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:Q21.9 ; MONDO:0002078 ; 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 9:68,685,942...68,801,353
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 1:14,132,303...14,134,746
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 1:36,695,376...36,727,341
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 chr10:16,844,888...16,851,458
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 1:224,263,823...224,694,350
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 2:220,391,417...220,411,588
Ensembl chr 2:217,717,693...217,737,293
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Tbx2
T-box transcription factor 2
susceptibility
ISO
DNA:SNP:3'UTR:rs59382073(human) DNA:SNP:promoter:rs4455026(c.‐1028G>C)(human)
RGD
PMID:30262811 PMID:30525309
RGD:401794414 , RGD:401794416
NCBI chr10:71,177,082...71,186,275
Ensembl chr10:70,679,518...70,688,529
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Tll1
tolloid-like 1
ISO
RGD
PMID:10331975
RGD:155882595
NCBI chr16:25,509,146...25,710,330
Ensembl chr16:25,509,146...25,709,543
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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 PMID:33565752 PMID:36208030 More...
NCBI chr 1:105,734,992...105,816,272
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 3:121,266,291...121,271,827
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:19215055 PMID:25741868 PMID:28649782 PMID:31994175
NCBI chr 2:115,492,374...115,508,401
Ensembl chr 2:115,492,285...115,508,401
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Bmp4
bone morphogenetic protein 4
susceptibility
ISO
DNA:SNP: :rs762642(human)
RGD
PMID:25022354
RGD:13442496
NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306
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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 5:26,609,245...26,792,736
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 9:54,940,768...55,090,151
Ensembl chr 9:47,448,736...47,598,154
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868 PMID:28492532 PMID:29460469 PMID:30755392
NCBI chr10:11,842,307...11,968,266
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:51,070,098...53,437,845
Ensembl chr X:47,272,331...49,504,207
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Erf
Ets2 repressor factor
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr 1:89,957,760...89,966,213
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 DNA:mutation:cds:p.G115W (human)
ClinVar RGD
PMID:25741868 PMID:28492532 PMID:30755392 PMID:21373748 PMID:27418595
RGD:7207050 , RGD:155883161
NCBI chr15:41,635,572...41,707,252
Ensembl chr15:37,459,601...37,505,636
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Hdac8
histone deacetylase 8
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868
NCBI chr X:71,425,240...71,632,865
Ensembl chr X:67,385,289...67,592,923
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Isl1
ISL LIM homeobox 1
susceptibility
ISO
DNA:SNP: :rs1017(human)
RGD
PMID:24634231
RGD:243049248
NCBI chr 2:49,813,618...49,823,442
Ensembl chr 2:48,080,522...48,095,584
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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 chr12:45,181,794...45,220,959
Ensembl chr12:45,183,085...45,221,651
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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:28416588 PMID:28492532 PMID:28750076 PMID:15735645 More...
RGD:1580922
NCBI chr15:32,388,102...32,413,663
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
PMID:25741868
NCBI chr15:32,416,525...32,439,851
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 PMID:29544503 PMID:29961567 More...
NCBI chr11:79,288,243...79,535,450
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 chr10:16,844,888...16,851,458
Ensembl chr10:16,344,159...16,346,934
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Pqbp1
polyglutamine binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16740914
NCBI chr X:17,275,445...17,280,018
Ensembl chr X:14,603,539...14,608,087
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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 1:93,420,078...93,551,305
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 chr18:74,465,616...74,827,455
Ensembl chr18:72,191,035...72,552,556
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Smarca4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
ISO
ClinVar Annotator: match by term: Atrial septal defect
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:28,438,370...28,535,071
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 6:20,286,117...20,363,350
Ensembl chr 6:14,533,360...14,611,107
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Tbx2
T-box transcription factor 2
ISO
DNA:SNP:promoter:rs4455026(c.‐1028G>C)(human)
RGD
PMID:30525309
RGD:401794416
NCBI chr10:71,177,082...71,186,275
Ensembl chr10:70,679,518...70,688,529
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Tbx20
T-box transcription factor 20
susceptibility
ISO
DNA:SNPs, haplotype: (rs17675131, rs4720169) (human)
RGD
PMID:26675025
RGD:155882600
NCBI chr 8:31,475,963...31,534,051
Ensembl chr 8:23,204,507...23,258,175
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Zfpm2
zinc finger protein, multitype 2
ISO
RGD
PMID:25196150
RGD:155882481
NCBI chr 7:73,563,732...74,001,041
Ensembl chr 7:71,678,880...72,116,205
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Bmp2
bone morphogenetic protein 2
ISO
ClinVar Annotator: match by term: Atrial septal defect 1
ClinVar
NCBI chr 3:141,264,648...141,275,416
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 2:237,222,730...237,225,689
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
PMID:28492532
NCBI chr 4:133,117,346...133,808,647
Ensembl chr 4:131,564,756...132,112,258
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Ntf3
neurotrophin 3
ISS
OMIM:108800
MouseDO
NCBI chr 4:160,601,161...160,670,623
Ensembl chr 4:158,914,957...158,984,596
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Pkd1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: ASD II
ClinVar
PMID:25741868
NCBI chr10:14,077,733...14,125,682
Ensembl chr10:13,573,021...13,621,128
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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 chr12:41,026,079...41,085,577
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 chr12:42,342,926...42,399,723
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 chr13:100,691,540...100,793,227
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 8:76,516,654...76,543,661
Ensembl chr 8:67,635,479...67,662,802
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Gata4
GATA binding protein 4
ISO ISS
ClinVar Annotator: match by term: Atrial septal defect 2 OMIM:607941 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9536098 PMID:12845333 PMID:15810002 PMID:15863664 PMID:17548362 PMID:17576681 PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 PMID:19678963 PMID:20347099 PMID:20659440 PMID:20854389 PMID:20874241 PMID:20981092 PMID:21110066 PMID:21519287 PMID:21637475 PMID:23138528 PMID:23626780 PMID:23696316 PMID:24033266 PMID:25741868 PMID:26490186 PMID:26997702 PMID:27374936 PMID:27391137 PMID:27535533 PMID:28132688 PMID:28492532 PMID:29377543 PMID:31115957 PMID:32719394 PMID:32748548 PMID:32992319 PMID:35904974 More...
NCBI chr15:41,635,572...41,707,252
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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:11815426 PMID:15735645 PMID:15998695 PMID:16199547 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:24123366 PMID:24503780 PMID:25163546 PMID:25351510 PMID:25741868 PMID:25961944 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:28255936 PMID:28416588 PMID:28492532 PMID:28518168 PMID:28600387 PMID:28750076 PMID:28771489 PMID:28797094 PMID:28798025 PMID:28902392 PMID:28991257 PMID:29132927 PMID:29247119 PMID:29255176 PMID:29332214 PMID:29368431 PMID:29420653 PMID:29582157 PMID:29687901 PMID:29875424 PMID:29907873 PMID:29915097 PMID:30293987 PMID:30380018 PMID:30403391 PMID:30471092 PMID:30716529 PMID:30775854 PMID:30847666 PMID:30975432 PMID:31308319 PMID:31376648 PMID:31513939 PMID:31514951 PMID:31729605 PMID:31737537 PMID:31847883 PMID:31983221 PMID:32004434 PMID:32492895 PMID:32512245 PMID:32746448 PMID:32880476 PMID:32969603 PMID:33325730 PMID:33500567 PMID:34087240 PMID:34088380 PMID:34298581 PMID:34426522 PMID:34598319 PMID:34930662 PMID:35026164 PMID:35208637 PMID:35456442 PMID:35993536 PMID:36890431 More...
NCBI chr15:32,388,102...32,413,663
Ensembl chr15:28,417,616...28,441,720
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Tbx20
T-box transcription factor 20
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Atrial septal defect 4 | ClinVar Annotator: match by term: TBX20-related condition
OMIM CTD ClinVar
PMID:17668378 PMID:18834961 PMID:19074289 PMID:19762328 PMID:25741868 PMID:27510170 PMID:27642787 PMID:28492532 PMID:28553164 PMID:29089047 PMID:29517769 PMID:30820038 More...
NCBI chr 8:31,475,963...31,534,051
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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:676951 PMID:2255271 PMID:9536098 PMID:10494087 PMID:10966831 PMID:11052860 PMID:12860912 PMID:14729850 PMID:15058760 PMID:16267253 PMID:16611632 PMID:17576681 PMID:17611253 PMID:17623677 PMID:17916152 PMID:17947298 PMID:18379140 PMID:18400036 PMID:18403758 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:22464770 PMID:22555271 PMID:22563033 PMID:23054336 PMID:24033266 PMID:24461919 PMID:24736382 PMID:25163546 PMID:25239116 PMID:25611685 PMID:25741868 PMID:27532257 PMID:27561770 PMID:27600940 PMID:28138913 PMID:28356264 PMID:28416588 PMID:28492532 PMID:28750076 PMID:28790153 PMID:28798025 PMID:28973083 PMID:29121657 PMID:29764897 PMID:30297972 PMID:30371277 PMID:30471092 PMID:30847666 PMID:31246743 PMID:31430208 PMID:31434612 PMID:31481237 PMID:32880476 PMID:33049292 PMID:33309763 PMID:33500567 PMID:34088380 PMID:34495297 PMID:34935411 PMID:35026164 PMID:36129056 PMID:37477868 More...
NCBI chr 3:121,266,291...121,271,827
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 | ClinVar Annotator: match by term: TLL1-related condition CTD Direct Evidence: marker/mechanism DNA:mutation:cds:p.I263V (human) DNA:deletion|insertion|mutations:exons:multiple (human
OMIM ClinVar CTD RGD
PMID:10331975 PMID:18830233 PMID:25741868 PMID:28492532 PMID:31570783 PMID:37673932 PMID:27418595 PMID:18830233 More...
RGD:155883161 , RGD:155882583
NCBI chr16:25,509,146...25,710,330
Ensembl chr16:25,509,146...25,709,543
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Atp6v0e1
ATPase H+ transporting V0 subunit e1
ISO
ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome
ClinVar
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532
NCBI chr10:16,984,084...17,007,156
Ensembl chr10:16,479,567...16,524,434
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Bnip1
BCL2 interacting protein 1
ISO
ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome
ClinVar
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532
NCBI chr10:16,891,317...16,903,561
Ensembl chr10:16,386,841...16,399,157
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Crebrf
CREB3 regulatory factor
ISO
ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome
ClinVar
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532
NCBI chr10:16,903,607...16,967,450
Ensembl chr10:16,404,596...16,461,999
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Dusp1
dual specificity phosphatase 1
ISO
ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome
ClinVar
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532
NCBI chr10:17,184,853...17,187,646
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Ergic1
endoplasmic reticulum-golgi intermediate compartment 1
ISO
ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome
ClinVar
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532
NCBI chr10:17,035,615...17,131,411
Ensembl chr10:16,531,194...16,626,957
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Neurl1b
neuralized E3 ubiquitin protein ligase 1B
ISO
ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome
ClinVar
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532
NCBI chr10:16,754,002...16,785,049
Ensembl chr10:16,757,208...16,785,119
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Nkx2-5
NK2 homeobox 5
ISO ISS
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:108900
OMIM ClinVar MouseDO
PMID:1260978 PMID:9536098 PMID:9651244 PMID:10587520 PMID:10903346 PMID:10943630 PMID:10948187 PMID:11714651 PMID:12074273 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:17576681 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:20807224 PMID:20981092 PMID:21091212 PMID:21110066 PMID:21561848 PMID:21677783 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:26146939 PMID:26334177 PMID:26467025 PMID:26805889 PMID:27013732 PMID:27152669 PMID:27788187 PMID:27855642 PMID:27904570 PMID:28166811 PMID:28302382 PMID:28330612 PMID:28341588 PMID:28455095 PMID:28492532 PMID:28536625 PMID:28690296 PMID:29037160 PMID:29368431 PMID:29568389 PMID:29745128 PMID:30240412 PMID:30354339 PMID:30508507 PMID:30611920 PMID:30982828 PMID:31771441 PMID:31824610 PMID:31983221 PMID:32369864 PMID:32425884 PMID:33082984 PMID:33142350 PMID:33835496 PMID:34214246 PMID:35328834 More...
NCBI chr10:16,844,888...16,851,458
Ensembl chr10:16,344,159...16,346,934
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Rpl26l1
ribosomal protein L26 like 1
ISO
ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome
ClinVar
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532
NCBI chr10:16,520,383...16,524,604
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Sh3pxd2b
SH3 and PX domains 2B
ISO
ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome
ClinVar
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532
NCBI chr10:16,918,611...17,027,499
Ensembl chr10:16,918,679...17,005,170
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Stc2
stanniocalcin 2
ISO
ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome
ClinVar
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532
NCBI chr10:16,755,508...16,765,275
Ensembl chr10:16,250,853...16,262,973
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Bmp7
bone morphogenetic protein 7
ISO
ClinVar Annotator: match by term: Atrial septal defect 8
ClinVar
PMID:28492532
NCBI chr 3:182,059,318...182,135,273
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 1:14,132,303...14,134,746
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 chr18:2,460,909...2,492,322
Ensembl chr18:2,188,121...2,219,532
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Atp6v0e1
ATPase H+ transporting V0 subunit e1
ISO
ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects
ClinVar
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532
NCBI chr10:16,984,084...17,007,156
Ensembl chr10:16,479,567...16,524,434
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Bnip1
BCL2 interacting protein 1
ISO
ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects
ClinVar
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532
NCBI chr10:16,891,317...16,903,561
Ensembl chr10:16,386,841...16,399,157
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Crebrf
CREB3 regulatory factor
ISO
ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects
ClinVar
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532
NCBI chr10:16,903,607...16,967,450
Ensembl chr10:16,404,596...16,461,999
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Dusp1
dual specificity phosphatase 1
ISO
ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects
ClinVar
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532
NCBI chr10:17,184,853...17,187,646
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Ergic1
endoplasmic reticulum-golgi intermediate compartment 1
ISO
ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects
ClinVar
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532
NCBI chr10:17,035,615...17,131,411
Ensembl chr10:16,531,194...16,626,957
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Neurl1b
neuralized E3 ubiquitin protein ligase 1B
ISO
ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects
ClinVar
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532
NCBI chr10:16,754,002...16,785,049
Ensembl chr10:16,757,208...16,785,119
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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:9536098 PMID:9651244 PMID:10587520 PMID:10903346 PMID:10943630 PMID:10948187 PMID:11714651 PMID:12074273 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:17576681 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:20807224 PMID:20981092 PMID:21091212 PMID:21110066 PMID:21561848 PMID:21677783 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:26146939 PMID:26334177 PMID:26467025 PMID:26805889 PMID:27013732 PMID:27152669 PMID:27788187 PMID:27855642 PMID:27904570 PMID:28166811 PMID:28302382 PMID:28330612 PMID:28341588 PMID:28455095 PMID:28492532 PMID:28536625 PMID:28690296 PMID:29037160 PMID:29368431 PMID:29568389 PMID:29745128 PMID:30240412 PMID:30354339 PMID:30508507 PMID:30611920 PMID:30982828 PMID:31771441 PMID:31824610 PMID:31983221 PMID:32369864 PMID:32425884 PMID:33082984 PMID:33142350 PMID:33835496 PMID:34214246 PMID:35328834 More...
NCBI chr10:16,844,888...16,851,458
Ensembl chr10:16,344,159...16,346,934
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Rpl26l1
ribosomal protein L26 like 1
ISO
ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects
ClinVar
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532
NCBI chr10:16,520,383...16,524,604
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Sh3pxd2b
SH3 and PX domains 2B
ISO
ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects
ClinVar
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532
NCBI chr10:16,918,611...17,027,499
Ensembl chr10:16,918,679...17,005,170
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Stc2
stanniocalcin 2
ISO
ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects
ClinVar
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532
NCBI chr10:16,755,508...16,765,275
Ensembl chr10:16,250,853...16,262,973
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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 6:20,286,117...20,363,350
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 chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306
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Ccn1
cellular communication network factor 1
ISS ISO
OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474
MouseDO RGD
PMID:17023674
RGD:329845526
NCBI chr 2:237,222,730...237,225,689
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: AVC DEFECT
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:26,609,245...26,792,736
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 6:144,982,130...145,298,523
Ensembl chr 6:138,839,177...139,155,536
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Eln
elastin
ISO
ClinVar Annotator: match by term: AVC DEFECT
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928
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Foxp1
forkhead box P1
ISO
ClinVar Annotator: match by term: AVC DEFECT
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:133,117,346...133,808,647
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 chr15:41,635,572...41,707,252
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 chr18:2,460,909...2,492,322
Ensembl chr18:2,188,121...2,219,532
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Glyr1
glyoxylate reductase 1 homolog
ISS
OMIM:600309 | OMIM:606215 | OMIM:614430 | OMIM:614474
MouseDO
NCBI chr10:11,038,577...11,074,093
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 6:30,801,841...30,841,239
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 chr10:16,844,888...16,851,458
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: AVC DEFECT
MouseDO ClinVar
PMID:27058611
NCBI chr15:9,955,034...9,981,329
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 4:7,687,872...7,697,025
Ensembl chr 4:6,954,017...6,963,170
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Smarcal1
SNF2 related chromatin remodeling annealing helicase 1
ISO
ClinVar Annotator: match by term: AVC 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 9:81,689,446...81,735,406
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: AVC DEFECT
ClinVar
PMID:25741868
NCBI chr12:42,342,926...42,399,723
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 4:148,077,799...148,088,427
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 4:148,450,207...148,763,653
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 4:148,011,977...148,028,431
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 4:148,036,843...148,047,675
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 4:147,137,993...147,153,967
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 4:148,124,924...148,137,806
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 2 | ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 | ClinVar Annotator: match by term: CRELD1-related condition
ClinVar OMIM
PMID:11376440 PMID:12632326 PMID:15857420 PMID:17036335 PMID:21080147 PMID:23040494 PMID:24697899 PMID:24927998 PMID:25516202 PMID:25741868 PMID:28492532 PMID:37947183 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 4:148,218,686...148,234,595
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 4:148,234,633...148,299,035
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 4:148,421,315...148,431,128
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 4:148,174,573...148,187,071
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 4:148,160,384...148,173,830
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 4:148,341,704...148,398,211
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 4:148,147,213...148,151,915
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 4:146,317,110...146,340,073
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 4:146,948,993...147,007,878
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 4:148,030,237...148,037,599
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 4:147,154,374...147,171,723
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 4:147,291,463...147,376,904
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 4:146,553,743...146,562,789
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 4:148,433,344...148,446,735
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 4:147,772,955...147,850,669
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 4:149,004,447...149,037,840
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 4:148,328,099...148,334,992
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
ClinVar
PMID:25741868 PMID:28492532 PMID:30653986
NCBI chr20:36,302,490...36,315,010
Ensembl chr20:35,755,991...35,768,582
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Blk
BLK proto-oncogene, Src family tyrosine kinase
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect 4
ClinVar
PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32748548 More...
NCBI chr15:41,802,701...41,841,004
Ensembl chr15:37,627,039...37,665,031
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Ctsb
cathepsin B
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect 4
ClinVar
PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32748548 More...
NCBI chr15:41,565,607...41,586,479
Ensembl chr15:37,389,629...37,410,500
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Fdft1
farnesyl diphosphate farnesyl transferase 1
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect 4
ClinVar
PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32748548 More...
NCBI chr15:41,588,114...41,616,168
Ensembl chr15:37,412,146...37,440,287
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Gata4
GATA binding protein 4
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect 4
OMIM ClinVar
PMID:2087424 PMID:9536098 PMID:12845333 PMID:12939651 PMID:15235040 PMID:15863664 PMID:16199547 PMID:17352393 PMID:17576681 PMID:17592645 PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 PMID:19353638 PMID:19678963 PMID:19915893 PMID:20347099 PMID:20363377 PMID:20450724 PMID:20659440 PMID:20854389 PMID:20874241 PMID:20931527 PMID:20981092 PMID:21055141 PMID:21110066 PMID:21220346 PMID:21276881 PMID:21373748 PMID:21519287 PMID:21631294 PMID:21637475 PMID:21834050 PMID:21933911 PMID:22318994 PMID:22498567 PMID:22552926 PMID:22648249 PMID:23138528 PMID:23239632 PMID:23626780 PMID:23696316 PMID:24033266 PMID:24127225 PMID:24482639 PMID:24696446 PMID:25205790 PMID:25516202 PMID:25741868 PMID:26014430 PMID:26490186 PMID:26997702 PMID:27139165 PMID:27374936 PMID:27391137 PMID:27418595 PMID:27426723 PMID:27535533 PMID:27810688 PMID:27899157 PMID:28132688 PMID:28161810 PMID:28263493 PMID:28471988 PMID:28492532 PMID:28798025 PMID:28986455 PMID:29377543 PMID:29670578 PMID:29735817 PMID:29874181 PMID:30152191 PMID:30293987 PMID:30455927 PMID:30755392 PMID:31115957 PMID:31322791 PMID:31513339 PMID:32719394 PMID:32748548 PMID:32901917 PMID:32992319 PMID:33142350 PMID:33865372 PMID:35063694 PMID:35418170 More...
NCBI chr15:41,635,572...41,707,252
Ensembl chr15:37,459,601...37,505,636
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Neil2
nei-like DNA glycosylase 2
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect 4
ClinVar
PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 PMID:25516202 PMID:28492532 PMID:32748548 More...
NCBI chr15:41,620,650...41,631,551
Ensembl chr15:37,445,381...37,454,863
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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:22318994 PMID:22750565 PMID:23223019 PMID:24310933 PMID:25706805 PMID:25741868 PMID:27756709 PMID:28381408 PMID:28492532 PMID:28518168 PMID:28659821 PMID:28991257 PMID:29101065 PMID:31264968 PMID:31271559 PMID:32461654 PMID:34493817 PMID:36525927 More...
NCBI chr18:2,460,909...2,492,322
Ensembl chr18:2,188,121...2,219,532
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Mib1
MIB E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect 5
ClinVar
PMID:22318994 PMID:28492532
NCBI chr18:1,802,519...1,926,988
Ensembl chr18:1,802,519...1,920,689
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Mir1
microRNA 1
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect 5
ClinVar
PMID:22318994 PMID:28492532
NCBI chr18:2,160,327...2,160,413
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Mir133a1
microRNA 133a-1
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect 5
ClinVar
PMID:22318994 PMID:28492532
NCBI chr18:2,157,872...2,157,958
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Gja1
gap junction protein, alpha 1
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect and common atrioventricular junction
ClinVar
PMID:11470490 PMID:22090377 PMID:25741868 PMID:28492532 PMID:30653986
NCBI chr20:36,302,490...36,315,010
Ensembl chr20:35,755,991...35,768,582
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Adnp2
ADNP homeobox 2
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:75,846,860...75,871,638
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 chr18:76,129,243...76,193,404
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 chr18:78,046,803...78,062,359
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 chr18:78,130,652...78,241,174
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 chr18:76,321,386...76,430,997
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 chr18:73,497,992...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 chr18:75,914,247...75,923,893
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 chr18:76,680,997...76,700,905
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 chr18:75,976,000...76,014,651
Ensembl chr18:73,702,564...73,739,676
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Txnl4a
thioredoxin-like 4A
ISO
ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome | ClinVar Annotator: match by term: TXNL4A-related condition CTD Direct Evidence: marker/mechanism DNA:missense mutations,deletions:promoter, cds: DNA:deletions:promoter:
OMIM ClinVar CTD RGD
PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 PMID:28492532 PMID:32735620 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 chr18:78,251,248...78,351,037
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 chr18:78,561,069...78,661,263
Ensembl chr18:76,302,096...76,385,269
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Ephb4
EPH receptor B4
ISO
ClinVar Annotator: match by term: EPHB4-associated vascular malformation spectrum | ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | ClinVar Annotator: match by term: Lymphatic malformation 7
OMIM ClinVar
PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29444212 PMID:29905864 PMID:30578106 PMID:30760892 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 ISO
OMIM:617300 ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY
MouseDO ClinVar
PMID:25741868 PMID:35235341
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 chr12:25,005,741...25,022,628
Ensembl chr12:19,369,004...19,385,877
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Aff4
ALF transcription elongation factor 4
ISO
ClinVar Annotator: match by term: AFF4-related condition | 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:28492532 PMID:29758562 PMID:31058441 PMID:34782754 More...
NCBI chr10:37,998,319...38,080,580
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 chr10:16,844,888...16,851,458
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 chr10:34,414,834...34,455,878
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 chr14:80,333,242...80,401,641
Ensembl chr14:76,108,654...76,167,182
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Bin3
bridging integrator 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,583,474...51,622,329
Ensembl chr15:45,173,732...45,212,604
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Bmp1
bone morphogenetic protein 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,961,310...52,005,597
Ensembl chr15:45,551,603...45,595,776
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C15h8orf58
similar to human chromosome 8 open reading frame 58
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:45,228,615...45,235,274
Ensembl chr15:45,228,615...45,233,254
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Ccar2
cell cycle and apoptosis regulator 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:45,212,797...45,228,001
Ensembl chr15:45,212,803...45,227,636
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Chmp7
charged multivesicular body protein 7
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,200,759...51,215,992
Ensembl chr15:44,790,996...44,806,216
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Dmtn
dematin actin binding protein
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:45,677,974...45,702,261
Ensembl chr15:45,677,977...45,705,601
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Egr3
early growth response 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,560,482...51,565,778
Ensembl chr15:45,150,567...45,154,627
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Entpd4
ectonucleoside triphosphate diphosphohydrolase 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,040,665...51,068,450
Ensembl chr15:44,630,873...44,658,706
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Fgf17
fibroblast growth factor 17
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:45,711,498...45,717,622
Ensembl chr15:45,711,998...45,717,063
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Fhip2b
FHF complex subunit HOOK interacting protein 2B
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:52,066,341...52,084,296
Ensembl chr15:45,656,647...45,674,105
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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 7:110,268,608...110,272,105
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:19666519 PMID:25741868 PMID:28492532 PMID:29101065 PMID:31301121
NCBI chr18:2,460,909...2,492,322
Ensembl chr18:2,188,121...2,219,532
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Hr
HR, lysine demethylase and nuclear receptor corepressor
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:52,036,540...52,056,019
Ensembl chr15:45,626,835...45,646,313
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Lgi3
leucine-rich repeat LGI family, member 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:45,605,611...45,612,739
Ensembl chr15:45,605,611...45,612,739
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Loxl2
lysyl oxidase-like 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,091,547...51,182,843
Ensembl chr15:44,683,880...44,773,067
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Mir320a
microRNA 320a
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,926,088...51,926,169
Ensembl chr15:45,516,392...45,516,473
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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 5:163,748,346...163,768,141
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: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis
OMIM ClinVar
PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 PMID:15161646 PMID:15810002 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:22920929 PMID:23661673 PMID:24033266 PMID:24376681 PMID:25741868 PMID:25742962 PMID:26805889 PMID:27152669 PMID:27904570 PMID:28166811 PMID:28492532 PMID:28536625 PMID:29368431 PMID:30508507 PMID:31824610 PMID:31983221 PMID:32369864 PMID:32425884 More...
NCBI chr10:16,844,888...16,851,458
Ensembl chr10:16,344,159...16,346,934
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Nkx2-6
NK2 homeobox 6
ISO
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532
NCBI chr15:50,852,965...50,857,060
Ensembl chr15:44,443,101...44,447,247
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Nkx3-1
NK3 homeobox 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:50,883,661...50,886,253
Ensembl chr15:44,473,851...44,476,441
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Nudt18
nudix hydrolase 18
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:45,650,597...45,653,985
Ensembl chr15:45,650,664...45,653,963
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Pdlim2
PDZ and LIM domain 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:45,235,421...45,250,187
Ensembl chr15:45,237,477...45,249,242
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Pebp4
phosphatidylethanolamine binding protein 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:44,920,946...45,134,188
Ensembl chr15:44,921,886...45,134,191
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Phyhip
phytanoyl-CoA 2-hydroxylase interacting protein
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:45,533,974...45,545,223
Ensembl chr15:45,533,974...45,545,221
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Piwil2
piwi-like RNA-mediated gene silencing 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,841,104...51,907,729
Ensembl chr15:45,431,703...45,497,702
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Polr3d
RNA polymerase III subunit D
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,921,283...51,925,952
Ensembl chr15:45,511,589...45,516,353
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Ppp3cc
protein phosphatase 3 catalytic subunit gamma
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,699,586...51,771,763
Ensembl chr15:45,290,373...45,361,832
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R3hcc1
R3H domain and coiled-coil containing 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:44,774,552...44,781,864
Ensembl chr15:44,774,554...44,791,800
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Reep4
receptor accessory protein 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:52,030,022...52,033,229
Ensembl chr15:45,619,941...45,623,526
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Rhobtb2
Rho-related BTB domain containing 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,278,024...51,298,209
Ensembl chr15:44,870,376...44,888,651
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Sftpc
surfactant protein C
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:52,006,274...52,009,324
Ensembl chr15:45,596,574...45,610,777
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Slc25a37
solute carrier family 25 member 37
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:50,944,085...50,986,506
Ensembl chr15:44,536,727...44,577,199
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Slc39a14
solute carrier family 39 member 14
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,786,517...51,833,260
Ensembl chr15:45,376,917...45,423,524
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Sorbs3
sorbin and SH3 domain containing 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,662,639...51,699,161
Ensembl chr15:45,253,379...45,284,758
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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 cardiac defects | 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 PMID:29250159 PMID:29500247 PMID:33995479 More...
NCBI chr11:95,913,610...95,923,392
Ensembl chr11:82,409,275...82,418,380
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Tbx2
T-box transcription factor 2
susceptibility
ISO
DNA:SNP:3'UTR:rs59382073(human)
RGD
PMID:30262811
RGD:401794414
NCBI chr10:71,177,082...71,186,275
Ensembl chr10:70,679,518...70,688,529
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Tnfrsf10b
TNF receptor superfamily member 10b
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,249,883...51,278,091
Ensembl chr15:44,840,386...44,867,467
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Tnfrsf22
tumor necrosis factor receptor superfamily, member 22
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 1:208,269,844...208,285,823
Ensembl chr 1:198,840,453...198,856,309
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Cers1
ceramide synthase 1
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:17924340 PMID:25741868
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 9:44,234,997...44,247,846
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 3:126,770,945...126,780,769
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
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Double outlet right ventricle
CTD ClinVar
PMID:17924340 PMID:25741868
NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519
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Isl1
ISL LIM homeobox 1
ISO
DNA:mutation:cds:c.225C>G(human)
RGD
PMID:31484864
RGD:243048467
NCBI chr 2:49,813,618...49,823,442
Ensembl chr 2:48,080,522...48,095,584
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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 6:41,446,683...41,452,584
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 4:147,772,955...147,850,669
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 9:120,646,657...120,753,880
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 7:73,563,732...74,001,041
Ensembl chr 7:71,678,880...72,116,205
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G6pc3
glucose 6 phosphatase catalytic subunit 3
ISO
ClinVar Annotator: match by term: Dursun syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:87,647,149...87,651,385
Ensembl chr10:87,146,901...87,151,221
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Ncdn
neurochondrin
ISO
ClinVar Annotator: match by term: Floating-Harbor syndrome
ClinVar
PMID:25741868
NCBI chr 5:139,037,807...139,047,645
Ensembl chr 5:139,037,819...139,047,568
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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 | ClinVar Annotator: match by term: SRCAP-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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:25590979 PMID:25741868 PMID:26788936 PMID:28492532 PMID:31200758 PMID:31607746 PMID:31715605 PMID:32170002 PMID:33288889 PMID:33909990 PMID:34006472 PMID:34906459 PMID:35664296 More...
NCBI chr 1:191,554,043...191,607,096
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 PMID:31390136 PMID:32412169 PMID:33609422 More...
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 3:177,891,705...177,909,743
Ensembl chr 3:157,474,642...157,490,822
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Tbx5
T-box transcription factor 5
ISO ISS
ClinVar Annotator: match by term: Heart-hand syndrome, type 1 | ClinVar Annotator: match by term: Holt-Oram syndrome | ClinVar Annotator: match by term: TBX5-related condition OMIM:142900 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.G125R (human) DNA:missense mutations, deletion:cds:multiple
OMIM ClinVar MouseDO CTD RGD
PMID:2070544 PMID:8911604 PMID:8988164 PMID:8988165 PMID:9536098 PMID:10077612 PMID:10077762 PMID:10842287 PMID:11183182 PMID:11431700 PMID:11555635 PMID:12499378 PMID:12624158 PMID:12789647 PMID:12818525 PMID:14402857 PMID:15096952 PMID:15355425 PMID:15710732 PMID:15735645 PMID:16183809 PMID:16199547 PMID:16380715 PMID:16917909 PMID:17534187 PMID:17576681 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:25326637 PMID:25623069 PMID:25680289 PMID:25741868 PMID:25931334 PMID:25963046 PMID:26219450 PMID:26401820 PMID:26490186 PMID:26762269 PMID:26859351 PMID:26938784 PMID:28492532 PMID:28855715 PMID:29451098 PMID:29755943 PMID:30143665 PMID:30538526 PMID:30552424 PMID:31116477 PMID:31215120 PMID:31502745 PMID:32236096 PMID:34159885 PMID:34426522 PMID:34917776 PMID:36135330 PMID:11572777 PMID:18451335 PMID:20519243 More...
RGD:1578428 , RGD:7327219 , RGD:7327217
NCBI chr12:42,342,926...42,399,723
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 chr13:100,691,540...100,793,227
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 chr17:32,840,119...32,844,100
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 chr18:75,846,860...75,871,638
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 chr18:76,129,243...76,193,404
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 chr18:78,046,803...78,062,359
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 chr18:78,130,652...78,241,174
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: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:76,321,386...76,430,997
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: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:73,497,992...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 chr18:75,914,247...75,923,893
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 chr18:76,680,997...76,700,905
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 chr18:75,976,000...76,014,651
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:32735620 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 chr18:78,251,248...78,351,037
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 chr18:78,561,069...78,661,263
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:157,159,051...157,185,559
Ensembl chr X:152,007,758...152,031,052
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Pkd1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type
ClinVar
PMID:25741868
NCBI chr10:14,077,733...14,125,682
Ensembl chr10:13,573,021...13,621,128
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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 chr12:41,026,079...41,085,577
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 chr10:105,154,873...105,254,148
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 chr12:42,342,926...42,399,723
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 1:104,918,462...104,949,453
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 chr18:2,460,909...2,492,322
Ensembl chr18:2,188,121...2,219,532
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Nkx2-5
NK2 homeobox 5
ISO
ClinVar Annotator: match by term: Persistent truncus arteriosus
ClinVar
PMID:10587520 PMID:10903346 PMID:11714651 PMID:14607454 PMID:16418214 PMID:17891434 PMID:19073351 PMID:19464101 PMID:19533775 PMID:19948535 PMID:20456451 PMID:20807224 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr10:16,844,888...16,851,458
Ensembl chr10:16,344,159...16,346,934
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Nkx2-6
NK2 homeobox 6
ISO
DNA:missense mutation:CDS:p.F151L (human) ClinVar Annotator: match by term: Persistent truncus arteriosus
ClinVar RGD
PMID:15649947 PMID:25741868 PMID:15649947
RGD:155882448
NCBI chr15:50,852,965...50,857,060
Ensembl chr15:44,443,101...44,447,247
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Pbx1
PBX homeobox 1
ISO
RGD
PMID:18723445
RGD:155630610
NCBI chr13:82,811,664...83,121,447
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 4:18,538,452...18,702,453
Ensembl chr 4:17,583,212...17,746,534
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Foxp1
forkhead box P1
ISO
ClinVar Annotator: match by term: Pulmonary atresia with ventricular septal defect
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:133,117,346...133,808,647
Ensembl chr 4:131,564,756...132,112,258
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Recql4
RecQ like helicase 4
ISO
ClinVar Annotator: match by term: Radial and patellar hypoplasia | ClinVar Annotator: match by term: Rapadilino syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:9878247 PMID:10319867 PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:15221963 PMID:15897384 PMID:15964893 PMID:16199547 PMID:17250975 PMID:17576681 PMID:18504617 PMID:18716613 PMID:19291770 PMID:20113479 PMID:21143835 PMID:21418107 PMID:22885111 PMID:23238538 PMID:24033266 PMID:24518840 PMID:24635570 PMID:24728327 PMID:25120469 PMID:25741868 PMID:25966250 PMID:26491355 PMID:27247962 PMID:28039508 PMID:28486640 PMID:28492532 PMID:28767289 PMID:29367366 PMID:29478780 PMID:29625052 PMID:30306255 PMID:31829210 PMID:32482547 PMID:32659497 PMID:32659967 PMID:33046774 PMID:33077847 PMID:33294214 PMID:33606809 More...
NCBI chr 7:110,304,092...110,311,426
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:17,570,184...17,582,130
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: 3C syndrome
ClinVar
PMID:25741868
NCBI chr 1:173,076,219...173,179,663
Ensembl chr 1:173,076,099...173,180,610
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Washc5
WASH complex subunit 5
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 3C syndrome
CTD ClinVar
PMID:9536098 PMID:17576681 PMID:24123792 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr 7:90,884,192...90,936,096
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:31971710
NCBI chr X:17,570,184...17,582,130
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:24824269 PMID:25741868 PMID:26467025 PMID:27957547 PMID:28492532 PMID:31971710 More...
NCBI chr 7:90,884,192...90,936,096
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: CCDC22-related condition | 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:17,570,184...17,582,130
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 Annotator: match by term: VPS35L-related condition
OMIM ClinVar
PMID:25741868 PMID:31712251 PMID:36113987
NCBI chr 1:173,076,219...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:25741868 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:12,856,708...12,883,670
Ensembl chr X:10,183,068...10,210,918
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Bcor
BCL6 co-repressor
ISO ISS
ClinVar Annotator: match by term: BCOR-related condition | ClinVar Annotator: match by term: BCOR-related disorder | ClinVar Annotator: match by term: Oculofaciocardiodental syndrome OMIM:300166 DNA:mutations:cds: CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:15004558 PMID:15770227 PMID:16199547 PMID:16829040 PMID:17517692 PMID:18414213 PMID:19367324 PMID:21740180 PMID:22012066 PMID:22983184 PMID:23557072 PMID:23815237 PMID:24047651 PMID:24728327 PMID:25326637 PMID:25620158 PMID:25741868 PMID:26539891 PMID:26694549 PMID:28166811 PMID:28317252 PMID:28492532 PMID:28827447 PMID:29663558 PMID:29974297 PMID:30333627 PMID:31048080 PMID:38177409 PMID:15004558 More...
RGD:1600504
NCBI chr X:13,282,431...13,402,254
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:25741868 PMID:28492532
NCBI chr17:62,835,055...62,902,331
Ensembl chr17:58,142,625...58,210,622
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Bmp10
bone morphogenetic protein 10
ISS
OMIM:187500
MouseDO
NCBI chr 4:121,423,936...121,439,094
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 3:182,059,318...182,135,273
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 9:44,234,997...44,247,846
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 1:14,132,303...14,134,746
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 PMID:28492532
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 2:80,668,182...80,985,918
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 1:254,533,504...254,539,605
Ensembl chr 1:244,584,652...244,590,359
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Flnc
filamin C
ISO
ClinVar Annotator: match by term: Tetralogy of Fallot
ClinVar
PMID:27908349
NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844
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Flt4
Fms related receptor tyrosine kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28991257
NCBI chr10:34,414,834...34,455,878
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 chr17:32,840,119...32,844,100
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 chr19:66,094,718...66,097,420
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 7:110,268,608...110,272,105
Ensembl chr 7:108,387,969...108,390,049
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Gata4
GATA binding protein 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
OMIM CTD 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:27139165 PMID:27374936 PMID:27535533 PMID:28161810 PMID:28471988 PMID:28492532 PMID:29670578 PMID:30152191 PMID:31513339 PMID:32748548 PMID:32992319 More...
NCBI chr15:41,635,572...41,707,252
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 3:187,796,140...187,804,327
Ensembl chr 3:167,418,565...167,426,751
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Gata6
GATA binding protein 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Tetralogy of Fallot
OMIM CTD ClinVar
PMID:20581743 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29389947
NCBI chr18:2,460,909...2,492,322
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 chr20:36,302,490...36,315,010
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 2:187,291,227...187,310,770
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 chr16:37,928,145...37,931,488
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 1:28,641,100...28,651,187
Ensembl chr 1:26,822,131...26,832,218
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Hira
histone cell cycle regulator
ISO
mRNA,protein:decreased expression: myocardium :
RGD
PMID:27748330
RGD:401851914
NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529
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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 1:31,859,101...31,868,089
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:9536098 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 PMID:11152664 PMID:12239725 PMID:12497640 PMID:12649809 PMID:15712272 PMID:16575836 PMID:17576681 PMID:19780835 PMID:19948535 PMID:20437614 PMID:21752016 PMID:22040217 PMID:23956173 PMID:24033266 PMID:24748328 PMID:25260786 PMID:25741868 PMID:26760175 PMID:28492532 PMID:30293987 PMID:32065591 PMID:33433009 PMID:11152664 More...
RGD:1582344
NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:124,406,794...124,442,209
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Kdr
kinase insert domain receptor
ISO
ClinVar Annotator: match by term: Tetralogy of Fallot
ClinVar
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
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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: Tetralogy of Fallot
ClinVar
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 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 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 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 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 6:100,713,510...100,781,013
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 5:163,748,346...163,768,141
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 2:59,126,676...59,314,841
Ensembl chr 2:57,399,445...57,565,899
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Nkx2-5
NK2 homeobox 5
ISO ISS
DNA:missense mutations:cds:multiple (human) ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM:187500 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 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:22920929 PMID:24033266 PMID:24376681 PMID:25741868 PMID:25742962 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 chr10:16,844,888...16,851,458
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 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531
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Nrp1
neuropilin 1
susceptibility
ISO
DNA:SNP: :rs2228638(human)
RGD
PMID:29432830
RGD:401901152
NCBI chr19:73,256,557...73,411,705
Ensembl chr19:56,359,455...56,513,633
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Ntf3
neurotrophin 3
ISS
OMIM:187500
MouseDO
NCBI chr 4:160,601,161...160,670,623
Ensembl chr 4:158,914,957...158,984,596
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Phc1
polyhomeotic homolog 1
ISS
OMIM:187500
MouseDO
NCBI chr 4:157,182,348...157,205,504
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 chr12:41,026,079...41,085,577
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: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:19041016 PMID:19169500 PMID:20516206 PMID:21253810 PMID:21765987 PMID:21810974 PMID:22199277 PMID:22233172 PMID:22359510 PMID:22676344 PMID:22992277 PMID:23660872 PMID:24336963 PMID:25741868 PMID:25810047 PMID:26084817 PMID:26467025 PMID:27539324 PMID:27807060 PMID:28492532 PMID:28873162 PMID:29656518 PMID:30660595 PMID:31510104 PMID:34629742 PMID:34881033 More...
NCBI chr 4:152,998,344...153,040,556
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:28492532 PMID:28592524 PMID:29194579 PMID:35227688
NCBI chr11:24,067,869...25,108,694
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:9536098 PMID:11748311 PMID:15355425 PMID:17576681 PMID:18375573 PMID:19948535 PMID:24998776 PMID:25093829 PMID:25741868 PMID:28272434 PMID:28492532 PMID:29250159 PMID:29500247 PMID:33995479 More...
NCBI chr11:95,913,610...95,923,392
Ensembl chr11:82,409,275...82,418,380
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Tbx20
T-box transcription factor 20
ISO
DNA:hypomethylation:promoter mRNA:increased expression:heart (human)
RGD
PMID:31138201 PMID:18275040
RGD:155882584 , RGD:155882585
NCBI chr 8:31,475,963...31,534,051
Ensembl chr 8:23,204,507...23,258,175
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Tpm1
tropomyosin 1
ISO
ClinVar Annotator: match by term: Tetralogy of Fallot
ClinVar
PMID:28359939
NCBI chr 8:76,516,654...76,543,661
Ensembl chr 8:67,635,479...67,662,802
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Zfpm2
zinc finger protein, multitype 2
ISO ISS
OMIM:187500 CTD Direct Evidence: marker/mechanism DNA,mRNA:hypermethylation,decreased expression:promoter,heart: ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
MouseDO CTD ClinVar OMIM RGD
PMID:14517948 PMID:20807224 PMID:24033266 PMID:24549039 PMID:24702427 PMID:25741868 PMID:28492532 PMID:14517948 PMID:26959486 More...
RGD:1580641 , RGD:155882486
NCBI chr 7:73,563,732...74,001,041
Ensembl chr 7:71,678,880...72,116,205
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Acvr1
activin A receptor type 1
ISO
RGD
PMID:22536403
RGD:329337340
NCBI chr 3:63,387,378...63,506,980
Ensembl chr 3:42,978,561...43,098,241
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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 4:69,329,772...69,476,931
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 1:14,132,303...14,134,746
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 chr12:24,841,285...24,844,725
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 1:194,175,703...194,280,914
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:157,159,051...157,185,559
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 chr19:66,062,635...66,066,427
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 chr15:41,635,572...41,707,252
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 PMID:22536403
RGD:155260356 , RGD:329337340
NCBI chr 3:187,796,140...187,804,327
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 chr18:2,460,909...2,492,322
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 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018
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Isl1
ISL LIM homeobox 1
susceptibility
ISO
DNA:polymorphisms: :rs3762977,IVS1+17C(human) DNA:SNP: :rs1017(human)
RGD
PMID:23572340 PMID:24634231
RGD:243048461 , RGD:243049248
NCBI chr 2:49,813,618...49,823,442
Ensembl chr 2:48,080,522...48,095,584
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Mmp9
matrix metallopeptidase 9
severity
ISO
RGD
PMID:21238444
RGD:13204804
NCBI chr 3:174,103,474...174,111,434
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 6:41,446,683...41,452,584
Ensembl chr 6:35,717,764...35,723,590
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Nfatc1
nuclear factor of activated T-cells 1
susceptibility
ISO
DNA:SNPs,haplotype: :rs7240256,rs11665469,rs754505 (human) DNA:repeats: :
RGD
PMID:23286482 PMID:21499900
RGD:243065234 , RGD:268530901
NCBI chr18:76,321,386...76,430,997
Ensembl chr18:74,046,904...74,156,028
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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 chr10:16,844,888...16,851,458
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 chr15:50,852,965...50,857,060
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 chr14:81,057,727...81,135,866
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 1:224,263,823...224,694,350
Ensembl chr 1:214,837,927...215,267,600
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Robo1
roundabout guidance receptor 1
ISO
RGD
PMID:25691540
RGD:243048427
NCBI chr11:24,067,869...25,108,694
Ensembl chr11:10,580,908...11,620,203
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Robo2
roundabout guidance receptor 2
ISO
RGD
PMID:25691540
RGD:243048427
NCBI chr11:26,015,919...27,583,750
Ensembl chr11:12,528,951...13,041,536
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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 1:93,420,078...93,551,305
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 3:177,891,705...177,909,743
Ensembl chr 3:157,474,642...157,490,822
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Slit2
slit guidance ligand 2
ISO
RGD
PMID:25691540
RGD:243048427
NCBI chr14:66,829,661...67,168,517
Ensembl chr14:62,617,067...62,955,948
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Smarca4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
ISO
ClinVar Annotator: match by term: Ventricular septal defect
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:28,438,370...28,535,071
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 chr11:95,913,610...95,923,392
Ensembl chr11:82,409,275...82,418,380
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Tbx20
T-box transcription factor 20
ISO
DNA:hypomethylation:promoter
RGD
PMID:30084275
RGD:155882594
NCBI chr 8:31,475,963...31,534,051
Ensembl chr 8:23,204,507...23,258,175
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Tcf21
transcription factor 21
susceptibility
ISO
DNA:SNPs:3'UTR: (rs12190287) (human)
RGD
PMID:28346832
RGD:329337362
NCBI chr 1:24,520,499...24,523,358
Ensembl chr 1:22,701,353...22,704,202
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Yes1
YES proto-oncogene 1, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24478334
NCBI chr 9:120,646,657...120,753,880
Ensembl chr 9:113,200,256...113,299,837
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Zfpm2
zinc finger protein, multitype 2
ISO
RGD
PMID:25196150
RGD:155882481
NCBI chr 7:73,563,732...74,001,041
Ensembl chr 7:71,678,880...72,116,205
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Bmp2
bone morphogenetic protein 2
ISO
ClinVar Annotator: match by term: Ventricular septal defect 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:120,812,882...120,821,397
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Bmp7
bone morphogenetic protein 7
ISO
ClinVar Annotator: match by term: Ventricular septal defect 1
ClinVar
NCBI chr 3:182,059,318...182,135,273
Ensembl chr 3:161,516,462...161,716,788
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Creld1
cysteine-rich with EGF-like domains 1
ISO
ClinVar Annotator: match by term: Ventricular septal defect 1
ClinVar
NCBI chr 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499
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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:27139165 PMID:27374936 PMID:28161810 PMID:28471988 PMID:28492532 PMID:29377543 PMID:29670578 PMID:31513339 PMID:32748548 PMID:32992319 PMID:33142350 More...
NCBI chr15:41,635,572...41,707,252
Ensembl chr15:37,459,601...37,505,636
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Irx4
iroquois homeobox 4
ISO
ClinVar Annotator: match by term: Ventricular septal defect 1
ClinVar
NCBI chr 1:31,859,101...31,868,089
Ensembl chr 1:30,030,561...30,039,549
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Cited2
Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
ISO
ClinVar Annotator: match by term: CITED2-related condition | ClinVar Annotator: match by term: Ventricular septal defect 2
OMIM ClinVar
PMID:16287139 PMID:25741868 PMID:28492532
NCBI chr 1:14,132,303...14,134,746
Ensembl chr 1:12,312,160...12,314,897
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Nkx2-5
NK2 homeobox 5
ISO
ClinVar Annotator: match by term: Ventricular septal defect 3
OMIM ClinVar
PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 PMID:15161646 PMID:15917268 PMID:17544441 PMID:18414213 PMID:19933292 PMID:20659440 PMID:21110066 PMID:21165553 PMID:22920929 PMID:24033266 PMID:24376681 PMID:25741868 PMID:25742962 PMID:26805889 PMID:27152669 PMID:27904570 PMID:28492532 PMID:28536625 PMID:29368431 PMID:30508507 PMID:31824610 PMID:31983221 PMID:32369864 PMID:32425884 More...
NCBI chr10:16,844,888...16,851,458
Ensembl chr10:16,344,159...16,346,934
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