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: atrioventricular septal defect
Accession: DOID:0050651
browse the term
Definition: A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. (DO)
Synonyms: exact_synonym: AVC defect; AVCD; AVSD; Atrioventricular Canal Defect; ECD; endocardial cushion defect
narrow_synonym: AVSD1; atrioventricular septal defect, somatic; atrioventricular septal defect, susceptibility to, 1
primary_id: MESH:C562831
alt_id: OMIM:606215
xref: GARD:802 ; ICD10CM:Q21.2 ; ICD9CM:745.6 ; NCI:C101029 ; OMIM:PS606215 ; ORDO:98722
G
BMP4
bone morphogenetic protein 4
ISS
OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474
MouseDO
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
G
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 1:85,580,761...85,583,950
Ensembl chr 1:85,580,761...85,584,589
G
CHD7
chromodomain helicase DNA binding protein 7
IAGP
ClinVar Annotator: match by term: AVC DEFECT
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
G
DNAH11
dynein axonemal heavy chain 11
ISS
OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474
MouseDO
NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839
G
ELN
elastin
IAGP
ClinVar Annotator: match by term: AVC DEFECT
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
G
FOXP1
forkhead box P1
IAGP
ClinVar Annotator: match by term: AVC DEFECT
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978
G
GATA4
GATA binding protein 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
G
GATA6
GATA binding protein 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
G
GLYR1
glyoxylate reductase 1 homolog
ISS
OMIM:600309 | OMIM:606215 | OMIM:614430 | OMIM:614474
MouseDO
NCBI chr16:4,803,203...4,847,288
Ensembl chr16:4,803,203...4,847,288
G
IFT172
intraflagellar transport 172
ISS
OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474
MouseDO
NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
G
MKS1
MKS transition zone complex subunit 1
ISS
OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474
MouseDO
NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
G
NKX2-5
NK2 homeobox 5
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, somatic
ClinVar
PMID:15342699 PMID:15917268
NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
G
NR1D2
nuclear receptor subfamily 1 group D member 2
ISS IAGP
OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 ClinVar Annotator: match by term: AVC DEFECT
MouseDO ClinVar
PMID:27058611
NCBI chr 3:23,945,286...23,980,617
Ensembl chr 3:23,945,286...23,980,617
G
SHH
sonic hedgehog signaling molecule
ISO
RGD
PMID:19538633
RGD:12801428
NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
G
SMARCAL1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
IAGP
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 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053
G
TBX5
T-box transcription factor 5
IAGP
ClinVar Annotator: match by term: AVC DEFECT
ClinVar
PMID:25741868
NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442
G
ARPC4
actin related protein 2/3 complex subunit 4
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:9,792,518...9,807,101
Ensembl chr 3:9,792,495...9,807,101
G
ARPC4-TTLL3
ARPC4-TTLL3 readthrough
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:9,792,548...9,836,356
Ensembl chr 3:9,793,082...9,835,401
G
ATP2B2
ATPase plasma membrane Ca2+ transporting 2
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:10,324,023...10,708,007
Ensembl chr 3:10,324,023...10,708,007
G
BRK1
BRICK1 subunit of SCAR/WAVE actin nucleating complex
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:25516202 PMID:28492532
NCBI chr 3:10,115,675...10,127,190
Ensembl chr 3:10,115,675...10,127,190
G
BRPF1
bromodomain and PHD finger containing 1
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:9,731,735...9,748,015
Ensembl chr 3:9,731,729...9,748,019
G
CAMK1
calcium/calmodulin dependent protein kinase I
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:9,757,347...9,769,947
Ensembl chr 3:9,757,347...9,769,992
G
CAV3
caveolin 3
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808
G
CIDEC
cell death inducing DFFA like effector c
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:9,866,710...9,880,253
Ensembl chr 3:9,866,711...9,880,255
G
CPNE9
copine family member 9
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:9,703,833...9,729,908
Ensembl chr 3:9,703,826...9,729,908
G
CRELD1
cysteine rich with EGF like domains 1
susceptibility
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 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 More...
NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413
G
EMC3
ER membrane protein complex subunit 3
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:25516202 PMID:28492532
NCBI chr 3:9,962,682...10,011,118
Ensembl chr 3:9,962,682...10,011,202
G
FANCD2
FA complementation group D2
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:25516202 PMID:28492532
NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
G
FANCD2OS
FANCD2 opposite strand
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:25516202 PMID:28492532
NCBI chr 3:10,081,320...10,108,457
Ensembl chr 3:10,081,317...10,108,255
G
GHRL
ghrelin and obestatin prepropeptide
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:10,285,666...10,292,947
Ensembl chr 3:10,285,666...10,292,947
G
GHRLOS
ghrelin opposite strand/antisense RNA
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:10,280,952...10,293,449
Ensembl chr 3:10,285,754...10,294,903
G
GRM7
glutamate metabotropic receptor 7
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533
G
IL17RC
interleukin 17 receptor C
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:9,917,098...9,933,621
Ensembl chr 3:9,917,074...9,933,630
G
IL17RE
interleukin 17 receptor E
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:9,902,093...9,916,402
Ensembl chr 3:9,902,612...9,916,402
G
IRAK2
interleukin 1 receptor associated kinase 2
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:10,164,919...10,243,745
Ensembl chr 3:10,164,919...10,243,745
G
JAGN1
jagunal homolog 1
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:9,890,610...9,894,349
Ensembl chr 3:9,890,574...9,894,349
G
LHFPL4
LHFPL tetraspan subfamily member 4
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:9,498,361...9,553,822
Ensembl chr 3:9,498,361...9,553,822
G
LINC00312
long intergenic non-protein coding RNA 312
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:8,571,782...8,574,668
G
LMCD1
LIM and cysteine rich domains 1
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:8,501,823...8,574,668
Ensembl chr 3:8,501,807...8,574,668
G
MTMR14
myotubularin related protein 14
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:9,649,505...9,702,393
Ensembl chr 3:9,649,433...9,702,393
G
OGG1
8-oxoguanine DNA glycosylase
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
G
OXTR
oxytocin receptor
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:8,741,269...8,769,613
Ensembl chr 3:8,750,381...8,769,628
G
PRRT3
proline rich transmembrane protein 3
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:25516202 PMID:28492532
NCBI chr 3:9,945,542...9,952,408
Ensembl chr 3:9,939,450...9,952,408
G
RAD18
RAD18 E3 ubiquitin protein ligase
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:8,877,075...8,963,472
Ensembl chr 3:8,775,402...8,963,773
G
RPUSD3
RNA pseudouridine synthase D3
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:9,837,849...9,844,008
Ensembl chr 3:9,837,849...9,844,602
G
SEC13
SEC13 homolog, nuclear pore and COPII coat complex component
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:10,300,931...10,321,112
Ensembl chr 3:10,293,131...10,321,112
G
SETD5
SET domain containing 5
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240
G
SLC6A1
solute carrier family 6 member 1
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:10,992,748...11,039,247
Ensembl chr 3:10,992,186...11,039,247
G
SLC6A11
solute carrier family 6 member 11
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:10,816,228...10,940,714
Ensembl chr 3:10,816,201...10,940,714
G
SRGAP3
SLIT-ROBO Rho GTPase activating protein 3
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:8,980,591...9,363,027
Ensembl chr 3:8,980,591...9,363,053
G
SSUH2
ssu-2 homolog
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:8,619,386...8,681,927
Ensembl chr 3:8,619,386...8,745,040
G
TADA3
transcriptional adaptor 3
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:9,779,967...9,793,011
Ensembl chr 3:9,779,967...9,793,011
G
TATDN2
TatD DNase domain containing 2
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:10,248,459...10,281,218
Ensembl chr 3:10,248,023...10,281,218
G
THUMPD3
THUMP domain containing 3
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:9,363,054...9,386,791
Ensembl chr 3:9,362,971...9,386,791
G
TTLL3
tubulin tyrosine ligase like 3
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:28492532
NCBI chr 3:9,809,727...9,836,365
Ensembl chr 3:9,808,086...9,855,138
G
VHL
von Hippel-Lindau tumor suppressor
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar
PMID:25516202 PMID:28492532
NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667
G
GJA1
gap junction protein alpha 1
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect 3
ClinVar
PMID:25741868 PMID:28492532 PMID:30653986
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
G
GATA4
GATA binding protein 4
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect 4
ClinVar OMIM
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:22011241 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:29368431 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 chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
G
LOC110120689
VISTA enhancer hs508
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect 4
ClinVar
PMID:22318994 PMID:23239632 PMID:23696316 PMID:28492532
NCBI chr 8:11,746,673...11,747,186
G
LOC110121280
VISTA enhancer hs2204
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect 4
ClinVar
PMID:22318994 PMID:23239632 PMID:23696316 PMID:28492532
NCBI chr 8:11,699,806...11,703,497
G
LOC110121281
VISTA enhancer hs2205
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect 4
ClinVar
PMID:22318994 PMID:23239632 PMID:23696316 PMID:28492532
NCBI chr 8:11,739,275...11,744,047
G
LOC111365225
HNF4 motif-containing MPRA enhancer 121
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect 4
ClinVar
PMID:22318994 PMID:23239632 PMID:23696316 PMID:28492532
NCBI chr 8:11,718,788...11,718,932
G
LOC129999900
ATAC-STARR-seq lymphoblastoid silent region 18936
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect 4
ClinVar
PMID:22318994 PMID:23239632 PMID:23696316 PMID:28492532
G
LOC129999901
ATAC-STARR-seq lymphoblastoid active region 27031
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect 4
ClinVar
PMID:22318994 PMID:23239632 PMID:23696316 PMID:28492532
G
SNORA99
small nucleolar RNA, H/ACA box 99
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect 4
ClinVar
PMID:22318994 PMID:23239632 PMID:23696316 PMID:28492532
NCBI chr 8:11,705,362...11,705,558
G
GATA6
GATA binding protein 6
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect 5
ClinVar OMIM
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 chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
G
MIB1
MIB E3 ubiquitin protein ligase 1
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect 5
ClinVar
PMID:22318994 PMID:28492532
NCBI chr18:21,704,916...21,870,953
Ensembl chr18:21,704,957...21,870,953
G
MIR1-2
microRNA 1-2
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect 5
ClinVar
PMID:22318994 PMID:28492532
NCBI chr18:21,829,004...21,829,088
Ensembl chr18:21,829,004...21,829,088
G
MIR133A1
microRNA 133a-1
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect 5
ClinVar
PMID:22318994 PMID:28492532
NCBI chr18:21,825,698...21,825,785
Ensembl chr18:21,825,698...21,825,785
G
GJA1
gap junction protein alpha 1
IAGP
ClinVar Annotator: match by term: Atrioventricular septal defect and common atrioventricular junction
ClinVar
PMID:11470490 PMID:22090377 PMID:25741868 PMID:28492532 PMID:30653986
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
G
CRELD1
cysteine rich with EGF like domains 1
EXP IAGP
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 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all