24429330 RGD:9681736 NCBI chr 1:159,204,875...159,206,500
Ensembl chr 1:159,203,307...159,206,500
JBrowse link
G ANGPT2 angiopoietin 2 ISO mRNA:increased expression:lung (rat) RGD PMID:18692629 RGD:2314184 NCBI chr 8:6,499,632...6,563,245
Ensembl chr 8:6,499,632...6,563,409
JBrowse link
G ARRB1 arrestin beta 1 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr11:75,260,122...75,351,662
Ensembl chr11:75,260,122...75,351,705
JBrowse link
G ARRB2 arrestin beta 2 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr17:4,710,619...4,721,500
Ensembl chr17:4,710,596...4,721,499
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO in Long Evans rats;mRNA:increased expression:aorta RGD PMID:16428894 RGD:8552771 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G DES desmin ISO RGD PMID:10591032 RGD:13525010 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735
JBrowse link
G FGF2 fibroblast growth factor 2 IEP RGD PMID:10541235 RGD:8655590 NCBI chr 4:122,826,708...122,898,236
Ensembl chr 4:122,826,708...122,898,236
JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO protein:increased expression:ileal vein RGD PMID:17398390, PMID:23924957 RGD:1642040, RGD:13204800 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:17398390, PMID:23924957 RGD:1642040, RGD:13204800 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:increased expression:vena cava RGD PMID:17344190 RGD:2292146 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO protein:decreased expression:ileal vein RGD PMID:17398390 RGD:1642040 NCBI chr 3:12,153,068...12,158,912
Ensembl chr 3:12,153,068...12,158,912
JBrowse link
G VEGFA vascular endothelial growth factor A ISO
IEP
protein:increased expression:brain cortex, brain dura mater: RGD PMID:24626343, PMID:10541235 RGD:8551823, RGD:8655590 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
Bronchial Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain treatment ISO RGD PMID:24647564 RGD:8661658 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
esophageal atresia/tracheoesophageal fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA2 BRCA2 DNA repair associated IAGP 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:15070707 PMID:15340362 PMID:15382066 PMID:16168118 PMID:16683254 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:25741868 PMID:26295337 PMID:26467025 PMID:27741520 PMID:28008555 PMID:28294317 PMID:28492532 PMID:28724667 PMID:29339979 PMID:29360161 PMID:29446198 PMID:29478780 PMID:29907814 PMID:29909963 PMID:30274973 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 IAGP ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:16116421 PMID:16116423 PMID:16116424 PMID:16153896 PMID:17033622 PMID:19127258 PMID:19763819 PMID:20177395 PMID:20639400 PMID:21165771 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 NCBI chr17:61,679,139...61,864,120
Ensembl chr17:61,679,139...61,863,559
JBrowse link
G GLI2 GLI family zinc finger 2 ISO RGD PMID:12947339 RGD:12801415 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G NOG noggin ISO
ISS
OMIM:189960 MouseDO PMID:17260385 RGD:12801454 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:25003913 RGD:12801416 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
Feingold syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYCN MYCN proto-oncogene, bHLH transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:19852433 PMID:21532573 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
Feingold Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP ClinVar Annotator: match by term: Feingold syndrome 1 ClinVar
OMIM
PMID:15821734 PMID:16906565 PMID:18470948 PMID:18671284 PMID:20301770 PMID:25741868 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
G MYCNOS MYCN opposite strand IAGP ClinVar Annotator: match by term: Feingold syndrome 1 ClinVar PMID:16906565 PMID:18470948 PMID:20301770 PMID:25741868 NCBI chr 2:15,936,265...15,942,433
Ensembl chr 2:15,918,350...15,942,249
JBrowse link
Feingold Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR17HG miR-17-92a-1 cluster host gene IAGP ClinVar Annotator: match by term: Feingold syndrome 2 ClinVar
OMIM
PMID:21892160 PMID:23495052 PMID:25741868 NCBI chr13:91,347,820...91,354,575
Ensembl chr13:91,347,820...91,354,579
JBrowse link
Intestinal Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 ISO mRNA, protein:increased expression:colon (rat) RGD PMID:12654563 RGD:4144044 NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332
JBrowse link
Pancreatic Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin spontaneous IEP associated with Postoperative Complications; RGD PMID:23225108 RGD:11035295 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
Tracheoesophageal Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADD1 adducin 1 IAGP ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 4:2,843,844...2,930,065
Ensembl chr 4:2,843,844...2,930,076
JBrowse link
G AMER3 APC membrane recruitment protein 3 IAGP ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 2:130,754,475...130,768,134
Ensembl chr 2:130,755,540...130,768,134
JBrowse link
G AP1G2 adaptor related protein complex 1 subunit gamma 2 IAGP ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr14:23,559,565...23,567,939
Ensembl chr14:23,559,565...23,568,070
JBrowse link
G AP1G2-AS1 AP1G2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr14:23,561,097...23,568,076
Ensembl chr14:23,561,097...23,568,073
JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr19:1,446,268...1,473,244
Ensembl chr19:1,446,302...1,473,244
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO RGD PMID:16818050 RGD:2289003 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:8673090 PMID:9150172 PMID:9667259 PMID:9792861 PMID:11179017 PMID:11307153 PMID:15070707 PMID:15340362 PMID:15382066 PMID:16168118 PMID:16683254 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:25741868 PMID:26295337 PMID:26467025 PMID:27741520 PMID:28008555 PMID:28294317 PMID:28492532 PMID:28724667 PMID:29339979 PMID:29360161 PMID:29446198 PMID:29478780 PMID:29907814 PMID:29909963 PMID:30274973 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 IAGP ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:16116421 PMID:16116423 PMID:16116424 PMID:16153896 PMID:17033622 PMID:19127258 PMID:19763819 PMID:20177395 PMID:20639400 PMID:21165771 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 NCBI chr17:61,679,139...61,864,120
Ensembl chr17:61,679,139...61,863,559
JBrowse link
G CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 IAGP ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 1:109,249,539...109,275,751
Ensembl chr 1:109,249,539...109,275,751
JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 IAGP ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr17:44,849,948...44,899,445
Ensembl chr17:44,849,948...44,899,445
JBrowse link
G 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 chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase IAGP ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr21:33,503,931...33,542,892
Ensembl chr21:33,503,931...33,543,491
JBrowse link
G GLS glutaminase IAGP ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 2:190,880,821...190,965,552
Ensembl chr 2:190,880,821...190,965,552
JBrowse link
G GTF3C1 general transcription factor IIIC subunit 1 IAGP ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr16:27,460,613...27,549,922
Ensembl chr16:27,459,555...27,549,913
JBrowse link
G IRF8 interferon regulatory factor 8 IAGP ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr16:85,899,162...85,922,609
Ensembl chr16:85,899,162...85,922,606
JBrowse link
G ITSN1 intersectin 1 IAGP ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr21:33,642,452...33,899,861
Ensembl chr21:33,642,400...33,899,861
JBrowse link
G KLHL17 kelch like family member 17 IAGP ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 1:960,103...965,719
Ensembl chr 1:960,584...965,719
JBrowse link
G LURAP1L leucine rich adaptor protein 1 like IAGP ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 9:12,774,994...12,823,060
Ensembl chr 9:12,775,020...12,823,060
JBrowse link
G PCDH1 protocadherin 1 IAGP ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 5:141,850,393...141,878,410
Ensembl chr 5:141,853,090...141,879,246
JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 9:75,890,646...76,362,975
Ensembl chr 9:75,890,644...76,362,975
JBrowse link
G PIK3C2G phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma IAGP ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr12:18,242,946...18,716,861
Ensembl chr12:18,242,961...18,648,416
JBrowse link
G POLR2B RNA polymerase II subunit B IAGP ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 4:56,978,896...57,031,158
Ensembl chr 4:56,977,722...57,031,158
JBrowse link
G PTPN14 protein tyrosine phosphatase non-receptor type 14 IAGP ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 1:214,348,700...214,551,677
Ensembl chr 1:214,348,700...214,552,449
JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,453
JBrowse link
G SMAD6 SMAD family member 6 IAGP ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr15:66,702,110...66,782,849
Ensembl chr15:66,702,236...66,782,849
JBrowse link
G TECPR1 tectonin beta-propeller repeat containing 1 IAGP ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 7:98,214,624...98,252,235
Ensembl chr 7:98,214,624...98,252,232
JBrowse link
G TLR9 toll like receptor 9 IAGP ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
JBrowse link
G WDFY3 WD repeat and FYVE domain containing 3 IAGP ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 4:84,669,597...84,966,690
Ensembl chr 4:84,669,597...84,966,690
JBrowse link
VACTERL association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPLANE2 ciliogenesis and planar polarity effector 2 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 1:16,231,692...16,237,445
Ensembl chr 1:16,231,692...16,237,183
JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
JBrowse link
G FANCL FA complementation group L IAGP ClinVar Annotator: match by term: VATER association ClinVar PMID:19405097 PMID:23613520 PMID:25754594 PMID:28492532 NCBI chr 2:58,159,243...58,241,681
Ensembl chr 2:58,159,243...58,241,372
JBrowse link
G FN1 fibronectin 1 ISO protein:increased expression:embryo RGD PMID:14986037 RGD:7205466 NCBI chr 2:215,360,862...215,436,167
Ensembl chr 2:215,360,440...215,436,073
JBrowse link
G FOXF1 forkhead box F1 IAGP ClinVar Annotator: match by term: VATER association ClinVar PMID:2629409 PMID:26294094 NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422
JBrowse link
G HOXD13 homeobox D13 IAGP
EXP
ClinVar Annotator: match by term: VACTERL association
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19006232 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G IFT172 intraflagellar transport 172 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 2:27,444,373...27,489,819
Ensembl chr 2:27,444,377...27,489,805
JBrowse link
G NOTCH2 notch receptor 2 IAGP ClinVar Annotator: match by term: VATER association ClinVar PMID:25741868 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 ISO
EXP
DNA:mutation:exon:p.C470R(mouse)
CTD Direct Evidence: marker/mechanism
CTD PMID:18519639, PMID:18519639 RGD:11556208 NCBI chr 9:75,890,646...76,362,975
Ensembl chr 9:75,890,644...76,362,975
JBrowse link
G QSOX1 quiescin sulfhydryl oxidase 1 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 1:180,154,869...180,204,030
Ensembl chr 1:180,154,869...180,204,030
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:12632369 RGD:12801426 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G TBC1D32 TBC1 domain family member 32 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 6:121,079,494...121,335,384
Ensembl chr 6:121,079,494...121,334,745
JBrowse link
X-linked VACTERL association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAZ1A bromodomain adjacent to zinc finger domain 1A IAGP ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations ClinVar NCBI chr14:34,752,731...34,875,360
Ensembl chr14:34,752,731...34,875,647
JBrowse link
G FANCB FA complementation group B IAGP
EXP
ClinVar Annotator: match by term: VACTERL-H
ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus
ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:14,690,863...14,873,255
Ensembl chr  X:14,835,961...14,873,069
JBrowse link
G FANCL FA complementation group L IAGP ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked ClinVar PMID:25754594 NCBI chr 2:58,159,243...58,241,681
Ensembl chr 2:58,159,243...58,241,372
JBrowse link
G PTEN phosphatase and tensin homolog EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H
ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly
CTD
ClinVar
PMID:9399897 PMID:9467011 PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10749983 PMID:10848731 PMID:11685670 PMID:11748304 PMID:14518070 PMID:17392703 PMID:17942903 PMID:21828076 PMID:21956414 PMID:22381246 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23695273 PMID:24033266 PMID:24052722 PMID:24778394 PMID:25157968 PMID:25326635 PMID:25669429 PMID:25741868 PMID:25756585 PMID:27477328 PMID:27535533 PMID:27959697 PMID:28492532 PMID:28526761 PMID:30287823 PMID:32238909 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,863,625...87,971,930
JBrowse link
G SALL1 spalt like transcription factor 1 IAGP ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chr16:51,135,982...51,151,270
Ensembl chr16:51,135,975...51,151,367
JBrowse link
G ZIC3 Zic family member 3 IAGP ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked
ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus
ClinVar
OMIM
PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 PMID:24033266 PMID:24123890 PMID:25741868 PMID:26294094 PMID:28492532 PMID:32753700 NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20158
    Pathological Conditions, Signs and Symptoms 11385
      Anatomical Pathological Conditions 1994
        Fistula 68
          Cutaneous Fistula 0
          Digestive System Fistula + 51
          Lachiewicz Sibley Syndrome 0
          Oral Fistula + 0
          Respiratory Tract Fistula + 50
          Urinary Fistula + 0
          Vaginal Fistula + 0
          Vascular Fistula + 16
          Zuska's Disease 0
paths to the root