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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:congenital heart disease
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Accession:DOID:1682 term browser browse the term
Definition:Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.
Synonyms:exact_synonym: Heart Abnormalities;   Heart Abnormality;   Heart, Malformation Of;   MALFORMATION OF THE HEART;   congenital anomaly of heart;   congenital heart defect;   congenital heart defects;   heart defect;   heart malformation
 narrow_synonym: ISOLATED NONSYNDROMIC CONGENITAL HEART DISEASE;   Malformation of the heart and great vessels
 primary_id: MESH:D006330
 xref: ICD10CM:Q24.9;   ICD9CM:746.9;   NCI:C34666;   NCI:C95834
For additional species annotation, visit the Alliance of Genome Resources.


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congenital heart disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23874772 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Congenital heart disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868, PMID:28288113 NCBI chr 3:10,041,820...10,145,076
Ensembl chr 3:10,041,826...10,144,388
JBrowse link
G Adam19 ADAM metallopeptidase domain 19 ISO RGD PMID:14673146 RGD:1559267 NCBI chr10:31,146,107...31,240,582
Ensembl chr10:31,146,107...31,240,582
JBrowse link
G Aff4 AF4/FMR2 family, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25730767 NCBI chr10:38,692,167...38,773,021
Ensembl chr10:38,692,211...38,773,021
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19261855 NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
JBrowse link
G Cav3 caveolin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21082655 NCBI chr 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
JBrowse link
G Cbfb core-binding factor subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17022082 NCBI chr19:37,127,508...37,171,075
Ensembl chr19:37,127,508...37,171,069
JBrowse link
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Congenital heart defects ClinVar PMID:28492532, PMID:28991257 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,789
JBrowse link
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 ISO RGD PMID:11823447 RGD:734781 NCBI chr 1:12,823,363...12,825,806
Ensembl chr 1:12,823,363...12,825,786
JBrowse link
G Cma1 chymase 1 ISO protein:increased expression:lung interstitial tissue, vasculature, mast cell (human) RGD PMID:10508822 RGD:5128660 NCBI chr15:34,601,037...34,603,819
Ensembl chr15:34,601,037...34,603,819
JBrowse link
G Dnmt1 DNA methyltransferase 1 IEP associated with Vitamin A Deficiency; mRNA:increased expression:heart: RGD PMID:23333085 RGD:9588314 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha IEP associated with Vitamin A Deficiency; mRNA:decreased expression:heart: RGD PMID:23333085 RGD:9588314 NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta IEP associated with Vitamin A Deficiency; mRNA:decreased expression:heart: RGD PMID:23333085 RGD:9588314 NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
JBrowse link
G Ece1 endothelin converting enzyme 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9449665, PMID:9915973 NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9671575 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Ednra endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9811577 NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15493068 NCBI chr 5:4,275,728...4,495,525
Ensembl chr 5:4,373,626...4,513,142
JBrowse link
G Fkbp1a FKBP prolyl isomerase 1A ISO RGD PMID:9461216 RGD:1580388 NCBI chr 3:147,042,944...147,062,725
Ensembl chr 3:147,042,944...147,062,724
JBrowse link
G Folr1 folate receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17286298 NCBI chr 1:166,934,457...166,945,864
Ensembl chr 1:166,934,460...166,943,592
JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: Heart defect ClinVar PMID:25741868, PMID:30311386 NCBI chr19:53,012,306...53,016,100
Ensembl chr19:53,012,332...53,016,086
JBrowse link
G Foxp1 forkhead box P1 ISO DNA:missense mutation, deletion:cds, exons:p.P568S (human) RGD PMID:23766104 RGD:11071913 NCBI chr 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
JBrowse link
G Gata4 GATA binding protein 4 ISO
IEP
ClinVar Annotator: match by term: Congenital heart disease
associated with Vitamin A Deficiency; DNA,mRNA,protein:hypermethylation, decreased expression:heart:
ClinVar PMID:27426723, PMID:12845333, PMID:23333085 RGD:1580390, RGD:9588314 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
JBrowse link
G Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Congenital heart disease
ClinVar Annotator: match by term: Heart defect
DNA:missense mutation:cds:p.S184N (human)
ClinVar PMID:22158542, PMID:24385578, PMID:25326637, PMID:20631719 RGD:13208832 NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
JBrowse link
G Gdf1 growth differentiation factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital heart defects
CTD
ClinVar
PMID:28492532, PMID:28991257 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,767
JBrowse link
G Gna11 G protein subunit alpha 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9687499 NCBI chr 7:11,033,400...11,047,284
Ensembl chr 7:11,033,317...11,047,437
JBrowse link
G Gnaq G protein subunit alpha q ISO CTD Direct Evidence: marker/mechanism CTD PMID:9687499 NCBI chr 1:233,382,778...233,622,584
Ensembl chr 1:233,382,708...233,622,786
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15213848 NCBI chr11:86,520,992...86,522,169
Ensembl chr11:86,520,992...86,522,169
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion, haplotype:: (human) RGD PMID:21890078 RGD:12792220 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion, haplotype:: (human) RGD PMID:21890078 RGD:12792220 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hand2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9671575 NCBI chr16:36,371,489...36,373,551
Ensembl chr16:36,371,489...36,373,546
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26073000 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Hoxa1 homeobox A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21940751 NCBI chr 4:82,124,358...82,127,182
Ensembl chr 4:82,125,406...82,127,066
JBrowse link
G Hoxa3 homeobox A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1673020 NCBI chr 4:82,137,802...82,181,836
Ensembl chr 4:82,138,683...82,141,385
JBrowse link
G Irx5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr19:16,415,813...16,421,088
Ensembl chr19:16,415,636...16,421,191
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Isolated Nonsyndromic Congenital Heart Disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9585603, PMID:10220506, PMID:10533065, PMID:11058898, PMID:11139239, PMID:12022040, PMID:12497640, PMID:16575836, PMID:19948535, PMID:20437614, PMID:21752016, PMID:22040217, PMID:23956173, PMID:24033266, PMID:25260786, PMID:25741868, PMID:26760175, PMID:28372585, PMID:28492532, PMID:30074189, PMID:12022040 RGD:1582342 NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
JBrowse link
G Klf4 Kruppel like factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20439457 NCBI chr 5:72,283,311...72,287,669
Ensembl chr 5:72,283,313...72,287,669
JBrowse link
G Maml3 mastermind-like transcriptional coactivator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23708190 NCBI chr 2:140,734,138...141,276,886 JBrowse link
G Mkks McKusick-Kaufman syndrome ISO RGD PMID:12107442 RGD:1582516 NCBI chr 3:129,866,542...129,885,213
Ensembl chr 3:129,866,545...129,884,810
JBrowse link
G Mospd3 motile sperm domain containing 3 ISO RGD PMID:15533722 RGD:1582660 NCBI chr12:22,164,978...22,169,251
Ensembl chr12:22,165,486...22,169,241
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16524890 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by synonym: Congenital heart defect
ClinVar Annotator: match by term: Congenital heart defects
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25326635, PMID:25741868, PMID:28991257 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Myh7 myosin heavy chain 7 ISO DNA:missense mutation:exon:p.R281T (c.842G>C) (human) RGD PMID:18159245 RGD:11098258 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19763162 NCBI chr 2:57,508,830...57,676,197
Ensembl chr 2:57,509,428...57,600,820
JBrowse link
G Nkx2-5 NK2 homeobox 5 no_association ISO
ISS
DNA:missense mutation, nonsense mutations: :p.Q170X, p.T178M, p.Q198X (human)
ClinVar Annotator: match by term: Heart, malformation of
ClinVar Annotator: match by term: Malformation of the heart and great vessels
ClinVar Annotator: match by term: Congenital heart disease
DNA:nonsense mutation:exon 1:p.E109X (c.325G>T) (human)
DNA:missense mutation: :p.R52G (mouse)
DNA:deletion:exon 1:c.112delG (human)
DNA:missense mutation:exon:p.E181H (human)
DNA:missense mutation: :p.A119S (human)
DNA:mutations:multiple (human)
ClinVar
MouseDO
PMID:10587520, PMID:10903346, PMID:11714651, PMID:14607454, PMID:16418214, PMID:17891434, PMID:18414213, PMID:19073351, PMID:19181906, PMID:19464101, PMID:19533775, PMID:19948535, PMID:20456451, PMID:20807224, PMID:22920929, PMID:24033266, PMID:25741868, PMID:28492532, PMID:9651244, PMID:17891520, PMID:11073884, PMID:25028484, PMID:26679770, PMID:22647876, PMID:24880466, PMID:23285148, PMID:15342699 RGD:1580253, RGD:12914796, RGD:12914789, RGD:12914788, RGD:12914787, RGD:12914786, RGD:12914776, RGD:7247738, RGD:1581132 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by synonym: Congenital heart defect
ClinVar Annotator: match by term: Congenital heart defects
ClinVar PMID:17662764, PMID:24033266, PMID:24728327, PMID:25741868, PMID:28387797, PMID:28492532, PMID:30609409 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Nphp4 nephrocystin 4 ISO DNA:missense mutations: :multiple RGD PMID:22550138 RGD:11537354 NCBI chr 5:169,647,581...169,744,662
Ensembl chr 5:169,659,188...169,744,660
JBrowse link
G Nppb natriuretic peptide B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16014188 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Pebp1 phosphatidylethanolamine binding protein 1 ISO associated with Down Syndrome;protein:decreased expression:heart RGD PMID:15063784 RGD:2302870 NCBI chr12:45,026,948...45,031,148
Ensembl chr12:45,026,886...45,031,145
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10499585 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
JBrowse link
G Pou5f1 POU class 5 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26507003 NCBI chr20:3,747,231...3,751,994
Ensembl chr20:3,747,221...3,751,994
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Congenital heart disease ClinVar PMID:28492532 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Rcan1 regulator of calcineurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15906378 NCBI chr11:32,539,689...32,620,274
Ensembl chr11:32,539,683...32,550,539
JBrowse link
G Rxra retinoid X receptor alpha ISS MouseDO NCBI chr 3:6,272,560...6,295,354
Ensembl chr 3:6,211,789...6,295,908
JBrowse link
G Sap130 Sin3A associated protein 130 ISS MouseDO NCBI chr18:24,397,523...24,497,831
Ensembl chr18:24,397,369...24,497,832
JBrowse link
G Slc29a3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20140240 NCBI chr20:30,289,527...30,327,343
Ensembl chr20:30,287,424...30,327,361
JBrowse link
G Sp4 Sp4 transcription factor ISO RGD PMID:15907824 RGD:1581309 NCBI chr 6:146,135,877...146,201,344
Ensembl chr 6:146,135,877...146,195,819
JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chr 8:62,925,364...62,944,438
Ensembl chr 8:62,925,357...62,944,437
JBrowse link
G Tbx1 T-box transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17000704 NCBI chr11:86,552,022...86,561,647
Ensembl chr11:86,552,022...86,560,969
JBrowse link
G Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by synonym: Congenital heart defect
ClinVar Annotator: match by term: Congenital heart defect
ClinVar PMID:10077612, PMID:10077762, PMID:12499378, PMID:12789647, PMID:16380715, PMID:20519243, PMID:25931334, PMID:28492532 NCBI chr12:42,059,688...42,148,226
Ensembl chr12:42,097,626...42,148,146
JBrowse link
G Tdgf1 teratocarcinoma-derived growth factor 1 ISO DNA:mutations:3'UTR,exons: RGD PMID:19853938 RGD:11561893 NCBI chr 8:119,215,266...119,220,909
Ensembl chr 8:119,215,495...119,219,232
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9217007 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Heart defect ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10024240 NCBI chr11:86,304,836...86,328,478
Ensembl chr11:86,304,815...86,328,469
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26073000, PMID:16636650 RGD:1580565 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17478475 NCBI chr 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865
JBrowse link
22q11 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12223415 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
G Six1 SIX homeobox 1 ISO RGD PMID:21364285 RGD:11561941 NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
JBrowse link
3MC syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colec10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Malpuech facial clefting syndrome ClinVar
OMIM
PMID:28301481 NCBI chr 7:93,975,451...94,035,999
Ensembl chr 7:93,975,451...94,035,999
JBrowse link
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 6:47,857,767...47,889,961
Ensembl chr 6:47,857,771...47,890,033
JBrowse link
G Masp1 mannan-binding lectin serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:80,736,424...80,806,278
Ensembl chr11:80,736,576...80,803,382
JBrowse link
Aarskog syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aarskog syndrome
ClinVar Annotator: match by term: FGDY
ClinVar Annotator: match by term: Aarskog disease
CTD
ClinVar
PMID:4146757, PMID:7954831, PMID:8969170, PMID:10930571, PMID:11093277, PMID:11940089, PMID:14560308, PMID:15327482, PMID:15809997, PMID:16353258, PMID:16688726, PMID:17152066, PMID:17847065, PMID:19110080, PMID:20082460, PMID:22211847, PMID:24307393, PMID:25741868, PMID:28492532, PMID:29276006 NCBI chr  X:20,100,942...20,143,871
Ensembl chr  X:20,216,587...20,225,955
Ensembl chr  X:20,216,587...20,225,955
JBrowse link
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: Aarskog syndrome ClinVar PMID:25741868 NCBI chr  X:20,141,406...20,146,082
Ensembl chr  X:20,144,432...20,232,639
JBrowse link
Alagille syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Alagille syndrome 1
ClinVar Annotator: match by term: Arteriohepatic dysplasia
ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:118450
DNA:insertion:exon:c.962_963insA (human)
ClinVar
CTD
OMIM
PMID:9207787, PMID:9207788, PMID:9585603, PMID:9700188, PMID:10213047, PMID:10220506, PMID:10533065, PMID:11058898, PMID:11139239, PMID:11152664, PMID:11157803, PMID:11180599, PMID:12022040, PMID:12239725, PMID:12244555, PMID:12297837, PMID:12442286, PMID:12497640, PMID:12649809, PMID:15358557, PMID:15712272, PMID:16575836, PMID:16875832, PMID:17241866, PMID:17720887, PMID:17949281, PMID:18660822, PMID:19058200, PMID:19948535, PMID:20301450, PMID:20437614, PMID:20586101, PMID:21532573, PMID:21752016, PMID:22040217, PMID:22382802, PMID:22487239, PMID:23891399, PMID:23956173, PMID:24033266, PMID:24748328, PMID:25260786, PMID:25525159, PMID:25676721, PMID:25741868, PMID:26076142, PMID:26548814, PMID:26760175, PMID:27256232, PMID:28372585, PMID:28492532, PMID:28695677, PMID:29187043, PMID:29783821, PMID:30074189, PMID:11745040, PMID:16875832, PMID:21714972 RGD:1580651, RGD:6482237, RGD:6482232 NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
JBrowse link
G Mkks McKusick-Kaufman syndrome ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047, PMID:16575836, PMID:19058200, PMID:22382802, PMID:28492532 NCBI chr 3:129,866,542...129,885,213
Ensembl chr 3:129,866,545...129,884,810
JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Alagille syndrome 2
ClinVar Annotator: match by OMIM:610205
ClinVar
OMIM
PMID:16773578, PMID:24728327, PMID:25016221, PMID:25741868, PMID:16773578 RGD:1580762 NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
JBrowse link
G Slx4ip SLX4 interacting protein ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047, PMID:16575836, PMID:19058200, PMID:22382802, PMID:28492532 NCBI chr 3:129,884,871...130,069,371
Ensembl chr 3:129,885,826...130,069,390
JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047, PMID:16575836, PMID:19058200, PMID:22382802, PMID:28492532 NCBI chr 3:129,697,408...129,788,417
Ensembl chr 3:129,599,353...129,788,400
JBrowse link
Andersen-Tawil syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Andersen Tawil syndrome
ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
ClinVar Annotator: match by term: Andersen Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:170390
OMIM
ClinVar
CTD
PMID:11371347, PMID:11841151, PMID:11861044, PMID:12045162, PMID:12086641, PMID:12148092, PMID:12163457, PMID:12689820, PMID:12796536, PMID:12909315, PMID:14522976, PMID:15757667, PMID:15831539, PMID:15851159, PMID:15852530, PMID:15911703, PMID:15922306, PMID:16217063, PMID:16419128, PMID:16533896, PMID:16541386, PMID:16571646, PMID:16818210, PMID:16834334, PMID:17074642, PMID:17074643, PMID:17119796, PMID:17211524, PMID:17221872, PMID:17324964, PMID:17341397, PMID:17399642, PMID:17399643, PMID:17568571, PMID:17582433, PMID:17655675, PMID:18313615, PMID:18452873, PMID:18554214, PMID:19041665, PMID:19111761, PMID:19201608, PMID:19570891, PMID:19931173, PMID:20382953, PMID:20647529, PMID:20713726, PMID:21493816, PMID:22002906, PMID:22186697, PMID:22286118, PMID:22581653, PMID:22589293, PMID:22806368, PMID:23516313, PMID:23595086, PMID:23631430, PMID:23644778, PMID:23867365, PMID:24025405, PMID:24033266, PMID:24047492, PMID:24211314, PMID:24383070, PMID:24561538, PMID:24721648, PMID:24861851, PMID:25284084, PMID:25410959, PMID:25415519, PMID:25741868, PMID:25847018, PMID:26230511, PMID:26322597, PMID:26467025, PMID:26937109, PMID:27145478, PMID:27920829, PMID:28003625, PMID:28024840, PMID:28341588, PMID:28492532, PMID:28501311, PMID:29017447, PMID:29874177, PMID:30311386, PMID:30516834 NCBI chr10:99,429,337...99,442,520
Ensembl chr10:99,437,436...99,439,114
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Andersen Syndrome
ClinVar Annotator: match by term: Andersen Tawil syndrome
ClinVar PMID:20560207, PMID:21311022, PMID:22203740, PMID:24574546, PMID:25741868, PMID:28492532 NCBI chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
JBrowse link
Aortic Coarctation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme IEP mRNA, protein:increased expression:myocardium (rat) RGD PMID:18419956 RGD:12859271 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Agt angiotensinogen treatment ISO DNA:polymorphism: :c.704T>C (human) RGD PMID:21450583 RGD:13432358 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Arse arylsulfatase E ISO ClinVar Annotator: match by term: Coarctation of aorta ClinVar PMID:12567415, PMID:25741868, PMID:30311386, PMID:32860008 NCBI chr 2:122,876,645...122,884,673
Ensembl chr 2:122,877,286...122,884,360
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Coarctation of aorta ClinVar PMID:30311386 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Coarctation of the aorta ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Coarctation of aorta ClinVar PMID:30311386 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Coarctation of the aorta ClinVar PMID:8259166, PMID:8737829, PMID:9024557, PMID:9653161, PMID:9683613, PMID:10677299, PMID:10807690, PMID:10814720, PMID:10995508, PMID:11161831, PMID:11175299, PMID:11241839, PMID:11427181, PMID:11562938, PMID:12794707, PMID:15286151, PMID:15464432, PMID:15776424, PMID:15952211, PMID:16761297, PMID:16906538, PMID:17965227, PMID:18285838, PMID:19365639, PMID:20635399, PMID:21777499, PMID:22438180, PMID:22975760, PMID:23042628, PMID:23293579, PMID:23918729, PMID:24033266, PMID:24824134, PMID:25108116, PMID:25741868, PMID:25807282, PMID:26467025, PMID:28166604, PMID:28492532, PMID:30311386 NCBI chr 1:217,018,916...217,034,890
Ensembl chr 1:217,018,916...217,034,904
JBrowse link
G Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Midaortic syndrome ClinVar PMID:29483232 NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Midaortic syndrome ClinVar PMID:11139247, PMID:24748328, PMID:29483232 NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Coarctation of aorta ClinVar PMID:30311386 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
JBrowse link
G Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 ISO ClinVar Annotator: match by term: Coarctation of aorta ClinVar PMID:30311386 NCBI chr10:14,259,394...14,299,276
Ensembl chr10:14,260,787...14,299,167
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:transition:cds:g.677C>T (human) RGD PMID:19764075 RGD:4891157 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Midaortic syndrome ClinVar PMID:1770531, PMID:6025371, PMID:9375928, PMID:10712197, PMID:10726756, PMID:10862084, PMID:12552569, PMID:15146469, PMID:15221447, PMID:16513807, PMID:16542390, PMID:16786042, PMID:16835897, PMID:16944272, PMID:17105749, PMID:17369502, PMID:18172006, PMID:19117870, PMID:19539839, PMID:19920235, PMID:20142468, PMID:21089071, PMID:22041710, PMID:22429592, PMID:22604720, PMID:23047742, PMID:23165953, PMID:23244495, PMID:23354915, PMID:23656349, PMID:23668869, PMID:23758643, PMID:23812910, PMID:24219125, PMID:24413922, PMID:25074460, PMID:25324428, PMID:25325900, PMID:25741868, PMID:25951773, PMID:26178382, PMID:26758488, PMID:27170677, PMID:27322474, PMID:28213670, PMID:28492532, PMID:29290338, PMID:29483232 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Rnf213 ring finger protein 213 ISO ClinVar Annotator: match by term: Midaortic syndrome ClinVar PMID:29483232 NCBI chr10:108,527,351...108,626,372
Ensembl chr10:108,527,740...108,624,688
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Coarctation of aorta ClinVar PMID:10482962, PMID:10931421, PMID:24385852, PMID:28492532, PMID:30311386 NCBI chr 8:48,716,914...48,723,024
Ensembl chr 8:48,716,939...48,723,024
JBrowse link
aortic valve disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: AORTIC VALVE DISEASE 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IEP mRNA:increased expression:aorta (rat) RGD PMID:22659116 RGD:12914785 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: AORTIC VALVE DISEASE ClinVar NCBI chr 3:175,701,278...175,709,465
Ensembl chr 3:175,701,280...175,709,465
JBrowse link
G Il6 interleukin 6 severity ISO RGD PMID:23969418 RGD:12792206 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Mgp matrix Gla protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19350115 NCBI chr 4:170,856,783...170,860,105
Ensembl chr 4:170,856,751...170,860,225
JBrowse link
G Notch1 notch receptor 1 ISO DNA:nonsense mutation, deletion:cds:p.R1108X, p.H1505Xfs (human)
ClinVar Annotator: match by term: AORTIC VALVE DISEASE 1
ClinVar Annotator: match by term: AORTIC STENOSIS, CALCIFIC
ClinVar Annotator: match by OMIM:109730
ClinVar
OMIM
PMID:16025100, PMID:16729972, PMID:18593716, PMID:24113472, PMID:24728327, PMID:25326637, PMID:25587027, PMID:25741868, PMID:26188975, PMID:26708639, PMID:26820064, PMID:27760138, PMID:28492532, PMID:29907982, PMID:16025100 RGD:1580758 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: AORTIC VALVE DISEASE 1 ClinVar PMID:28492532, PMID:30796334 NCBI chr 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108
JBrowse link
G Tbx20 T-box transcription factor 20 ISO ClinVar Annotator: match by term: AORTIC VALVE DISEASE 1 ClinVar NCBI chr 8:25,849,394...25,904,570
Ensembl chr 8:25,850,962...25,904,570
JBrowse link
Aortic Valve Disease 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: AORTIC VALVE DISEASE 3 OMIM
ClinVar
PMID:30455415 NCBI chr 8:39,082,693...39,093,344
Ensembl chr 8:39,083,327...39,093,277
JBrowse link
arrhythmogenic right ventricular cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar PMID:20890277, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:28492532 NCBI chr 4:176,806,098...176,928,540
Ensembl chr 4:176,805,431...176,922,424
JBrowse link
G Actn2 actinin alpha 2 ISO DNA:polymorphism: :
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar PMID:25741868, PMID:11078270 RGD:13506947 NCBI chr17:66,304,530...66,397,647
Ensembl chr17:66,304,501...66,397,653
JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr 4:27,195,346...27,331,582
Ensembl chr 4:27,195,346...27,331,582
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, arrhythmogenic right ventricular dysplasia ClinVar PMID:21898660, PMID:23861362, PMID:25741868, PMID:28492532, PMID:29382405 NCBI chr 1:199,941,258...199,965,191
Ensembl chr 1:199,941,161...199,965,191
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia ClinVar PMID:23861362, PMID:25447171, PMID:25661095, PMID:25741868, PMID:28492532 NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 NCBI chr17:81,673,862...82,019,219
Ensembl chr17:81,798,756...82,017,682
JBrowse link
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:17655857, PMID:23861362, PMID:28492532 NCBI chr16:19,097,391...19,124,062
Ensembl chr16:19,097,391...19,124,062
JBrowse link
G Cdh2 cadherin 2 ISO DNA:missense mutations:cds:c.686A>C(p.Q229P), c.1219G>A (p.D407N)(human)
DNA:mutation:cds:c.1219G>A(p.D407N)(human)
RGD PMID:28280076, PMID:28326674 RGD:13524622, RGD:13524623 NCBI chr18:8,146,971...8,366,037
Ensembl chr18:8,146,971...8,360,684
JBrowse link
G Des desmin ISO DNA:mutation:cds:c.1203G>C (p.E401D)(human)
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar PMID:24033266, PMID:25179549, PMID:25741868, PMID:28492532, PMID:29212896 RGD:13525009 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868, PMID:28492532 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar PMID:7971964, PMID:17033975, PMID:17186466, PMID:17963498, PMID:18382419, PMID:18678517, PMID:18957847, PMID:19863551, PMID:20031616, PMID:20031617, PMID:20197793, PMID:20400443, PMID:20716751, PMID:20829228, PMID:20857253, PMID:21062920, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21859740, PMID:23147450, PMID:23299917, PMID:23396983, PMID:23514727, PMID:23757202, PMID:23861362, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24503780, PMID:24704780, PMID:24967631, PMID:25163546, PMID:25351510, PMID:25447171, PMID:25569433, PMID:25637381, PMID:25741868, PMID:26138720, PMID:26656175, PMID:26743238, PMID:27153395, PMID:28255936, PMID:28471438, PMID:28492532, PMID:28798025, PMID:29367541, PMID:29802319, PMID:30311386, PMID:31333075, PMID:31568572 NCBI chr18:11,826,705...11,858,801
Ensembl chr18:11,826,706...11,858,754
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar PMID:2040044, PMID:16025435, PMID:16505173, PMID:16773573, PMID:16774985, PMID:17105751, PMID:17372169, PMID:18382419, PMID:18632414, PMID:18678517, PMID:18813333, PMID:19039334, PMID:19151369, PMID:19569224, PMID:19863551, PMID:20031616, PMID:20031617, PMID:20129281, PMID:20152563, PMID:20197793, PMID:20400443, PMID:20603720, PMID:20708101, PMID:20716751, PMID:20829228, PMID:20857253, PMID:20864495, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21723241, PMID:21859740, PMID:22000064, PMID:22214898, PMID:23071725, PMID:23299917, PMID:23381804, PMID:23514727, PMID:23671136, PMID:23810883, PMID:23810894, PMID:23812740, PMID:23861362, PMID:23871674, PMID:23871885, PMID:23889974, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24082139, PMID:24238504, PMID:24436435, PMID:24503780, PMID:24704780, PMID:25087486, PMID:25172079, PMID:25213555, PMID:25332820, PMID:25445213, PMID:25525159, PMID:25637381, PMID:25741868, PMID:25765472, PMID:25820315, PMID:26138720, PMID:26230511, PMID:26899768, PMID:27194543, PMID:27532257, PMID:27930701, PMID:28255936, PMID:28283360, PMID:28341588, PMID:28471438, PMID:28492532, PMID:28578331, PMID:28818065, PMID:29062102, PMID:29178656, PMID:30311386, PMID:30454721, PMID:30790397, PMID:31333075, PMID:31568572 NCBI chr18:15,579,322...15,637,720
Ensembl chr18:15,579,315...15,637,715
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia/cardiomyopathy
ClinVar PMID:10395892, PMID:10594734, PMID:11063735, PMID:15941723, PMID:16628197, PMID:16774985, PMID:16917092, PMID:18382419, PMID:18632414, PMID:19095136, PMID:19279339, PMID:19358943, PMID:19558499, PMID:19863551, PMID:19924139, PMID:20031617, PMID:20129281, PMID:20152563, PMID:20400443, PMID:20716751, PMID:20738328, PMID:20864495, PMID:21062920, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21723241, PMID:21756917, PMID:21859740, PMID:22555271, PMID:22949226, PMID:23137101, PMID:23292937, PMID:23299917, PMID:23381804, PMID:23514727, PMID:23810894, PMID:23861362, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24125834, PMID:24503780, PMID:24704780, PMID:25225338, PMID:25227139, PMID:25351510, PMID:25525159, PMID:25569433, PMID:25616645, PMID:25637381, PMID:25661095, PMID:25693453, PMID:25741868, PMID:26230511, PMID:26332594, PMID:26498160, PMID:26569459, PMID:26585738, PMID:26656175, PMID:26850880, PMID:26899768, PMID:27097650, PMID:27153395, PMID:27435932, PMID:27532257, PMID:27831900, PMID:28074886, PMID:28087426, PMID:28254189, PMID:28416588, PMID:28473349, PMID:28492532, PMID:28527814, PMID:28588093, PMID:28759816, PMID:28798025, PMID:29062697, PMID:29253866, PMID:29892087, PMID:30311386, PMID:30354334, PMID:12875771 RGD:1580890 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Fhl2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr 9:49,920,611...49,994,906
Ensembl chr 9:49,920,854...49,950,093
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO protein:altered expression:ventricle
protein:decreased expression:buccal mucosa
RGD PMID:23178689, PMID:26850880 RGD:11352402, RGD:13592599 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr 8:63,599,907...63,637,327
Ensembl chr 8:63,600,663...63,639,654
JBrowse link
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC ClinVar NCBI chr 6:109,939,323...110,016,646
Ensembl chr 6:109,939,345...110,016,644
JBrowse link
G Il6r interleukin 6 receptor ISO protein:increased expression:serum RGD PMID:21859801 RGD:10402826 NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
protein:altered expression:ventricle
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar PMID:24033266, PMID:24884844, PMID:25741868, PMID:28098346, PMID:28492532, PMID:23178689 RGD:11352402 NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar PMID:9328483, PMID:9354783, PMID:9354802, PMID:9445165, PMID:10400998, PMID:10428953, PMID:10973849, PMID:11320260, PMID:11874988, PMID:12566567, PMID:15840476, PMID:16818210, PMID:19008479, PMID:19340287, PMID:19521339, PMID:19716085, PMID:22166941, PMID:22581653, PMID:23124029, PMID:23510998, PMID:23631430, PMID:24033266, PMID:24400172, PMID:24561134, PMID:24606995, PMID:25637381, PMID:25741868, PMID:26187847, PMID:28176637, PMID:28492532 NCBI chr11:32,498,260...32,511,202
Ensembl chr11:32,498,261...32,508,420
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:15176425, PMID:16244680, PMID:22402334, PMID:22581653, PMID:25741868, PMID:28492532 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:24033266, PMID:25741868, PMID:28492532, PMID:31333075, PMID:31568572 NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:23861362, PMID:24033266, PMID:25741868 NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
JBrowse link
G Lmna lamin A/C ISO DNA:duplication:cds:c.418_438dup (human)
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar PMID:22224630, PMID:22266370, PMID:22464770, PMID:23183350, PMID:23853504, PMID:24033266, PMID:24503780, PMID:24846508, PMID:25741868, PMID:27532257, PMID:27585670, PMID:27723096, PMID:27884249, PMID:28492532, PMID:29149195, PMID:29237675, PMID:30165862, PMID:30311386, PMID:30402260, PMID:30765282, PMID:25837155 RGD:11056513 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:23861362, PMID:24033266, PMID:24093860, PMID:24793961, PMID:25031304, PMID:25351510, PMID:25741868, PMID:27247418, PMID:27532257, PMID:28492532, PMID:28640247, PMID:28771489, PMID:29875424, PMID:30297972 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:23861362, PMID:25741868, PMID:28492532, PMID:28611029 NCBI chr12:39,951,863...39,959,065
Ensembl chr12:39,951,987...39,958,239
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar NCBI chr 9:119,353,840...119,469,196
Ensembl chr 9:119,353,840...119,468,715
JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868, PMID:28492532 NCBI chr20:26,988,820...27,074,106
Ensembl chr20:26,988,774...27,074,138
JBrowse link
G Pdlim3 PDZ and LIM domain 3 ISS MouseDO NCBI chr16:49,543,140...49,574,362
Ensembl chr16:49,543,142...49,574,390
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia/cardiomyopathy
ClinVar Annotator: match by term: Right ventricular cardiomyopathy
ClinVar PMID:189621, PMID:2412583, PMID:15489853, PMID:16101641, PMID:16415378, PMID:16549640, PMID:16567567, PMID:16774985, PMID:16893920, PMID:17010805, PMID:17372169, PMID:17521752, PMID:17556197, PMID:18382419, PMID:18554203, PMID:18662195, PMID:19084810, PMID:19095136, PMID:19279339, PMID:19302745, PMID:19358943, PMID:19427443, PMID:19533476, PMID:19569224, PMID:19863551, PMID:19880068, PMID:19955750, PMID:20031616, PMID:20031617, PMID:20129281, PMID:20152563, PMID:20197793, PMID:20400443, PMID:20525856, PMID:20646679, PMID:20716751, PMID:20829228, PMID:20857253, PMID:20864495, PMID:21062920, PMID:21301620, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21822014, PMID:21859740, PMID:22019812, PMID:22035158, PMID:22036071, PMID:22177269, PMID:22214898, PMID:22781308, PMID:23137101, PMID:23178689, PMID:23270881, PMID:23299917, PMID:23347029, PMID:23514727, PMID:23671136, PMID:23810883, PMID:23810894, PMID:23812740, PMID:23861362, PMID:23871674, PMID:23871885, PMID:23889974, PMID:23911551, PMID:23973953, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24125834, PMID:24200904, PMID:24200905, PMID:24352520, PMID:24503780, PMID:24558114, PMID:24585727, PMID:24704780, PMID:24784157, PMID:24832006, PMID:24967631, PMID:25087486, PMID:25163546, PMID:25332820, PMID:25351510, PMID:25445213, PMID:25447171, PMID:25525159, PMID:25616645, PMID:25637381, PMID:25676813, PMID:25741868, PMID:25741869, PMID:25765472, PMID:25820315, PMID:25825243, PMID:25857910, PMID:25979592, PMID:26264440, PMID:26332594, PMID:26406308, PMID:26498160, PMID:26656175, PMID:26676851, PMID:26743238, PMID:26850880, PMID:27153395, PMID:27194543, PMID:27335691, PMID:27532257, PMID:27727376, PMID:28177452, PMID:28253841, PMID:28255936, PMID:28301460, PMID:28341588, PMID:28431057, PMID:28471438, PMID:28492532, PMID:28518168, PMID:28588093, PMID:28611399, PMID:28705875, PMID:28807990, PMID:29099038, PMID:29128982, PMID:29178656, PMID:29288195, PMID:29582136, PMID:29802319, PMID:29940860, PMID:29997227, PMID:30161220, PMID:30311386, PMID:30354609, PMID:30445427, PMID:30562116, PMID:30615648, PMID:30656044, PMID:30677492, PMID:30764827, PMID:30765282, PMID:30790397, PMID:31333075, PMID:31539150, PMID:31568572, PMID:31638835, PMID:31702781, PMID:16567567, PMID:15489853 RGD:1580872, RGD:1580873 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Ppp1r13l protein phosphatase 1, regulatory subunit 13 like ISS MouseDO NCBI chr 1:80,271,288...80,290,946
Ensembl chr 1:80,279,706...80,290,408
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:23396983, PMID:24033266, PMID:24503780, PMID:25741868, PMID:26498160, PMID:26656175, PMID:27296017, PMID:28492532, PMID:30775854 NCBI chr 1:274,391,932...274,589,816
Ensembl chr 1:274,391,932...274,589,816
JBrowse link
G Ryr2 ryanodine receptor 2 susceptibility ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar PMID:11159936, PMID:12093772, PMID:16769042, PMID:18326664, PMID:19709828, PMID:19926015, PMID:21315846, PMID:22677073, PMID:23757202, PMID:23861362, PMID:24025405, PMID:24033266, PMID:24447446, PMID:24558114, PMID:24981977, PMID:25351510, PMID:25467552, PMID:25637381, PMID:25741868, PMID:25925909, PMID:26112015, PMID:26189708, PMID:27650965, PMID:28087566, PMID:28404607, PMID:28492532, PMID:11159936 RGD:1599243 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia/cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
protein:altered expression:ventricle
ClinVar PMID:10973849, PMID:12354768, PMID:12820704, PMID:14523039, PMID:15466642, PMID:15840476, PMID:15840483, PMID:15851227, PMID:16325048, PMID:16414944, PMID:16540748, PMID:17161064, PMID:17210839, PMID:18071069, PMID:18361072, PMID:18452873, PMID:19412328, PMID:19841300, PMID:20129283, PMID:20403459, PMID:20539757, PMID:20875080, PMID:22373669, PMID:22378279, PMID:22581653, PMID:23008441, PMID:23098067, PMID:23503384, PMID:23631430, PMID:23805106, PMID:23861362, PMID:24033266, PMID:24653702, PMID:25163546, PMID:25351510, PMID:25741868, PMID:25829473, PMID:25904541, PMID:26066609, PMID:26159999, PMID:26209461, PMID:26467025, PMID:26633542, PMID:26749013, PMID:27041150, PMID:27287068, PMID:28069705, PMID:28265756, PMID:28492532, PMID:28781330, PMID:29032884, PMID:29574140, PMID:30084490, PMID:31333075, PMID:31568572, PMID:23178689 RGD:11352402 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Sgca sarcoglycan, alpha ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25741868, PMID:28492532 NCBI chr10:82,770,905...82,785,142
Ensembl chr10:82,770,905...82,785,142
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:17143282, PMID:17143285, PMID:17586837, PMID:20981092, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 6:3,105,443...3,182,977
Ensembl chr 6:3,104,861...3,182,996
JBrowse link
G Tax1bp3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy ClinVar PMID:25645515, PMID:25741868, PMID:32576985 NCBI chr10:59,743,356...59,748,063
Ensembl chr10:59,743,544...59,748,062
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar PMID:23861362, PMID:25637381, PMID:25741868, PMID:28492532 NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533
JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar PMID:18313022, PMID:18414213, PMID:19434073, PMID:20010364, PMID:21047201, PMID:21214875, PMID:22458570, PMID:22725725, PMID:22992668, PMID:23400628, PMID:23671136, PMID:23810883, PMID:23812740, PMID:23861362, PMID:24033266, PMID:24125834, PMID:24598986, PMID:25343256, PMID:25741868, PMID:26467025, PMID:26513349, PMID:27153395, PMID:28448657, PMID:28471438, PMID:28491673, PMID:28492532, PMID:29040414, PMID:29980933, PMID:30700137 NCBI chr 4:123,118,468...123,133,610
Ensembl chr 4:123,118,468...123,133,609
JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:23861362, PMID:24033266, PMID:24375709, PMID:25741868, PMID:28074886, PMID:28492532, PMID:30327538 NCBI chr 7:31,847,412...31,872,416
Ensembl chr 7:31,847,410...31,872,423
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar PMID:21887725, PMID:25741868, PMID:26820365, PMID:28492532, PMID:30391667 NCBI chr 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar Annotator: match by term: Right ventricular cardiomyopathy
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy
ClinVar PMID:18414213, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25016126, PMID:25589632, PMID:25741868, PMID:26467025, PMID:26498160, PMID:28492532, PMID:28750076, PMID:28857138, PMID:30311386 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Cardiomyopathy, ARVC
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia
ClinVar PMID:18414213, PMID:19434073, PMID:21047201, PMID:22992668, PMID:23400628, PMID:25741868, PMID:28448657 NCBI chr 4:123,134,457...123,161,985
Ensembl chr 4:123,134,457...123,161,985
JBrowse link
arrhythmogenic right ventricular dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:25741868 NCBI chr18:11,826,705...11,858,801
Ensembl chr18:11,826,706...11,858,754
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:17105751, PMID:18382419, PMID:18678517, PMID:19039334, PMID:19569224, PMID:20031616, PMID:20129281, PMID:20603720, PMID:20829228, PMID:20857253, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21723241, PMID:21859740, PMID:23071725, PMID:23299917, PMID:23671136, PMID:23812740, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24082139, PMID:24436435, PMID:24704780, PMID:25332820, PMID:25445213, PMID:25637381, PMID:25741868, PMID:26138720, PMID:26230511, PMID:26899768, PMID:28492532, PMID:29062102 NCBI chr18:15,579,322...15,637,720
Ensembl chr18:15,579,315...15,637,715
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:24070718, PMID:25741868, PMID:28492532 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:15519027, PMID:18533079, PMID:20414521, PMID:20624503, PMID:21415409, PMID:21835320, PMID:22765922, PMID:23233322, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24093860, PMID:25524337, PMID:25741868, PMID:25971843, PMID:26090888, PMID:27267291, PMID:28420666, PMID:28492532 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 1
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1
ClinVar PMID:25637381, PMID:25741868, PMID:28404607, PMID:28492532 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1
ClinVar Annotator: match by OMIM:107970
OMIM
ClinVar
PMID:12529708, PMID:15639475, PMID:23861362, PMID:25741868, PMID:25835445, PMID:28492532, PMID:29907982 NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 ClinVar PMID:23975875, PMID:25589632, PMID:25741868, PMID:28492532 NCBI chr 3:63,565,160...63,837,815 JBrowse link
arrhythmogenic right ventricular dysplasia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10
ClinVar Annotator: match by OMIM:610193
OMIM
ClinVar
PMID:2040044, PMID:16025435, PMID:16505173, PMID:16773573, PMID:16774985, PMID:17105751, PMID:17372169, PMID:18382419, PMID:18632414, PMID:18639457, PMID:18678517, PMID:18813333, PMID:19039334, PMID:19151369, PMID:19279339, PMID:19569224, PMID:19863551, PMID:20031616, PMID:20031617, PMID:20129281, PMID:20152563, PMID:20197793, PMID:20400443, PMID:20603720, PMID:20708101, PMID:20716751, PMID:20829228, PMID:20857253, PMID:20864495, PMID:21220045, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21723241, PMID:21859740, PMID:22000064, PMID:22036071, PMID:22214898, PMID:22458570, PMID:23071725, PMID:23178689, PMID:23299917, PMID:23381804, PMID:23396983, PMID:23514727, PMID:23671136, PMID:23810883, PMID:23810894, PMID:23812740, PMID:23861362, PMID:23871674, PMID:23871885, PMID:23889974, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24082139, PMID:24125834, PMID:24238504, PMID:24436435, PMID:24503780, PMID:24585727, PMID:24704780, PMID:25059832, PMID:25087486, PMID:25172079, PMID:25174650, PMID:25213555, PMID:25332820, PMID:25351510, PMID:25445213, PMID:25525159, PMID:25637381, PMID:25741868, PMID:25765472, PMID:25820315, PMID:25877686, PMID:26112015, PMID:26138720, PMID:26230511, PMID:26633542, PMID:26656175, PMID:26822237, PMID:26899768, PMID:27005929, PMID:27055156, PMID:27114410, PMID:27194543, PMID:27532257, PMID:27930701, PMID:28255936, PMID:28341588, PMID:28416588, PMID:28454995, PMID:28471438, PMID:28472724, PMID:28492532, PMID:28567303, PMID:28578331, PMID:28600387, PMID:28818065, PMID:29062102, PMID:29178656, PMID:29247119, PMID:29773157, PMID:29802319, PMID:30311386, PMID:30454721, PMID:30533233, PMID:30615648, PMID:30790397, PMID:30885746, PMID:30985088, PMID:30993396 NCBI chr18:15,579,322...15,637,720
Ensembl chr18:15,579,315...15,637,715
JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 ClinVar PMID:28492532 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
JBrowse link
arrhythmogenic right ventricular dysplasia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA
ClinVar Annotator: match by OMIM:610476
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair
OMIM
ClinVar
PMID:7971964, PMID:17033975, PMID:17186466, PMID:17363426, PMID:17963498, PMID:18382419, PMID:18678517, PMID:18957847, PMID:20031616, PMID:20031617, PMID:20152563, PMID:20197793, PMID:20400443, PMID:20646679, PMID:20716751, PMID:20829228, PMID:20857253, PMID:20864495, PMID:21062920, PMID:21220045, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21822014, PMID:21859740, PMID:22722193, PMID:23147450, PMID:23292937, PMID:23299917, PMID:23396983, PMID:23414727, PMID:23514727, PMID:23757202, PMID:23812740, PMID:23826350, PMID:23861362, PMID:23863954, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24503780, PMID:24704780, PMID:24967631, PMID:25163546, PMID:25351510, PMID:25390934, PMID:25447171, PMID:25516398, PMID:25569433, PMID:25637381, PMID:25741868, PMID:25819062, PMID:25820315, PMID:26138720, PMID:26498160, PMID:26656175, PMID:26780541, PMID:27000522, PMID:27153395, PMID:27532257, PMID:27884173, PMID:27930701, PMID:28153106, PMID:28255936, PMID:28471438, PMID:28492532, PMID:28600387, PMID:28798025, PMID:29032884, PMID:29178656, PMID:29367541, PMID:29802319, PMID:30311386, PMID:31333075, PMID:31568572 NCBI chr18:11,826,705...11,858,801
Ensembl chr18:11,826,706...11,858,754
JBrowse link
arrhythmogenic right ventricular dysplasia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 OMIM
ClinVar
PMID:19863551, PMID:20031617, PMID:20864495, PMID:21606396, PMID:21859740, PMID:23396983, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25351510, PMID:25616645, PMID:25741868, PMID:25765472, PMID:26073755, PMID:26220970, PMID:27532257, PMID:27662471, PMID:27930701, PMID:28341588, PMID:28492532, PMID:28831623, PMID:29247119, PMID:29334134, PMID:30311386 NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
JBrowse link
arrhythmogenic right ventricular dysplasia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnna3 catenin alpha 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 13
ClinVar Annotator: match by OMIM:615616
OMIM
ClinVar
PMID:22421363, PMID:23136403, PMID:23375656, PMID:25050139, PMID:25741868, PMID:27535533, PMID:28416588, PMID:28492532 NCBI chr20:25,063,124...26,640,428
Ensembl chr20:26,516,836...26,589,209
JBrowse link
G Lrrtm3 leucine rich repeat transmembrane neuronal 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 13 ClinVar NCBI chr20:25,990,304...26,163,656
Ensembl chr20:25,990,304...26,163,656
JBrowse link
Arrhythmogenic Right Ventricular Dysplasia 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14 OMIM
ClinVar
PMID:28280076 NCBI chr18:8,146,971...8,366,037
Ensembl chr18:8,146,971...8,360,684
JBrowse link
arrhythmogenic right ventricular dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 2
ClinVar Annotator: match by OMIM:600996
OMIM
ClinVar
PMID:1572740, PMID:8589694, PMID:11159936, PMID:11208676, PMID:12106942, PMID:15364606, PMID:15364613, PMID:15466642, PMID:15544015, PMID:16188589, PMID:16239587, PMID:16272262, PMID:16769042, PMID:17062961, PMID:17558603, PMID:17875969, PMID:18326664, PMID:18483626, PMID:18752142, PMID:19345240, PMID:19362677, PMID:19398665, PMID:19597050, PMID:19709828, PMID:19926015, PMID:21315846, PMID:21616285, PMID:21659649, PMID:21964171, PMID:22221940, PMID:22222782, PMID:22373669, PMID:22374134, PMID:22396703, PMID:22677073, PMID:22787013, PMID:22828895, PMID:23022705, PMID:23204524, PMID:23286974, PMID:23396983, PMID:23595086, PMID:23820649, PMID:23861362, PMID:23871484, PMID:24025405, PMID:24033266, PMID:24055113, PMID:24503780, PMID:24558114, PMID:24631775, PMID:24978818, PMID:24981977, PMID:25041964, PMID:25087098, PMID:25092222, PMID:25163546, PMID:25193700, PMID:25351510, PMID:25440180, PMID:25467552, PMID:25637381, PMID:25650408, PMID:25741868, PMID:25844899, PMID:25925909, PMID:26018045, PMID:26132555, PMID:26153920, PMID:26189708, PMID:26272908, PMID:26332594, PMID:26498160, PMID:26633542, PMID:26656175, PMID:26704558, PMID:26743238, PMID:26899768, PMID:27054166, PMID:27153395, PMID:27194543, PMID:27229459, PMID:27231019, PMID:27538377, PMID:27727376, PMID:27756708, PMID:27930701, PMID:28237968, PMID:28256248, PMID:28404607, PMID:28422759, PMID:28449774, PMID:28492532, PMID:29247119, PMID:29453246, PMID:29511324, PMID:29555771, PMID:30086531, PMID:30311386 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
arrhythmogenic right ventricular dysplasia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpsa ribosomal protein SA ISS OMIM:604400 MouseDO NCBI chr 8:128,806,053...128,809,987
Ensembl chr 8:128,806,129...128,809,986
JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 5
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5
OMIM
ClinVar
PMID:18313022, PMID:18414213, PMID:20010364, PMID:20435227, PMID:21214875, PMID:21391237, PMID:21636032, PMID:22458570, PMID:22725725, PMID:23161701, PMID:23178689, PMID:23555315, PMID:23671136, PMID:23810883, PMID:23812740, PMID:23861362, PMID:24033266, PMID:24125834, PMID:24598986, PMID:25214167, PMID:25343256, PMID:25351510, PMID:25676813, PMID:25741868, PMID:25820315, PMID:26467025, PMID:26513349, PMID:26743238, PMID:26840987, PMID:27153395, PMID:27532257, PMID:28301460, PMID:28471438, PMID:28491673, PMID:28492532, PMID:28750076, PMID:29040414, PMID:29247119, PMID:29980933, PMID:30206291, PMID:30700137, PMID:31333075, PMID:31568572 NCBI chr 4:123,118,468...123,133,610
Ensembl chr 4:123,118,468...123,133,609
JBrowse link
arrhythmogenic right ventricular dysplasia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8
ClinVar Annotator: match by OMIM:607450
OMIM
ClinVar
PMID:10395892, PMID:10594734, PMID:11063735, PMID:12373648, PMID:15210133, PMID:15941723, PMID:16628197, PMID:16774985, PMID:16917092, PMID:18382419, PMID:18632414, PMID:19095136, PMID:19279339, PMID:19558499, PMID:19863551, PMID:19924139, PMID:20031617, PMID:20129281, PMID:20152563, PMID:20400443, PMID:20435227, PMID:20525856, PMID:20716751, PMID:20738328, PMID:20829228, PMID:20864495, PMID:21062920, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21723241, PMID:21756917, PMID:21859740, PMID:22214898, PMID:22216297, PMID:22555271, PMID:22949226, PMID:23137101, PMID:23292937, PMID:23299917, PMID:23381804, PMID:23396983, PMID:23465283, PMID:23514727, PMID:23524727, PMID:23671136, PMID:23810894, PMID:23861362, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24125834, PMID:24448499, PMID:24503780, PMID:24704780, PMID:25163546, PMID:25196244, PMID:25225338, PMID:25227139, PMID:25351510, PMID:25447171, PMID:25525159, PMID:25550050, PMID:25569433, PMID:25616645, PMID:25637381, PMID:25661095, PMID:25676813, PMID:25691752, PMID:25693453, PMID:25741868, PMID:25820315, PMID:26073755, PMID:26138720, PMID:26230511, PMID:26314686, PMID:26332594, PMID:26383259, PMID:26399581, PMID:26498160, PMID:26569459, PMID:26585738, PMID:26604139, PMID:26656175, PMID:26743238, PMID:26833927, PMID:26850880, PMID:26899768, PMID:27097650, PMID:27153395, PMID:27329731, PMID:27332903, PMID:27435932, PMID:27532257, PMID:27707468, PMID:27831900, PMID:27884173, PMID:27930701, PMID:28074886, PMID:28087426, PMID:28152038, PMID:28254189, PMID:28255936, PMID:28301460, PMID:28341588, PMID:28416588, PMID:28442525, PMID:28473349, PMID:28492532, PMID:28527814, PMID:28588093, PMID:28759816, PMID:28798025, PMID:29062697, PMID:29420653, PMID:29511324, PMID:29750433, PMID:29759408, PMID:29915097, PMID:30286183, PMID:30311386, PMID:30354334, PMID:30382575, PMID:30820396, PMID:31333075, PMID:31568572 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
arrhythmogenic right ventricular dysplasia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Des desmin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:27066507, PMID:28492532 NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 ClinVar NCBI chr18:11,826,705...11,858,801
Ensembl chr18:11,826,706...11,858,754
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868, PMID:25820315, PMID:28492532 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Fgd4 FYVE, RhoGEF and PH domain containing 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:27066507, PMID:28492532 NCBI chr11:88,699,222...88,796,677
Ensembl chr11:88,699,222...88,796,677
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 ClinVar PMID:25741868 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:28492532 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 ClinVar NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9
ClinVar Annotator: match by OMIM:609040
OMIM
ClinVar
PMID:189621, PMID:2163603, PMID:2412583, PMID:15489853, PMID:16101641, PMID:16415378, PMID:16549640, PMID:16567567, PMID:16774985, PMID:16893920, PMID:17010805, PMID:17041889, PMID:17372169, PMID:17521752, PMID:17556197, PMID:18382419, PMID:18554203, PMID:18662195, PMID:19084810, PMID:19095136, PMID:19279339, PMID:19302745, PMID:19358943, PMID:19427443, PMID:19533476, PMID:19569224, PMID:19863551, PMID:19880068, PMID:19955750, PMID:20031616, PMID:20031617, PMID:20129281, PMID:20152563, PMID:20197793, PMID:20400443, PMID:20525856, PMID:20573160, PMID:20646679, PMID:20716751, PMID:20829228, PMID:20857253, PMID:20864495, PMID:20890277, PMID:21062920, PMID:21301620, PMID:21378009, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21822014, PMID:21859740, PMID:22019812, PMID:22035158, PMID:22036071, PMID:22170284, PMID:22177269, PMID:22214898, PMID:22781308, PMID:22889254, PMID:23137101, PMID:23178689, PMID:23270881, PMID:23299917, PMID:23347029, PMID:23354045, PMID:23396983, PMID:23486541, PMID:23514727, PMID:23671136, PMID:23810883, PMID:23810894, PMID:23812740, PMID:23861362, PMID:23863954, PMID:23871674, PMID:23871885, PMID:23889974, PMID:23911551, PMID:23962865, PMID:23973953, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24125834, PMID:24200904, PMID:24200905, PMID:24352520, PMID:24503780, PMID:24558114, PMID:24585727, PMID:24632794, PMID:24704780, PMID:24784157, PMID:24832006, PMID:24967631, PMID:24981977, PMID:25087486, PMID:25157032, PMID:25163546, PMID:25196244, PMID:25326635, PMID:25332820, PMID:25351510, PMID:25395996, PMID:25445213, PMID:25447171, PMID:25525159, PMID:25616645, PMID:25637381, PMID:25650408, PMID:25676813, PMID:25741868, PMID:25741869, PMID:25765472, PMID:25820315, PMID:25825243, PMID:25857910, PMID:25979592, PMID:25998140, PMID:26220970, PMID:26230511, PMID:26264440, PMID:26332594, PMID:26406308, PMID:26498160, PMID:26656175, PMID:26676851, PMID:26701096, PMID:26743238, PMID:26850880, PMID:26887364, PMID:27000522, PMID:27005929, PMID:27030002, PMID:27066507, PMID:27085656, PMID:27114410, PMID:27122407, PMID:27153395, PMID:27335691, PMID:27532257, PMID:27711072, PMID:27727376, PMID:27930701, PMID:28069705, PMID:28166282, PMID:28166811, PMID:28177452, PMID:28253841, PMID:28255936, PMID:28301460, PMID:28341588, PMID:28359509, PMID:28416588, PMID:28431057, PMID:28471438, PMID:28492532, PMID:28518168, PMID:28588093, PMID:28600387, PMID:28611399, PMID:28705875, PMID:28807990, PMID:29038103, PMID:29099038, PMID:29128982, PMID:29178656, PMID:29247119, PMID:29288195, PMID:29497013, PMID:29511324, PMID:29540472, PMID:29582136, PMID:29802319, PMID:29940860, PMID:29997227, PMID:30161220, PMID:30279520, PMID:30311386, PMID:30354609, PMID:30445427, PMID:30562116, PMID:30615648, PMID:30656044, PMID:30662450, PMID:30677492, PMID:30764827, PMID:30765282, PMID:30790397, PMID:30821013, PMID:31333075, PMID:31539150, PMID:31568572, PMID:31702781 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 ClinVar PMID:14519435, PMID:24033266, PMID:24503780, PMID:25741868, PMID:27532257, PMID:28492532 NCBI chr 4:6,559,153...6,799,888
Ensembl chr 4:6,559,545...6,799,632
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9
ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:26467025, PMID:26567375, PMID:28492532 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:27066507, PMID:28492532 NCBI chr11:88,882,615...88,888,377
Ensembl chr11:88,882,616...88,888,377
JBrowse link
atrial heart septal defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:9466990, PMID:9666097, PMID:9973280, PMID:10413692, PMID:10958763, PMID:11702214, PMID:12192456, PMID:12796258, PMID:16303926, PMID:18285826, PMID:18854780, PMID:19074458, PMID:24033266, PMID:24265693, PMID:26872967, PMID:28041643, PMID:28118664, PMID:28492532, PMID:29162642, PMID:29555955, PMID:29854428, PMID:30311386, PMID:30718709, PMID:31576780 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868, PMID:30311386 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Actc1 actin, alpha, cardiac muscle 1 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar NCBI chr 3:105,507,403...105,512,939
Ensembl chr 3:105,507,403...105,512,939
JBrowse link
G Bmp4 bone morphogenetic protein 4 susceptibility ISO DNA:SNP: :rs762642(human) RGD PMID:25022354 RGD:13442496 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr 1:82,112,449...82,120,902
Ensembl chr 1:82,112,449...82,120,902
JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:10094191, PMID:12697994, PMID:28492532, PMID:30311386 NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868, PMID:30311386 NCBI chr19:53,012,306...53,016,100
Ensembl chr19:53,012,332...53,016,086
JBrowse link
G Gata4 GATA binding protein 4 ISO DNA:missense mutation: :p.G21V (human)
ClinVar Annotator: match by term: Atrial septal defect
ClinVar PMID:25741868, PMID:21373748 RGD:7207050 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr  X:72,163,777...72,370,058
Ensembl chr  X:72,163,777...72,370,044
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:30311386 NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
JBrowse link
G Klf1 Kruppel like factor 1 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:30311386 NCBI chr19:26,016,289...26,019,557
Ensembl chr19:26,016,382...26,019,553
JBrowse link
G Mn1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868, PMID:31834374 NCBI chr12:51,214,192...51,250,230
Ensembl chr12:51,214,192...51,250,230
JBrowse link
G Myh6 myosin heavy chain 6 ISO DNA:missense mutation:p.I820N (human)
ClinVar Annotator: match by term: Atrial septal defect
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15735645, PMID:24033266, PMID:25741868, PMID:28416588, PMID:28492532, PMID:15735645 RGD:1580922 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:21055718, PMID:24033266, PMID:28492532, PMID:29543232 NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO DNA:frameshift mutation, missense mutations: :p.P43Gfs*59, p.C46W, p.S179F (human)
ClinVar Annotator: match by term: Atrial septal defect
DNA:frameshift mutation:exon:p.G206Fs*231 (human)
ClinVar PMID:18414213, PMID:18976153, PMID:19181906, PMID:19464101, PMID:20981092, PMID:22995991, PMID:24033266, PMID:24376681, PMID:25741868, PMID:28492532, PMID:21188375, PMID:25742962 RGD:12914794, RGD:12914795 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16740914 NCBI chr  X:15,448,570...15,453,130
Ensembl chr  X:15,348,138...15,453,130
JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:30311386 NCBI chr 5:171,662,277...171,711,561
Ensembl chr 5:171,662,277...171,710,316
JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:20400964, PMID:21990120, PMID:24800917, PMID:25741868, PMID:26261251, PMID:28492532, PMID:30311386 NCBI chr10:74,697,713...74,724,004
Ensembl chr10:74,697,716...74,724,472
JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:1760348, PMID:10064593, PMID:16523510, PMID:17603482, PMID:17603483, PMID:19437094, PMID:19568997, PMID:19953625, PMID:20052757, PMID:20876176, PMID:21396583, PMID:21440552, PMID:21784453, PMID:22389993, PMID:22826437, PMID:23312806, PMID:23321623, PMID:23613113, PMID:23877478, PMID:24033266, PMID:24775816, PMID:24777450, PMID:25706034, PMID:25741868, PMID:26446362, PMID:26619011, PMID:26903553, PMID:28492532, PMID:29084544, PMID:29493581, PMID:30311386 NCBI chr 4:147,532,040...147,592,769
Ensembl chr 4:147,532,042...147,592,699
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:28492532, PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr18:75,090,733...75,432,446
Ensembl chr18:75,095,632...75,207,306
JBrowse link
G Slc26a3 solute carrier family 26 member 3 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:9718329, PMID:18216024, PMID:21332001, PMID:30311386 NCBI chr 6:50,725,085...50,766,306
Ensembl chr 6:50,725,085...50,766,300
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 NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
JBrowse link
G Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:11799392, PMID:15880370, PMID:16840568, PMID:17089404, PMID:18805831, PMID:19127206, PMID:21914180, PMID:22998683, PMID:24589093, PMID:25741868, PMID:26499378, PMID:28492532, PMID:28796785, PMID:30311386 NCBI chr 9:79,943,775...79,990,230
Ensembl chr 9:79,944,132...79,990,229
JBrowse link
G Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar NCBI chr12:42,059,688...42,148,226
Ensembl chr12:42,097,626...42,148,146
JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:30311386 NCBI chr15:108,908,366...108,913,812
Ensembl chr15:108,908,607...108,912,737
JBrowse link
atrial heart septal defect 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 ISO ClinVar Annotator: match by term: ASD II ClinVar PMID:9806540, PMID:12370274, PMID:14672610, PMID:15791618, PMID:17855769, PMID:18395098, PMID:19101985, PMID:25847299, PMID:26019043, PMID:26678486, PMID:28492532, PMID:30311386 NCBI chr 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946
JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 ISO ClinVar Annotator: match by term: ASD II ClinVar PMID:30311386 NCBI chr 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Ccn1 cellular communication network factor 1 ISS OMIM:108800 MouseDO NCBI chr 2:251,529,354...251,532,312
Ensembl chr 2:251,529,354...251,532,312
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: ASD II ClinVar PMID:30311386 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Ntf3 neurotrophin 3 ISS OMIM:108800 MouseDO NCBI chr 4:158,636,883...158,705,886
Ensembl chr 4:158,636,884...158,705,886
JBrowse link
G Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Atrial septal defect 1
ClinVar Annotator: match by term: ASD II
ClinVar PMID:25741868, PMID:29555671 NCBI chr12:42,059,688...42,148,226
Ensembl chr12:42,097,626...42,148,146
JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Atrial septal defect 1 ClinVar PMID:28359939 NCBI chr 8:72,814,737...72,841,496
Ensembl chr 8:72,814,740...72,842,228
JBrowse link
G Wdr26 WD repeat domain 26 ISO ClinVar Annotator: match by term: ASD II ClinVar PMID:30311386 NCBI chr13:99,493,117...99,532,775
Ensembl chr13:99,493,120...99,531,959
JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by term: ASD II ClinVar PMID:30311386 NCBI chr 7:79,471,277...79,964,405
Ensembl chr 7:79,638,046...79,964,405
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
ClinVar Annotator: match by OMIM:607941
OMIM
ClinVar
PMID:12845333, PMID:15810002, PMID:17643447, PMID:18055909, PMID:18076106, PMID:18672102, PMID:19302747, PMID:19678963, PMID:20347099, PMID:20659440, PMID:20854389, PMID:20874241, PMID:20981092, PMID:21110066, PMID:21519287, PMID:24033266, PMID:25741868, PMID:26490186, PMID:26997702, PMID:27374936, PMID:27535533, PMID:28132688, PMID:28492532, PMID:29377543 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
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
ClinVar Annotator: match by OMIM:614089
OMIM
ClinVar
PMID:15735645, PMID:20656787, PMID:22011241, PMID:23396983, PMID:24033266, PMID:24082139, PMID:24503780, PMID:25163546, PMID:25351510, PMID:25741868, PMID:26656175, PMID:27789736, PMID:28416588, PMID:28492532, PMID:28600387, PMID:28771489, PMID:28797094, PMID:28991257 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
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 OMIM:611363
OMIM
ClinVar
PMID:17668378, PMID:18834961, PMID:19762328, PMID:25741868, PMID:25834824, PMID:26118961, PMID:27510170, PMID:28492532, PMID:30311386 NCBI chr 8:25,849,394...25,904,570
Ensembl chr 8:25,850,962...25,904,570
JBrowse link
atrial heart septal defect 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actc1 actin, alpha, cardiac muscle 1 ISO ClinVar Annotator: match by term: Atrial septal defect 5
ClinVar Annotator: match by OMIM:612794
OMIM
ClinVar
PMID:17947298, PMID:22555271, PMID:23054336, PMID:24033266, PMID:25741868, PMID:27532257, PMID:28138913, PMID:28492532 NCBI chr 3:105,507,403...105,512,939
Ensembl chr 3:105,507,403...105,512,939
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 OMIM:613087
OMIM
ClinVar
PMID:18830233, PMID:25741868 NCBI chr16:27,399,467...27,597,240
Ensembl chr16:27,399,467...27,597,240
JBrowse link
atrial heart septal defect 7 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: ASD WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ClinVar Annotator: match by term: Atrial septal defect 7 with or without atrioventricular conduction defects
ClinVar Annotator: match by OMIM:108900
OMIM
ClinVar
PMID:1260978, PMID:9651244, PMID:10021345, PMID:10587520, PMID:10903346, PMID:10943630, PMID:10948187, PMID:11714651, PMID:12414819, PMID:12798584, PMID:13050604, PMID:14607454, PMID:15342699, PMID:15689439, PMID:15810002, PMID:15917268, PMID:16418214, PMID:16896344, PMID:17891434, PMID:18414213, PMID:18976153, PMID:19073351, PMID:19181906, PMID:19464101, PMID:19533775, PMID:19678963, PMID:19933292, PMID:19948535, PMID:20022124, PMID:20456451, PMID:20659440, PMID:20725931, PMID:20807224, PMID:20981092, PMID:21091212, PMID:21110066, PMID:21165553, PMID:21450989, PMID:21561848, PMID:21677783, PMID:22498567, PMID:22920929, PMID:22995991, PMID:23285148, PMID:23661673, PMID:24033266, PMID:24376681, PMID:24880466, PMID:25205790, PMID:25319568, PMID:25741868, PMID:25742962, PMID:26014430, PMID:26421664, PMID:26679770, PMID:27013732, PMID:28492532, PMID:29037160, PMID:30240412, PMID:30611920 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
atrial heart septal defect 8 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: Atrial septal defect 8
ClinVar Annotator: match by OMIM:614433
OMIM
ClinVar
PMID:16287139, PMID:25741868 NCBI chr 1:12,823,363...12,825,806
Ensembl chr 1:12,823,363...12,825,786
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:28492532 NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
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 Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:10587520, PMID:10903346, PMID:11714651, PMID:14607454, PMID:16418214, PMID:17891434, PMID:18414213, PMID:18976153, PMID:19073351, PMID:19181906, PMID:19464101, PMID:19533775, PMID:19678963, PMID:19933292, PMID:19948535, PMID:20022124, PMID:20456451, PMID:20725931, PMID:20807224, PMID:20981092, PMID:21091212, PMID:22995991, PMID:23285148, PMID:23661673, PMID:24033266, PMID:24376681, PMID:25741868, PMID:25742962, PMID:28492532, PMID:29037160, PMID:30611920 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
atrioventricular septal defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect ClinVar PMID:12920096, PMID:22773737, PMID:27659767, PMID:30259503, PMID:30311386, PMID:30614526 NCBI chr 1:220,146,084...220,165,545
Ensembl chr 1:220,147,327...220,165,678
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Ccdc40 coiled-coil domain containing 40 ISO ClinVar Annotator: match by term: Atrioventricular septal defect ClinVar PMID:30311386 NCBI chr10:108,055,270...108,393,408
Ensembl chr10:108,340,240...108,372,862
JBrowse link
G Ccn1 cellular communication network factor 1 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 2:251,529,354...251,532,312
Ensembl chr 2:251,529,354...251,532,312
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Atrioventricular septal defect ClinVar PMID:25741868 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Atrioventricular septal defect ClinVar PMID:25741868, PMID:28492532 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: ENDOCARDIAL CUSHION DEFECT ClinVar PMID:25741868 NCBI chr 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
JBrowse link
G Gata6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Ift172 intraflagellar transport 172 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 6:26,390,686...26,485,459 JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, somatic ClinVar PMID:15342699, PMID:15917268 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
G Nr1d2 nuclear receptor subfamily 1, group D, member 2 ISS
ISO
OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474
ClinVar Annotator: match by term: Atrioventricular septal defect
MouseDO
ClinVar
PMID:27058611 NCBI chr15:8,730,871...8,757,165
Ensembl chr15:8,730,871...8,757,165
JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:19538633 RGD:12801428 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect ClinVar PMID:11799392, PMID:15880370, PMID:16840568, PMID:17089404, PMID:18805831, PMID:19127206, PMID:21914180, PMID:22998683, PMID:24589093, PMID:25741868, PMID:26499378, PMID:28492532, PMID:28796785, PMID:30311386 NCBI chr 9:79,943,775...79,990,230
Ensembl chr 9:79,944,132...79,990,229
JBrowse link
G Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect ClinVar PMID:25741868 NCBI chr12:42,059,688...42,148,226
Ensembl chr12:42,097,626...42,148,146
JBrowse link
G Zdhhc24 zinc finger, DHHC-type containing 24 ISO ClinVar Annotator: match by term: Atrioventricular septal defect ClinVar PMID:12920096, PMID:22773737, PMID:27659767, PMID:30259503, PMID:30311386, PMID:30614526 NCBI chr 1:220,137,280...220,143,387
Ensembl chr 1:220,137,257...220,144,319
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 2 ClinVar PMID:28492532 NCBI chr 4:145,330,457...145,340,985
Ensembl chr 4:145,330,457...145,340,984
JBrowse link
G Brpf1 bromodomain and PHD finger containing, 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,264,445...145,280,943
Ensembl chr 4:145,264,462...145,280,857
JBrowse link
G Camk1 calcium/calmodulin-dependent protein kinase I ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,289,300...145,300,146
Ensembl chr 4:145,288,996...145,300,177
JBrowse link
G Cidec cell death-inducing DFFA-like effector c ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,377,482...145,390,497
Ensembl chr 4:145,377,431...145,390,497
JBrowse link
G Cpne9 copine family member 9 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,238,011...145,262,444
Ensembl chr 4:145,238,947...145,262,442
JBrowse link
G Creld1 cysteine-rich with EGF-like domains 1 susceptibility ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar
OMIM
PMID:11376440, PMID:12632326, PMID:15857420, PMID:17036335, PMID:23040494, PMID:24697899, PMID:25741868, PMID:28492532 NCBI chr 4:145,440,284...145,449,894
Ensembl chr 4:145,440,114...145,449,892
JBrowse link
G Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,426,647...145,439,845
Ensembl chr 4:145,427,367...145,439,843
JBrowse link
G Il17re interleukin 17 receptor E ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,413,157...145,426,608
Ensembl chr 4:145,413,230...145,426,603
JBrowse link
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,399,885...145,404,605
Ensembl chr 4:145,399,913...145,404,617
JBrowse link
G Mtmr14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,195,046...145,238,097
Ensembl chr 4:145,195,070...145,238,097
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
JBrowse link
G Rpusd3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,361,937...145,370,992
Ensembl chr 4:145,366,765...145,370,992
JBrowse link
G Tada3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,318,417...145,330,291
Ensembl chr 4:145,318,435...145,329,878
JBrowse link
G Ttll3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,341,059...145,366,614
Ensembl chr 4:145,342,193...145,365,496
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 OMIM
ClinVar
PMID:11470490, PMID:22090377, PMID:28492532 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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:8455608, PMID:9312027, PMID:12845333, PMID:12939651, PMID:15235040, PMID:17352393, PMID:17592645, PMID:17643447, PMID:18055909, PMID:18076106, PMID:18393291, PMID:18672102, PMID:19302747, PMID:19353638, PMID:19678963, PMID:20659440, PMID:20854389, PMID:20874241, PMID:20981092, PMID:21055141, PMID:21110066, PMID:21373748, PMID:21519287, PMID:21637475, PMID:21834050, PMID:21933911, PMID:22011241, PMID:22318994, PMID:22498567, PMID:22500510, PMID:23239632, PMID:23404914, PMID:23626780, PMID:23696316, PMID:24033266, PMID:24041700, PMID:24127225, PMID:24366163, PMID:25017055, PMID:25205790, PMID:25516202, PMID:25741868, PMID:26014430, PMID:26376067, PMID:26490186, PMID:26997702, PMID:27130165, PMID:27139165, PMID:27374936, PMID:27535533, PMID:27899157, PMID:28132688, PMID:28161810, PMID:28492532, PMID:28798025, PMID:29368431, PMID:29377543 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
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:18414213, PMID:20581743, PMID:20631719, PMID:22158542, PMID:23223019, PMID:24310933, PMID:25741868, PMID:27756709, PMID:28381408, PMID:28492532 NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
JBrowse link
Au-Kline Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpk heterogeneous nuclear ribonucleoprotein K ISO ClinVar Annotator: match by term: AU-KLINE SYNDROME OMIM
ClinVar
PMID:8833161, PMID:9218800, PMID:9234727, PMID:10523673, PMID:10817758, PMID:10995551, PMID:11574481, PMID:11867641, PMID:11891683, PMID:12183465, PMID:12853611, PMID:15170860, PMID:15284851, PMID:15364910, PMID:16488668, PMID:18054780, PMID:18414213, PMID:19170760, PMID:19348700, PMID:19854944, PMID:20116073, PMID:21800092, PMID:22102872, PMID:23455423, PMID:24253303, PMID:24288371, PMID:24501764, PMID:24990929, PMID:25741868, PMID:26173930, PMID:26220823, PMID:26954065, PMID:28374925, PMID:28771707, PMID:29904177, PMID:30998304 NCBI chr17:6,664,730...6,676,753
Ensembl chr17:6,665,659...6,676,654
JBrowse link
Barth syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Barth syndrome
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar PMID:11238270, PMID:15793838, PMID:19396829, PMID:24033266, PMID:25741868, PMID:28492532, PMID:31333075, PMID:31568572 NCBI chr  X:156,429,521...156,438,066
Ensembl chr  X:156,429,585...156,438,066
JBrowse link
G Fkbp1a FKBP prolyl isomerase 1A ISS OMIM:302060 MouseDO NCBI chr 3:147,042,944...147,062,725
Ensembl chr 3:147,042,944...147,062,724
JBrowse link
G Mest mesoderm specific transcript ISS OMIM:302060 MouseDO NCBI chr 4:58,052,786...58,063,227
Ensembl chr 4:58,053,041...58,063,138
JBrowse link
G Taz tafazzin ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria
ClinVar Annotator: match by term: Barth syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:302060
OMIM
ClinVar
CTD
PMID:1719174, PMID:1998334, PMID:4685904, PMID:7616547, PMID:8042670, PMID:8434619, PMID:8630491, PMID:9332651, PMID:9345098, PMID:9382096, PMID:9382097, PMID:11238270, PMID:11735032, PMID:12032589, PMID:12468278, PMID:12930833, PMID:15098233, PMID:15793838, PMID:16385454, PMID:16427346, PMID:16548007, PMID:16873891, PMID:16880272, PMID:17394203, PMID:18430085, PMID:19396829, PMID:19438153, PMID:19619503, PMID:19648820, PMID:19700766, PMID:20530761, PMID:20812380, PMID:21300850, PMID:22382802, PMID:23361305, PMID:23409742, PMID:23656970, PMID:24033266, PMID:24342716, PMID:24887148, PMID:25185984, PMID:25741868, PMID:25941633, PMID:26350513, PMID:26724946, PMID:26845103, PMID:28123175, PMID:28183324, PMID:28492532, PMID:29077208, PMID:29089047, PMID:29247119, PMID:31333075, PMID:31568572 NCBI chr  X:156,421,006...156,429,461
Ensembl chr  X:156,421,009...156,428,593
JBrowse link
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thoc6 THO complex 6 ISO ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome
ClinVar Annotator: match by OMIM:613680
OMIM
ClinVar
PMID:11060033, PMID:15998806, PMID:18414213, PMID:19059247, PMID:20503307, PMID:23621916, PMID:25741868, PMID:26739162, PMID:27102954, PMID:27295358, PMID:30238602, PMID:30476144 NCBI chr10:12,989,135...12,994,495
Ensembl chr10:12,989,135...12,994,495
JBrowse link
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dusp29 dual specificity phosphatase 29 ISO ClinVar Annotator: match by term: Young Simpson syndrome ClinVar PMID:8055130, PMID:18798845, PMID:21344633, PMID:22077973, PMID:23436491, PMID:25326637, PMID:25741868, PMID:27696664 NCBI chr15:2,766,929...2,806,573
Ensembl chr15:2,766,710...2,806,536
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type
ClinVar Annotator: match by term: Young Simpson syndrome
ClinVar Annotator: match by OMIM:603736
ClinVar
OMIM
PMID:8055130, PMID:18798845, PMID:21344633, PMID:22077973, PMID:23436491, PMID:25326637, PMID:25424711, PMID:25741868, PMID:26334766, PMID:26938784, PMID:27696664, PMID:28758091, PMID:30353918, PMID:22077973 RGD:9588484 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
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 chr18:76,637,415...76,661,186
Ensembl chr18:76,637,785...76,653,056
JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:77,343,551...77,535,608
Ensembl chr18:77,343,551...77,535,593
JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,922,913...76,985,095
Ensembl chr18:76,922,934...76,984,203
JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,243,009...79,258,570
Ensembl chr18:79,243,009...79,258,570
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 chr18:76,748,067...76,754,642
Ensembl chr18:76,748,067...76,753,902
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 chr18:76,808,294...76,880,742
Ensembl chr18:76,809,144...76,878,981
JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
JBrowse link
G Nfatc1 nuclear factor of activated T-cells 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:77,203,517...77,322,690
Ensembl chr18:77,203,525...77,322,690
JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,559,877...76,627,843
Ensembl chr18:76,559,811...76,628,041
JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,704,223...76,714,387
Ensembl chr18:76,704,220...76,714,486
JBrowse link
G Sall3 spalt-like transcription factor 3 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:77,572,200...77,591,710
Ensembl chr18:77,573,702...77,579,969
JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,768,466...76,805,773
Ensembl chr18:76,770,012...76,805,766
JBrowse link
G Txnl4a thioredoxin-like 4A ISO ClinVar Annotator: match by term: Burn-Mckeown syndrome
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
OMIM
PMID:1342861, PMID:14564154, PMID:16523509, PMID:25434003 NCBI chr18:76,725,221...76,740,673
Ensembl chr18:76,725,247...76,740,688
JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,447,384...79,543,271
Ensembl chr18:79,451,204...79,543,219
JBrowse link
G Zfp516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,768,387...79,857,909
Ensembl chr18:79,773,608...79,854,192
JBrowse link
Cardiac-Urogenital Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: CARDIAC-UROGENITAL SYNDROME OMIM
ClinVar
PMID:25741868, PMID:29446546, PMID:30070761, PMID:30532227 NCBI chr 1:226,260,558...226,292,650
Ensembl chr 1:226,260,558...226,292,480
JBrowse link
cardiofaciocutaneous syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO DNA:mutations:cds:multiple(human)
ClinVar Annotator: match by term: CFC syndrome
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1
DNA:mutation:cds:p.Q241R(mouse)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:115150
ClinVar
CTD
PMID:4386970, PMID:5771505, PMID:8042262, PMID:12068308, PMID:12198537, PMID:12438234, PMID:12447372, PMID:12460918, PMID:12460919, PMID:12619120, PMID:12644542, PMID:12670889, PMID:12692057, PMID:12794760, PMID:12960123, PMID:14513361, PMID:14602780, PMID:14678966, PMID:14679157, PMID:15001635, PMID:15035987, PMID:15126572, PMID:15181070, PMID:15342696, PMID:15356022, PMID:15386408, PMID:15687339, PMID:15998781, PMID:16015629, PMID:16174717, PMID:16187918, PMID:16372351, PMID:16439621, PMID:16474404, PMID:16523510, PMID:16772349, PMID:16804887, PMID:16825433, PMID:17366577, PMID:17374713, PMID:17483702, PMID:17488796, PMID:17496923, PMID:17551924, PMID:17603483, PMID:17703371, PMID:17704260, PMID:17785355, PMID:18039235, PMID:18042262, PMID:18060073, PMID:18186519, PMID:18398503, PMID:18413255, PMID:18451217, PMID:18456719, PMID:18470943, PMID:18794803, PMID:18854871, PMID:18953432, PMID:19001320, PMID:19010912, PMID:19018267, PMID:19206169, PMID:19238210, PMID:19376813, PMID:19404918, PMID:19416762, PMID:19537845, PMID:19561230, PMID:19735675, PMID:20008640, PMID:20141835, PMID:20186801, PMID:20350999, PMID:20395089, PMID:20413299, PMID:20523244, PMID:20619739, PMID:20630094, PMID:20735442, PMID:20818844, PMID:20823850, PMID:20857202, PMID:21063443, PMID:21107320, PMID:21107323, PMID:21129611, PMID:21156289, PMID:21163703, PMID:21426297, PMID:21483012, PMID:21502544, PMID:21639808, PMID:21641636, PMID:21683865, PMID:21784453, PMID:21871821, PMID:21975775, PMID:22038996, PMID:22048237, PMID:22113612, PMID:22180495, PMID:22190897, PMID:22281684, PMID:22301711, PMID:22310681, PMID:22351686, PMID:22356324, PMID:22389471, PMID:22448344, PMID:22495831, PMID:22536370, PMID:22586120, PMID:22608338, PMID:22649091, PMID:22663011, PMID:22735384, PMID:22743296, PMID:22773810, PMID:22805292, PMID:22876591, PMID:22972589, PMID:22997239, PMID:23020132, PMID:23031422, PMID:23093928, PMID:23251002, PMID:23273605, PMID:23302800, PMID:23312806, PMID:23325582, PMID:23470635, PMID:23524406, PMID:23549875, PMID:23614898, PMID:23680146, PMID:23685455, PMID:23763990, PMID:23812671, PMID:23833300, PMID:23845441, PMID:23875798, PMID:23907581, PMID:23918947, PMID:24033266, PMID:24037001, PMID:24088041, PMID:24107445, PMID:24112392, PMID:24163374, PMID:24388723, PMID:24409384, PMID:24508103, PMID:24512911, PMID:24576830, PMID:24583796, PMID:24586605, PMID:24594804, PMID:24670642, PMID:24717435, PMID:24719372, PMID:24775816, PMID:24918823, PMID:25024077, PMID:25035421, PMID:25037139, PMID:25079330, PMID:25155755, PMID:25157968, PMID:25265492, PMID:25265494, PMID:25348715, PMID:25370471, PMID:25399551, PMID:25463315, PMID:25741868, PMID:25950823, PMID:25989278, PMID:26619011, PMID:26633545, PMID:26678033, PMID:27404270, PMID:27478040, PMID:27480103, PMID:27521173, PMID:28404629, PMID:28492532, PMID:28524057, PMID:28854169, PMID:28891408, PMID:28911804, PMID:29084544, PMID:29493581, PMID:29925953, PMID:30290804, PMID:30311386, PMID:30820351, PMID:31474318, PMID:31779674, PMID:31891627, PMID:16474404, PMID:25035421, PMID:21383153 RGD:1600471, RGD:11352608, RGD:11567236 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17703371 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO DNA:missense mutations:CDS:p.G60R, p.D153V (human)
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16474404, PMID:17056636, PMID:17703371, PMID:20186801, PMID:20949621, PMID:21797849, PMID:23059812, PMID:24033266, PMID:26242988, PMID:28492532, PMID:28650561, PMID:16474404 RGD:1600471 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: CARDIOFACIOCUTANEOUS SYNDROME 1
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
ClinVar Annotator: match by term: CFC syndrome
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1804226, PMID:12239713, PMID:12529707, PMID:16439621, PMID:16474404, PMID:17366577, PMID:17551924, PMID:17567882, PMID:17703371, PMID:17704260, PMID:17981815, PMID:18039235, PMID:18042262, PMID:18060073, PMID:18413255, PMID:18632602, PMID:18854871, PMID:19156172, PMID:19376813, PMID:19411838, PMID:19915144, PMID:20354455, PMID:20958325, PMID:21062266, PMID:21107320, PMID:21654472, PMID:22197931, PMID:22327936, PMID:22589294, PMID:22753777, PMID:22848035, PMID:23093928, PMID:23444215, PMID:23569304, PMID:24033266, PMID:24101678, PMID:24236184, PMID:24637312, PMID:24803665, PMID:25049390, PMID:25157968, PMID:25326635, PMID:25423878, PMID:25741868, PMID:26350204, PMID:26619011, PMID:26795593, PMID:27862862, PMID:28049852, PMID:28492532, PMID:29493581, PMID:29643386, PMID:30311386, PMID:30763456 NCBI chr 8:69,134,218...69,722,573
Ensembl chr 8:69,134,223...69,164,758
JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16439621, PMID:17703371, PMID:17981815, PMID:18039235, PMID:18042262, PMID:18413255, PMID:20358587, PMID:24033266, PMID:24265153, PMID:25741868, PMID:26619011, PMID:28492532, PMID:29493581 NCBI chr 7:11,458,971...11,478,520
Ensembl chr 7:11,458,967...11,478,489
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17703371 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar NCBI chr 2:188,087,486...188,099,444
Ensembl chr 2:188,087,486...188,099,444
JBrowse link
G Snapc5 small nuclear RNA activating complex, polypeptide 5 ISO ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar NCBI chr 8:69,127,708...69,131,539
Ensembl chr 8:69,127,708...69,131,539
JBrowse link
cardiofaciocutaneous syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 ClinVar
OMIM
PMID:3265306, PMID:4386970, PMID:5771505, PMID:12068308, PMID:15035987, PMID:16372351, PMID:16439621, PMID:16474404, PMID:16523510, PMID:16804887, PMID:16825433, PMID:17366577, PMID:17483702, PMID:17551924, PMID:17603482, PMID:17603483, PMID:17703371, PMID:17704260, PMID:18039235, PMID:18042262, PMID:18186519, PMID:18413255, PMID:18456719, PMID:18470943, PMID:18794803, PMID:18854871, PMID:18953432, PMID:19206169, PMID:19376813, PMID:19416762, PMID:19537845, PMID:20186801, PMID:20301365, PMID:20350999, PMID:20523244, PMID:21063443, PMID:21129611, PMID:21784453, PMID:22190897, PMID:22301711, PMID:22310681, PMID:22495831, PMID:22876591, PMID:23093928, PMID:23273605, PMID:23312806, PMID:23875798, PMID:23950000, PMID:24033266, PMID:24037001, PMID:24088041, PMID:24409384, PMID:24451042, PMID:24719372, PMID:24728327, PMID:24775816, PMID:24803665, PMID:25035421, PMID:25157968, PMID:25463315, PMID:25741868, PMID:26619011, PMID:26633545, PMID:28404629, PMID:28492532, PMID:28650561, PMID:28911804, PMID:29907801, PMID:30290804, PMID:30311386, PMID:31474318 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 ClinVar PMID:8234268, PMID:17056636, PMID:18958496, PMID:21784453, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 ClinVar PMID:17366577, PMID:24719372, PMID:25326637, PMID:28492532 NCBI chr 7:11,458,971...11,478,520
Ensembl chr 7:11,458,967...11,478,489
JBrowse link
cardiofaciocutaneous syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 2
ClinVar Annotator: match by OMIM:615278
OMIM
ClinVar
PMID:7877967, PMID:8246952, PMID:16474404, PMID:16474405, PMID:16773572, PMID:16825433, PMID:17056636, PMID:17551339, PMID:17601930, PMID:17704260, PMID:17875937, PMID:17875939, PMID:18386799, PMID:18456719, PMID:19467855, PMID:20949621, PMID:21062266, PMID:21063026, PMID:21079152, PMID:21396583, PMID:21784453, PMID:21797849, PMID:21871821, PMID:23059812, PMID:24033266, PMID:24240292, PMID:24703799, PMID:24803665, PMID:25180280, PMID:25326637, PMID:25644510, PMID:25741868, PMID:26242988, PMID:26249544, PMID:28492532, PMID:28650561 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
cardiofaciocutaneous syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map2k1 mitogen activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 3 ClinVar
OMIM
PMID:1804226, PMID:12239713, PMID:12529707, PMID:16439621, PMID:16474404, PMID:17366577, PMID:17551924, PMID:17567882, PMID:17704260, PMID:17981815, PMID:18039235, PMID:18042262, PMID:18060073, PMID:18413255, PMID:18632602, PMID:18854871, PMID:19156172, PMID:19376813, PMID:19411838, PMID:19915144, PMID:20958325, PMID:21062266, PMID:21654472, PMID:22197931, PMID:22327936, PMID:22588879, PMID:22589294, PMID:22753777, PMID:22848035, PMID:23093928, PMID:24033266, PMID:24101678, PMID:24236184, PMID:24637312, PMID:25049390, PMID:25157968, PMID:25326635, PMID:25423878, PMID:25741868, PMID:25741869, PMID:26350204, PMID:26619011, PMID:26795593, PMID:27862862, PMID:28049852, PMID:28492532, PMID:30311386, PMID:30763456 NCBI chr 8:69,134,218...69,722,573
Ensembl chr 8:69,134,223...69,164,758
JBrowse link
cardiofaciocutaneous syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 4 OMIM
ClinVar
PMID:16439621, PMID:17366577, PMID:17981815, PMID:18042262, PMID:18413255, PMID:19156172, PMID:19376813, PMID:20358587, PMID:21178588, PMID:22753777, PMID:24033266, PMID:24265153, PMID:24803665, PMID:25741868, PMID:26619011, PMID:28492532, PMID:29493581, PMID:29696744 NCBI chr 7:11,458,971...11,478,520
Ensembl chr 7:11,458,967...11,478,489
JBrowse link
Carvajal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma
ClinVar Annotator: match by term: Carvajal syndrome
ClinVar Annotator: match by term: Cardiomyopathy dilated with woolly hair and keratoderma
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:605676
ClinVar Annotator: match by term: Dilated cardiomyopathy, woolly hair, keratoderma
OMIM
ClinVar
CTD
PMID:8769422, PMID:10594734, PMID:11063735, PMID:11841538, PMID:15210133, PMID:15941723, PMID:16061754, PMID:16175511, PMID:16467215, PMID:16628197, PMID:16774985, PMID:16917092, PMID:18382419, PMID:18632414, PMID:19095136, PMID:19279339, PMID:19558499, PMID:19863551, PMID:19924139, PMID:20031617, PMID:20129281, PMID:20152563, PMID:20400443, PMID:20435227, PMID:20525856, PMID:20716751, PMID:20738328, PMID:20829228, PMID:20864495, PMID:21062920, PMID:21193976, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21723241, PMID:21756917, PMID:21859740, PMID:22214898, PMID:22216297, PMID:22555271, PMID:22795705, PMID:22949226, PMID:23137101, PMID:23292937, PMID:23299917, PMID:23381804, PMID:23396983, PMID:23465283, PMID:23514727, PMID:23524727, PMID:23671136, PMID:23810894, PMID:23812740, PMID:23861362, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24125834, PMID:24440382, PMID:24448499, PMID:24503780, PMID:24704780, PMID:24825141, PMID:24967631, PMID:24981977, PMID:25157032, PMID:25163546, PMID:25196244, PMID:25225338, PMID:25227139, PMID:25344691, PMID:25351510, PMID:25447171, PMID:25516398, PMID:25525159, PMID:25550050, PMID:25569433, PMID:25616645, PMID:25637381, PMID:25661095, PMID:25676813, PMID:25691752, PMID:25693453, PMID:25741868, PMID:25765472, PMID:25820315, PMID:26073755, PMID:26138720, PMID:26148547, PMID:26187847, PMID:26220970, PMID:26230511, PMID:26314686, PMID:26332594, PMID:26383259, PMID:26399581, PMID:26406308, PMID:26498160, PMID:26569459, PMID:26585738, PMID:26604139, PMID:26656175, PMID:26688388, PMID:26735901, PMID:26743238, PMID:26833927, PMID:26850880, PMID:26899768, PMID:27097650, PMID:27153395, PMID:27194543, PMID:27329731, PMID:27435932, PMID:27532257, PMID:27698334, PMID:27707468, PMID:27831900, PMID:27884173, PMID:28074886, PMID:28087426, PMID:28152038, PMID:28254189, PMID:28255936, PMID:28301460, PMID:28341588, PMID:28416588, PMID:28442525, PMID:28471438, PMID:28473349, PMID:28492532, PMID:28527814, PMID:28588093, PMID:28611029, PMID:28759816, PMID:28798025, PMID:28912206, PMID:29062697, PMID:29247119, PMID:29253866, PMID:29420653, PMID:29511324, PMID:29750433, PMID:29759408, PMID:29892087, PMID:29915097, PMID:30165862, PMID:30311386, PMID:30354334, PMID:30382575, PMID:30820396, PMID:30919684, PMID:30975432, PMID:31333075, PMID:31568572 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
Char syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfap2b transcription factor AP-2 beta ISO ClinVar Annotator: match by term: Char syndrome
ClinVar Annotator: match by OMIM:169100
OMIM
ClinVar
PMID:7645594, PMID:8326495, PMID:10368122, PMID:10802654, PMID:10955477, PMID:11505339, PMID:15684060, PMID:21643846, PMID:25741868, PMID:29555671 NCBI chr 9:25,410,669...25,440,568
Ensembl chr 9:25,410,669...25,440,411
JBrowse link
CHIME syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 5
ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome
ClinVar Annotator: match by term: Zunich neuroectodermal syndrome
ClinVar Annotator: match by OMIM:280000
OMIM
ClinVar
PMID:3041916, PMID:7666399, PMID:8893234, PMID:18414213, PMID:22444671, PMID:23561846, PMID:24784135, PMID:25250048, PMID:25741868, PMID:28371479, PMID:28492532, PMID:30311386 NCBI chr10:48,774,018...48,831,848
Ensembl chr10:48,773,828...48,831,855
JBrowse link
CHOPS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aff4 AF4/FMR2 family, member 4 ISO ClinVar Annotator: match by term: Chops syndrome ClinVar
OMIM
PMID:25730767, PMID:25741868, PMID:28492532 NCBI chr10:38,692,167...38,773,021
Ensembl chr10:38,692,211...38,773,021
JBrowse link
chromosome 22q11.2 deletion syndrome, distal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc116 coiled-coil domain containing 116 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,092,794...88,100,220
Ensembl chr11:88,095,170...88,098,252
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Mir130b microRNA 130b ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,129,773...88,129,854
Ensembl chr11:88,129,773...88,129,854
JBrowse link
G Ppil2 peptidylprolyl isomerase like 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,147,342...88,169,968
Ensembl chr11:88,147,377...88,169,968
JBrowse link
G Ppm1f protein phosphatase, Mg2+/Mn2+ dependent, 1F ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,313,709...88,343,726
Ensembl chr11:88,313,709...88,343,627
JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr  X:106,082,984...106,091,256
Ensembl chr  X:106,083,203...106,085,878
JBrowse link
G Rimbp3 RIMS binding protein 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,033,213...88,039,002
Ensembl chr11:88,033,180...88,038,518
JBrowse link
G Sdf2l1 stromal cell-derived factor 2-like 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,122,271...88,124,513
Ensembl chr11:88,122,271...88,124,513
JBrowse link
G Tmem191c transmembrane protein 191C ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:87,975,508...87,982,861
Ensembl chr11:87,975,527...87,977,368
JBrowse link
G Top3b DNA topoisomerase III beta ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,346,305...88,374,896
Ensembl chr11:88,346,313...88,374,679
JBrowse link
G Ube2l3 ubiquitin-conjugating enzyme E2L 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,047,186...88,088,477
Ensembl chr11:88,047,832...88,088,476
JBrowse link
G Vpreb1 V-set pre-B cell surrogate light chain 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,376,256...88,377,133
Ensembl chr11:88,376,256...88,377,133
JBrowse link
G Ydjc YdjC chitooligosaccharide deacetylase homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,089,142...88,094,254
Ensembl chr11:88,090,921...88,093,516
JBrowse link
G Ypel1 yippee-like 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,171,401...88,186,000
Ensembl chr11:88,173,890...88,180,542
JBrowse link
G Zfp280b zinc finger protein 280B ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr20:13,566,381...13,581,215
Ensembl chr20:13,567,803...13,581,164
JBrowse link
cleft palate, cardiac defects, and intellectual disabillity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Meis2 Meis homeobox 2 ISO ClinVar Annotator: match by term: Cleft palate, cardiac defects, and mental retardation ClinVar
OMIM
PMID:24678003, PMID:25741868, PMID:27225850, PMID:28492532 NCBI chr 3:107,560,172...107,762,732
Ensembl chr 3:107,559,997...107,760,589
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:25742962, PMID:28492532, PMID:29037160, PMID:30611920 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
Congenital Agenesis of the Tricuspid Valve term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Congenital agenesis of the tricuspid valve ClinVar PMID:25741868 NCBI chr 7:70,846,313...70,927,028
Ensembl chr 7:70,846,344...70,926,903
JBrowse link
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkd1 protein kinase D1 ISO ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
ClinVar Annotator: match by term: Congenital heart defects and ectodermal dysplasia
ClinVar
OMIM
PMID:25741868, PMID:27479907 NCBI chr 6:71,035,017...71,349,531
Ensembl chr 6:71,035,332...71,349,249
JBrowse link
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME OMIM
ClinVar
PMID:25741868, PMID:28288113, PMID:28492532 NCBI chr 3:10,041,820...10,145,076
Ensembl chr 3:10,041,826...10,144,388
JBrowse link
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk13 cyclin-dependent kinase 13 ISO ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
ClinVar Annotator: match by term: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
ClinVar
OMIM
PMID:19344873, PMID:24999027, PMID:25560765, PMID:25741868, PMID:25741869, PMID:26539891, PMID:27479907, PMID:28135719, PMID:28492532, PMID:28807008, PMID:29021403, PMID:29222009, PMID:29393965, PMID:30311386, PMID:30702837 NCBI chr17:49,833,194...49,922,932
Ensembl chr17:49,833,400...49,921,550
JBrowse link
congenital heart defects, hamartomas of tongue, and polysyndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Orstavik Lindemann Solberg syndrome
ClinVar Annotator: match by term: Congenital heart defects, hamartomas of tongue, and polysyndactyly
ClinVar
OMIM
PMID:20671153, PMID:25326635, PMID:25427950, PMID:25741868, PMID:27158779, PMID:28492532 NCBI chr14:106,393,959...106,759,511
Ensembl chr14:106,393,959...106,759,505
JBrowse link
Congenital Heart Defects, Multiple Types, 1, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by OMIM:306955
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar Annotator: match by term: Heterotaxy, visceral, X-linked
ClinVar Annotator: match by term: Congenital heart defects, multiple types, 1, X-linked
ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
ClinVar
OMIM
PMID:2629409, PMID:3674105, PMID:9354794, PMID:10980576, PMID:14681828, PMID:17295247, PMID:17764085, PMID:18716025, PMID:23427188, PMID:23872418, PMID:24033266, PMID:24123890, PMID:25741868, PMID:26294094, PMID:28492532 NCBI chr  X:140,875,191...140,888,344
Ensembl chr  X:140,878,216...140,888,795
JBrowse link
Congenital Heart Defects, Multiple Types, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 2
ClinVar Annotator: match by OMIM:614980
OMIM
ClinVar
PMID:20493459, PMID:25326635, PMID:25741868, PMID:32860008 NCBI chr 1:1,999,574...2,017,574
Ensembl chr 1:1,999,596...2,073,896
JBrowse link
Congenital Heart Defects, Multiple Types, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 3 ClinVar PMID:25741868, PMID:26467025, PMID:27751358, PMID:28492532, PMID:28724667, PMID:28779002, PMID:29356917, PMID:29922827, PMID:30287823 NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
JBrowse link
Congenital Heart Defects, Multiple Types, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 4 OMIM
ClinVar
PMID:25741868, PMID:27363585, PMID:28492532, PMID:29222010, PMID:29478779, PMID:29663647 NCBI chr 1:131,447,671...131,465,749
Ensembl chr 1:131,448,447...131,460,473
JBrowse link
Congenital Heart Defects, Multiple Types, 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 ClinVar
OMIM
PMID:22961344, PMID:23031282, PMID:23175127, PMID:24638895, PMID:25741868 NCBI chr 3:175,701,278...175,709,465
Ensembl chr 3:175,701,280...175,709,465
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:28991257, PMID:30232381 NCBI chr10:35,078,782...35,120,296
Ensembl chr10:35,078,726...35,121,599
JBrowse link
Congenitally Corrected Transposition of the Great Arteries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nodal nodal growth differentiation factor ISO ClinVar Annotator: match by term: Congenitally corrected transposition of the great arteries ClinVar PMID:25741868 NCBI chr20:31,035,729...31,044,096
Ensembl chr20:31,035,729...31,044,096
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 chr14:81,367,466...81,426,610
Ensembl chr14:81,367,468...81,426,496
JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Interrupted aortic arch ClinVar PMID:30311386 NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Interrupted aortic arch ClinVar PMID:30311386 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Ctnnd1 catenin delta 1 ISO ClinVar Annotator: match by term: Interrupted aortic arch ClinVar PMID:30311386 NCBI chr 3:72,001,904...72,053,047
Ensembl chr 3:72,002,152...72,053,049
JBrowse link
G Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Conotruncal defect ClinVar PMID:25741868, PMID:32003456 NCBI chr 7:117,730,307...117,733,076
Ensembl chr 7:117,730,307...117,732,387
JBrowse link
G Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:25741868, PMID:28492532 NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
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 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Truncus arteriosus communis OMIM
ClinVar
PMID:10587520, PMID:10903346, PMID:11714651, PMID:14607454, PMID:16418214, PMID:17891434, PMID:19073351, PMID:19464101, PMID:19533775, PMID:19948535, PMID:20456451, PMID:20807224, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
G Nkx2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar
OMIM
PMID:24421281, PMID:25741868, PMID:28492532 NCBI chr15:51,034,620...51,038,715
Ensembl chr15:51,034,620...51,038,704
JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:11748311, PMID:15355425, PMID:18375573, PMID:25741868, PMID:28492532 NCBI chr11:86,552,022...86,561,647
Ensembl chr11:86,552,022...86,560,969
JBrowse link
Coronary Vessel Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gclc glutamate-cysteine ligase, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:12598062 NCBI chr 8:85,059,051...85,097,471
Ensembl chr 8:85,059,051...85,097,468
JBrowse link
Deafness, Congenital Heart Defects, and Posterior Embryotoxon term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Deafness, congenital heart defects, and posterior embryotoxon ClinVar PMID:12022040, PMID:20437614, PMID:25741868 NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
JBrowse link
developmental cardiac valvular defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr 6:99,282,850...99,350,367
Ensembl chr 6:99,282,850...99,350,340
JBrowse link
G Pld1 phospholipase D1 ISO ClinVar Annotator: match by term: Cardiac valvular defect, developmental ClinVar
OMIM
PMID:27799408 NCBI chr 2:113,651,967...113,849,403
Ensembl chr 2:113,652,348...113,849,403
JBrowse link
dextro-looped transposition of the great arteries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf1 growth differentiation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17924340 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,767
JBrowse link
G Med13l mediator complex subunit 13L ISO RGD PMID:14638541 RGD:1580649 NCBI chr12:43,421,317...43,576,859
Ensembl chr12:43,421,308...43,576,804
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: : rs1801133(human) RGD PMID:22868813 RGD:11565105 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Slc19a1 solute carrier family 19 member 1 susceptibility ISO DNA:SNP: : rs1051266(human) RGD PMID:22868813 RGD:11565105 NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Transposition of great vessels ClinVar PMID:30311386 NCBI chr 3:63,565,160...63,837,815 JBrowse link
dextro-looped transposition of the great arteries 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfc1 cripto, FRL-1, cryptic family 1 ISS OMIM:608808 MouseDO NCBI chr 9:41,045,352...41,051,979
Ensembl chr 9:41,045,363...41,052,024
JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISS OMIM:608808 MouseDO NCBI chr10:56,609,810...56,619,269
Ensembl chr10:56,610,051...56,619,269
JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISS OMIM:608808 MouseDO NCBI chr 5:155,812,096...155,913,751 JBrowse link
G Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Transposition of the great arteries, dextro-looped 1 OMIM
ClinVar
PMID:14638541, PMID:23403903, PMID:24781760, PMID:25741868, PMID:27824329, PMID:28492532, PMID:28645799 NCBI chr12:43,421,317...43,576,859
Ensembl chr12:43,421,308...43,576,804
JBrowse link
dextro-looped transposition of the great arteries 3 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: Transposition of the great arteries, dextro-looped 3 ClinVar PMID:14648004, PMID:17924340, PMID:17936261, PMID:20413652, PMID:25741868, PMID:28492532, PMID:28991257 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,789
JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Transposition of the great arteries, dextro-looped 3 OMIM
ClinVar
PMID:14648004, PMID:17924340, PMID:17936261, PMID:20413652, PMID:25741868, PMID:28492532, PMID:28991257 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,767
JBrowse link
dextrocardia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Dextrocardia ClinVar PMID:30311386 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Cfap53 cilia and flagella associated protein 53 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar PMID:26531781 NCBI chr18:70,263,290...70,330,420
Ensembl chr18:70,263,359...70,329,907
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar PMID:28492532, PMID:30311386 NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar PMID:30311386 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Dextrocardia ClinVar PMID:25741868, PMID:30532227 NCBI chr 1:226,260,558...226,292,650
Ensembl chr 1:226,260,558...226,292,480
JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr  X:34,731,891...34,794,589
Ensembl chr  X:34,731,891...34,794,589
JBrowse link
G Rock2 Rho-associated coiled-coil containing protein kinase 2 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr 6:42,180,864...42,289,910
Ensembl chr 6:42,180,894...42,289,908
JBrowse link
G Supt16h SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr15:28,574,841...28,611,959
Ensembl chr15:28,575,480...28,611,946
JBrowse link
G Zfyve16 zinc finger FYVE-type containing 16 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr 2:22,060,879...22,105,822
Ensembl chr 2:22,062,050...22,105,710
JBrowse link
G Zic3 Zic family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17127413 NCBI chr  X:140,875,191...140,888,344
Ensembl chr  X:140,878,216...140,888,795
JBrowse link
DiGeorge syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm3 apoptosis inducing factor, mitochondria associated 3 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,364,452...87,380,705
Ensembl chr11:87,366,621...87,380,704
JBrowse link
G Aldh1a2 aldehyde dehydrogenase 1 family, member A2 ISO
ISS
OMIM:188400 MouseDO PMID:12563036 RGD:734550 NCBI chr 8:77,640,234...77,719,488
Ensembl chr 8:77,640,222...77,719,489
JBrowse link
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202, PMID:28492532, PMID:32581362, PMID:9126485 RGD:1578806 NCBI chr11:86,736,125...86,793,795
Ensembl chr11:86,736,142...86,793,791
JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr20:14,421,250...14,546,406
Ensembl chr20:14,421,141...14,545,772
JBrowse link
G Ccdc116 coiled-coil domain containing 116 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,092,794...88,100,220
Ensembl chr11:88,095,170...88,098,252
JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:86,328,785...86,354,099
Ensembl chr11:86,329,012...86,358,453
JBrowse link
G Chrd chordin ISS OMIM:188400 MouseDO NCBI chr11:83,858,503...83,867,543
Ensembl chr11:83,858,503...83,867,203
JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:86,356,292...86,357,718
Ensembl chr11:86,356,294...86,357,718
JBrowse link
G Comt catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge sequence
CTD
ClinVar
PMID:8886163, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge sequence
CTD
ClinVar
PMID:16399080, PMID:32581362 NCBI chr11:87,338,606...87,356,644
Ensembl chr11:87,778,312...87,815,043
JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge sequence
CTD
ClinVar
PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:87,242,441...87,290,806
Ensembl chr11:87,242,522...87,292,955
JBrowse link
G Dgcr6 DiGeorge syndrome critical region gene 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge sequence
CTD
ClinVar
PMID:32581362 NCBI chr11:87,076,205...87,081,306
Ensembl chr11:87,076,381...87,081,950
JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge sequence
CTD
ClinVar
PMID:32581362 NCBI chr11:86,852,682...86,885,233
Ensembl chr11:86,852,711...86,885,224
JBrowse link
G Dicer1 dicer 1 ribonuclease III ISS OMIM:188400 MouseDO NCBI chr 6:128,388,084...128,453,234
Ensembl chr 6:128,388,053...128,434,183
JBrowse link
G Dock1 dedicator of cyto-kinesis 1 ISS OMIM:188400 MouseDO NCBI chr 1:206,900,617...207,414,852
Ensembl chr 1:206,900,617...207,414,843
JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO RGD PMID:8644734 RGD:1580898 NCBI chr 5:173,295,948...173,308,014
Ensembl chr 5:173,296,270...173,307,945
JBrowse link
G Ess2 ess-2 splicing factor homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DiGeorge sequence
CTD
ClinVar
PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:87,224,371...87,234,329
Ensembl chr11:87,224,421...87,233,326
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16399080 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
G Foxn1 forkhead box N1 ISS OMIM:188400 MouseDO NCBI chr10:65,621,142...65,634,666
Ensembl chr10:65,621,257...65,634,666
JBrowse link
G Gnaz G protein subunit alpha z ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr20:14,593,072...14,644,020
Ensembl chr20:14,593,819...14,620,019
JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:86,575,229...86,655,614
Ensembl chr11:86,577,339...86,655,602
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:86,520,992...86,522,169
Ensembl chr11:86,520,992...86,522,169
JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:87,220,618...87,222,606
Ensembl chr11:87,220,618...87,222,606
JBrowse link
G Hic2 HIC ZBTB transcriptional repressor 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,988,213...88,016,825
Ensembl chr11:87,988,213...88,016,825
JBrowse link
G Hira histone cell cycle regulator ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:86,168,196...86,276,430
Ensembl chr11:86,168,196...86,276,430
JBrowse link
G Hoxa3 homeobox A3 ISS OMIM:188400 MouseDO NCBI chr 4:82,137,802...82,181,836
Ensembl chr 4:82,138,683...82,141,385
JBrowse link
G Igll1 immunoglobulin lambda-like polypeptide 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,388,378...88,391,524
Ensembl chr11:88,388,378...88,391,370
JBrowse link
G Kat6a lysine acetyltransferase 6A ISO
ISS
OMIM:188400 MouseDO PMID:22921202 RGD:9590333 NCBI chr16:73,942,669...74,020,750
Ensembl chr16:73,943,455...74,023,005
JBrowse link
G Klhl22 kelch-like family member 22 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,646,489...87,718,808
Ensembl chr11:87,677,966...87,718,826
JBrowse link
G LOC102548901 protein Bop-like ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr12:6,230,524...6,231,398 JBrowse link
G LOC498122 similar to CG15908-PA ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:86,299,210...86,303,453
Ensembl chr11:86,299,210...86,303,453
JBrowse link
G Lztr1 leucine-zipper-like transcription regulator 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,381,638...87,397,849
Ensembl chr11:87,381,899...87,397,498
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,553,868...87,628,631
Ensembl chr11:87,553,868...87,628,502
JBrowse link
G Mical3 microtubule associated monooxygenase, calponin and LIM domain containing 3 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr 4:153,484,876...153,631,986
Ensembl chr 4:153,484,876...153,593,773
JBrowse link
G Mir130b microRNA 130b ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,129,773...88,129,854
Ensembl chr11:88,129,773...88,129,854
JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:86,276,616...86,282,452
Ensembl chr11:86,276,616...86,282,451
JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISS OMIM:188400 MouseDO NCBI chr18:55,951,497...56,014,107
Ensembl chr18:55,955,389...55,992,885
JBrowse link
G P2rx6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,434,929...87,445,221
Ensembl chr11:87,435,185...87,445,219
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,858,323...87,975,549
Ensembl chr11:87,858,453...87,973,422
JBrowse link
G Plxnd1 plexin D1 ISS OMIM:188400 MouseDO NCBI chr 4:147,854,309...147,894,170
Ensembl chr 4:147,854,309...147,893,992
JBrowse link
G Ppil2 peptidylprolyl isomerase like 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,147,342...88,169,968
Ensembl chr11:88,147,377...88,169,968
JBrowse link
G Ppm1f protein phosphatase, Mg2+/Mn2+ dependent, 1F ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,313,709...88,343,726
Ensembl chr11:88,313,709...88,343,627
JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr  X:106,082,984...106,091,256
Ensembl chr  X:106,083,203...106,085,878
JBrowse link
G Prodh1 proline dehydrogenase 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:87,058,478...87,075,785
Ensembl chr11:87,058,616...87,075,785
JBrowse link
G Rab36 RAB36, member RAS oncogene family ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr20:14,557,485...14,573,939
Ensembl chr20:14,557,740...14,573,519
JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:86,890,585...86,898,818
Ensembl chr11:86,890,585...86,898,818
JBrowse link
G Rimbp3 RIMS binding protein 3 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,033,213...88,039,002
Ensembl chr11:88,033,180...88,038,518
JBrowse link
G Rsph14 radial spoke head 14 homolog ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr20:14,576,983...14,653,236
Ensembl chr20:14,577,166...14,653,038
JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:86,992,665...87,017,091
Ensembl chr11:86,992,399...87,017,115
JBrowse link
G Scarf2 scavenger receptor class F, member 2 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,722,350...87,733,734
Ensembl chr11:87,722,350...87,733,734
JBrowse link
G Sdf2l1 stromal cell-derived factor 2-like 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:88,122,271...88,124,513
Ensembl chr11:88,122,271...88,124,513
JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:86,516,377...86,522,169
Ensembl chr11:86,512,797...86,522,168
JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,913,814...87,924,880
Ensembl chr11:87,913,806...87,924,816
JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:21921585, PMID:24826987, PMID:25205790, PMID:25516202, PMID:28492532, PMID:32581362 NCBI chr11:87,204,248...87,207,265
Ensembl chr11:87,204,175...87,207,264
JBrowse link
G Slc7a4 solute carrier family 7, member 4 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,445,585...87,450,008
Ensembl chr11:87,446,382...87,449,940
JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:87,827,633...87,858,107
Ensembl chr11:87,827,651...87,858,107
JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: DiGeorge sequence ClinVar PMID:32581362 NCBI chr11:86,793,959...86,840,556
Ensembl chr11:86,797,557...86,840,573
JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: DiGeorge sequence
ClinVar Annotator: match by term: Catch22
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11748311, PMID:14585638, PMID:15060116, PMID:15190012, PMID:15355425, PMID:16399080, PMID:17000704, PMID:18375573, PMID:19948535, PMID:21921585, PMID:24826987, PMID:24998776, PMID:25205790, PMID:25516202, PMID:25741868