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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
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Accession:DOID:1681 term browser 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.


show annotations for term's descendants           Sort by:
heart septal defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR2 bone morphogenetic protein receptor type 2 ISO RGD PMID:21070126 RGD:5129230 NCBI chr2B:89,631,622...89,823,438
Ensembl chr2B:207,780,741...207,961,072 		JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16287139 NCBI chr 6:137,134,142...137,136,550 JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 susceptibility ISO Atrioventricular septal defect;DNA:missense mutations RGD PMID:12632326 RGD:1600967 NCBI chr 3:9,878,265...9,889,826 JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO DNA:SNP:intron:rs326119(human) RGD PMID:22179537 RGD:7244247 NCBI chr 5:8,195,868...8,228,071
Ensembl chr 5:8,017,403...8,049,322 		JBrowse link
G NKX2-5 NK2 homeobox 5 ISO RGD PMID:12112663 RGD:1581130 NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514 		JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 9:48,480,607...48,943,331
Ensembl chr 9:74,745,761...75,220,502 		JBrowse link
G PITX2 paired like homeodomain 2 ISO RGD PMID:23361844 RGD:12910561 NCBI chr 4:103,112,624...103,137,356 JBrowse link
G 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 chr17:55,501,932...55,511,537
Ensembl chr17:60,622,098...60,630,189 		JBrowse link
G TLL1 tolloid like 1 ISO RGD PMID:10331975 RGD:155882595 NCBI chr 4:158,068,424...158,300,856
Ensembl chr 4:170,157,417...170,384,260 		JBrowse link
atrial heart septal defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870 		JBrowse link
G ACTL6A actin like 6A ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:19215055 PMID:25741868 PMID:28649782 PMID:31994175 NCBI chr 3:176,595,149...176,620,556
Ensembl chr 3:184,765,523...184,790,983 		JBrowse link
G BMP4 bone morphogenetic protein 4 susceptibility ISO DNA:SNP: :rs762642(human) RGD PMID:25022354 RGD:13442496 NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr 8:57,091,002...57,282,471
Ensembl chr 8:58,816,840...58,945,186 		JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr2B:76,339,756...76,487,133
Ensembl chr2B:194,259,316...194,407,237 		JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 PMID:28492532 PMID:29460469 PMID:30755392 NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206 		JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr  X:23,728,650...26,338,849
Ensembl chr  X:31,282,415...33,492,733 		JBrowse link
G ERF ETS2 repressor factor ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr19:39,135,757...39,143,343
Ensembl chr19:47,728,192...47,735,808 		JBrowse link
G GATA4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 8:7,442,921...7,526,731 JBrowse link
G HDAC8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr  X:61,565,790...61,811,588
Ensembl chr  X:71,649,341...71,894,896 		JBrowse link
G ISL1 ISL LIM homeobox 1 susceptibility ISO DNA:SNP: :rs1017(human) RGD PMID:24634231 RGD:243049248 NCBI chr 5:62,635,095...62,650,141
Ensembl chr 5:64,252,715...64,264,674 		JBrowse link
G LOC100978529 myosin-7 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763 		JBrowse link
G LOC100987752 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 PMID:28492532 NCBI chr15:13,707,475...13,712,905
Ensembl chr15:31,966,278...31,971,782 		JBrowse link
G MN1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 PMID:31834374 NCBI chr22:8,799,832...8,854,695 JBrowse link
G MYH6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28416588 PMID:28492532 More... NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331 		JBrowse link
G 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 More... NCBI chr 3:120,711,705...120,983,432
Ensembl chr 3:127,614,173...127,793,261 		JBrowse link
G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:18414213 PMID:18976153 PMID:19181906 PMID:19464101 PMID:20981092 More... NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514 		JBrowse link
G PQBP1 polyglutamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16740914 NCBI chr  X:41,188,244...41,200,312
Ensembl chr  X:49,053,030...49,058,585 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:16835904 PMID:24033266 PMID:25741868 NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327 		JBrowse link
G SETBP1 SET binding protein 1 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr18:37,963,089...38,350,092
Ensembl chr18:41,524,998...41,885,453 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 PMID:28492532 NCBI chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952 		JBrowse link
G 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 chr2A:39,019,046...39,162,248
Ensembl chr2A:39,773,760...39,911,961 		JBrowse link
G TBX2 T-box transcription factor 2 ISO DNA:SNP:promoter:rs4455026(c.‐1028G>C)(human) RGD PMID:30525309 RGD:401794416 NCBI chr17:55,501,932...55,511,537
Ensembl chr17:60,622,098...60,630,189 		JBrowse link
G TBX20 T-box transcription factor 20 susceptibility ISO DNA:SNPs, haplotype: (rs17675131, rs4720169) (human) RGD PMID:26675025 RGD:155882600 NCBI chr 7:35,855,969...35,878,533 JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO RGD PMID:25196150 RGD:155882481 NCBI chr 8:101,872,850...102,430,622
Ensembl chr 8:104,023,062...104,576,688 		JBrowse link
atrial heart septal defect 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Atrial septal defect 1 ClinVar NCBI chr20:6,765,161...6,777,728
Ensembl chr20:6,546,173...6,558,610 		JBrowse link
G CCN1 cellular communication network factor 1 ISO OMIM:108800 MouseDO NCBI chr 1:118,138,739...118,141,681
Ensembl chr 1:86,994,296...86,997,147 		JBrowse link
G FOXP1 forkhead box P1 ISO ClinVar Annotator: match by term: Atrial septal defect 1 ClinVar PMID:28492532 NCBI chr 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173 		JBrowse link
G NTF3 neurotrophin 3 ISO OMIM:108800 MouseDO NCBI chr12:5,551,734...5,615,981
Ensembl chr12:5,530,508...5,533,989 		JBrowse link
G 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 More... NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		JBrowse link
G TBX5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Atrial septal defect 1 ClinVar NCBI chr12:111,954,222...112,009,261
Ensembl chr12:115,333,609...115,389,739 		JBrowse link
G TGFB2 transforming growth factor beta 2 ISO ClinVar Annotator: match by term: Atrial septal defect 1 ClinVar NCBI chr 1:193,907,398...194,005,800
Ensembl chr 1:198,758,751...198,859,041 		JBrowse link
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Atrial septal defect 1 ClinVar PMID:28359939 NCBI chr15:41,989,239...42,018,520
Ensembl chr15:60,286,587...60,315,530 		JBrowse link
atrial heart septal defect 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Atrial septal defect 2 OMIM
ClinVar		 PMID:9536098 PMID:12845333 PMID:15810002 PMID:15863664 PMID:17548362 More... NCBI chr 8:7,442,921...7,526,731 JBrowse link
atrial heart septal defect 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Atrial septal defect 3 OMIM
ClinVar		 PMID:9536098 PMID:11815426 PMID:15735645 PMID:15998695 PMID:16199547 More... NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331 		JBrowse link
atrial heart septal defect 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBX20 T-box transcription factor 20 ISO ClinVar Annotator: match by term: Atrial septal defect 4 | ClinVar Annotator: match by term: TBX20-related condition OMIM
ClinVar		 PMID:17668378 PMID:18834961 PMID:19074289 PMID:19762328 PMID:25741868 More... NCBI chr 7:35,855,969...35,878,533 JBrowse link
atrial heart septal defect 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100987752 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Atrial septal defect 5 OMIM
ClinVar		 PMID:676951 PMID:2255271 PMID:9536098 PMID:10494087 PMID:10966831 More... NCBI chr15:13,707,475...13,712,905
Ensembl chr15:31,966,278...31,971,782 		JBrowse link
atrial heart septal defect 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TLL1 tolloid like 1 ISO ClinVar Annotator: match by term: Atrial septal defect 6 | ClinVar Annotator: match by term: TLL1-related condition OMIM
ClinVar		 PMID:10331975 PMID:18830233 PMID:25741868 PMID:28492532 PMID:31570783 NCBI chr 4:158,068,424...158,300,856
Ensembl chr 4:170,157,417...170,384,260 		JBrowse link
atrial heart septal defect 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr 5:168,336,845...168,388,230
Ensembl chr 5:175,246,088...175,297,289 		JBrowse link
G 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 chr 5:168,497,889...168,517,790
Ensembl chr 5:175,406,525...175,426,087 		JBrowse link
G 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 chr 5:168,409,668...168,492,678
Ensembl chr 5:175,318,674...175,403,334 		JBrowse link
G 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 chr 5:168,121,536...168,124,671
Ensembl chr 5:175,032,803...175,035,960 		JBrowse link
G 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 chr 5:168,187,760...168,305,675
Ensembl chr 5:175,098,246...175,215,920 		JBrowse link
G 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 chr 5:167,994,646...168,045,364 JBrowse link
G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrial septal defect 7 with or without atrioventricular conduction defects | ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome OMIM
ClinVar		 PMID:1260978 PMID:9536098 PMID:9651244 PMID:10587520 PMID:10903346 More... NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514 		JBrowse link
G 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 chr 5:168,311,701...168,322,770
Ensembl chr 5:175,222,385...175,232,506 		JBrowse link
G 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 chr 5:168,668,851...168,681,274
Ensembl chr 5:175,575,419...175,587,832 		JBrowse link
atrial heart septal defect 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Atrial septal defect 8 ClinVar PMID:28492532 NCBI chr20:53,509,484...53,606,889
Ensembl chr20:54,788,974...54,885,021 		JBrowse link
G 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 6:137,134,142...137,136,550 JBrowse link
atrial heart septal defect 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Atrial septal defect 9 OMIM
ClinVar		 PMID:20631719 PMID:25741868 PMID:28492532 NCBI chr18:15,411,764...15,444,402 JBrowse link
Atrial Septal Defect with Atrioventricular Conduction Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr 5:168,336,845...168,388,230
Ensembl chr 5:175,246,088...175,297,289 		JBrowse link
G 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 chr 5:168,497,889...168,517,790
Ensembl chr 5:175,406,525...175,426,087 		JBrowse link
G 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 chr 5:168,409,668...168,492,678
Ensembl chr 5:175,318,674...175,403,334 		JBrowse link
G 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 chr 5:168,121,536...168,124,671
Ensembl chr 5:175,032,803...175,035,960 		JBrowse link
G 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 chr 5:168,187,760...168,305,675
Ensembl chr 5:175,098,246...175,215,920 		JBrowse link
G 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 chr 5:167,994,646...168,045,364 JBrowse link
G 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 More... NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514 		JBrowse link
G 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 chr 5:168,311,701...168,322,770
Ensembl chr 5:175,222,385...175,232,506 		JBrowse link
G 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 chr 5:168,668,851...168,681,274
Ensembl chr 5:175,575,419...175,587,832 		JBrowse link
Atrial Septal Defect, Secundum Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO DNA:missense mutation:CDS:p.E846K (mouse) RGD PMID:21041952 RGD:11064696 NCBI chr2A:39,019,046...39,162,248
Ensembl chr2A:39,773,760...39,911,961 		JBrowse link
atrioventricular septal defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752 		JBrowse link
G CCN1 cellular communication network factor 1 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO
RGD		 PMID:17023674 RGD:329845526 NCBI chr 1:118,138,739...118,141,681
Ensembl chr 1:86,994,296...86,997,147 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:57,091,002...57,282,471
Ensembl chr 8:58,816,840...58,945,186 		JBrowse link
G DNAH11 dynein axonemal heavy chain 11 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 7:22,228,345...22,585,681
Ensembl chr 7:21,540,932...21,897,485 		JBrowse link
G ELN elastin ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532
G FOXP1 forkhead box P1 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173 		JBrowse link
G GATA4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:7,442,921...7,526,731 JBrowse link
G GATA6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:15,411,764...15,444,402 JBrowse link
G GLYR1 glyoxylate reductase 1 homolog ISO OMIM:600309 | OMIM:606215 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr16:3,727,358...3,771,554
Ensembl chr16:4,892,827...4,936,615 		JBrowse link
G IFT172 intraflagellar transport 172 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr2A:27,448,139...27,492,302
Ensembl chr2A:27,536,534...27,580,406 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr17:52,281,443...52,295,919
Ensembl chr17:57,137,254...57,151,328 		JBrowse link
G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, somatic ClinVar PMID:15342699 PMID:15917268 NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514 		JBrowse link
G NR1D2 nuclear receptor subfamily 1 group D member 2 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:27058611 NCBI chr 3:23,857,317...23,892,533
Ensembl chr 3:24,185,798...24,215,831 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:19538633 RGD:12801428 NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651 		JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258 		JBrowse link
G TBX5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 NCBI chr12:111,954,222...112,009,261
Ensembl chr12:115,333,609...115,389,739 		JBrowse link
Atrioventricular Septal Defect 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 3:9,744,055...9,758,627
Ensembl chr 3:9,981,934...9,996,250 		JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,260,556...10,643,346
Ensembl chr 3:10,611,619...10,738,006 		JBrowse link
G 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 3:10,051,054...10,062,364
Ensembl chr 3:10,403,896...10,415,545 		JBrowse link
G BRPF1 bromodomain and PHD finger containing 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,684,091...9,700,376
Ensembl chr 3:9,922,769...9,939,016 		JBrowse link
G CAMK1 calcium/calmodulin dependent protein kinase I ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,708,782...9,721,433
Ensembl chr 3:9,945,609...9,959,560 		JBrowse link
G CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,684,829...8,697,731
Ensembl chr 3:8,928,069...8,940,942 		JBrowse link
G 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 3:9,811,995...9,836,069
Ensembl chr 3:10,048,554...10,173,107 		JBrowse link
G CPNE9 copine family member 9 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,655,280...9,682,266
Ensembl chr 3:9,893,662...9,920,728 		JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 susceptibility ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 | ClinVar Annotator: match by term: CRELD1-related condition OMIM
ClinVar		 PMID:11376440 PMID:12632326 PMID:15857420 PMID:17036335 PMID:21080147 More... NCBI chr 3:9,878,265...9,889,826 JBrowse link
G 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 3:9,907,446...9,932,140
Ensembl chr 3:10,256,276...10,280,626 		JBrowse link
G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:9,932,292...10,037,332
Ensembl chr 3:10,312,476...10,389,190 		JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:10,038,805...10,043,651
Ensembl chr 3:10,392,169...10,392,702 		JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,221,829...10,229,229
Ensembl chr 3:10,573,537...10,580,723 		JBrowse link
G GRM7 glutamate metabotropic receptor 7 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:6,811,005...7,691,344
Ensembl chr 3:6,907,180...7,933,536 		JBrowse link
G IL17RC interleukin 17 receptor C ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,861,423...9,878,154
Ensembl chr 3:10,210,241...10,226,796 		JBrowse link
G IL17RE interleukin 17 receptor E ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,846,319...9,860,735
Ensembl chr 3:10,195,209...10,208,958 		JBrowse link
G IRAK2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,100,279...10,179,487
Ensembl chr 3:10,453,329...10,532,629 		JBrowse link
G JAGN1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,835,123...9,838,398
Ensembl chr 3:10,183,760...10,187,064 		JBrowse link
G LHFPL4 LHFPL tetraspan subfamily member 4 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,453,628...9,506,434
Ensembl chr 3:9,695,091...9,745,722 		JBrowse link
G LMCD1 LIM and cysteine rich domains 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,448,143...8,521,214 JBrowse link
G MTMR14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,600,866...9,653,860
Ensembl chr 3:9,839,821...9,892,055 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335 		JBrowse link
G OXTR oxytocin receptor ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,701,344...8,721,706 JBrowse link
G 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 3:9,890,336...9,897,263
Ensembl chr 3:10,238,720...10,246,127 		JBrowse link
G RAD18 RAD18 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,832,910...8,918,067
Ensembl chr 3:9,076,500...9,161,585 		JBrowse link
G RPUSD3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,788,950...9,795,189
Ensembl chr 3:10,025,320...10,031,639 		JBrowse link
G 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 3:10,237,101...10,257,694
Ensembl chr 3:10,588,644...10,608,754 		JBrowse link
G SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,350,026...9,430,760
Ensembl chr 3:9,592,517...9,672,306 		JBrowse link
G SLC6A1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,930,455...10,976,968
Ensembl chr 3:11,296,023...11,323,624 		JBrowse link
G SLC6A11 solute carrier family 6 member 11 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,753,412...10,878,333
Ensembl chr 3:11,101,336...11,222,948 		JBrowse link
G 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 3:8,935,179...9,315,264
Ensembl chr 3:9,183,641...9,327,559 		JBrowse link
G SSUH2 ssu-2 homolog ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,573,866...8,599,956
Ensembl chr 3:8,818,553...8,844,625 		JBrowse link
G TADA3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,731,462...9,744,513
Ensembl chr 3:9,969,550...9,982,389 		JBrowse link
G TATDN2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,184,220...10,217,099
Ensembl chr 3:10,536,852...10,568,824 		JBrowse link
G THUMPD3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,315,275...9,338,096
Ensembl chr 3:9,557,894...9,581,157 		JBrowse link
G TTLL3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,759,871...9,786,690
Ensembl chr 3:9,999,144...10,035,633 		JBrowse link
G 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 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234 		JBrowse link
Atrioventricular Septal Defect 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 3 ClinVar PMID:25741868 PMID:28492532 PMID:30653986 NCBI chr 6:119,213,513...119,227,617 JBrowse link
Atrioventricular Septal Defect 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 8:7,442,921...7,526,731 JBrowse link
Atrioventricular Septal Defect 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr18:15,411,764...15,444,402 JBrowse link
G MIB1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr18:14,944,432...15,113,313
Ensembl chr18:18,641,135...18,740,813 		JBrowse link
Atrioventricular Septal Defect and Common Atrioventricular Junction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr 6:119,213,513...119,227,617 JBrowse link
Burn-McKeown syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADNP2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,757,926...73,789,771
Ensembl chr18:77,080,441...77,103,098 		JBrowse link
G ATP9B ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:72,468,421...72,847,314
Ensembl chr18:75,686,430...75,988,106 		JBrowse link
G CTDP1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,279,510...73,357,718
Ensembl chr18:76,646,641...76,722,573 		JBrowse link
G GALR1 galanin receptor 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:70,643,718...70,664,068
Ensembl chr18:73,899,995...73,917,752 		JBrowse link
G HSBP1L1 heat shock factor binding protein 1 like 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,608,483...73,615,823 JBrowse link
G KCNG2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,431,735...73,546,602 JBrowse link
G MBP myelin basic protein ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:70,369,882...70,526,693
Ensembl chr18:73,629,522...73,755,351 		JBrowse link
G NFATC1 nuclear factor of activated T cells 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:72,948,067...73,083,180
Ensembl chr18:76,017,454...76,094,453 		JBrowse link
G PARD6G par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,806,710...73,904,494
Ensembl chr18:77,122,483...77,167,659 		JBrowse link
G RBFA ribosome binding factor A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,679,972...73,696,321
Ensembl chr18:76,997,888...77,013,864 		JBrowse link
G SALL3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:72,381,249...72,403,789 JBrowse link
G SLC66A2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,549,273...73,596,658
Ensembl chr18:76,869,584...76,915,363 		JBrowse link
G 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 OMIM
ClinVar		 PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More... NCBI chr18:73,618,302...73,679,603
Ensembl chr18:76,937,460...76,952,428 		JBrowse link
G ZNF236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:70,213,383...70,361,741
Ensembl chr18:73,496,761...73,617,956 		JBrowse link
G ZNF516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:69,748,472...69,891,026
Ensembl chr18:73,026,076...73,103,609 		JBrowse link
central conducting lymphatic anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPHB4 EPH receptor B4 ISO 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:29905864 More... NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022 		JBrowse link
G MDFIC MyoD family inhibitor domain containing ISO ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY ClinVar PMID:25741868 PMID:35235341 NCBI chr 7:106,886,481...106,983,546
Ensembl chr 7:119,584,817...119,678,614 		JBrowse link
G SLC12A9 solute carrier family 12 member 9 ISO ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:92,877,655...92,891,957
Ensembl chr 7:106,288,530...106,294,968
Ensembl chr 7:106,288,530...106,294,968 		JBrowse link
CHOPS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 5:128,292,700...128,374,511
Ensembl chr 5:134,457,398...134,532,625 		JBrowse link
Common Ventricle term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Single ventricle ClinVar PMID:19948535 PMID:23285148 PMID:25742962 PMID:28492532 PMID:29037160 More... NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514 		JBrowse link
Congenital Heart Defects, Multiple Types, 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 5:175,804,728...175,852,703
Ensembl chr 5:183,115,856...183,149,006 		JBrowse link
Conotruncal Cardiac Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADD1 adducin 1 ISO DNA:SNP: :p.G460W (human) RGD PMID:16100725 RGD:5147996 NCBI chr 4:2,986,301...3,072,590
Ensembl chr 4:2,920,781...2,975,012 		JBrowse link
G BIN3 bridging integrator 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,870,784...21,919,077
Ensembl chr 8:18,809,582...18,858,912 		JBrowse link
G BMP1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,410,139...21,457,144
Ensembl chr 8:18,349,836...18,396,796 		JBrowse link
G C7H8orf58 chromosome 7 C8orf58 homolog ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,849,622...21,854,234
Ensembl chr 8:18,783,612...18,792,386 		JBrowse link
G CCAR2 cell cycle and apoptosis regulator 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,854,803...21,870,556
Ensembl chr 8:18,794,027...18,808,571 		JBrowse link
G CHMP7 charged multivesicular body protein 7 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,497,479...22,513,005
Ensembl chr 8:19,434,829...19,450,221 		JBrowse link
G DMTN dematin actin binding protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,293,759...21,327,600
Ensembl chr 8:18,251,886...18,266,229 		JBrowse link
G EGR3 early growth response 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,937,516...21,943,646
Ensembl chr 8:18,877,396...18,882,874 		JBrowse link
G ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,678,746...22,707,408
Ensembl chr 8:19,571,337...19,635,150 		JBrowse link
G FGF17 fibroblast growth factor 17 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,284,451...21,293,633
Ensembl chr 8:18,224,461...18,233,537 		JBrowse link
G FHIP2B FHF complex subunit HOOK interacting protein 2B ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,333,581...21,349,344
Ensembl chr 8:18,279,023...18,287,880 		JBrowse link
G FOXH1 forkhead box H1 ISO ClinVar Annotator: match by term: Conotruncal defect ClinVar PMID:25741868 PMID:32003456 NCBI chr 8:141,240,691...141,244,381
Ensembl chr 8:144,225,933...144,232,736 		JBrowse link
G 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 chr18:15,411,764...15,444,402 JBrowse link
G HR HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,359,348...21,378,315
Ensembl chr 8:18,298,709...18,316,151 		JBrowse link
G LGI3 leucine rich repeat LGI family member 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,391,765...21,401,770
Ensembl chr 8:18,330,815...18,340,403 		JBrowse link
G LOXL2 lysyl oxidase like 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,547,303...22,653,676
Ensembl chr 8:19,483,335...19,589,522 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association ISO DNA:SNPs:cds:c.677C>T,c.1298A>C (human) RGD PMID:12705333 RGD:11565174 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419 		JBrowse link
G 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 More... NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514 		JBrowse link
G 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:24421281 PMID:25741868 PMID:28492532 NCBI chr 8:22,949,843...22,955,391
Ensembl chr 8:19,884,480...19,888,643 		JBrowse link
G NKX3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,926,145...22,930,396
Ensembl chr 8:19,863,275...19,864,942 		JBrowse link
G NUDT18 nudix hydrolase 18 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,351,840...21,356,915
Ensembl chr 8:18,293,555...18,297,078 		JBrowse link
G PDLIM2 PDZ and LIM domain 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,828,923...21,844,483
Ensembl chr 8:18,767,142...18,783,658 		JBrowse link
G PEBP4 phosphatidylethanolamine binding protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,963,297...22,250,024
Ensembl chr 8:18,902,734...19,117,025 		JBrowse link
G PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,464,544...21,477,197
Ensembl chr 8:18,404,176...18,417,035 		JBrowse link
G PIWIL2 piwi like RNA-mediated gene silencing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,520,166...21,608,374
Ensembl chr 8:18,463,173...18,544,186 		JBrowse link
G POLR3D RNA polymerase III subunit D ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,489,492...21,499,948
Ensembl chr 8:18,429,013...18,435,060 		JBrowse link
G PPP3CC protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,690,598...21,791,335
Ensembl chr 8:18,629,261...18,729,995 		JBrowse link
G R3HCC1 R3H domain and coiled-coil containing 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,538,046...22,546,405
Ensembl chr 8:19,474,061...19,482,437 		JBrowse link
G REEP4 receptor accessory protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,382,943...21,386,871
Ensembl chr 8:18,322,302...18,326,212 		JBrowse link
G RHOBTB2 Rho related BTB domain containing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,246,075...22,269,443
Ensembl chr 8:19,183,931...19,209,420 		JBrowse link
G SFTPC surfactant protein C ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,402,060...21,409,438
Ensembl chr 8:18,345,940...18,348,764 		JBrowse link
G SLC25A37 solute carrier family 25 member 37 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,778,309...22,824,871
Ensembl chr 8:19,713,441...19,759,993 		JBrowse link
G SLC39A14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,617,529...21,672,726
Ensembl chr 8:18,555,895...18,621,510 		JBrowse link
G SORBS3 sorbin and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,794,805...21,825,675
Ensembl chr 8:18,733,776...18,763,861 		JBrowse link
G 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 More... NCBI chr22:2,521,080...2,541,267 JBrowse link
G TBX2 T-box transcription factor 2 susceptibility ISO DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chr17:55,501,932...55,511,537
Ensembl chr17:60,622,098...60,630,189 		JBrowse link
G TNFRSF10A TNF receptor superfamily member 10a ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,440,502...22,476,790
Ensembl chr 8:19,378,547...19,414,724 		JBrowse link
G TNFRSF10B TNF receptor superfamily member 10b ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,270,325...22,318,841
Ensembl chr 8:19,209,904...19,258,498 		JBrowse link
G TNFRSF10C TNF receptor superfamily member 10c ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,352,777...22,368,737
Ensembl chr 8:19,292,020...19,307,719 		JBrowse link
G TNFRSF10D TNF receptor superfamily member 10d ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,385,592...22,414,142
Ensembl chr 8:19,324,232...19,352,766 		JBrowse link
double outlet right ventricle term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CERS1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chr19:18,308,265...18,334,892
Ensembl chr19:19,317,173...19,342,487 		JBrowse link
G CFC1B cryptic, EGF-CFC family member 1B ISO OMIM:217095 MouseDO NCBI chr2B:29,354,004...29,362,161 JBrowse link
G DLL4 delta like canonical Notch ligand 4 susceptibility ISO RGD PMID:34859965 RGD:155663381 NCBI chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471 		JBrowse link
G ECE1 endothelin converting enzyme 1 ISO OMIM:217095 MouseDO NCBI chr 1:20,166,019...20,290,803
Ensembl chr 1:21,206,199...21,278,909 		JBrowse link
G GDF1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chr19:18,306,513...18,334,328
Ensembl chr19:19,317,173...19,342,487 		JBrowse link
G ISL1 ISL LIM homeobox 1 ISO DNA:mutation:cds:c.225C>G(human) RGD PMID:31484864 RGD:243048467 NCBI chr 5:62,635,095...62,650,141
Ensembl chr 5:64,252,715...64,264,674 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:25741868 NCBI chr2A:15,925,130...15,931,605 JBrowse link
G SETD5 SET domain containing 5 ISO RGD PMID:34050709 RGD:155794379 NCBI chr 3:9,350,026...9,430,760
Ensembl chr 3:9,592,517...9,672,306 		JBrowse link
G YES1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr18:13,513,124...13,605,379
Ensembl chr18:15,848,765...17,245,246 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 More... NCBI chr 8:101,872,850...102,430,622
Ensembl chr 8:104,023,062...104,576,688 		JBrowse link
Floating-Harbor syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SRCAP Snf2 related CREBBP activator protein ISO ClinVar Annotator: match by term: Floating-Harbor syndrome | ClinVar Annotator: match by term: SRCAP-related condition OMIM
ClinVar		 PMID:9536098 PMID:11522779 PMID:11746027 PMID:17576681 PMID:18414213 More... NCBI chr16:24,229,869...24,271,427
Ensembl chr16:31,065,964...31,106,312 		JBrowse link
HEART AND BRAIN MALFORMATION SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr19:40,679,952...40,704,104
Ensembl chr19:49,285,796...49,309,980 		JBrowse link
Holt-Oram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SALL4 spalt like transcription factor 4 ISO CTD Direct Evidence: marker/mechanism
DNA:deletion, nonsense mutations:exon:c.326delC, p.K175X, p.R617X (human)		 CTD
RGD		 PMID:12843316 PMID:30067223 RGD:11556209 NCBI chr20:48,130,387...48,150,569
Ensembl chr20:49,254,039...49,273,589 		JBrowse link
G TBX5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Holt-Oram syndrome | ClinVar Annotator: match by term: TBX5-related condition OMIM
ClinVar		 PMID:2070544 PMID:8911604 PMID:8988164 PMID:8988165 PMID:9536098 More... NCBI chr12:111,954,222...112,009,261
Ensembl chr12:115,333,609...115,389,739 		JBrowse link
G 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 More... NCBI chr 1:193,907,398...194,005,800
Ensembl chr 1:198,758,751...198,859,041 		JBrowse link
Hypertelorism and Tetralogy of Fallot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXC1 forkhead box C1 ISO ClinVar Annotator: match by term: Hypertelorism and tetralogy of fallot ClinVar PMID:25741868 NCBI chr 6:1,429,051...1,433,180 JBrowse link
Oculootofacial Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADNP2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:73,757,926...73,789,771
Ensembl chr18:77,080,441...77,103,098 		JBrowse link
G ATP9B ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:72,468,421...72,847,314
Ensembl chr18:75,686,430...75,988,106 		JBrowse link
G CTDP1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:73,279,510...73,357,718
Ensembl chr18:76,646,641...76,722,573 		JBrowse link
G GALR1 galanin receptor 1 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:70,643,718...70,664,068
Ensembl chr18:73,899,995...73,917,752 		JBrowse link
G HSBP1L1 heat shock factor binding protein 1 like 1 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:73,608,483...73,615,823 JBrowse link
G KCNG2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:73,431,735...73,546,602 JBrowse link
G MBP myelin basic protein ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:70,369,882...70,526,693
Ensembl chr18:73,629,522...73,755,351 		JBrowse link
G NFATC1 nuclear factor of activated T cells 1 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:72,948,067...73,083,180
Ensembl chr18:76,017,454...76,094,453 		JBrowse link
G PARD6G par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:73,806,710...73,904,494
Ensembl chr18:77,122,483...77,167,659 		JBrowse link
G RBFA ribosome binding factor A ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:73,679,972...73,696,321
Ensembl chr18:76,997,888...77,013,864 		JBrowse link
G SALL3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:72,381,249...72,403,789 JBrowse link
G SLC66A2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:73,549,273...73,596,658
Ensembl chr18:76,869,584...76,915,363 		JBrowse link
G 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 More... NCBI chr18:73,618,302...73,679,603
Ensembl chr18:76,937,460...76,952,428 		JBrowse link
G ZNF236 zinc finger protein 236 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:70,213,383...70,361,741
Ensembl chr18:73,496,761...73,617,956 		JBrowse link
G ZNF516 zinc finger protein 516 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:69,748,472...69,891,026
Ensembl chr18:73,026,076...73,103,609 		JBrowse link
Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, partial, with heterotaxy syndrome ClinVar PMID:12632326 PMID:24697899 PMID:28492532 NCBI chr 3:9,878,265...9,889,826 JBrowse link
patent foramen ovale term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO ClinVar Annotator: match by term: Patent foramen ovale ClinVar PMID:25741868 NCBI chr  X:143,799,088...143,825,282 JBrowse link
G 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 More... NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		JBrowse link
G RNF213 ring finger protein 213 ISO ClinVar Annotator: match by term: Patent foramen ovale ClinVar PMID:25741868 NCBI chr17:74,688,130...74,823,973
Ensembl chr17:80,421,373...80,556,570 		JBrowse link
G TBX5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type ClinVar PMID:25741868 PMID:29555671 NCBI chr12:111,954,222...112,009,261
Ensembl chr12:115,333,609...115,389,739 		JBrowse link
G 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 chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464 		JBrowse link
Persistent Truncus Arteriosus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Persistent truncus arteriosus ClinVar PMID:19666519 NCBI chr18:15,411,764...15,444,402 JBrowse link
G NKX2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Persistent truncus arteriosus ClinVar PMID:15649947 NCBI chr 8:22,949,843...22,955,391
Ensembl chr 8:19,884,480...19,888,643 		JBrowse link
G PBX1 PBX homeobox 1 ISO RGD PMID:18723445 RGD:155630610 NCBI chr 1:139,985,392...140,311,845
Ensembl chr 1:143,778,701...144,104,797 		JBrowse link
G SEMA3C semaphorin 3C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15548583 NCBI chr 7:72,706,615...72,884,163
Ensembl chr 7:86,368,753...86,545,580 		JBrowse link
Pulmonary Atresia with Ventricular Septal Defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXP1 forkhead box P1 ISO ClinVar Annotator: match by term: Pulmonary atresia with ventricular septal defect ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173 		JBrowse link
rapadilino syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RECQL4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Radial and patellar hypoplasia | ClinVar Annotator: match by term: Rapadilino syndrome OMIM
ClinVar		 PMID:9878247 PMID:10319867 PMID:10678659 PMID:12734318 PMID:12838562 More... Ensembl chr 8:144,267,101...144,276,985 JBrowse link
Ritscher-Schinzel syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC22 coiled-coil domain containing 22 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:41,535,439...41,550,547
Ensembl chr  X:49,387,980...49,402,742 		JBrowse link
G WASHC5 WASH complex subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:121,710,118...121,777,977
Ensembl chr 8:124,461,424...124,529,262 		JBrowse link
Ritscher-Schinzel syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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:41,535,439...41,550,547
Ensembl chr  X:49,387,980...49,402,742 		JBrowse link
G DPYSL5 dihydropyrimidinase like 5 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 ClinVar PMID:3812597 PMID:31474318 PMID:33894126 NCBI chr2A:26,847,309...26,949,737
Ensembl chr2A:26,987,649...27,035,748 		JBrowse link
G 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 More... NCBI chr 8:121,710,118...121,777,977
Ensembl chr 8:124,461,424...124,529,262 		JBrowse link
Ritscher-Schinzel syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr  X:41,535,439...41,550,547
Ensembl chr  X:49,387,980...49,402,742 		JBrowse link
Ritscher-Schinzel Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VPS35L VPS35 endosomal protein sorting factor like ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 3 OMIM
ClinVar		 PMID:31712251 NCBI chr16:18,611,371...18,756,113
Ensembl chr16:19,656,142...19,801,198 		JBrowse link
Ritscher-Schinzel Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr2A:26,847,309...26,949,737
Ensembl chr2A:26,987,649...27,035,748 		JBrowse link
syndromic microphthalmia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6AP2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Oculofaciocardiodental syndrome ClinVar PMID:28492532 NCBI chr  X:33,026,525...33,052,252
Ensembl chr  X:40,730,677...40,756,209 		JBrowse link
G BCOR BCL6 corepressor ISO ClinVar Annotator: match by term: BCOR-related condition | ClinVar Annotator: match by term: Oculofaciocardiodental syndrome OMIM
ClinVar		 PMID:15004558 PMID:15770227 PMID:16199547 PMID:16829040 PMID:18414213 More... NCBI chr  X:32,497,931...32,624,307
Ensembl chr  X:40,202,235...40,249,986 		JBrowse link
tetralogy of Fallot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:20022194 PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532 More... NCBI chr 1:212,245,742...212,323,387
Ensembl chr 1:217,272,597...217,321,103 		JBrowse link
G BMP10 bone morphogenetic protein 10 ISO OMIM:187500 MouseDO NCBI chr2A:68,901,944...68,912,559
Ensembl chr2A:70,023,655...70,034,420 		JBrowse link
G BMP7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr20:53,509,484...53,606,889
Ensembl chr20:54,788,974...54,885,021 		JBrowse link
G CERS1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:25741868 PMID:28492532 NCBI chr19:18,308,265...18,334,892
Ensembl chr19:19,317,173...19,342,487 		JBrowse link
G CFC1B cryptic, EGF-CFC family member 1B ISO DNA:hypermethylation:promoter: RGD PMID:24479926 RGD:155226880 NCBI chr2B:29,354,004...29,362,161 JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO OMIM:187500 MouseDO NCBI chr 6:137,134,142...137,136,550 JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:9,878,265...9,889,826 JBrowse link
G DNAH5 dynein axonemal heavy chain 5 ISO OMIM:187500 MouseDO NCBI chr 5:13,989,114...14,316,855
Ensembl chr 5:13,851,391...14,093,358 		JBrowse link
G DOCK1 dedicator of cytokinesis 1 ISO OMIM:187500 MouseDO NCBI chr10:123,485,345...124,041,337
Ensembl chr10:127,803,236...128,288,897 		JBrowse link
G EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022 		JBrowse link
G FGF8 fibroblast growth factor 8 ISO OMIM:187500 MouseDO NCBI chr10:98,372,251...98,378,811
Ensembl chr10:101,844,792...101,853,916 		JBrowse link
G FLNC filamin C ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:27908349 NCBI chr 7:120,782,584...120,811,504
Ensembl chr 7:133,307,041...133,335,896 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28991257 NCBI chr 5:175,804,728...175,852,703
Ensembl chr 5:183,115,856...183,149,006 		JBrowse link
G FOXC1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 6:1,429,051...1,433,180 JBrowse link
G FOXC2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr16:67,237,476...67,239,545 JBrowse link
G FOXH1 forkhead box H1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 8:141,240,691...141,244,381
Ensembl chr 8:144,225,933...144,232,736 		JBrowse link
G GATA4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 More... NCBI chr 8:7,442,921...7,526,731 JBrowse link
G 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 Ensembl chr20:60,148,359...60,158,886 JBrowse link
G GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:20581743 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29389947 NCBI chr18:15,411,764...15,444,402 JBrowse link
G GDF1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:25741868 PMID:28492532 NCBI chr19:18,306,513...18,334,328
Ensembl chr19:19,317,173...19,342,487 		JBrowse link
G GJA1 gap junction protein alpha 1 ISO RGD PMID:16010294 RGD:1582666 NCBI chr 6:119,213,513...119,227,617 JBrowse link
G GJA5 gap junction protein alpha 5 ISO DNA:duplications
OMIM:187500		 RGD
MouseDO		 PMID:22199024 RGD:7207464 NCBI chr 1:123,200,111...123,224,626
Ensembl chr 1:112,328,337...112,329,413 		JBrowse link
G HAND2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 4:165,755,000...165,758,735 JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 ISO OMIM:187500 MouseDO NCBI chr 6:123,527,180...123,538,794
Ensembl chr 6:127,647,547...127,659,056 		JBrowse link
G INVS inversin ISO OMIM:187500 MouseDO NCBI chr 9:71,185,345...71,395,015
Ensembl chr 9:99,329,528...99,508,260 		JBrowse link
G IRX4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 Ensembl chr 5:1,929,977...1,939,622 JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:9585603 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 More... NCBI chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383 		JBrowse link
G KDR kinase insert domain receptor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109 		JBrowse link
G LOC100977781 protein HIRA ISO mRNA,protein:decreased expression: myocardium : RGD PMID:27748330 RGD:401851914 NCBI chr22:2,087,846...2,191,192
Ensembl chr22:17,765,598...17,847,084 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 ISO OMIM:187500 MouseDO NCBI chr17:52,281,443...52,295,919
Ensembl chr17:57,137,254...57,151,328 		JBrowse link
G 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 chr14:44,969,573...45,041,296
Ensembl chr14:63,223,484...63,293,881 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: : rs1801133(human) RGD PMID:22868813 RGD:11565105 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419 		JBrowse link
G NIPBL NIPBL cohesin loading factor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr 5:73,306,527...73,491,367
Ensembl chr 5:78,585,649...78,698,184 		JBrowse link
G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 More... NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514 		JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740 		JBrowse link
G NRP1 neuropilin 1 susceptibility ISO DNA:SNP: :rs2228638(human) RGD PMID:29432830 RGD:401901152 NCBI chr10:33,298,918...33,456,466
Ensembl chr10:33,883,173...34,039,648 		JBrowse link
G NTF3 neurotrophin 3 ISO OMIM:187500 MouseDO NCBI chr12:5,551,734...5,615,981
Ensembl chr12:5,530,508...5,533,989 		JBrowse link
G PHC1 polyhomeotic homolog 1 ISO OMIM:187500 MouseDO NCBI chr12:8,999,018...9,025,900
Ensembl chr12:9,231,394...9,257,806 		JBrowse link
G 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 chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		JBrowse link
G RET ret proto-oncogene ISO ClinVar Annotator: match by term: Fallot tetralogy ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331 		JBrowse link
G 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 chr 3:78,707,802...79,876,519
Ensembl chr 3:80,581,388...81,569,308 		JBrowse link
G TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:15355425 PMID:17576681 PMID:18375573 More... NCBI chr22:2,521,080...2,541,267 JBrowse link
G TBX20 T-box transcription factor 20 ISO DNA:hypomethylation:promoter
mRNA:increased expression:heart (human)		 RGD PMID:18275040 PMID:31138201 RGD:155882584 RGD:155882585 NCBI chr 7:35,855,969...35,878,533 JBrowse link
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Fallot tetralogy ClinVar PMID:28359939 NCBI chr15:41,989,239...42,018,520
Ensembl chr15:60,286,587...60,315,530 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:14517948 PMID:20807224 PMID:24033266 PMID:24549039 PMID:24702427 More... NCBI chr 8:101,872,850...102,430,622
Ensembl chr 8:104,023,062...104,576,688 		JBrowse link
ventricular septal defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR1 activin A receptor type 1 ISO RGD PMID:22536403 RGD:329337340 NCBI chr2B:44,994,175...45,133,490
Ensembl chr2B:162,234,823...162,297,805 		JBrowse link
G 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 More... NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115 		JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:137,134,142...137,136,550 JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19337937 NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974 		JBrowse link
G EVC EvC ciliary complex subunit 1 ISO DNA:SNP::c.1727G>A(human) RGD PMID:29257216 RGD:155260289 Ensembl chr 4:5,789,316...5,894,265 JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO RGD PMID:16687131 RGD:155663670 NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:28492532 NCBI chr  X:143,799,088...143,825,282 JBrowse link
G FOXF1 forkhead box F1 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr16:67,183,416...67,188,211
Ensembl chr16:86,516,119...86,519,949 		JBrowse link
G GATA4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:7,442,921...7,526,731 JBrowse link
G GATA5 GATA binding protein 5 ISO DNA:mutation:cds:c.595C>G (p.L199V)(human) RGD PMID:22536403 PMID:22961344 RGD:155260356 RGD:329337340 Ensembl chr20:60,148,359...60,158,886 JBrowse link
G GATA6 GATA binding protein 6 ISO DNA:missense mutation:cds:p.D404Y (human)
DNA:missense mutation:cds:p.G220S (human)		 RGD PMID:22407241 PMID:23020118 RGD:13208872 RGD:13208873 NCBI chr18:15,411,764...15,444,402 JBrowse link
G IGF2 insulin like growth factor 2 treatment ISO RGD PMID:21238444 RGD:13204804 NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890 		JBrowse link
G 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 5:62,635,095...62,650,141
Ensembl chr 5:64,252,715...64,264,674 		JBrowse link
G MMP9 matrix metallopeptidase 9 severity ISO RGD PMID:21238444 RGD:13204804 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr2A:15,925,130...15,931,605 JBrowse link
G NFATC1 nuclear factor of activated T cells 1 susceptibility ISO DNA:SNPs,haplotype: :rs7240256,rs11665469,rs754505 (human)
DNA:repeats: :		 RGD PMID:21499900 PMID:23286482 RGD:243065234 RGD:268530901 NCBI chr18:72,948,067...73,083,180
Ensembl chr18:76,017,454...76,094,453 		JBrowse link
G NKX2-5 NK2 homeobox 5 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.P59A (c.175C>G) (human)		 CTD
RGD		 PMID:21165553 RGD:12914792 NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514 		JBrowse link
G NKX2-6 NK2 homeobox 6 susceptibility ISO DNA:missense mutation:CDS:p.K152Q (human) RGD PMID:25380965 RGD:155882444 NCBI chr 8:22,949,843...22,955,391
Ensembl chr 8:19,884,480...19,888,643 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr 4:2,009,276...2,119,182
Ensembl chr 4:1,945,307...2,027,425 		JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 9:48,480,607...48,943,331
Ensembl chr 9:74,745,761...75,220,502 		JBrowse link
G ROBO1 roundabout guidance receptor 1 ISO RGD PMID:25691540 RGD:243048427 NCBI chr 3:78,707,802...79,876,519
Ensembl chr 3:80,581,388...81,569,308 		JBrowse link
G ROBO2 roundabout guidance receptor 2 ISO RGD PMID:25691540 RGD:243048427 NCBI chr 3:76,013,780...77,764,156
Ensembl chr 3:79,030,223...79,632,309 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:16835904 PMID:24033266 PMID:25741868 NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327 		JBrowse link
G SALL4 spalt like transcription factor 4 ISO DNA:missense mutations:cds:p.R196W, p.S797C (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19619907 PMID:30067223 RGD:11556206 NCBI chr20:48,130,387...48,150,569
Ensembl chr20:49,254,039...49,273,589 		JBrowse link
G SLIT2 slit guidance ligand 2 ISO RGD PMID:25691540 RGD:243048427 NCBI chr 4:14,654,448...15,023,708
Ensembl chr 4:20,158,952...20,314,656 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952 		JBrowse link
G TBX1 T-box transcription factor 1 ISO DNA:SNP:promoter:g.4199C>T (human) RGD PMID:22801995 RGD:155631302 NCBI chr22:2,521,080...2,541,267 JBrowse link
G TBX20 T-box transcription factor 20 ISO DNA:hypomethylation:promoter RGD PMID:30084275 RGD:155882594 NCBI chr 7:35,855,969...35,878,533 JBrowse link
G TCF21 transcription factor 21 susceptibility ISO DNA:SNPs:3'UTR: (rs12190287) (human) RGD PMID:28346832 RGD:329337362 NCBI chr 6:131,656,582...131,662,983
Ensembl chr 6:135,754,896...135,761,294 		JBrowse link
G YES1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr18:13,513,124...13,605,379
Ensembl chr18:15,848,765...17,245,246 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO RGD PMID:25196150 RGD:155882481 NCBI chr 8:101,872,850...102,430,622
Ensembl chr 8:104,023,062...104,576,688 		JBrowse link
Ventricular Septal Defect 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:6,765,161...6,777,728
Ensembl chr20:6,546,173...6,558,610 		JBrowse link
G BMP7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr20:53,509,484...53,606,889
Ensembl chr20:54,788,974...54,885,021 		JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr 3:9,878,265...9,889,826 JBrowse link
G 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 More... NCBI chr 8:7,442,921...7,526,731 JBrowse link
G IRX4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar Ensembl chr 5:1,929,977...1,939,622 JBrowse link
Ventricular Septal Defect 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO ClinVar Annotator: match by term: Ventricular septal defect 2 OMIM
ClinVar		 PMID:16287139 PMID:25741868 NCBI chr 6:137,134,142...137,136,550 JBrowse link
Ventricular Septal Defect 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Ventricular septal defect 3 OMIM
ClinVar		 PMID:10587520 PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 More... NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      congenital heart disease 1343
        heart septal defect 211
          Aortopulmonary Septal Defect + 42
          CHOPS Syndrome 1
          Cardiac Septal Defects with Coarctation of the Aorta 0
          Endocardial Cushion Defects 0
          HEART AND BRAIN MALFORMATION SYNDROME 1
          Pulmonary Atresia with Ventricular Septal Defect 1
          atrial heart septal defect + 119
          syndromic microphthalmia 2 2
          ventricular septal defect + 154
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        Congenital Abnormalities 7497
          Cardiovascular Abnormalities 1534
            congenital heart disease 1343
              heart septal defect 211
                Aortopulmonary Septal Defect + 42
                CHOPS Syndrome 1
                Cardiac Septal Defects with Coarctation of the Aorta 0
                Endocardial Cushion Defects 0
                HEART AND BRAIN MALFORMATION SYNDROME 1
                Pulmonary Atresia with Ventricular Septal Defect 1
                atrial heart septal defect + 119
                syndromic microphthalmia 2 2
                ventricular septal defect + 154
paths to the root