RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Cftr
CF transmembrane conductance regulator
ISO
DNA:deletion,mutation: :
RGD
PMID:18450781
RGD:4140433
NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
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Erf
Ets2 repressor factor
ISO
ClinVar Annotator: match by term: Chitayat syndrome
OMIM ClinVar
PMID:8418638 PMID:25741868 PMID:27738187
NCBI chr 1:82,112,449...82,120,902
Ensembl chr 1:82,112,449...82,120,902
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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:15070707 PMID:15131399 PMID:15340362 PMID:15382066 PMID:16168118 PMID:16683254 PMID:17148771 PMID:17972171 PMID:18042939 PMID:19471317 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:29478780 PMID:29907814 PMID:29909963
NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
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Brip1
BRCA1 interacting protein C-terminal helicase 1
ISO
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 chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581
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Gli2
GLI family zinc finger 2
IEP
RGD
PMID:12947339
RGD:12801415
NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
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Nog
noggin
ISO ISS
OMIM:189960
MouseDO
PMID:17260385
RGD:12801454
NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
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Shh
sonic hedgehog signaling molecule
IEP
RGD
PMID:25003913
RGD:12801416
NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19852433 PMID:21532573
NCBI chr 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Feingold syndrome 1
ClinVar OMIM
PMID:15821734 PMID:16906565 PMID:18470948 PMID:18671284 PMID:20301770 PMID:25741868
NCBI chr 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379
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Drd1
dopamine receptor D1
IEP
mRNA:decreased expression:medial dorsal nucleus of thalamus (rat)
RGD
PMID:21527662
RGD:7248613
NCBI chr17:11,099,736...11,104,352
Ensembl chr17:11,101,306...11,103,541
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Tgfb1
transforming growth factor, beta 1
susceptibility
ISO
associated with Ventilator-Induced Lung Injury;DNA:polymorphism: :-509C>T (human)
RGD
PMID:20172396
RGD:4145116
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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Add1
adducin 1
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr14:81,367,466...81,426,610
Ensembl chr14:81,367,468...81,426,496
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Amer3
APC membrane recruitment protein 3
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr 9:41,089,417...41,101,108
Ensembl chr 9:41,096,835...41,099,189
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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 chr15:33,759,108...33,767,017
Ensembl chr15:33,759,001...33,766,438
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Apc2
APC regulator of WNT signaling pathway 2
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr 7:12,258,468...12,280,459
Ensembl chr 7:12,258,468...12,275,609
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Bmp4
bone morphogenetic protein 4
IEP
RGD
PMID:16818050
RGD:2289003
NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
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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:15070707 PMID:15131399 PMID:15340362 PMID:15382066 PMID:16168118 PMID:16683254 PMID:17148771 PMID:17972171 PMID:18042939 PMID:19471317 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:29478780 PMID:29907814 PMID:29909963
NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
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Brip1
BRCA1 interacting protein C-terminal helicase 1
ISO
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 chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581
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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 chr 2:211,183,410...211,207,458
Ensembl chr 2:211,183,311...211,207,465
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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 chr10:90,932,071...90,983,971
Ensembl chr10:90,932,075...90,983,928
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Fgfr2
fibroblast growth factor receptor 2
IEP
associated with Esophageal Atresia;mRNA:decreased expression: tracheoesophageal septum, epithelium, mesenchyme (rat)
RGD
PMID:15065023
RGD:12801427
NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
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Gart
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr11:31,780,477...31,805,728
Ensembl chr11:31,780,487...31,805,728
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Gls
glutaminase
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr 9:54,212,622...54,284,879
Ensembl chr 9:54,212,767...54,284,872
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Gtf3c1
general transcription factor IIIC subunit 1
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr 1:197,032,473...197,098,676
Ensembl chr 1:197,032,474...197,098,649
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Irf8
interferon regulatory factor 8
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr19:54,314,859...54,336,643
Ensembl chr19:54,314,865...54,336,640
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Itsn1
intersectin 1
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr11:31,943,119...32,069,249
Ensembl chr11:31,893,489...32,069,249
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Klhl17
kelch-like family member 17
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr 5:173,654,238...173,659,706
Ensembl chr 5:173,654,860...173,659,675
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Lurap1l
leucine rich adaptor protein 1-like
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr 5:98,468,039...98,515,126
Ensembl chr 5:98,469,047...98,515,125
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Pcdh1
protocadherin 1
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr18:31,330,081...31,343,147
Ensembl chr18:31,328,919...31,343,797
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Pcsk5
proprotein convertase subtilisin/kexin type 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18519639
NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858
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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 chr 4:173,732,196...174,102,502
Ensembl chr 4:173,732,248...174,102,496
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Polr2b
RNA polymerase II subunit B
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr14:33,070,104...33,107,792
Ensembl chr14:33,070,078...33,107,776
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Ptpn14
protein tyrosine phosphatase, non-receptor type 14
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr13:108,689,916...108,841,593
Ensembl chr13:108,696,336...108,841,511
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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 chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423
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Smad6
SMAD family member 6
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108
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Tecpr1
tectonin beta-propeller repeat containing 1
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr12:12,374,132...12,403,382
Ensembl chr12:12,374,790...12,402,552
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Tlr9
toll-like receptor 9
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
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Wdfy3
WD repeat and FYVE domain containing 3
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr14:9,169,409...9,384,835
Ensembl chr14:9,141,512...9,381,870
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Cplane2
ciliogenesis and planar polarity effector 2
ISS
OMIM:192350 | OMIM:276950
MouseDO
NCBI chr 5:159,735,008...159,735,956
Ensembl chr 5:159,734,838...159,742,774
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Dync2h1
dynein cytoplasmic 2 heavy chain 1
ISS
OMIM:192350 | OMIM:276950
MouseDO
NCBI chr 8:5,217,054...5,436,969
Ensembl chr 8:5,217,217...5,429,581
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Fancl
FA complementation group L
ISO
ClinVar Annotator: match by term: VATER association
ClinVar
PMID:25754594
NCBI chr14:110,675,306...110,740,880
Ensembl chr14:110,676,090...110,740,317
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Fn1
fibronectin 1
IEP
protein:increased expression:embryo
RGD
PMID:14986037
RGD:7205466
NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
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Foxf1
forkhead box F1
ISO
ClinVar Annotator: match by term: VATER association
ClinVar
PMID:2629409 PMID:26294094
NCBI chr19:53,012,306...53,016,100
Ensembl chr19:53,012,332...53,016,086
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Hoxd13
homeo box D13
ISO
ClinVar Annotator: match by term: VACTERL association CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:19006232
NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
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Ift172
intraflagellar transport 172
ISS
OMIM:192350 | OMIM:276950
MouseDO
NCBI chr 6:26,390,686...26,485,459
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Notch2
notch receptor 2
ISO
ClinVar Annotator: match by term: VATER association
ClinVar
PMID:25741868
NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
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Pcsk5
proprotein convertase subtilisin/kexin type 5
ISO
CTD Direct Evidence: marker/mechanism DNA:mutation:exon:p.C470R(mouse)
CTD
PMID:18519639 , PMID:18519639
RGD:11556208
NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858
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Qsox1
quiescin sulfhydryl oxidase 1
ISS
OMIM:192350 | OMIM:276950
MouseDO
NCBI chr13:73,423,396...73,460,890
Ensembl chr13:73,423,397...73,460,935
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Shh
sonic hedgehog signaling molecule
IEP
RGD
PMID:12632369
RGD:12801426
NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
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Tbc1d32
TBC1 domain family, member 32
ISS
OMIM:192350 | OMIM:276950
MouseDO
NCBI chr20:37,463,879...37,701,268
Ensembl chr20:37,465,278...37,700,937
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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 chr 6:75,793,223...75,873,854
Ensembl chr 6:75,793,960...75,874,235
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Fancb
FA complementation group B
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: VACTERL-H
CTD ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr X:31,124,018...31,140,790
Ensembl chr X:31,124,018...31,140,711
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Fancl
FA complementation group L
ISO
ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked
ClinVar
PMID:25754594
NCBI chr14:110,675,306...110,740,880
Ensembl chr14:110,676,090...110,740,317
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Pten
phosphatase and tensin homolog
ISO
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 chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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Sall1
spalt-like transcription factor 1
ISO
ClinVar Annotator: match by term: VACTERL-H
ClinVar
PMID:25741868
NCBI chr19:23,387,737...23,405,025
Ensembl chr19:23,389,375...23,405,039
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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 OMIM:314390
OMIM ClinVar
PMID:2629409 PMID:14681828 PMID:17764085 PMID:23427188 PMID:24033266 PMID:24123890 PMID:25741868 PMID:26294094 PMID:28492532
NCBI chr X:140,875,191...140,888,344
Ensembl chr X:140,878,216...140,888,795
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