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 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Ryr1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Bronchomalacia
ClinVar
PMID:16835904 PMID:24033266 PMID:25741868
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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Erf
Ets2 repressor factor
ISO
ClinVar Annotator: match by term: Chitayat syndrome
OMIM ClinVar
PMID:8418638 PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 PMID:28492532 PMID:28808027 PMID:29758562 PMID:30569521 PMID:30728880 PMID:30758909 PMID:32370745 PMID:32592542 More...
NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
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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:8988179 PMID:9150172 PMID:9536098 PMID:9667259 PMID:9792861 PMID:10638982 PMID:11307153 PMID:11802209 PMID:11897832 PMID:15382066 PMID:16683254 PMID:16905680 PMID:17011978 PMID:17148771 PMID:17576681 PMID:17924331 PMID:18375895 PMID:18821011 PMID:19016756 PMID:19656164 PMID:19863560 PMID:20104584 PMID:20406929 PMID:20694749 PMID:21324516 PMID:21990134 PMID:22217648 PMID:22505045 PMID:22632462 PMID:22798144 PMID:22923021 PMID:23035815 PMID:23199084 PMID:23318356 PMID:23451180 PMID:23621881 PMID:24033266 PMID:24156927 PMID:24249303 PMID:25186627 PMID:25382762 PMID:25480878 PMID:25556971 PMID:25741868 PMID:25884701 PMID:25948282 PMID:26026974 PMID:26295337 PMID:26425718 PMID:26467025 PMID:26786923 PMID:27000661 PMID:27060066 PMID:27271530 PMID:27741520 PMID:28008555 PMID:28477318 PMID:28492532 PMID:28503720 PMID:28715532 PMID:28724667 PMID:28825054 PMID:29084914 PMID:29176636 PMID:29446198 PMID:29625052 PMID:29907814 PMID:30274973 PMID:30287823 PMID:30702160 PMID:30787465 PMID:31143373 PMID:31360904 PMID:31447099 PMID:31825140 PMID:31843900 PMID:32300229 PMID:32338768 PMID:32393398 PMID:32658311 PMID:32772980 PMID:32853339 PMID:32885271 PMID:33471991 PMID:34298626 PMID:35714671 PMID:35949895 PMID:36988593 More...
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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Gli2
GLI family zinc finger 2
IEP
RGD
PMID:12947339
RGD:12801415
NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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Nog
noggin
ISO ISS
OMIM:189960
MouseDO RGD
PMID:17260385
RGD:12801454
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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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 PMID:36135330 PMID:36474027
NCBI chr 2:124,605,445...124,763,964
Ensembl chr 2:124,605,658...124,764,065
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Shh
sonic hedgehog signaling molecule
IEP
RGD
PMID:25003913
RGD:12801416
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brunner Winter syndrome | 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: Microcephaly-oculo-digito-esophageal-duodenal syndrome
CTD ClinVar
PMID:15821734 PMID:16906565 PMID:18470948 PMID:18671284 PMID:19852433 PMID:20301770 PMID:21224895 PMID:21532573 PMID:25741868 PMID:28492532 PMID:30573562 PMID:30655312 PMID:33442900 PMID:36474027 More...
NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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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 chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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Rfx6
regulatory factor X, 6
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 chr20:31,019,784...31,073,266
Ensembl chr20:31,019,829...31,073,147
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Drd1
dopamine receptor D1
IEP
mRNA:decreased expression:medial dorsal nucleus of thalamus (rat)
RGD
PMID:21527662
RGD:7248613
NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002
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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 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Add1
adducin 1
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182
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Amer3
APC membrane recruitment protein 3
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr 9:36,790,355...36,802,341
Ensembl chr 9:36,790,932...36,802,419
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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 chr15:28,571,571...28,579,421
Ensembl chr15:28,571,568...28,589,004
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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 7:9,392,336...9,414,364
Ensembl chr 7:9,392,336...9,414,310
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Bmp4
bone morphogenetic protein 4
IEP
RGD
PMID:16818050
RGD:2289003
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Brca2
BRCA2, DNA repair associated
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:8673090 PMID:8988179 PMID:9150172 PMID:9536098 PMID:9667259 PMID:9792861 PMID:10638982 PMID:11307153 PMID:11802209 PMID:11897832 PMID:15382066 PMID:16683254 PMID:16905680 PMID:17011978 PMID:17148771 PMID:17576681 PMID:17924331 PMID:18375895 PMID:18821011 PMID:19016756 PMID:19656164 PMID:19863560 PMID:20104584 PMID:20406929 PMID:20694749 PMID:21324516 PMID:21990134 PMID:22217648 PMID:22505045 PMID:22632462 PMID:22798144 PMID:22923021 PMID:23035815 PMID:23199084 PMID:23318356 PMID:23451180 PMID:23621881 PMID:24033266 PMID:24156927 PMID:24249303 PMID:25186627 PMID:25382762 PMID:25480878 PMID:25556971 PMID:25741868 PMID:25884701 PMID:25948282 PMID:26026974 PMID:26295337 PMID:26425718 PMID:26467025 PMID:26786923 PMID:27000661 PMID:27060066 PMID:27271530 PMID:27741520 PMID:28008555 PMID:28477318 PMID:28492532 PMID:28503720 PMID:28715532 PMID:28724667 PMID:28825054 PMID:29084914 PMID:29176636 PMID:29446198 PMID:29625052 PMID:29907814 PMID:30274973 PMID:30287823 PMID:30702160 PMID:30787465 PMID:31143373 PMID:31360904 PMID:31447099 PMID:31825140 PMID:31843900 PMID:32300229 PMID:32338768 PMID:32393398 PMID:32658311 PMID:32772980 PMID:32853339 PMID:32885271 PMID:33471991 PMID:34298626 PMID:35714671 PMID:35949895 PMID:36988593 More...
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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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 2:196,029,206...196,053,848
Ensembl chr 2:196,029,434...196,053,845
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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 chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079
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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 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Gart
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125
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Gls
glutaminase
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900
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Gtf3c1
general transcription factor IIIC subunit 1
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr 1:180,203,995...180,270,201
Ensembl chr 1:180,203,995...180,270,201
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Irf8
interferon regulatory factor 8
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829
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Itsn1
intersectin 1
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr11:30,978,590...31,160,645
Ensembl chr11:30,978,590...31,160,645
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Klhl17
kelch-like family member 17
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr 5:166,813,482...166,819,949
Ensembl chr 5:166,814,110...166,818,925
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Lurap1l
leucine rich adaptor protein 1-like
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr 5:95,362,005...95,409,439
Ensembl chr 5:95,362,005...95,409,438
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Pcdh1
protocadherin 1
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr18:30,011,692...30,039,679
Ensembl chr18:30,013,185...30,039,318
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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
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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 4:172,483,752...172,851,623
Ensembl chr 4:172,484,345...172,850,544
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Polr2b
RNA polymerase II subunit B
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr14:30,797,228...30,834,916
Ensembl chr14:30,797,228...30,834,916
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Ptpn14
protein tyrosine phosphatase, non-receptor type 14
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr13:101,268,258...101,420,508
Ensembl chr13:101,268,416...101,414,088
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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 chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
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Sclt1
sodium channel and clathrin linker 1
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:25741868 PMID:28492532 PMID:36135330 PMID:36474027
NCBI chr 2:124,605,445...124,763,964
Ensembl chr 2:124,605,658...124,764,065
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Smad6
SMAD family member 6
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
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Tecpr1
tectonin beta-propeller repeat containing 1
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr12:10,391,587...10,420,462
Ensembl chr12:10,391,696...10,419,611
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Tlr9
toll-like receptor 9
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Wdfy3
WD repeat and FYVE domain containing 3
ISO
ClinVar Annotator: match by term: Tracheoesophageal fistula
ClinVar
PMID:32641753
NCBI chr14:7,578,245...7,810,491
Ensembl chr14:7,606,628...7,810,482
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Cplane2
ciliogenesis and planar polarity effector complex subunit 2
ISS
OMIM:192350 | OMIM:276950
MouseDO
NCBI chr 5:153,515,507...153,516,455
Ensembl chr 5:153,515,376...153,522,508
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Dync2h1
dynein cytoplasmic 2 heavy chain 1
ISS
OMIM:192350 | OMIM:276950
MouseDO
NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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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 chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255
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Fn1
fibronectin 1
IEP
protein:increased expression:embryo
RGD
PMID:14986037
RGD:7205466
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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Foxf1
forkhead box F1
ISO
ClinVar Annotator: match by term: VATER association
ClinVar
PMID:2629409 PMID:26294094
NCBI chr19:49,153,949...49,157,741
Ensembl chr19:49,153,699...49,157,738
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Gli2
GLI family zinc finger 2
ISO
RGD
PMID:11172440
RGD:155791680
NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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Gli3
GLI family zinc finger 3
ISO
RGD
PMID:11172440
RGD:155791680
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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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 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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Ift172
intraflagellar transport 172
ISS
OMIM:192350 | OMIM:276950
MouseDO
NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
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Notch2
notch receptor 2
ISO
ClinVar Annotator: match by term: VATER association
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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Pcsk5
proprotein convertase subtilisin/kexin type 5
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:192350 | OMIM:276950 DNA:mutation:exon:p.C470R(mouse)
CTD MouseDO RGD
PMID:18519639 PMID:18519639
RGD:11556208
NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600
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Qsox1
quiescin sulfhydryl oxidase 1
ISS
OMIM:192350 | OMIM:276950
MouseDO
NCBI chr13:67,949,780...67,987,434
Ensembl chr13:67,949,780...67,987,459
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Shh
sonic hedgehog signaling molecule
IEP
RGD
PMID:12632369
RGD:12801426
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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Tbc1d32
TBC1 domain family, member 32
ISS
OMIM:192350 | OMIM:276950
MouseDO
NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
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Trap1
TNF receptor-associated protein 1
ISO
ClinVar Annotator: match by term: VACTERL association
ClinVar
PMID:25741868
NCBI chr10:11,464,882...11,498,931
Ensembl chr10:11,464,821...11,498,981
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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 6:72,389,701...72,512,516
Ensembl chr 6:72,389,703...72,512,459
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Fancb
FA complementation group B
ISO
CTD Direct Evidence: marker/mechanism 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
CTD ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565
NCBI chr X:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192
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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 chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255
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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:10866302 PMID:11748304 PMID:17526800 PMID:17526801 PMID:17942903 PMID:18986487 PMID:19265751 PMID:20533527 PMID:21828076 PMID:22628360 PMID:23335809 PMID:24778394 PMID:25157968 PMID:25669429 PMID:25741868 PMID:28475857 PMID:28492532 PMID:28526761 PMID:29706350 PMID:29874181 More...
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Sall1
spalt-like transcription factor 1
ISO
ClinVar Annotator: match by term: VACTERL-H
ClinVar
PMID:25741868
NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705
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Zic3
Zic family member 3
ISO
CTD Direct Evidence: marker/mechanism 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 CTD 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 chr X:136,123,662...136,129,627
Ensembl chr X:136,124,026...136,134,746
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all