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: heart septal defect
Accession: DOID:1681
browse the term
Definition: Abnormalities in any part of the HEART SEPTUM resulting in abnormal communication between the left and the right chambers of the heart. The abnormal blood flow inside the heart may be caused by defects in the ATRIAL SEPTUM, the VENTRICULAR SEPTUM, or both.
Synonyms: exact_synonym: cardiac septal defects; congenital heart septal defects; congenital septal defect of heart; heart septal defects; septal defect
primary_id: MESH:D006343
xref: ICD10CM:Q21 ; ICD10CM:Q21.9 ; NCI:C84482
For additional species annotation, visit the
Alliance of Genome Resources .
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Bmpr2
bone morphogenetic protein receptor type 2
ISO
RGD
PMID:21070126
RGD:5129230
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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Cited2
Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16287139
NCBI chr 1:12,312,426...12,314,869
Ensembl chr 1:12,312,160...12,314,897
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Creld1
cysteine-rich with EGF-like domains 1
susceptibility
ISO
Atrioventricular septal defect;DNA:missense mutations
RGD
PMID:12632326
RGD:1600967
NCBI chr 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
ISO
DNA:SNP:intron:rs326119(human)
RGD
PMID:22179537
RGD:7244247
NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
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Nkx2-5
NK2 homeobox 5
ISO
RGD
PMID:12112663
RGD:1581130
NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
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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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Pitx2
paired-like homeodomain 2
ISO
RGD
PMID:23361844
RGD:12910561
NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 More...
NCBI chr 1:96,598,663...96,679,495
Ensembl chr 1:96,598,647...96,679,510
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Actc1
actin, alpha, cardiac muscle 1
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:28492532
NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523
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Actl6a
actin-like 6A
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868 PMID:28649782
NCBI chr 2:115,492,374...115,508,401
Ensembl chr 2:115,492,285...115,508,401
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Aldoa
aldolase, fructose-bisphosphate A
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182
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Aldoart2
aldolase 1 A retrogene 2
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709
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Asphd1
aspartate beta-hydroxylase domain containing 1
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:181,552,974...181,556,842
Ensembl chr 1:181,552,884...181,556,090
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Bmp4
bone morphogenetic protein 4
susceptibility
ISO
DNA:SNP: :rs762642(human)
RGD
PMID:25022354
RGD:13442496
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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C1h16orf54
similar to human chromosome 16 open reading frame 54
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:181,702,447...181,705,128
Ensembl chr 1:181,702,503...181,705,835
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C1h16orf92
similar to human chromosome 16 open reading frame 92
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:181,434,524...181,441,000
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Cdipt
CDP-diacylglycerol--inositol 3-phosphatidyltransferase
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:181,583,098...181,587,409
Ensembl chr 1:181,583,141...181,587,408
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Cdiptos
CDIP transferase, opposite strand
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:181,579,391...181,583,017
Ensembl chr 1:181,579,387...181,582,860
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Chd7
chromodomain helicase DNA binding protein 7
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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Col5a2
collagen type V alpha 2 chain
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 9:47,448,736...47,598,396
Ensembl chr 9:47,448,736...47,598,154
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Coro1a
coronin 1A
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Dmd
dystrophin
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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Doc2a
double C2 domain alpha
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:181,457,415...181,462,528
Ensembl chr 1:181,458,390...181,462,030
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Erf
Ets2 repressor factor
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
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Gata4
GATA binding protein 4
ISO
DNA:missense mutation: :p.G21V (human) ClinVar Annotator: match by term: Atrial septal defect
ClinVar RGD
PMID:25741868 PMID:21373748
RGD:7207050
NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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Gdpd3
glycerophosphodiester phosphodiesterase domain containing 3
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063
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Hdac8
histone deacetylase 8
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr X:67,385,288...67,593,014
Ensembl chr X:67,385,289...67,592,923
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Hirip3
HIRA interacting protein 3
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:181,472,056...181,475,082
Ensembl chr 1:181,472,056...181,475,079
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Ino80e
INO80 complex subunit E
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:181,461,406...181,472,059
Ensembl chr 1:181,461,408...181,472,469
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Kctd13
potassium channel tetramerization domain containing 13
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:181,534,534...181,552,843
Ensembl chr 1:181,534,515...181,552,881
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Kif22
kinesin family member 22
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:181,635,347...181,650,351
Ensembl chr 1:181,635,183...181,650,401
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Mapk3
mitogen activated protein kinase 3
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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Maz
MYC associated zinc finger protein
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:181,629,742...181,635,193
Ensembl chr 1:181,629,729...181,650,408
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Mn1
MN1 proto-oncogene, transcriptional regulator
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868 PMID:31834374
NCBI chr12:45,184,060...45,220,102
Ensembl chr12:45,183,085...45,221,651
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Mvp
major vault protein
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380
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Myh6
myosin heavy chain 6
ISO
DNA:missense mutation:p.I820N (human) ClinVar Annotator: match by term: Atrial septal defect CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:15735645 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28750076 PMID:15735645 More...
RGD:1580922
NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
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Myh7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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Mylk
myosin light chain kinase
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:21055718 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29543232
NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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Nkx2-5
NK2 homeobox 5
ISO
DNA:frameshift mutation, missense mutations: :p.P43Gfs*59, p.C46W, p.S179F (human) ClinVar Annotator: match by term: Atrial septal defect DNA:frameshift mutation:exon:p.G206Fs*231 (human)
ClinVar RGD
PMID:18414213 PMID:18976153 PMID:19181906 PMID:19464101 PMID:20981092 PMID:22995991 PMID:24033266 PMID:24376681 PMID:25741868 PMID:28492532 PMID:21188375 PMID:25742962 More...
RGD:12914794 , RGD:12914795
NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
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Pagr1
Paxip1-associated glutamate-rich protein 1
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:181,622,708...181,624,996
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Ppp4c
protein phosphatase 4, catalytic subunit
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:181,392,899...181,399,703
Ensembl chr 1:181,392,923...181,399,659
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Pqbp1
polyglutamine binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16740914
NCBI chr X:14,603,516...14,608,091
Ensembl chr X:14,603,539...14,608,087
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Prrt2
proline-rich transmembrane protein 2
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:181,625,243...181,628,905
Ensembl chr 1:181,604,545...181,628,850
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Qprt
quinolinate phosphoribosyltransferase
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:181,718,189...181,733,486
Ensembl chr 1:181,718,190...181,733,486
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Ryr1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:16835904 PMID:24033266 PMID:25741868
NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
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Setbp1
SET binding protein 1
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
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Sez6l2
seizure related 6 homolog like 2
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:181,557,109...181,577,456
Ensembl chr 1:181,557,109...181,577,456
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Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:28492532
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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Sos1
SOS Ras/Rac guanine nucleotide exchange factor 1
ISO
associated with Noonan Syndrome;DNA:missense mutations:CDS:multiple (human)
RGD
PMID:17143285
RGD:11063543
NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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Spn
sialophorin
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:181,746,937...181,759,564
Ensembl chr 1:181,746,429...181,759,628
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Taok2
TAO kinase 2
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:181,475,708...181,494,738
Ensembl chr 1:181,475,711...181,494,613
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Tbx6
T-box transcription factor 6
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593
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Tlcd3b
TLC domain containing 3B
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:181,421,104...181,439,744
Ensembl chr 1:181,422,830...181,439,743
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Tmem219
transmembrane protein 219
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:181,496,194...181,509,258
Ensembl chr 1:181,496,192...181,534,472
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Ypel3
yippee-like 3
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:181,384,385...181,387,706
Ensembl chr 1:181,384,357...181,387,705
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Zg16
zymogen granule protein 16
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:181,657,722...181,660,079
Ensembl chr 1:181,657,722...181,660,079
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Bmp2
bone morphogenetic protein 2
ISO
ClinVar Annotator: match by term: Atrial septal defect 1
ClinVar
NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
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Ccn1
cellular communication network factor 1
ISS
OMIM:108800
MouseDO
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
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Foxp1
forkhead box P1
ISO
ClinVar Annotator: match by term: Atrial septal defect 1
ClinVar
NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
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Ntf3
neurotrophin 3
ISS
OMIM:108800
MouseDO
NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: ASD II
ClinVar
PMID:11992261 PMID:12325025 PMID:12634870 PMID:12717436 PMID:12960218 PMID:15001945 PMID:15240615 PMID:15604238 PMID:15928039 PMID:15985475 PMID:16263833 PMID:16358218 PMID:17020470 PMID:19020799 PMID:19352411 PMID:21407260 PMID:21533187 PMID:22465605 PMID:22711529 PMID:24033266 PMID:24803665 PMID:24935154 PMID:25533962 PMID:25741868 PMID:26817465 PMID:28492532 PMID:29555671 PMID:29907801 PMID:31560489 PMID:32164556 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Tbx5
T-box transcription factor 5
ISO
ClinVar Annotator: match by term: Atrial septal defect 1
ClinVar
NCBI chr12:36,686,344...36,739,253
Ensembl chr12:36,688,014...36,734,885
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Tgfb2
transforming growth factor, beta 2
ISO
ClinVar Annotator: match by term: Atrial septal defect 1
ClinVar
NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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Tpm1
tropomyosin 1
ISO
ClinVar Annotator: match by term: Atrial septal defect 1
ClinVar
PMID:28359939
NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802
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Gata4
GATA binding protein 4
ISO
ClinVar Annotator: match by term: Atrial septal defect 2
OMIM ClinVar
PMID:12845333 PMID:15810002 PMID:17548362 PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 PMID:19678963 PMID:20347099 PMID:20659440 PMID:20874241 PMID:20981092 PMID:21110066 PMID:21519287 PMID:24033266 PMID:25741868 PMID:26490186 PMID:26997702 PMID:27374936 PMID:27535533 PMID:28132688 PMID:28492532 PMID:32748548 PMID:32992319 More...
NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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Myh6
myosin heavy chain 6
ISO
ClinVar Annotator: match by term: Atrial septal defect 3
OMIM ClinVar
PMID:9536098 PMID:11815426 PMID:15735645 PMID:15998695 PMID:17576681 PMID:20215591 PMID:20656787 PMID:21483645 PMID:21822268 PMID:22011241 PMID:22194935 PMID:23299917 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24082139 PMID:24120998 PMID:24503780 PMID:25163546 PMID:25351510 PMID:25741868 PMID:26085007 PMID:26220970 PMID:26272908 PMID:26458567 PMID:26656175 PMID:27483260 PMID:27532257 PMID:27788187 PMID:27789736 PMID:27930701 PMID:28082330 PMID:28087566 PMID:28166811 PMID:28255936 PMID:28416588 PMID:28492532 PMID:28518168 PMID:28600387 PMID:28750076 PMID:28771489 PMID:28797094 PMID:28798025 PMID:28902392 PMID:28991257 PMID:29247119 PMID:29255176 PMID:29332214 PMID:29368431 PMID:29420653 PMID:29582157 PMID:29687901 PMID:29875424 PMID:29915097 PMID:30293987 PMID:30403391 PMID:30471092 PMID:30716529 PMID:30847666 PMID:30975432 PMID:31376648 PMID:31513939 PMID:31737537 PMID:31983221 PMID:32004434 PMID:32512245 PMID:32746448 PMID:32880476 PMID:33325730 PMID:34088380 PMID:34298581 PMID:35208637 More...
NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
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Tbx20
T-box transcription factor 20
ISO
ClinVar Annotator: match by term: Atrial septal defect 4
OMIM ClinVar
PMID:17668378 PMID:18834961 PMID:19074289 PMID:19762328 PMID:25741868 PMID:27510170 PMID:27642787 PMID:28166811 PMID:28492532 PMID:28553164 PMID:29089047 PMID:29517769 PMID:30820038 More...
NCBI chr 8:23,200,104...23,258,218
Ensembl chr 8:23,204,507...23,258,175
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Actc1
actin, alpha, cardiac muscle 1
ISO
ClinVar Annotator: match by term: Atrial septal defect 5
OMIM ClinVar
PMID:10494087 PMID:10966831 PMID:11052860 PMID:12860912 PMID:14729850 PMID:15058760 PMID:16267253 PMID:16611632 PMID:17611253 PMID:17623677 PMID:17916152 PMID:17947298 PMID:18379140 PMID:18400036 PMID:18506004 PMID:18519860 PMID:18801786 PMID:19184181 PMID:19467449 PMID:19799913 PMID:20497191 PMID:20965760 PMID:21297463 PMID:21524215 PMID:21551322 PMID:21622575 PMID:21839045 PMID:22555271 PMID:22563033 PMID:23054336 PMID:24033266 PMID:24461919 PMID:24736382 PMID:25163546 PMID:25239116 PMID:25741868 PMID:27532257 PMID:27561770 PMID:28138913 PMID:28416588 PMID:28492532 PMID:28790153 PMID:28798025 PMID:29764897 PMID:30371277 PMID:30471092 PMID:30847666 PMID:31430208 PMID:31434612 PMID:32880476 PMID:34088380 PMID:34935411 More...
NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523
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Tll1
tolloid-like 1
ISO
ClinVar Annotator: match by term: Atrial septal defect 6
OMIM ClinVar
PMID:10331975 PMID:18830233 PMID:25741868 PMID:31570783
NCBI chr16:25,509,146...25,710,330
Ensembl chr16:25,509,146...25,709,543
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Nkx2-5
NK2 homeobox 5
ISO
ClinVar Annotator: match by term: Atrial septal defect 7 with or without atrioventricular conduction defects | ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome
OMIM ClinVar
PMID:1260978 PMID:9651244 PMID:10021345 PMID:10587520 PMID:10903346 PMID:10943630 PMID:10948187 PMID:11714651 PMID:12112663 PMID:12414819 PMID:12798584 PMID:14607454 PMID:15161646 PMID:15342699 PMID:15364612 PMID:15689439 PMID:15810002 PMID:15917268 PMID:16418214 PMID:16896344 PMID:17544441 PMID:17891434 PMID:17891520 PMID:18414213 PMID:18976153 PMID:19073351 PMID:19181906 PMID:19464101 PMID:19533775 PMID:19678963 PMID:19933292 PMID:19948535 PMID:20022124 PMID:20456451 PMID:20725931 PMID:20807224 PMID:20981092 PMID:21091212 PMID:21110066 PMID:21561848 PMID:22179962 PMID:22920929 PMID:22995991 PMID:23285148 PMID:23661673 PMID:24033266 PMID:24376681 PMID:24880466 PMID:25028484 PMID:25205790 PMID:25319568 PMID:25741868 PMID:25742962 PMID:26014430 PMID:26334177 PMID:26467025 PMID:26805889 PMID:27152669 PMID:27788187 PMID:27904570 PMID:28455095 PMID:28492532 PMID:28536625 PMID:29037160 PMID:29368431 PMID:30508507 PMID:30611920 PMID:30982828 PMID:31824610 PMID:31983221 PMID:32369864 PMID:32425884 PMID:33835496 More...
NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
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Bmp7
bone morphogenetic protein 7
ISO
ClinVar Annotator: match by term: Atrial septal defect 8
ClinVar
NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788
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Cited2
Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
ISO
ClinVar Annotator: match by term: Atrial septal defect 8
OMIM ClinVar
PMID:16287139 PMID:25741868
NCBI chr 1:12,312,426...12,314,869
Ensembl chr 1:12,312,160...12,314,897
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Gata6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: Atrial septal defect 9
OMIM ClinVar
PMID:20631719 PMID:25741868 PMID:28492532
NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
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Nkx2-5
NK2 homeobox 5
ISO
ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects
ClinVar
PMID:1260978 PMID:9651244 PMID:10021345 PMID:10587520 PMID:10903346 PMID:10943630 PMID:10948187 PMID:11714651 PMID:12112663 PMID:12414819 PMID:12798584 PMID:14607454 PMID:15161646 PMID:15342699 PMID:15364612 PMID:15689439 PMID:15810002 PMID:15917268 PMID:16418214 PMID:16896344 PMID:17544441 PMID:17891434 PMID:17891520 PMID:18414213 PMID:18976153 PMID:19073351 PMID:19181906 PMID:19464101 PMID:19533775 PMID:19678963 PMID:19933292 PMID:19948535 PMID:20022124 PMID:20456451 PMID:20725931 PMID:20807224 PMID:20981092 PMID:21091212 PMID:21110066 PMID:21561848 PMID:22179962 PMID:22920929 PMID:22995991 PMID:23285148 PMID:23661673 PMID:24033266 PMID:24376681 PMID:24880466 PMID:25028484 PMID:25205790 PMID:25319568 PMID:25741868 PMID:25742962 PMID:26014430 PMID:26334177 PMID:26467025 PMID:26805889 PMID:27152669 PMID:27788187 PMID:27904570 PMID:28455095 PMID:28492532 PMID:28536625 PMID:29037160 PMID:29368431 PMID:30508507 PMID:30611920 PMID:30982828 PMID:31824610 PMID:31983221 PMID:32369864 PMID:32425884 PMID:33835496 More...
NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
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Sos1
SOS Ras/Rac guanine nucleotide exchange factor 1
ISO
DNA:missense mutation:CDS:p.E846K (mouse)
RGD
PMID:21041952
RGD:11064696
NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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Bmp4
bone morphogenetic protein 4
ISS
OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474
MouseDO
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Ccn1
cellular communication network factor 1
ISS
OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474
MouseDO
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
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Chd7
chromodomain helicase DNA binding protein 7
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect
ClinVar
PMID:25741868
NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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Dnah11
dynein, axonemal, heavy chain 11
ISS
OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474
MouseDO
NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
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Eln
elastin
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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Foxp1
forkhead box P1
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
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Gata4
GATA binding protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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Gata6
GATA binding protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
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Gja1
gap junction protein, alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Glyr1
glyoxylate reductase 1 homolog
ISS
OMIM:600309 | OMIM:606215 | OMIM:614430 | OMIM:614474
MouseDO
NCBI chr10:10,532,036...10,567,639
Ensembl chr10:10,532,154...10,567,637
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Ift172
intraflagellar transport 172
ISS
OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474
MouseDO
NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
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Mks1
MKS transition zone complex subunit 1
ISS
OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474
MouseDO
NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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Nkx2-5
NK2 homeobox 5
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, somatic
ClinVar
PMID:15342699 PMID:15917268
NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
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Nr1d2
nuclear receptor subfamily 1, group D, member 2
ISS ISO
OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 ClinVar Annotator: match by term: Atrioventricular septal defect
MouseDO ClinVar
PMID:27058611
NCBI chr15:7,524,257...7,550,553
Ensembl chr15:7,524,257...7,550,553
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Shh
sonic hedgehog signaling molecule
ISO
RGD
PMID:19538633
RGD:12801428
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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Smarcal1
Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect
ClinVar
PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 PMID:19127206 PMID:20301550 PMID:21914180 PMID:22998683 PMID:24589093 PMID:25741868 PMID:26499378 PMID:28492532 PMID:28796785 PMID:29127259 More...
NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
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Tbx5
T-box transcription factor 5
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect
ClinVar
PMID:25741868
NCBI chr12:36,686,344...36,739,253
Ensembl chr12:36,688,014...36,734,885
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Arpc4
actin related protein 2/3 complex, subunit 4
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:146,522,255...146,532,784
Ensembl chr 4:146,522,176...146,532,785
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Atp2b2
ATPase plasma membrane Ca2+ transporting 2
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:146,896,332...147,140,665
Ensembl chr 4:146,896,332...147,140,665
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Brk1
BRICK1 subunit of SCAR/WAVE actin nucleating complex
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:25516202 PMID:28492532
NCBI chr 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856
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Brpf1
bromodomain and PHD finger containing, 1
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:146,456,344...146,472,781
Ensembl chr 4:146,456,318...146,472,649
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Camk1
calcium/calmodulin-dependent protein kinase I
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:146,481,196...146,492,039
Ensembl chr 4:146,481,196...146,492,081
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Cav3
caveolin 3
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137
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Cidec
cell death-inducing DFFA-like effector c
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:146,569,288...146,582,173
Ensembl chr 4:146,569,289...146,582,173
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Cpne9
copine family member 9
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:146,429,961...146,454,335
Ensembl chr 4:146,430,792...146,454,333
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Creld1
cysteine-rich with EGF-like domains 1
susceptibility
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 | ClinVar Annotator: match by term: CRELD1-related condition
OMIM ClinVar
PMID:11376440 PMID:12632326 PMID:15857420 PMID:17036335 PMID:23040494 PMID:24697899 PMID:25516202 PMID:25741868 PMID:28166811 PMID:28492532 More...
NCBI chr 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499
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Emc3
ER membrane protein complex subunit 3
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:25516202 PMID:28492532
NCBI chr 4:146,663,065...146,678,976
Ensembl chr 4:146,663,067...146,679,029
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Fancd2
FA complementation group D2
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:25516202 PMID:28492532
NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
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Fancd2os
FANCD2 opposite strand
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:25516202 PMID:28492532
NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
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Ghrl
ghrelin and obestatin prepropeptide
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
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Grm7
glutamate metabotropic receptor 7
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:143,730,862...144,613,230
Ensembl chr 4:143,731,259...144,612,344
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Il17rc
interleukin 17 receptor C
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:146,618,321...146,631,444
Ensembl chr 4:146,619,004...146,631,442
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Il17re
interleukin 17 receptor E
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:146,604,547...146,618,206
Ensembl chr 4:146,605,526...146,618,206
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Irak2
interleukin-1 receptor-associated kinase 2
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:146,786,004...146,842,615
Ensembl chr 4:146,786,100...146,842,602
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Jagn1
jagunal homolog 1
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:146,591,577...146,596,287
Ensembl chr 4:146,591,510...146,596,288
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Lhfpl4
LHFPL tetraspan subfamily member 4
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:146,313,539...146,340,113
Ensembl chr 4:146,313,541...146,340,463
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Lmcd1
LIM and cysteine-rich domains 1
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:145,393,153...145,452,049
Ensembl chr 4:145,393,145...145,452,046
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Mtmr14
myotubularin related protein 14
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:146,386,949...146,429,990
Ensembl chr 4:146,386,956...146,429,990
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Ogg1
8-oxoguanine DNA glycosylase
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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Oxtr
oxytocin receptor
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674
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Prrt3
proline-rich transmembrane protein 3
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:25516202 PMID:28492532
NCBI chr 4:146,641,173...146,650,487
Ensembl chr 4:146,641,173...146,650,317
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Rad18
RAD18 E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:145,735,654...145,821,102
Ensembl chr 4:145,735,654...145,821,069
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Rpusd3
RNA pseudouridine synthase D3
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:146,553,230...146,562,794
Ensembl chr 4:146,558,562...146,562,794
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Sec13
SEC13 homolog, nuclear pore and COPII coat complex component
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:146,877,739...146,891,130
Ensembl chr 4:146,875,524...146,891,173
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Setd5
SET domain containing 5
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894
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Slc6a1
solute carrier family 6 member 1
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:147,448,961...147,482,295
Ensembl chr 4:147,466,965...147,482,293
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Slc6a11
solute carrier family 6 member 11
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:147,297,972...147,413,319
Ensembl chr 4:147,297,969...147,413,443
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Srgap3
SLIT-ROBO Rho GTPase activating protein 3
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:145,839,369...146,070,556
Ensembl chr 4:145,840,078...146,070,575
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Ssuh2
ssu-2 homolog
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:145,502,942...145,521,881
Ensembl chr 4:145,503,185...145,521,735
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Tada3
transcriptional adaptor 3
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:146,510,213...146,521,975
Ensembl chr 4:146,510,246...146,521,590
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Tatdn2
TatD DNase domain containing 2
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:146,845,156...146,865,708
Ensembl chr 4:146,845,156...146,860,897
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Thumpd3
THUMP domain containing 3
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:146,185,422...146,209,802
Ensembl chr 4:146,185,503...146,211,246
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Ttll3
tubulin tyrosine ligase like 3
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 4:146,532,958...146,558,425
Ensembl chr 4:146,533,953...146,557,889
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Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:25516202 PMID:28492532
NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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Gja1
gap junction protein, alpha 1
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect 3
OMIM ClinVar
PMID:11470490 PMID:22090377 PMID:25741868 PMID:28492532 PMID:30653986
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Gata4
GATA binding protein 4
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect 4
OMIM ClinVar
PMID:9536098 PMID:12845333 PMID:12939651 PMID:15235040 PMID:16199547 PMID:17352393 PMID:17576681 PMID:17592645 PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 PMID:19353638 PMID:19678963 PMID:20347099 PMID:20659440 PMID:20854389 PMID:20874241 PMID:20981092 PMID:21110066 PMID:21220346 PMID:21276881 PMID:21519287 PMID:21631294 PMID:21637475 PMID:21834050 PMID:21933911 PMID:22011241 PMID:22318994 PMID:22498567 PMID:22648249 PMID:23239632 PMID:23626780 PMID:23696316 PMID:24033266 PMID:24127225 PMID:24696446 PMID:25205790 PMID:25516202 PMID:25741868 PMID:26014430 PMID:26490186 PMID:26997702 PMID:27374936 PMID:27391137 PMID:27418595 PMID:27426723 PMID:27535533 PMID:27810688 PMID:27899157 PMID:28132688 PMID:28166811 PMID:28471988 PMID:28492532 PMID:28798025 PMID:29368431 PMID:29670578 PMID:29735817 PMID:30455927 PMID:31322791 PMID:31513339 PMID:32748548 PMID:32992319 PMID:33865372 PMID:35063694 More...
NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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Gata6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect 5
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:19666519 PMID:20581743 PMID:20631719 PMID:22158542 PMID:23223019 PMID:24310933 PMID:25706805 PMID:25741868 PMID:27756709 PMID:28492532 PMID:28991257 PMID:31271559 More...
NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
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Adnp2
ADNP homeobox 2
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:73,571,870...73,597,088
Ensembl chr18:73,571,936...73,628,484
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Atp9b
ATPase phospholipid transporting 9B (putative)
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:74,176,863...74,368,993
Ensembl chr18:74,176,863...74,368,953
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Ctdp1
CTD phosphatase subunit 1
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:73,854,277...73,916,232
Ensembl chr18:73,854,282...73,916,457
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Galr1
galanin receptor 1
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:75,772,021...75,787,577
Ensembl chr18:75,772,023...75,787,577
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Hsbp1l1
heat shock factor binding protein 1-like 1
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:73,682,286...73,690,061
Ensembl chr18:73,682,286...73,688,045
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Kcng2
potassium voltage-gated channel modifier subfamily G member 2
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:73,742,224...73,810,420
Ensembl chr18:73,743,074...73,808,723
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Mbp
myelin basic protein
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404
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Nfatc1
nuclear factor of activated T-cells 1
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:74,046,421...74,156,041
Ensembl chr18:74,046,904...74,156,028
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Pard6g
par-6 family cell polarity regulator gamma
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:73,498,119...73,565,048
Ensembl chr18:73,498,021...73,565,029
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Rbfa
ribosome binding factor A
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:73,639,260...73,648,942
Ensembl chr18:73,639,260...73,648,915
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Sall3
spalt-like transcription factor 3
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:74,406,058...74,425,754
Ensembl chr18:74,407,560...74,426,789
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Slc66a2
solute carrier family 66 member 2
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:73,702,472...73,739,678
Ensembl chr18:73,702,564...73,739,676
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Txnl4a
thioredoxin-like 4A
ISO
DNA:missense mutations,deletions:promoter, cds: DNA:deletions:promoter: ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome
OMIM ClinVar RGD
PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 PMID:28492532 PMID:34713892 PMID:25434003 PMID:28905882 More...
RGD:11531484 , RGD:155882456
NCBI chr18:73,659,107...73,674,893
Ensembl chr18:73,659,107...73,674,893
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Zfp236
zinc finger protein 236
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:75,976,478...76,072,428
Ensembl chr18:75,978,231...76,073,737
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Zfp516
zinc finger protein 516
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:76,286,453...76,386,526
Ensembl chr18:76,302,096...76,385,269
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Ephb4
EPH receptor B4
ISO
ClinVar Annotator: match by term: HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT | ClinVar Annotator: match by term: Lymphatic malformation 7
OMIM ClinVar
PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29905864 PMID:30578106 PMID:32267001 PMID:33240318 More...
NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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Mdfic
MyoD family inhibitor domain containing
ISS
OMIM:617300
MouseDO
NCBI chr 4:43,972,310...44,052,162
Ensembl chr 4:43,972,507...44,052,161
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Slc12a9
solute carrier family 12, member 9
ISO
ClinVar Annotator: match by term: Lymphatic malformation 7
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:19,368,990...19,385,881
Ensembl chr12:19,369,004...19,385,877
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Aff4
ALF transcription elongation factor 4
ISO
ClinVar Annotator: match by term: Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25730767 PMID:25741868 PMID:28166811 PMID:28492532 PMID:34782754 More...
NCBI chr10:37,498,825...37,579,751
Ensembl chr10:37,498,825...37,579,751
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Nkx2-5
NK2 homeobox 5
ISO
ClinVar Annotator: match by term: Single ventricle
ClinVar
PMID:19948535 PMID:23285148 PMID:25742962 PMID:28492532 PMID:29037160 PMID:30611920 More...
NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
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Flt4
Fms related receptor tyrosine kinase 4
ISO
ClinVar Annotator: match by term: Congenital heart defects, multiple types, 7
OMIM ClinVar
PMID:23074044 PMID:24033266 PMID:25741868 PMID:28991257 PMID:30232381 PMID:30582441 More...
NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770
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Add1
adducin 1
ISO
DNA:SNP: :p.G460W (human)
RGD
PMID:16100725
RGD:5147996
NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182
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Foxh1
forkhead box H1
ISO
ClinVar Annotator: match by term: Conotruncal defect DNA:misense mutations:cds:multiple
ClinVar RGD
PMID:25741868 PMID:32003456 PMID:32003456
RGD:155791676
NCBI chr 7:108,387,969...108,391,566
Ensembl chr 7:108,387,969...108,390,049
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Gata6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
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Mthfr
methylenetetrahydrofolate reductase
no_association
ISO
DNA:SNPs:cds:c.677C>T,c.1298A>C (human)
RGD
PMID:12705333
RGD:11565174
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Nkx2-5
NK2 homeobox 5
ISO
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis
OMIM ClinVar
PMID:10587520 PMID:10903346 PMID:11714651 PMID:12798584 PMID:14607454 PMID:15161646 PMID:15917268 PMID:16418214 PMID:17544441 PMID:17891434 PMID:18414213 PMID:19073351 PMID:19464101 PMID:19533775 PMID:19933292 PMID:19948535 PMID:20456451 PMID:20807224 PMID:21110066 PMID:24033266 PMID:24376681 PMID:25741868 PMID:26805889 PMID:27152669 PMID:27904570 PMID:28492532 PMID:28536625 PMID:29368431 PMID:30508507 PMID:31824610 PMID:31983221 PMID:32369864 PMID:32425884 More...
NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
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Nkx2-6
NK2 homeobox 6
ISO
ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:24421281 PMID:25741868 PMID:28492532
NCBI chr15:44,443,151...44,447,248
Ensembl chr15:44,443,101...44,447,247
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Tbx1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 PMID:17273972 PMID:17576681 PMID:18375573 PMID:25741868 PMID:28492532 More...
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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Cers1
ceramide synthase 1
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:17924340
NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519
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Cfc1
cripto, FRL-1, cryptic family 1
ISS
OMIM:217095
MouseDO
NCBI chr 9:36,742,106...36,751,931
Ensembl chr 9:36,739,071...36,751,930
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Dll4
delta like canonical Notch ligand 4
susceptibility
ISO
RGD
PMID:34859965
RGD:155663381
NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
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Ece1
endothelin converting enzyme 1
ISS
OMIM:217095
MouseDO
NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
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Gdf1
growth differentiation factor 1
ISO
ClinVar Annotator: match by term: Double outlet right ventricle CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:17924340
NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:25741868
NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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Setd5
SET domain containing 5
ISO
RGD
PMID:34050709
RGD:155794379
NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894
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Yes1
YES proto-oncogene 1, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24478334
NCBI chr 9:113,200,256...113,275,942
Ensembl chr 9:113,200,256...113,299,837
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Zfpm2
zinc finger protein, multitype 2
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 PMID:25741868 PMID:28492532 More...
NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
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Srcap
Snf2-related CREBBP activator protein
ISO
ClinVar Annotator: match by term: Floating-Harbor syndrome | ClinVar Annotator: match by term: Pelletier-Leisti syndrome
OMIM ClinVar
PMID:9536098 PMID:11522779 PMID:11746027 PMID:17576681 PMID:18414213 PMID:20358590 PMID:22265015 PMID:22965468 PMID:23165645 PMID:23193612 PMID:23621943 PMID:23763483 PMID:24970356 PMID:25326637 PMID:25433523 PMID:25741868 PMID:26788936 PMID:28166811 PMID:28492532 PMID:31200758 PMID:33909990 More...
NCBI chr 1:182,123,562...182,172,643
Ensembl chr 1:182,118,416...182,176,610
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Smg9
SMG9 nonsense mediated mRNA decay factor
ISO
ClinVar Annotator: match by term: Heart and brain malformation syndrome
OMIM ClinVar
PMID:25741868 PMID:27018474 PMID:28492532
NCBI chr 1:79,988,540...80,011,262
Ensembl chr 1:79,988,612...80,011,254
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Sall4
spalt-like transcription factor 4
ISO
DNA:deletion, nonsense mutations:exon:c.326delC, p.K175X, p.R617X (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:30067223 PMID:12843316
RGD:11556209
NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
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Tbx5
T-box transcription factor 5
ISO
ClinVar Annotator: match by term: Holt-Oram syndrome CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.G125R (human) DNA:missense mutations, deletion:cds:multiple
OMIM ClinVar CTD RGD
PMID:2070544 PMID:8911604 PMID:8988164 PMID:8988165 PMID:10077612 PMID:10842287 PMID:11183182 PMID:11431700 PMID:11555635 PMID:12499378 PMID:12624158 PMID:12789647 PMID:12818525 PMID:14402857 PMID:15096952 PMID:15355425 PMID:15735645 PMID:16183809 PMID:16917909 PMID:17534187 PMID:18451335 PMID:18706711 PMID:19648116 PMID:20450920 PMID:20519243 PMID:21637475 PMID:21897873 PMID:22333898 PMID:24033266 PMID:24664498 PMID:25216260 PMID:25260786 PMID:25263169 PMID:25623069 PMID:25680289 PMID:25741868 PMID:25931334 PMID:26219450 PMID:26401820 PMID:26490186 PMID:26762269 PMID:26859351 PMID:26938784 PMID:28166811 PMID:28492532 PMID:28855715 PMID:29755943 PMID:30552424 PMID:31215120 PMID:32236096 PMID:34917776 PMID:11572777 PMID:18451335 PMID:20519243 More...
RGD:1578428 , RGD:7327219 , RGD:7327217
NCBI chr12:36,686,344...36,739,253
Ensembl chr12:36,688,014...36,734,885
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Tgfb2
transforming growth factor, beta 2
ISO
ClinVar Annotator: match by term: Holt-Oram syndrome
ClinVar
PMID:24465802 PMID:25741868 PMID:26017485 PMID:28492532 PMID:28633253 PMID:28655553 More...
NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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Foxc1
forkhead box C1
ISO
ClinVar Annotator: match by term: Hypertelorism and tetralogy of fallot
ClinVar
PMID:25741868
NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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Adnp2
ADNP homeobox 2
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:73,571,870...73,597,088
Ensembl chr18:73,571,936...73,628,484
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Atp9b
ATPase phospholipid transporting 9B (putative)
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:74,176,863...74,368,993
Ensembl chr18:74,176,863...74,368,953
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Ctdp1
CTD phosphatase subunit 1
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:73,854,277...73,916,232
Ensembl chr18:73,854,282...73,916,457
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Galr1
galanin receptor 1
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:75,772,021...75,787,577
Ensembl chr18:75,772,023...75,787,577
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Hsbp1l1
heat shock factor binding protein 1-like 1
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:73,682,286...73,690,061
Ensembl chr18:73,682,286...73,688,045
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Kcng2
potassium voltage-gated channel modifier subfamily G member 2
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:73,742,224...73,810,420
Ensembl chr18:73,743,074...73,808,723
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Mbp
myelin basic protein
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404
G
Nfatc1
nuclear factor of activated T-cells 1
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:74,046,421...74,156,041
Ensembl chr18:74,046,904...74,156,028
G
Pard6g
par-6 family cell polarity regulator gamma
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:73,498,119...73,565,048
Ensembl chr18:73,498,021...73,565,029
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Rbfa
ribosome binding factor A
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:73,639,260...73,648,942
Ensembl chr18:73,639,260...73,648,915
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Sall3
spalt-like transcription factor 3
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:74,406,058...74,425,754
Ensembl chr18:74,407,560...74,426,789
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Slc66a2
solute carrier family 66 member 2
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:73,702,472...73,739,678
Ensembl chr18:73,702,564...73,739,676
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Txnl4a
thioredoxin-like 4A
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA | ClinVar Annotator: match by term: Oculootofacial dysplasia
ClinVar
PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 PMID:28492532 PMID:34713892 More...
NCBI chr18:73,659,107...73,674,893
Ensembl chr18:73,659,107...73,674,893
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Zfp236
zinc finger protein 236
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:75,976,478...76,072,428
Ensembl chr18:75,978,231...76,073,737
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Zfp516
zinc finger protein 516
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:76,286,453...76,386,526
Ensembl chr18:76,302,096...76,385,269
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Creld1
cysteine-rich with EGF-like domains 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Atrioventricular septal defect, partial, with heterotaxy syndrome
CTD ClinVar
PMID:12632326 PMID:24697899 PMID:28492532
NCBI chr 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499
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Flna
filamin A
ISO
ClinVar Annotator: match by term: Patent foramen ovale
ClinVar
PMID:25741868
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type
ClinVar
PMID:11992261 PMID:12325025 PMID:12634870 PMID:12717436 PMID:12960218 PMID:15001945 PMID:15240615 PMID:15604238 PMID:15928039 PMID:15985475 PMID:16263833 PMID:16358218 PMID:17020470 PMID:19020799 PMID:19352411 PMID:21407260 PMID:21533187 PMID:22465605 PMID:22711529 PMID:24033266 PMID:24803665 PMID:24935154 PMID:25533962 PMID:25741868 PMID:26817465 PMID:28492532 PMID:29555671 PMID:29907801 PMID:31560489 PMID:32164556 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Rnf213
ring finger protein 213
ISO
ClinVar Annotator: match by term: Patent foramen ovale
ClinVar
PMID:25741868
NCBI chr10:104,656,329...104,755,669
Ensembl chr10:104,656,883...104,757,918
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Tbx5
T-box transcription factor 5
ISO
ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type
ClinVar
PMID:25741868 PMID:29555671
NCBI chr12:36,686,344...36,739,253
Ensembl chr12:36,688,014...36,734,885
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Trpm4
transient receptor potential cation channel, subfamily M, member 4
ISO
ClinVar Annotator: match by term: Patent foramen ovale
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
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Gata6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: Persistent truncus arteriosus
ClinVar
PMID:19666519
NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
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Nkx2-6
NK2 homeobox 6
ISO
ClinVar Annotator: match by term: Persistent truncus arteriosus DNA:missense mutation:CDS:p.F151L (human)
ClinVar RGD
PMID:15649947 PMID:15649947
RGD:155882448
NCBI chr15:44,443,151...44,447,248
Ensembl chr15:44,443,101...44,447,247
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Pbx1
PBX homeobox 1
ISO
RGD
PMID:18723445
RGD:155630610
NCBI chr13:80,278,766...80,588,563
Ensembl chr13:80,278,770...80,588,594
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Sema3c
semaphorin 3C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15548583
NCBI chr 4:17,583,212...17,747,234
Ensembl chr 4:17,583,212...17,746,534
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Recql4
RecQ like helicase 4
ISO
ClinVar Annotator: match by term: Rapadilino syndrome
OMIM ClinVar
PMID:9878247 PMID:10319867 PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:15964893 PMID:16199547 PMID:17250975 PMID:18504617 PMID:18716613 PMID:19291770 PMID:22885111 PMID:23238538 PMID:24033266 PMID:24518840 PMID:24635570 PMID:24728327 PMID:25741868 PMID:25966250 PMID:27247962 PMID:28486640 PMID:28492532 PMID:29478780 PMID:29625052 PMID:32482547 PMID:33077847 PMID:33294214 More...
NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619
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Ccdc22
coiled-coil domain containing 22
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr X:14,898,296...14,910,244
Ensembl chr X:14,898,296...14,910,244
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Washc5
WASH complex subunit 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:90,884,333...90,936,118
Ensembl chr 7:90,884,197...90,936,103
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Ccdc22
coiled-coil domain containing 22
ISO
ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1
ClinVar
PMID:19377476 PMID:21826058 PMID:24916641 PMID:31971710
NCBI chr X:14,898,296...14,910,244
Ensembl chr X:14,898,296...14,910,244
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Dpysl5
dihydropyrimidinase-like 5
ISO
ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1
ClinVar
PMID:3812597 PMID:31474318 PMID:33894126
NCBI chr 6:25,575,104...25,659,422
Ensembl chr 6:25,575,104...25,659,422
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Washc5
WASH complex subunit 5
ISO
ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1
OMIM ClinVar
PMID:7604842 PMID:24065355 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31971710 More...
NCBI chr 7:90,884,333...90,936,118
Ensembl chr 7:90,884,197...90,936,103
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Ccdc22
coiled-coil domain containing 22
ISO
ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 2
OMIM ClinVar
PMID:19377476 PMID:21826058 PMID:23563313 PMID:24916641 PMID:25644381 PMID:25741868 PMID:28492532 PMID:31971710 More...
NCBI chr X:14,898,296...14,910,244
Ensembl chr X:14,898,296...14,910,244
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Vps35l
VPS35 endosomal protein sorting factor like
ISO
ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 3
ClinVar OMIM
PMID:31712251
NCBI chr 1:173,076,105...173,179,663
Ensembl chr 1:173,076,099...173,180,610
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Dpysl5
dihydropyrimidinase-like 5
ISO
ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 4
OMIM ClinVar
PMID:3812597 PMID:31474318 PMID:33894126
NCBI chr 6:25,575,104...25,659,422
Ensembl chr 6:25,575,104...25,659,422
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Atp6ap2
ATPase H+ transporting accessory protein 2
ISO
ClinVar Annotator: match by term: Oculofaciocardiodental syndrome
ClinVar
PMID:28492532
NCBI chr X:10,183,983...10,210,948
Ensembl chr X:10,183,068...10,210,918
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Bcor
BCL6 co-repressor
ISO
DNA:mutations:cds: ClinVar Annotator: match by term: Oculofaciocardiodental syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:15004558 PMID:15770227 PMID:16829040 PMID:17517692 PMID:18414213 PMID:19367324 PMID:23815237 PMID:24728327 PMID:25326637 PMID:25620158 PMID:25741868 PMID:26694549 PMID:28492532 PMID:15004558 More...
RGD:1600504
NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613
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Actn2
actinin alpha 2
ISO
ClinVar Annotator: match by term: Tetralogy of Fallot
ClinVar
PMID:20022194 PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532 PMID:28771489 PMID:32527005 More...
NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622
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Bmp10
bone morphogenetic protein 10
ISS
OMIM:187500
MouseDO
NCBI chr 4:119,872,066...119,877,694
Ensembl chr 4:119,872,045...119,878,627
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Bmp7
bone morphogenetic protein 7
ISO
ClinVar Annotator: match by term: Tetralogy of Fallot
ClinVar
NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788
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Cers1
ceramide synthase 1
ISO
ClinVar Annotator: match by term: Tetralogy of Fallot
ClinVar
PMID:17924340 PMID:28492532
NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519
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Cfc1
cripto, FRL-1, cryptic family 1
ISO
DNA:hypermethylation:promoter:
RGD
PMID:24479926
RGD:155226880
NCBI chr 9:36,742,106...36,751,931
Ensembl chr 9:36,739,071...36,751,930
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Cited2
Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
ISS
OMIM:187500
MouseDO
NCBI chr 1:12,312,426...12,314,869
Ensembl chr 1:12,312,160...12,314,897
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Creld1
cysteine-rich with EGF-like domains 1
ISO
ClinVar Annotator: match by term: Tetralogy of Fallot
ClinVar
PMID:25741868
NCBI chr 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499
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Dnah5
dynein, axonemal, heavy chain 5
ISS
OMIM:187500
MouseDO
NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
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Dock1
dedicator of cyto-kinesis 1
ISS
OMIM:187500
MouseDO
NCBI chr 1:189,467,143...189,983,777
Ensembl chr 1:189,467,143...189,983,768
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Ephb4
EPH receptor B4
ISO
ClinVar Annotator: match by term: Tetralogy of Fallot
ClinVar
PMID:19597493 PMID:27760138
NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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Fgf8
fibroblast growth factor 8
ISS
OMIM:187500
MouseDO
NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359
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Flt4
Fms related receptor tyrosine kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28991257
NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770
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Foxc1
forkhead box C1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25093829
NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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Foxc2
forkhead box C2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25093829
NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
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Foxh1
forkhead box H1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25093829
NCBI chr 7:108,387,969...108,391,566
Ensembl chr 7:108,387,969...108,390,049
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Gata4
GATA binding protein 4
ISO
ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
OMIM ClinVar
PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 PMID:19678963 PMID:20347099 PMID:20874241 PMID:20981092 PMID:21110066 PMID:21519287 PMID:23626780 PMID:24000169 PMID:24033266 PMID:25741868 PMID:26490186 PMID:26997702 PMID:27374936 PMID:27535533 PMID:28471988 PMID:28492532 PMID:29670578 PMID:30152191 PMID:31513339 PMID:32748548 PMID:32992319 More...
NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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Gata5
GATA binding protein 5
ISO
DNA:mutations:cds:c.559C>G,p.R187G, c.620A>G, p.H207R (human)
RGD
PMID:23289003
RGD:155260350
NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751
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Gata6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: Tetralogy of Fallot
OMIM ClinVar
PMID:20581743 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29389947
NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
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Gdf1
growth differentiation factor 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Tetralogy of Fallot
CTD ClinVar
PMID:17924340 PMID:28492532
NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519
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Gja1
gap junction protein, alpha 1
ISO
RGD
PMID:16010294
RGD:1582666
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Gja5
gap junction protein, alpha 5
ISO ISS
DNA:duplications OMIM:187500
MouseDO RGD
PMID:22199024
RGD:7207464
NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952
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Hand2
heart and neural crest derivatives expressed 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25093829
NCBI chr16:32,917,826...32,919,880
Ensembl chr16:32,917,823...32,919,891
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Hey2
hes-related family bHLH transcription factor with YRPW motif 2
ISS
OMIM:187500
MouseDO
NCBI chr 1:26,822,131...26,832,218
Ensembl chr 1:26,822,131...26,832,218
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Invs
inversin
ISS
OMIM:187500
MouseDO
NCBI chr 5:62,610,916...62,763,813
Ensembl chr 5:62,610,968...62,763,350
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Irx4
iroquois homeobox 4
ISO
ClinVar Annotator: match by term: Tetralogy of Fallot
ClinVar
PMID:25741868
NCBI chr 1:30,030,561...30,039,549
Ensembl chr 1:30,030,561...30,039,549
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Jag1
jagged canonical Notch ligand 1
ISO
ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:9585603 PMID:10220506 PMID:11058898 PMID:11139239 PMID:11152664 PMID:11157803 PMID:12297837 PMID:12497640 PMID:12649809 PMID:16575836 PMID:19948535 PMID:20301450 PMID:20437614 PMID:20586101 PMID:21752016 PMID:22040217 PMID:22487239 PMID:23956173 PMID:24033266 PMID:25260786 PMID:25741868 PMID:26760175 PMID:28372585 PMID:28492532 PMID:30074189 PMID:30293987 PMID:32065591 PMID:33433009 PMID:11152664 More...
RGD:1582344
NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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Mks1
MKS transition zone complex subunit 1
ISS
OMIM:187500
MouseDO
NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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Mt-co1
mitochondrially encoded cytochrome c oxidase I
ISO
ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
ClinVar
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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Mt-co2
mitochondrially encoded cytochrome c oxidase II
ISO
ClinVar Annotator: match by term: Tetralogy of Fallot
ClinVar
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
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Mt-co3
mitochondrially encoded cytochrome c oxidase III
ISO
ClinVar Annotator: match by term: Tetralogy of Fallot
ClinVar
NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
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Mthfd1
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
susceptibility
ISO
DNA:SNP:cds:p.R653Q(c.1958G>A)(human)
RGD
PMID:18767138
RGD:12910957
NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:SNP: : rs1801133(human)
RGD
PMID:22868813
RGD:11565105
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Nipbl
NIPBL, cohesin loading factor
ISO
ClinVar Annotator: match by term: Tetralogy of Fallot
ClinVar
PMID:25741868
NCBI chr 2:57,399,443...57,586,770
Ensembl chr 2:57,399,445...57,565,899
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Nkx2-5
NK2 homeobox 5
ISO
DNA:missense mutations:cds:multiple (human) ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
ClinVar OMIM RGD
PMID:10587520 PMID:10903346 PMID:11714651 PMID:12798584 PMID:14607454 PMID:15161646 PMID:15917268 PMID:16418214 PMID:17544441 PMID:17891434 PMID:18414213 PMID:19073351 PMID:19464101 PMID:19533775 PMID:19933292 PMID:19948535 PMID:20456451 PMID:20807224 PMID:21110066 PMID:24033266 PMID:24376681 PMID:25741868 PMID:26805889 PMID:27152669 PMID:27904570 PMID:28492532 PMID:28536625 PMID:29368431 PMID:30508507 PMID:31824610 PMID:31983221 PMID:32369864 PMID:32425884 PMID:11714651 More...
RGD:1581133
NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
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Notch1
notch receptor 1
ISO
ClinVar Annotator: match by term: Tetralogy of Fallot
ClinVar
PMID:19597493 PMID:27760138
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Ntf3
neurotrophin 3
ISS
OMIM:187500
MouseDO
NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596
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Phc1
polyhomeotic homolog 1
ISS
OMIM:187500
MouseDO
NCBI chr 4:155,510,274...155,532,636
Ensembl chr 4:155,510,274...155,533,959
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
susceptibility
ISO
DNA:snp:intron:c.757-4333A>G (rs11066320) (human)
RGD
PMID:22503907
RGD:12743641
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Ret
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Fallot tetralogy
ClinVar
PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 PMID:7906417 PMID:7906866 PMID:7911697 PMID:7977365 PMID:8570194 PMID:8595427 PMID:8782503 PMID:8797874 PMID:8918855 PMID:9242375 PMID:9620546 PMID:9681850 PMID:9839497 PMID:10369718 PMID:10445857 PMID:10679286 PMID:11351254 PMID:15277225 PMID:16715139 PMID:17108110 PMID:17540634 PMID:17895320 PMID:17963006 PMID:18073307 PMID:18209889 PMID:18252215 PMID:18541894 PMID:19041016 PMID:19169500 PMID:19255327 PMID:20065189 PMID:20368568 PMID:20516206 PMID:20847059 PMID:21253810 PMID:21422803 PMID:21455200 PMID:21470995 PMID:21765987 PMID:21810974 PMID:22025146 PMID:22199277 PMID:22233172 PMID:22359510 PMID:22676344 PMID:22992277 PMID:23056499 PMID:23660872 PMID:24336963 PMID:25157968 PMID:25741868 PMID:25810047 PMID:26084817 PMID:26467025 PMID:27539324 PMID:27807060 PMID:28492532 PMID:28873162 PMID:30660595 PMID:31510104 More...
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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Robo1
roundabout guidance receptor 1
ISO
ClinVar Annotator: match by term: Tetralogy of Fallot
ClinVar
PMID:25741868 PMID:28592524
NCBI chr11:10,580,863...11,621,672
Ensembl chr11:10,580,908...11,620,203
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Tbx1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:11748311 PMID:15355425 PMID:18375573 PMID:19948535 PMID:25093829 PMID:25741868 PMID:28492532 More...
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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Tpm1
tropomyosin 1
ISO
ClinVar Annotator: match by term: Tetralogy of Fallot
ClinVar
PMID:28359939
NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802
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Zfpm2
zinc finger protein, multitype 2
ISO
ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
ClinVar OMIM RGD
PMID:14517948 PMID:20807224 PMID:24033266 PMID:24549039 PMID:24702427 PMID:25741868 PMID:28492532 PMID:14517948 More...
RGD:1580641
NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Ventricular septal defect
ClinVar
PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 PMID:18413255 PMID:19206169 PMID:20186801 PMID:24033266 PMID:25463315 PMID:25741868 PMID:28492532 More...
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Cited2
Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:12,312,426...12,314,869
Ensembl chr 1:12,312,160...12,314,897
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Epo
erythropoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19337937
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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Evc
EvC ciliary complex subunit 1
ISO
DNA:SNP::c.1727G>A(human)
RGD
PMID:29257216
RGD:155260289
NCBI chr14:73,456,181...73,498,955
Ensembl chr14:73,456,222...73,498,099
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Fgfr2
fibroblast growth factor receptor 2
ISO
RGD
PMID:16687131
RGD:155663670
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Flna
filamin A
ISO
ClinVar Annotator: match by term: Ventricular septal defect
ClinVar
PMID:28492532
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Foxf1
forkhead box F1
ISO
ClinVar Annotator: match by term: Ventricular septal defect
ClinVar
PMID:25741868
NCBI chr19:49,153,729...49,157,741
Ensembl chr19:49,153,699...49,157,738
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Gata4
GATA binding protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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Gata5
GATA binding protein 5
ISO
DNA:mutation:cds:c.595C>G (p.L199V)(human)
RGD
PMID:22961344
RGD:155260356
NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751
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Gata6
GATA binding protein 6
ISO
DNA:missense mutation:cds:p.G220S (human) DNA:missense mutation:cds:p.D404Y (human)
RGD
PMID:22407241 PMID:23020118
RGD:13208872 , RGD:13208873
NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
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Igf2
insulin-like growth factor 2
treatment
ISO
RGD
PMID:21238444
RGD:13204804
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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Mmp9
matrix metallopeptidase 9
severity
ISO
RGD
PMID:21238444
RGD:13204804
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Ventricular septal defect
ClinVar
PMID:25741868
NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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Nkx2-5
NK2 homeobox 5
ISO
DNA:missense mutation:exon:p.P59A (c.175C>G) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21165553
RGD:12914792
NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
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Nkx2-6
NK2 homeobox 6
susceptibility
ISO
DNA:missense mutation:CDS:p.K152Q (human)
RGD
PMID:25380965
RGD:155882444
NCBI chr15:44,443,151...44,447,248
Ensembl chr15:44,443,101...44,447,247
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Nsd2
nuclear receptor binding SET domain protein 2
ISO
ClinVar Annotator: match by term: Ventricular septal defect
ClinVar
PMID:25741868
NCBI chr14:76,833,194...76,911,304
Ensembl chr14:76,835,637...76,913,641
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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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Ryr1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Ventricular septal defect
ClinVar
PMID:16835904 PMID:24033266 PMID:25741868
NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
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Sall4
spalt-like transcription factor 4
ISO
DNA:missense mutations:cds:p.R196W, p.S797C (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:30067223 PMID:19619907
RGD:11556206
NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
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Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
ClinVar Annotator: match by term: Ventricular septal defect
ClinVar
PMID:25741868
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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Tbx1
T-box transcription factor 1
ISO
DNA:SNP:promoter:g.4199C>T (human)
RGD
PMID:22801995
RGD:155631302
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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Yes1
YES proto-oncogene 1, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24478334
NCBI chr 9:113,200,256...113,275,942
Ensembl chr 9:113,200,256...113,299,837
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Bmp7
bone morphogenetic protein 7
ISO
ClinVar Annotator: match by term: Ventricular septal defect 1
ClinVar
NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788
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Gata4
GATA binding protein 4
ISO
ClinVar Annotator: match by term: Ventricular septal defect 1
OMIM ClinVar
PMID:17643447 PMID:18076106 PMID:18672102 PMID:19302747 PMID:19678963 PMID:20347099 PMID:20874241 PMID:21110066 PMID:21519287 PMID:21631294 PMID:21637914 PMID:22101736 PMID:23626780 PMID:24033266 PMID:25741868 PMID:26490186 PMID:26997702 PMID:27374936 PMID:28471988 PMID:28492532 PMID:29670578 PMID:31513339 PMID:32748548 PMID:32992319 More...
NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
G
Cited2
Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
ISO
ClinVar Annotator: match by term: Ventricular septal defect 2
OMIM ClinVar
PMID:16287139
NCBI chr 1:12,312,426...12,314,869
Ensembl chr 1:12,312,160...12,314,897
G
Nkx2-5
NK2 homeobox 5
ISO
ClinVar Annotator: match by term: Ventricular septal defect 3
OMIM ClinVar
PMID:10587520 PMID:11714651 PMID:12798584 PMID:14607454 PMID:15161646 PMID:15917268 PMID:17544441 PMID:18414213 PMID:19933292 PMID:20659440 PMID:21110066 PMID:21165553 PMID:24033266 PMID:24376681 PMID:25741868 PMID:26805889 PMID:27152669 PMID:27904570 PMID:28492532 PMID:28536625 PMID:29368431 PMID:30508507 PMID:31824610 PMID:31983221 PMID:32369864 PMID:32425884 More...
NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all