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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Abnormality of cardiovascular system morphology
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Accession:HP:0030680 term browser browse the term
Definition:Any structural anomaly of the heart and great vessels.
Synonyms:exact_synonym: Cardiovascular malformations
 alt_id: HP:0001632;   HP:0002564;   HP:0002565
 xref: UMLS:C4049796



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Abnormality of cardiovascular system morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTG1 actin gamma 1 IAGP OMIM:614583 HPO NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847
JBrowse link
G ACTG2 actin gamma 2, smooth muscle IAGP ORPHA:2604 HPO NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865
JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP ORPHA:404448 HPO NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
JBrowse link
G ANOS1 anosmin 1 IAGP ORPHA:478 HPO NCBI chr  X:8,528,874...8,732,137
Ensembl chr  X:8,528,874...8,732,137
JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP OMIM:614607 HPO NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP ORPHA:251056 HPO NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 IAGP ORPHA:3157 HPO NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933
JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP ORPHA:3473 HPO NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819
JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP ORPHA:2725 HPO NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
JBrowse link
G BBS12 Bardet-Biedl syndrome 12 IAGP ClinVar Annotator: match by term: Cardiovascular malformations ClinVar PMID:17160889 PMID:23591405 PMID:25741868 PMID:28492532 PMID:30614526 NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942
JBrowse link
G BCOR BCL6 corepressor IAGP ORPHA:568 HPO NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP ORPHA:2318 HPO NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
JBrowse link
G CCDC141 coiled-coil domain containing 141 IAGP ORPHA:478 HPO NCBI chr 2:178,814,978...179,050,137
Ensembl chr 2:178,829,757...179,050,137
JBrowse link
G CD96 CD96 molecule IAGP ORPHA:1308 HPO NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,750
JBrowse link
G CEP290 centrosomal protein 290 IAGP ORPHA:2318 HPO NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ORPHA:478 HPO NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
G CHN1 chimerin 1 IAGP ORPHA:233 HPO NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381
JBrowse link
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit IAGP OMIM:612001 ORPHA:199318 HPO NCBI chr15:32,030,483...32,173,018
Ensembl chr15:31,923,438...32,173,018
JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP ORPHA:263463 HPO NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558
JBrowse link
G CTNND2 catenin delta 2 IAGP ORPHA:281 HPO NCBI chr 5:10,971,836...11,904,446
Ensembl chr 5:10,971,836...11,904,446
JBrowse link
G DCC DCC netrin 1 receptor IAGP ORPHA:478 HPO NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,903
JBrowse link
G DEAF1 DEAF1 transcription factor IAGP ORPHA:819 HPO NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118
JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) IAGP ORPHA:246 HPO NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664
JBrowse link
G DHX37 DEAH-box helicase 37 IAGP ORPHA:251510 HPO NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131
JBrowse link
G DLX5 distal-less homeobox 5 IAGP OMIM:183600 HPO NCBI chr 7:97,020,396...97,024,831
Ensembl chr 7:97,020,396...97,024,950
JBrowse link
G DMRT3 doublesex and mab-3 related transcription factor 3 IAGP ORPHA:251510 HPO NCBI chr 9:976,655...991,732
Ensembl chr 9:976,655...991,732
JBrowse link
G DNAH9 dynein axonemal heavy chain 9 IAGP ClinVar Annotator: match by term: Cardiovascular malformations
ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology
ClinVar PMID:25741868 PMID:28492532 PMID:30471718 NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748
JBrowse link
G DNMT3B DNA methyltransferase 3 beta IAGP ORPHA:269 HPO NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359
JBrowse link
G DUSP6 dual specificity phosphatase 6 IAGP ORPHA:478 HPO NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501
JBrowse link
G DUX4 double homeobox 4 IAGP ORPHA:269 HPO NCBI chr 4:190,173,774...190,185,911
Ensembl chr 4:190,173,774...190,185,942
JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP ORPHA:93271 HPO NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 IAGP ORPHA:93271 HPO NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747
JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP ORPHA:93271 HPO NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847
JBrowse link
G EED embryonic ectoderm development IAGP ORPHA:3447 HPO NCBI chr11:86,244,753...86,287,615
Ensembl chr11:86,244,753...86,278,813
JBrowse link
G EMG1 EMG1 N1-specific pseudouridine methyltransferase IAGP ORPHA:1270 HPO NCBI chr12:6,970,913...6,997,428
Ensembl chr12:6,970,913...6,997,428
JBrowse link
G ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP OMIM:208100 HPO NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792
JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP ORPHA:3103 HPO NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640
JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP ORPHA:502 HPO NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP ORPHA:3447 HPO NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321
JBrowse link
G FANCA FA complementation group A IAGP OMIM:227650 HPO NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
JBrowse link
G FANCB FA complementation group B IAGP OMIM:314390 HPO NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255
JBrowse link
G FANCE FA complementation group E IAGP OMIM:600901 HPO NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104
JBrowse link
G FANCI FA complementation group I IAGP OMIM:609053 HPO NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G FEZF1 FEZ family zinc finger 1 IAGP ORPHA:478 HPO NCBI chr 7:122,301,303...122,310,723
Ensembl chr 7:122,301,303...122,310,691
JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP ORPHA:915 HPO NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234
JBrowse link
G FGF17 fibroblast growth factor 17 IAGP ORPHA:478 HPO NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809
JBrowse link
G FGF20 fibroblast growth factor 20 IAGP ORPHA:1848 HPO NCBI chr 8:16,992,181...17,002,345
Ensembl chr 8:16,992,181...17,002,345
JBrowse link
G FGF8 fibroblast growth factor 8 IAGP ORPHA:478 HPO NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP OMIM:147950 ORPHA:3157 ORPHA:478 HPO NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP OMIM:101400 ORPHA:794 ORPHA:87 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ORPHA:794 HPO NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FLII FLII actin remodeling protein IAGP ORPHA:819 HPO NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738
JBrowse link
G FLNA filamin A IAGP ORPHA:75497 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G FLRT3 fibronectin leucine rich transmembrane protein 3 IAGP ORPHA:478 HPO NCBI chr20:14,322,985...14,337,612
Ensembl chr20:14,322,985...14,337,614
JBrowse link
G FOXC1 forkhead box C1 IAGP ORPHA:782 HPO NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897
JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP ORPHA:2052 HPO NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269
JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 IAGP ORPHA:2052 HPO NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131
JBrowse link
G FRG1 FSHD region gene 1 IAGP ORPHA:269 HPO NCBI chr 4:189,940,872...189,963,192
Ensembl chr 4:189,940,870...189,963,202
JBrowse link
G FUZ fuzzy planar cell polarity protein IAGP ORPHA:3027 HPO NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376
JBrowse link
G GATA4 GATA binding protein 4 IAGP ORPHA:251510 HPO NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
JBrowse link
G GATA6 GATA binding protein 6 IAGP ORPHA:2140
ClinVar Annotator: match by term: Cardiovascular malformations
HPO
ClinVar
PMID:22158542 PMID:24385578 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
JBrowse link
G GDF6 growth differentiation factor 6 IAGP OMIM:118100 HPO NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806
JBrowse link
G GJA1 gap junction protein alpha 1 IAGP ORPHA:317 HPO NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G GJB3 gap junction protein beta 3 IAGP ORPHA:317 HPO NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369
JBrowse link
G GJB4 gap junction protein beta 4 IAGP ORPHA:317 HPO NCBI chr 1:34,759,740...34,762,327
Ensembl chr 1:34,759,740...34,762,327
JBrowse link
G GNAQ G protein subunit alpha q IAGP ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology ClinVar PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 More... NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811
JBrowse link
G GPC4 glypican 4 IAGP ORPHA:2662 HPO NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489
JBrowse link
G GPC6 glypican 6 IAGP ORPHA:93329 HPO NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020
JBrowse link
G GREB1L GREB1 like retinoic acid receptor coactivator IAGP ORPHA:1848 HPO NCBI chr18:21,242,232...21,526,112
Ensembl chr18:21,242,232...21,526,112
JBrowse link
G GRIP1 glutamate receptor interacting protein 1 IAGP ORPHA:2052 HPO NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162
JBrowse link
G H19 H19 imprinted maternally expressed transcript IAGP ORPHA:2128 HPO NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,171...2,001,470
JBrowse link
G HESX1 HESX homeobox 1 IAGP ORPHA:3157 ORPHA:478 HPO NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
JBrowse link
G HS6ST1 heparan sulfate 6-O-sulfotransferase 1 IAGP ORPHA:478 HPO NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868
JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP ORPHA:2189 HPO NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
JBrowse link
G IFT80 intraflagellar transport 80 IAGP ORPHA:93271 HPO NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
JBrowse link
G IGF2 insulin like growth factor 2 IAGP ORPHA:2128 HPO NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
JBrowse link
G IL17RD interleukin 17 receptor D IAGP ORPHA:478 HPO NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306
JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 IAGP ORPHA:819 HPO NCBI chr  X:53,225,813...53,321,350
Ensembl chr  X:53,225,828...53,321,350
JBrowse link
G ITGA8 integrin subunit alpha 8 IAGP ORPHA:1848 HPO NCBI chr10:15,513,954...15,719,922
Ensembl chr10:15,513,954...15,719,922
JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP ORPHA:3473 HPO NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 IAGP ORPHA:3473 HPO NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281
JBrowse link
G KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 IAGP ORPHA:2128 HPO NCBI chr11:2,608,328...2,699,998
Ensembl chr11:2,608,328...2,699,994
JBrowse link
G KDSR 3-ketodihydrosphingosine reductase IAGP ORPHA:317 HPO NCBI chr18:63,327,726...63,367,206
Ensembl chr18:63,327,726...63,367,228
JBrowse link
G KIF7 kinesin family member 7 IAGP OMIM:200990 ORPHA:2189 HPO NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
JBrowse link
G KLF13 Kruppel like factor 13 IAGP OMIM:612001 HPO NCBI chr15:31,326,835...31,435,665
Ensembl chr15:31,326,835...31,435,665
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ORPHA:3339 HPO NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LIG4 DNA ligase 4 IAGP ORPHA:235 HPO NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
JBrowse link
G LIPT1 lipoyltransferase 1 IAGP ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:99,154,967...99,163,137
Ensembl chr 2:99,154,955...99,163,157
JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP ORPHA:2140 HPO NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
JBrowse link
G LRP5 LDL receptor related protein 5 IAGP ORPHA:2788 HPO NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275
JBrowse link
G MAFB MAF bZIP transcription factor B IAGP ORPHA:233 HPO NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 IAGP ORPHA:251510 HPO NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152
JBrowse link
G MEFV MEFV innate immuity regulator, pyrin IAGP ClinVar Annotator: match by term: Cardiovascular malformations ClinVar PMID:9668175 PMID:10090880 PMID:10611954 PMID:10612841 PMID:10787450 More... NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G MID1 midline 1 IAGP OMIM:300000 HPO NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654
JBrowse link
G MITD1 microtubule interacting and trafficking domain containing 1 IAGP ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:99,161,427...99,181,058
Ensembl chr 2:99,161,427...99,181,058
JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP OMIM:236700 HPO NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222
JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP ORPHA:568 HPO NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080
JBrowse link
G NDNF neuron derived neurotrophic factor IAGP ORPHA:478 HPO NCBI chr 4:121,035,613...121,072,535
Ensembl chr 4:121,035,613...121,073,021
JBrowse link
G NFIX nuclear factor I X IAGP ORPHA:561 HPO NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology
ClinVar Annotator: match by term: Cardiovascular malformations
ClinVar PMID:18414213 PMID:19181906 PMID:28492532 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
JBrowse link
G NPHP1 nephrocystin 1 IAGP ORPHA:220497 HPO NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066
JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 IAGP ORPHA:251510 HPO NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390
JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP ORPHA:251510 HPO NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 susceptibility IAGP associated with Sotos Syndrome;DNA:mutations:cds:
ORPHA:3447
HPO
RGD
PMID:15452385 RGD:11570546 NCBI chr 5:177,133,015...177,300,213
Ensembl chr 5:177,131,830...177,300,213
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like IAGP OMIM:308050 HPO NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729
JBrowse link
G NSUN2 NOP2/Sun RNA methyltransferase 2 IAGP ORPHA:235 HPO NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP ORPHA:3157 HPO NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
JBrowse link
G PAX3 paired box 3 IAGP ORPHA:894 HPO NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998
JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP OMIM:214110 HPO NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Cardiovascular malformations
ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology
ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PITX2 paired like homeodomain 2 IAGP ORPHA:782 HPO NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP ORPHA:2377 HPO NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764
JBrowse link
G POLR3A RNA polymerase III subunit A IAGP OMIM:264090 HPO NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,975,149...78,029,515
JBrowse link
G PROK2 prokineticin 2 IAGP ORPHA:478 HPO NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206
JBrowse link
G PROKR2 prokineticin receptor 2 IAGP ORPHA:3157 ORPHA:478 HPO NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954
JBrowse link
G PTEN phosphatase and tensin homolog IAGP ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology ClinVar PMID:9140396 PMID:9241266 PMID:9259288 PMID:9399897 PMID:9467011 More... NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Cardiovascular malformations
ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology
ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:12717436 More... NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G RAI1 retinoic acid induced 1 IAGP OMIM:182290 ORPHA:1713 ORPHA:819 HPO NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
JBrowse link
G RARB retinoic acid receptor beta IAGP ORPHA:2470 HPO NCBI chr 3:24,829,321...25,597,932
Ensembl chr 3:24,687,887...25,597,932
JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP ORPHA:1587 HPO NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G RBM10 RNA binding motif protein 10 IAGP OMIM:311900 HPO NCBI chr  X:47,145,221...47,186,813
Ensembl chr  X:47,145,221...47,186,813
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP OMIM:218600 HPO NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G RET ret proto-oncogene IAGP ORPHA:1848 HPO NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP ORPHA:1234 HPO NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
JBrowse link
G RPGRIP1L RPGRIP1 like IAGP ORPHA:220497 HPO NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP ORPHA:276630 HPO NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519
JBrowse link
G SALL4 spalt like transcription factor 4 IAGP ORPHA:233 HPO NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
G SEMA3A semaphorin 3A IAGP ORPHA:478 HPO NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724
JBrowse link
G SEMA5A semaphorin 5A IAGP ORPHA:281 HPO NCBI chr 5:9,035,033...9,546,075
Ensembl chr 5:9,035,033...9,546,075
JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP ORPHA:1788 ORPHA:245 HPO NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803
JBrowse link
G SIN3A SIN3 transcription regulator family member A IAGP OMIM:613406 HPO NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842
JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP ORPHA:93298 HPO NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP ORPHA:3051 HPO NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP OMIM:614609 HPO NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426
JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP OMIM:614608 HPO NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 IAGP ORPHA:269 HPO NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017
JBrowse link
G SMG9 SMG9 nonsense mediated mRNA decay factor IAGP ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology ClinVar PMID:27018474 NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962
JBrowse link
G SMO smoothened, frizzled class receptor IAGP OMIM:241800 HPO NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP ORPHA:478 HPO NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422
JBrowse link
G SOX2 SRY-box transcription factor 2 IAGP ORPHA:3157 HPO NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP ORPHA:3157 HPO NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069
JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP ORPHA:140 ORPHA:251510 HPO NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
JBrowse link
G SP7 Sp7 transcription factor IAGP OMIM:613849 HPO NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315
JBrowse link
G SPRY4 sprouty RTK signaling antagonist 4 IAGP ORPHA:478 HPO NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455
JBrowse link
G SRD5A3 steroid 5 alpha-reductase 3 IAGP ORPHA:324737 HPO NCBI chr 4:55,346,242...55,373,100
Ensembl chr 4:55,346,213...55,373,100
JBrowse link
G SRY sex determining region Y IAGP ORPHA:251510 HPO NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682
JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 IAGP ORPHA:2470 HPO NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267
JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit IAGP ORPHA:3447 HPO NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,038
JBrowse link
G TACR3 tachykinin receptor 3 IAGP ORPHA:478 HPO NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985
JBrowse link
G TBX6 T-box transcription factor 6 IAGP ORPHA:1797 HPO NCBI chr16:30,085,793...30,091,924
Ensembl chr16:30,085,793...30,091,924
JBrowse link
G TCTN3 tectonic family member 3 IAGP ORPHA:2753 HPO NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
JBrowse link
G TEK TEK receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology
ClinVar Annotator: match by term: Cardiovascular malformations
ClinVar PMID:7783168 PMID:7833915 PMID:8980225 PMID:10369874 PMID:19888299 More... NCBI chr 9:27,109,141...27,230,178
Ensembl chr 9:27,109,141...27,230,174
JBrowse link
G TMEM138 transmembrane protein 138 IAGP ORPHA:2318 HPO NCBI chr11:61,362,374...61,376,870
Ensembl chr11:61,361,964...61,377,890
JBrowse link
G TMEM216 transmembrane protein 216 IAGP ORPHA:2318 HPO NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866
JBrowse link
G TMEM231 transmembrane protein 231 IAGP ORPHA:2318 HPO NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289
JBrowse link
G TMEM237 transmembrane protein 237 IAGP ORPHA:220497 ORPHA:2318 HPO NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP ORPHA:93299 HPO NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896
JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP ORPHA:502 HPO NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
JBrowse link
G TUBB tubulin beta class I IAGP OMIM:156610 HPO NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538
JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP OMIM:101400 ORPHA:794 HPO NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
JBrowse link
G UBE3A ubiquitin protein ligase E3A IAGP ORPHA:238446 HPO NCBI chr15:25,333,728...25,439,056
Ensembl chr15:25,333,728...25,439,051
JBrowse link
G VAMP7 vesicle associated membrane protein 7 IAGP ORPHA:251510 HPO NCBI chr  X:155,881,345...155,943,769
NCBI chr  Y:57,067,865...57,130,289
Ensembl chr  X:155,881,345...155,943,769
JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP ORPHA:3027 HPO NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224
JBrowse link
G WDR11 WD repeat domain 11 IAGP ORPHA:478 HPO NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524
JBrowse link
G WDR35 WD repeat domain 35 IAGP ORPHA:93271 HPO NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
JBrowse link
G WNT9B Wnt family member 9B IAGP ORPHA:1848 HPO NCBI chr17:46,833,189...46,886,738
Ensembl chr17:46,833,201...46,886,730
JBrowse link
G WT1 WT1 transcription factor IAGP ORPHA:251510 HPO NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
JBrowse link
G WWOX WW domain containing oxidoreductase IAGP ORPHA:251510 HPO NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 IAGP ORPHA:2140 ORPHA:251510 HPO NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539
JBrowse link
G ZIC3 Zic family member 3 IAGP OMIM:314390 HPO NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691
JBrowse link
G ZNF423 zinc finger protein 423 IAGP ORPHA:2318 HPO NCBI chr16:49,487,524...49,859,279
Ensembl chr16:49,487,524...49,857,919
JBrowse link
Abdominal aortic aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle IAGP ORPHA:91387 HPO NCBI chr10:88,935,074...88,991,397
Ensembl chr10:88,935,074...88,991,339
JBrowse link
G ELN elastin IAGP ORPHA:91387 HPO NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G FBN1 fibrillin 1 IAGP ORPHA:91387 HPO NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FOXE3 forkhead box E3 IAGP ORPHA:91387 HPO NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052
JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 IAGP ORPHA:91387 HPO NCBI chr 6:125,749,632...125,761,269
Ensembl chr 6:125,747,664...125,761,269
JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP ORPHA:397 HPO NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP ORPHA:397 HPO NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G LOX lysyl oxidase IAGP OMIM:617168 ORPHA:91387 HPO NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413
JBrowse link
G MAT2A methionine adenosyltransferase 2A IAGP ORPHA:91387 HPO NCBI chr 2:85,539,168...85,545,281
Ensembl chr 2:85,539,168...85,545,281
JBrowse link
G MFAP5 microfibril associated protein 5 IAGP ORPHA:91387 HPO NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,662,888
JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP DNA:transition:cds:g.677C>T RGD PMID:17398378 RGD:6893584 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MYH11 myosin heavy chain 11 IAGP ORPHA:91387 HPO NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,857,028
JBrowse link
G MYLK myosin light chain kinase IAGP ORPHA:91387 HPO NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332
JBrowse link
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase IAGP OMIM:617253 HPO NCBI chr 8:125,091,860...125,367,120
Ensembl chr 8:125,091,679...125,367,120
JBrowse link
G P4HA2 prolyl 4-hydroxylase subunit alpha 2 IAGP ORPHA:397 HPO NCBI chr 5:132,190,147...132,227,853
Ensembl chr 5:132,190,147...132,295,315
JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 IAGP OMIM:615436 ORPHA:91387 HPO NCBI chr10:50,990,888...52,298,350
Ensembl chr10:50,990,888...52,298,423
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP ORPHA:397 HPO NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G SMAD2 SMAD family member 2 IAGP ORPHA:91387 HPO NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146
JBrowse link
G SMAD3 SMAD family member 3 IAGP OMIM:613795 ORPHA:284984 ORPHA:91387 HPO NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173
JBrowse link
G SMAD4 SMAD family member 4 IAGP ORPHA:91387 HPO NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP ORPHA:91387 HPO NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP ORPHA:91387 HPO NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP ORPHA:91387 HPO NCBI chr 9:99,104,038...99,154,192
Ensembl chr 9:99,104,038...99,154,192
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP ORPHA:91387 HPO NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,601...30,694,142
JBrowse link
Abnormal aortic arch morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARVCF ARVCF delta catenin family member IAGP ORPHA:567 HPO NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
JBrowse link
G COMT catechol-O-methyltransferase IAGP ORPHA:567 HPO NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP ORPHA:96334 HPO NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP ORPHA:567 HPO NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
JBrowse link
G HIRA histone cell cycle regulator IAGP ORPHA:567 HPO NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
JBrowse link
G JMJD1C jumonji domain containing 1C IAGP ORPHA:567 HPO NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
JBrowse link
G MCTP2 multiple C2 and transmembrane domain containing 2 IAGP ORPHA:1596 HPO NCBI chr15:94,231,366...94,483,952
Ensembl chr15:94,231,538...94,483,952
JBrowse link
G MEG3 maternally expressed 3 IAGP ORPHA:96334 HPO NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031
JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP ORPHA:2059 HPO NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118
JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP ORPHA:567 HPO NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980
JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP ORPHA:96334 HPO NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP ORPHA:567 HPO NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161
JBrowse link
G TBX1 T-box transcription factor 1 IAGP ORPHA:567 HPO NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP ORPHA:567 HPO NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
JBrowse link
Abnormal aortic morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA1 BRCA1 DNA repair associated IAGP ORPHA:84 HPO NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ORPHA:84 HPO NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 IAGP ORPHA:84 HPO NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP ORPHA:84 HPO NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
JBrowse link
G FANCA FA complementation group A IAGP ORPHA:84 HPO NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
JBrowse link
G FANCB FA complementation group B IAGP ORPHA:84 HPO NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255
JBrowse link
G FANCC FA complementation group C IAGP ORPHA:84 HPO NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
JBrowse link
G FANCD2 FA complementation group D2 IAGP ORPHA:84 HPO NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
JBrowse link
G FANCE FA complementation group E IAGP ORPHA:84 HPO NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104
JBrowse link
G FANCF FA complementation group F IAGP ORPHA:84 HPO NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
JBrowse link
G FANCG FA complementation group G IAGP ORPHA:84 HPO NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004
JBrowse link
G FANCI FA complementation group I IAGP ORPHA:84 HPO NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G FANCL FA complementation group L IAGP ORPHA:84 HPO NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
JBrowse link
G FANCM FA complementation group M IAGP ORPHA:84 HPO NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
JBrowse link
G GATA4 GATA binding protein 4 IAGP ORPHA:251071 HPO NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
JBrowse link
G HDAC4 histone deacetylase 4 IAGP ORPHA:1001 HPO NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654
JBrowse link
G IDS iduronate 2-sulfatase IAGP ORPHA:217093 HPO NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096
JBrowse link
G LEMD3 LEM domain containing 3 IAGP ORPHA:1306 HPO NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355
JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 IAGP ORPHA:84 HPO NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,674,480...11,691,650
JBrowse link
G NXN nucleoredoxin IAGP ORPHA:1507 HPO NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776
JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ORPHA:84 HPO NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,310
JBrowse link
G RAD51 RAD51 recombinase IAGP ORPHA:84 HPO NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340
JBrowse link
G RAD51C RAD51 paralog C IAGP ORPHA:84 HPO NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611
JBrowse link
G RFWD3 ring finger and WD repeat domain 3 IAGP ORPHA:84 HPO NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP ORPHA:1507 HPO NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP ORPHA:84 HPO NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
JBrowse link
G TBX5 T-box transcription factor 5 IAGP ORPHA:392 HPO NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442
JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP ORPHA:84 HPO NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,657...202,341,980
JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP ORPHA:84 HPO NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,141
JBrowse link
Abnormal aortic valve morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSL4 acyl-CoA synthetase long chain family member 4 IAGP ORPHA:86818 HPO NCBI chr  X:109,641,335...109,733,257
Ensembl chr  X:109,624,244...109,733,403
JBrowse link
G AMMECR1 AMMECR nuclear protein 1 IAGP ORPHA:86818 HPO NCBI chr  X:110,194,186...110,440,233
Ensembl chr  X:110,194,186...110,440,318
JBrowse link
G ARVCF ARVCF delta catenin family member IAGP ORPHA:567 HPO NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP OMIM:613707 HPO NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP ORPHA:84 HPO NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ORPHA:84 HPO NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 IAGP ORPHA:84 HPO NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ORPHA:138 HPO NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP ORPHA:2990 HPO NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115
JBrowse link
G COMT catechol-O-methyltransferase IAGP ORPHA:567 HPO NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP ORPHA:84 HPO NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
JBrowse link
G FANCA FA complementation group A IAGP ORPHA:84 HPO NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
JBrowse link
G FANCB FA complementation group B IAGP ORPHA:84 HPO NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255
JBrowse link
G FANCC FA complementation group C IAGP ORPHA:84 HPO NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
JBrowse link
G FANCD2 FA complementation group D2 IAGP ORPHA:84 HPO NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
JBrowse link
G FANCE FA complementation group E IAGP ORPHA:84 HPO NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104
JBrowse link
G FANCF FA complementation group F IAGP ORPHA:84 HPO NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
JBrowse link
G FANCG FA complementation group G IAGP ORPHA:84 HPO NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004
JBrowse link
G FANCI FA complementation group I IAGP ORPHA:84 HPO NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G FANCL FA complementation group L IAGP ORPHA:84 HPO NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
JBrowse link
G FANCM FA complementation group M IAGP ORPHA:84 HPO NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
JBrowse link
G FBN1 fibrillin 1 IAGP ORPHA:2462 HPO NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G GLA galactosidase alpha IAGP ORPHA:324 HPO NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012
JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP ORPHA:576 HPO NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP ORPHA:567 HPO NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
JBrowse link
G HIRA histone cell cycle regulator IAGP ORPHA:567 HPO NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP ORPHA:3287 HPO NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G IL12B interleukin 12B IAGP ORPHA:3287 HPO NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863
JBrowse link
G JMJD1C jumonji domain containing 1C IAGP ORPHA:567 HPO NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
JBrowse link
G KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 IAGP ORPHA:86818 HPO NCBI chr  X:109,623,700...109,625,172
Ensembl chr  X:109,623,700...109,625,172
JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 IAGP ORPHA:84 HPO NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,674,480...11,691,650
JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP OMIM:615280 HPO NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122
JBrowse link
G MLX MAX dimerization protein MLX IAGP ORPHA:3287 HPO NCBI chr17:42,567,100...42,573,203
Ensembl chr17:42,567,072...42,573,239
JBrowse link
G MMP21 matrix metallopeptidase 21 IAGP OMIM:616749 HPO NCBI chr10:125,766,453...125,775,821
Ensembl chr10:125,753,580...125,775,821
JBrowse link
G MYH3 myosin heavy chain 3 IAGP ORPHA:2990 HPO NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309
JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ORPHA:84 HPO NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,310
JBrowse link
G RAD51 RAD51 recombinase IAGP ORPHA:84 HPO NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340
JBrowse link
G RAD51C RAD51 paralog C IAGP ORPHA:84 HPO NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611
JBrowse link
G RFWD3 ring finger and WD repeat domain 3 IAGP ORPHA:84 HPO NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877
JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP ORPHA:192 HPO NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519
JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP ORPHA:567 HPO NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980
JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP ORPHA:567 HPO NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161
JBrowse link
G SEMA3E semaphorin 3E IAGP ORPHA:138 HPO NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139
JBrowse link
G SH2B1 SH2B adaptor protein 1 IAGP ORPHA:261197 HPO NCBI chr16:28,846,606...28,874,205
Ensembl chr16:28,846,600...28,874,212
JBrowse link
G SKI SKI proto-oncogene IAGP ORPHA:2462 HPO NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,228,319...2,310,213
JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP ORPHA:84 HPO NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Abnormality of the aortic valve ClinVar PMID:17143282 PMID:17586837 PMID:18854871 PMID:19352411 PMID:21340158 More... NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345
JBrowse link
G TBX1 T-box transcription factor 1 IAGP ORPHA:567 HPO NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
JBrowse link
G TMEM70 transmembrane protein 70 IAGP ORPHA:1194 HPO NCBI chr 8:73,976,195...73,982,783
Ensembl chr 8:73,972,437...73,982,783
JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP ORPHA:84 HPO NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,657...202,341,980
JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP ORPHA:567 HPO NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP ORPHA:84 HPO NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,141
JBrowse link
Abnormal atrial septum morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP ORPHA:909 HPO NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293
JBrowse link
Abnormal cardiac septum morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFF4 AF4/FMR2 family member 4 IAGP OMIM:616368 HPO NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634
JBrowse link
G ALG8 ALG8 alpha-1,3-glucosyltransferase IAGP OMIM:608104 HPO NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660
JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP OMIM:608776 HPO NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581
JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP ORPHA:97297 HPO NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
JBrowse link
G ATN1 atrophin 1 IAGP OMIM:618494 HPO NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321
JBrowse link
G B3GLCT beta 3-glucosyltransferase IAGP ORPHA:709 HPO NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
JBrowse link
G BCOR BCL6 corepressor IAGP ORPHA:2712 HPO NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
G CASZ1 castor zinc finger 1 IAGP ORPHA:1606 HPO NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650
JBrowse link
G CCNQ cyclin Q IAGP ORPHA:140952 HPO NCBI chr  X:153,587,925...153,599,139
Ensembl chr  X:153,587,925...153,600,045
JBrowse link
G CDC42 cell division cycle 42 IAGP OMIM:616737 HPO NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ORPHA:138 HPO NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
G COX7B cytochrome c oxidase subunit 7B IAGP ORPHA:2556 HPO NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376
JBrowse link
G DPF2 double PHD fingers 2 IAGP OMIM:618027 HPO NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,852...65,354,262
JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 IAGP ORPHA:96147 HPO NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016
JBrowse link
G FLNA filamin A IAGP ORPHA:2484 ORPHA:90652 ORPHA:99811 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G FUT8 fucosyltransferase 8 IAGP OMIM:618005 HPO NCBI chr14:65,356,842...65,744,121
Ensembl chr14:65,410,592...65,744,121
JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP ORPHA:1606 HPO NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758
JBrowse link
G HCCS holocytochrome c synthase IAGP ORPHA:2556 HPO NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,301...11,123,086
JBrowse link
G HNRNPU heterogeneous nuclear ribonucleoprotein U IAGP ORPHA:238769 HPO NCBI chr 1:244,850,297...244,864,543
Ensembl chr 1:244,840,638...244,864,560
JBrowse link
G HOXD13 homeobox D13 IAGP ORPHA:887 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP ORPHA:1606 HPO NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
JBrowse link
G KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 IAGP ORPHA:1606 HPO NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193
JBrowse link
G KDM6A lysine demethylase 6A IAGP ORPHA:2322 HPO NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779
JBrowse link
G KIF7 kinesin family member 7 IAGP OMIM:200990 HPO NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
JBrowse link
G KMT2D lysine methyltransferase 2D IAGP ORPHA:2322 HPO NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
JBrowse link
G LUZP1 leucine zipper protein 1 IAGP ORPHA:1606 HPO NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,177,808
JBrowse link
G MCTP2 multiple C2 and transmembrane domain containing 2 IAGP ORPHA:1596 HPO NCBI chr15:94,231,366...94,483,952
Ensembl chr15:94,231,538...94,483,952
JBrowse link
G MED25 mediator complex subunit 25 IAGP OMIM:616449 HPO NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383
JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP OMIM:249000 HPO NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
JBrowse link
G MMP23B matrix metallopeptidase 23B IAGP ORPHA:1606 HPO NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263
JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP ORPHA:3319 HPO NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
JBrowse link
G MYH7 myosin heavy chain 7 IAGP ORPHA:437572 HPO NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G MYMK myomaker, myoblast fusion factor IAGP OMIM:254940 HPO NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612
JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP ORPHA:2556 HPO NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466
JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP OMIM:610978 HPO NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP ORPHA:1479 HPO NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
JBrowse link
G NOTCH2 notch receptor 2 IAGP OMIM:102500 HPO NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like IAGP OMIM:308050 HPO NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729
JBrowse link
G PACS1 phosphofurin acidic cluster sorting protein 1 IAGP OMIM:615009 HPO NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744
JBrowse link
G PACS2 phosphofurin acidic cluster sorting protein 2 IAGP OMIM:618067 HPO NCBI chr14:105,300,774...105,398,147
Ensembl chr14:105,300,563...105,398,147
JBrowse link
G PDPN podoplanin IAGP ORPHA:1606 HPO NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP ORPHA:2059 HPO NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118
JBrowse link
G POLR1A RNA polymerase I subunit A IAGP ORPHA:1200 HPO NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155
JBrowse link
G PPP2CA protein phosphatase 2 catalytic subunit alpha IAGP OMIM:618354 HPO NCBI chr 5:134,194,332...134,226,073
Ensembl chr 5:134,194,332...134,226,073
JBrowse link
G PRDM16 PR/SET domain 16 IAGP ORPHA:1606 HPO NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621
JBrowse link
G PRKCZ protein kinase C zeta IAGP ORPHA:1606 HPO NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395
JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP OMIM:615583 HPO NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,829,352
JBrowse link
G RBM8A RNA binding motif protein 8A IAGP ORPHA:3320 HPO NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP ORPHA:1225 HPO NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G RERE arginine-glutamic acid dipeptide repeats IAGP ORPHA:1606 HPO NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921
JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP ORPHA:175 HPO NCBI chr 9:35,657,751...35,658,018
Ensembl chr 9:35,657,754...35,658,017
Ensembl chr 9:35,657,754...35,658,017
JBrowse link
G SEMA3E semaphorin 3E IAGP ORPHA:138 HPO NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139
JBrowse link
G SKI SKI proto-oncogene IAGP ORPHA:1606 HPO NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,228,319...2,310,213
JBrowse link
G SMAD4 SMAD family member 4 IAGP ORPHA:2588 HPO NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G SPEN spen family transcriptional repressor IAGP ORPHA:1606 HPO NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456
JBrowse link
G STAG2 stromal antigen 2 IAGP OMIM:301022 HPO NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664
JBrowse link
G THPO thrombopoietin IAGP ORPHA:3319 HPO NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968
JBrowse link
G TXNL4A thioredoxin like 4A IAGP ORPHA:1200 HPO NCBI chr18:79,970,813...80,033,936
Ensembl chr18:79,970,813...80,033,949
JBrowse link
G UBE4B ubiquitination factor E4B IAGP ORPHA:1606 HPO NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239
JBrowse link
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 IAGP ORPHA:2315 HPO NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113
JBrowse link
Abnormal cardiac ventricle morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBN1 fibrillin 1 IAGP ORPHA:284979 HPO NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
Abnormal cardiomyocyte morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPLA2 patatin like phospholipase domain containing 2 IAGP ORPHA:565612 HPO NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573
JBrowse link
Abnormal carotid artery morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7A ATPase copper transporting alpha IAGP ORPHA:565 HPO NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395
JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP ORPHA:904 HPO NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293
JBrowse link
G BCL7B BAF chromatin remodeling complex subunit BCL7B IAGP ORPHA:904 HPO NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690
JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP ORPHA:84 HPO NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ORPHA:84 HPO NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 IAGP ORPHA:84 HPO NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP ORPHA:904 HPO NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,025...73,705,161
JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP ORPHA:904 HPO NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935
JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP ORPHA:904 HPO NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453
JBrowse link
G EIF4H eukaryotic translation initiation factor 4H IAGP ORPHA:904 HPO NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122
JBrowse link
G ELN elastin IAGP ORPHA:904 HPO NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP ORPHA:84 HPO NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
JBrowse link
G FANCA FA complementation group A IAGP ORPHA:84 HPO NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
JBrowse link
G FANCB FA complementation group B IAGP ORPHA:84 HPO NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255
JBrowse link
G FANCC FA complementation group C IAGP ORPHA:84 HPO NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
JBrowse link
G FANCD2 FA complementation group D2 IAGP ORPHA:84 HPO NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
JBrowse link
G FANCE FA complementation group E IAGP ORPHA:84 HPO NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104
JBrowse link
G FANCF FA complementation group F IAGP ORPHA:84 HPO NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
JBrowse link
G FANCG FA complementation group G IAGP ORPHA:84 HPO NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004
JBrowse link
G FANCI FA complementation group I IAGP ORPHA:84 HPO NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G FANCL FA complementation group L IAGP ORPHA:84 HPO NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
JBrowse link
G FANCM FA complementation group M IAGP ORPHA:84 HPO NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP ORPHA:904 HPO NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637
JBrowse link
G GTF2I general transcription factor IIi IAGP ORPHA:904 HPO NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692
JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP ORPHA:904 HPO NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605
JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP ORPHA:904 HPO NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605
JBrowse link
G HOXA1 homeobox A1 IAGP DNA:insertion mutation: :175-176insG(human) RGD PMID:17875913 RGD:11553821 NCBI chr 7:27,092,993...27,096,000
Ensembl chr 7:27,092,993...27,096,000
JBrowse link
G LIMK1 LIM domain kinase 1 IAGP ORPHA:904 HPO NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525
JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 IAGP ORPHA:84 HPO NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,674,480...11,691,650
JBrowse link
G METTL27 methyltransferase like 27 IAGP ORPHA:904 HPO NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516
JBrowse link
G MLXIPL MLX interacting protein like IAGP ORPHA:904 HPO NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543
JBrowse link
G MT2A metallothionein 2A IAGP DNA:snp:5' utr:g.+838C>G RGD PMID:17622311 RGD:6483844 NCBI chr16:56,608,584...56,609,497
Ensembl chr16:56,608,584...56,609,497
JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP ORPHA:904 HPO NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ORPHA:84 HPO NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,310
JBrowse link
G RAD51 RAD51 recombinase IAGP ORPHA:84 HPO NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340
JBrowse link
G RAD51C RAD51 paralog C IAGP ORPHA:84 HPO NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611
JBrowse link
G RFC2 replication factor C subunit 2 IAGP ORPHA:904 HPO NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458
JBrowse link
G RFWD3 ring finger and WD repeat domain 3 IAGP ORPHA:84 HPO NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877
JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP ORPHA:3342 HPO NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347
JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP ORPHA:84 HPO NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
JBrowse link
G STX1A syntaxin 1A IAGP ORPHA:904 HPO NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672
JBrowse link
G TBL2 transducin beta like 2 IAGP ORPHA:904 HPO NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791
JBrowse link
G TMEM270 transmembrane protein 270 IAGP ORPHA:904 HPO NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890
JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP ORPHA:84 HPO NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,657...202,341,980
JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP ORPHA:904 HPO NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112
JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP ORPHA:84 HPO NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,141
JBrowse link
Abnormal cerebral artery morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDE1 nudE neurodevelopment protein 1 IAGP ORPHA:2177 HPO NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691
JBrowse link
Abnormal circle of Willis morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANGPTL6 angiopoietin like 6 IAGP ORPHA:231160 HPO NCBI chr19:10,092,338...10,106,190
Ensembl chr19:10,092,338...10,102,678
JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP ORPHA:231160 HPO NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G ENG endoglin IAGP ORPHA:231160 HPO NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G TGFBR3 transforming growth factor beta receptor 3 IAGP ORPHA:231160 HPO NCBI chr 1:91,680,343...91,906,002
Ensembl chr 1:91,680,343...91,906,335
JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 IAGP ORPHA:231160 HPO NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373
JBrowse link
Abnormal common carotid artery morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SON SON DNA and RNA binding protein IAGP ORPHA:500150 HPO NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481
JBrowse link
Abnormal coronary artery course term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TKT transketolase IAGP ORPHA:488618 HPO NCBI chr 3:53,224,712...53,256,022
Ensembl chr 3:53,224,712...53,256,052
JBrowse link
Abnormal coronary artery morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADRB3 adrenoceptor beta 3 no_association IAGP DNA:missense mutation:cds:p.W64R (rs4994) RGD PMID:11229427 RGD:5684412 NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599
JBrowse link
G APOA4 apolipoprotein A4 susceptibility
no_association
IAGP associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.Q360H
DNA:mutation:intron:IVS2
RGD PMID:7958503 PMID:10428310 RGD:5685678, RGD:1578442 NCBI chr11:116,820,700...116,823,304
Ensembl chr11:116,820,700...116,823,304
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:transition:cds:g.677C>T RGD PMID:12387655 RGD:6893453 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 no_association IAGP DNA:missense mutations:cds:p.L125V, p.S563N
DNA:missense mutation:cds:p.L125V
DNA:missense mutation:cds:p.R643G
RGD PMID:10571959 PMID:10780329 PMID:15488875 RGD:1598382, RGD:6771225, RGD:6771224 NCBI chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776
JBrowse link
G PLAT plasminogen activator, tissue type IAGP DNA:snp:enhancer:g.-7351C>T RGD PMID:11848437 RGD:1580881 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709
JBrowse link
G SERPINE1 serpin family E member 1 susceptibility IAGP DNA:deletion:promoter:g.-676_-674delG RGD PMID:12477941 RGD:1626626 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
Abnormal coronary artery origin term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LZTR1 leucine zipper like transcription regulator 1 IAGP OMIM:605275 HPO NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
JBrowse link
Abnormal endocardium morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP ORPHA:758 HPO NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP ORPHA:904 HPO NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293
JBrowse link
G BCL7B BAF chromatin remodeling complex subunit BCL7B IAGP ORPHA:904 HPO NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ORPHA:500 HPO NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP ORPHA:904 HPO NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,025...73,705,161
JBrowse link
G CLEC7A C-type lectin domain containing 7A IAGP ORPHA:1334 HPO NCBI chr12:10,116,777...10,130,304
Ensembl chr12:10,116,777...10,130,258
JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP ORPHA:904 HPO NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935
JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP ORPHA:904 HPO NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453
JBrowse link
G EIF4H eukaryotic translation initiation factor 4H IAGP ORPHA:904 HPO NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122
JBrowse link
G ELN elastin IAGP ORPHA:904 HPO NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP ORPHA:758 HPO NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP ORPHA:904 HPO NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637
JBrowse link
G GLA galactosidase alpha IAGP ORPHA:324 HPO NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012
JBrowse link
G GTF2I general transcription factor IIi IAGP ORPHA:904 HPO NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692
JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP ORPHA:904 HPO NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605
JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP ORPHA:904 HPO NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605
JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP ORPHA:3287 HPO NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G IL12B interleukin 12B IAGP ORPHA:3287 HPO NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863
JBrowse link
G IL17F interleukin 17F IAGP ORPHA:1334 HPO NCBI chr 6:52,236,681...52,245,689
Ensembl chr 6:52,236,681...52,244,500
JBrowse link
G IL17RA interleukin 17 receptor A IAGP ORPHA:1334 HPO NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693
JBrowse link
G IL17RC interleukin 17 receptor C IAGP ORPHA:1334 HPO NCBI chr 3:9,917,098...9,933,621
Ensembl chr 3:9,917,074...9,933,630
JBrowse link
G LIMK1 LIM domain kinase 1 IAGP ORPHA:904 HPO NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525
JBrowse link
G METTL27 methyltransferase like 27 IAGP ORPHA:904 HPO NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516
JBrowse link
G MLX MAX dimerization protein MLX IAGP ORPHA:3287 HPO NCBI chr17:42,567,100...42,573,203
Ensembl chr17:42,567,072...42,573,239
JBrowse link
G MLXIPL MLX interacting protein like IAGP ORPHA:904 HPO NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543
JBrowse link
G MYH7 myosin heavy chain 7 IAGP ORPHA:1880 HPO NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP ORPHA:904 HPO NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ORPHA:500 HPO NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP ORPHA:500 HPO NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
JBrowse link
G RFC2 replication factor C subunit 2 IAGP ORPHA:904 HPO NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458
JBrowse link
G STX1A syntaxin 1A IAGP ORPHA:904 HPO NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672
JBrowse link
G TBL2 transducin beta like 2 IAGP ORPHA:904 HPO NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791
JBrowse link
G TMEM270 transmembrane protein 270 IAGP ORPHA:904 HPO NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890
JBrowse link
G TRAF3IP2 TRAF3 interacting protein 2 IAGP ORPHA:1334 HPO NCBI chr 6:111,555,381...111,605,878
Ensembl chr 6:111,555,381...111,606,906
JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP ORPHA:904 HPO NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112
JBrowse link
Abnormal heart morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP ClinVar Annotator: match by term: congenital heart defect ClinVar PMID:25741868 NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G ABCC8 ATP binding cassette subfamily C member 8 IAGP ORPHA:99885 ORPHA:99886 HPO NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894
JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP OMIM:615873 HPO NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP OMIM:263210 HPO NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581
JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP OMIM:614607 HPO NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP ORPHA:93359 HPO NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP RGD PMID:16474404 RGD:1600471 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit IAGP ClinVar Annotator: match by term: Abnormality of cardiac morphology ClinVar PMID:25741868 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589
JBrowse link
G CDC42 cell division cycle 42 IAGP ORPHA:487796 HPO NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360
JBrowse link
G CDK8 cyclin dependent kinase 8 IAGP ClinVar Annotator: match by term: congenital heart defect ClinVar PMID:25741868 NCBI chr13:26,254,129...26,405,238
Ensembl chr13:26,254,104...26,405,238
JBrowse link
G CDKL4 cyclin dependent kinase like 4 IAGP ClinVar Annotator: match by term: Abnormally shaped heart ClinVar NCBI chr 2:39,168,045...39,247,120
Ensembl chr 2:39,175,646...39,243,957
JBrowse link
G CDON cell adhesion associated, oncogene regulated IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335
JBrowse link
G CEP170B centrosomal protein 170B IAGP ClinVar Annotator: match by term: Abnormally shaped heart ClinVar PMID:23087211 PMID:25741868 PMID:31680349 NCBI chr14:104,864,513...104,896,747
Ensembl chr14:104,865,268...104,896,747
JBrowse link
G CERS1 ceramide synthase 1 IAGP ClinVar Annotator: match by term: Congenital heart defects ClinVar PMID:28492532 PMID:28991257 NCBI chr19:18,868,545...18,896,982
Ensembl chr19:18,868,545...18,896,727
JBrowse link
G CHRM3 cholinergic receptor muscarinic 3 IAGP OMIM:100100 HPO NCBI chr 1:239,386,568...239,915,450
Ensembl chr 1:239,386,565...239,915,452
JBrowse link
G COG7 component of oligomeric golgi complex 7 IAGP OMIM:608779 HPO NCBI chr16:23,388,493...23,453,189
Ensembl chr16:23,388,493...23,453,189
JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP ClinVar Annotator: match by term: Abnormally shaped heart
ClinVar Annotator: match by term: congenital heart defect
ClinVar PMID:10677296 PMID:21204229 PMID:22246659 PMID:24033266 PMID:25741868 More... NCBI chr 6:33,162,694...33,193,137
Ensembl chr 6:33,162,681...33,192,499
JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP OMIM:618343 HPO NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP ORPHA:2754 HPO NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376
JBrowse link
G CSNK2A1 casein kinase 2 alpha 1 IAGP OMIM:617062 HPO NCBI chr20:472,498...543,790
Ensembl chr20:472,498...543,835
JBrowse link
G DCHS1 dachsous cadherin-related 1 IAGP ORPHA:314679 HPO NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809
JBrowse link
G DDB1 damage specific DNA binding protein 1 IAGP ClinVar Annotator: match by term: Abnormal heart morphology ClinVar PMID:25741868 NCBI chr11:61,299,451...61,333,105
Ensembl chr11:61,299,451...61,342,596
JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995
JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP ORPHA:254525 HPO NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
JBrowse link
G DLL1 delta like canonical Notch ligand 1 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565
JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP ORPHA:811 HPO NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964
JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP ClinVar Annotator: match by term: Abnormally shaped heart ClinVar PMID:25741868 PMID:29458881 PMID:31680349 NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP ORPHA:401973 HPO NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716
JBrowse link
G EFL1 elongation factor like GTPase 1 IAGP ORPHA:811 HPO NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773
JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 IAGP ORPHA:261652 HPO NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016
JBrowse link
G EPHB4 EPH receptor B4 IAGP ORPHA:137667 HPO NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
JBrowse link
G ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP ORPHA:1143 HPO NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792
JBrowse link
G ESR1 estrogen receptor 1 susceptibility IAGP DNA:SNP:intron: RGD PMID:19032828 RGD:8553058 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619
JBrowse link
G EXOC6B exocyst complex component 6B IAGP ORPHA:93359 HPO NCBI chr 2:72,175,984...72,826,033
Ensembl chr 2:72,175,984...72,826,041
JBrowse link
G FAM149B1 family with sequence similarity 149 member B1 IAGP ORPHA:2754 HPO NCBI chr10:73,168,119...73,244,504
Ensembl chr10:73,168,119...73,244,504
JBrowse link
G FANCA FA complementation group A IAGP OMIM:227650 HPO NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
JBrowse link
G FANCD2 FA complementation group D2 IAGP OMIM:227646 HPO NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
JBrowse link
G FANCE FA complementation group E IAGP OMIM:600901 HPO NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104
JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP ORPHA:314679 HPO NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
JBrowse link
G FGF8 fibroblast growth factor 8 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP ORPHA:220386 HPO NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP OMIM:101400 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FLNA filamin A IAGP ORPHA:1826 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G FOXH1 forkhead box H1 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849
JBrowse link
G FOXP1 forkhead box P1 IAGP ORPHA:391372 HPO NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978
JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP OMIM:219000 HPO NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269
JBrowse link
G GAS1 growth arrest specific 1 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506
JBrowse link
G GATA3 GATA binding protein 3 IAGP ORPHA:2237 HPO NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198
JBrowse link
G GATA6 GATA binding protein 6 IAGP ClinVar Annotator: match by term: Congenital heart defects ClinVar NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
JBrowse link
G GCK glucokinase IAGP ORPHA:99885 HPO NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170
JBrowse link
G GDF1 growth differentiation factor 1 IAGP ClinVar Annotator: match by term: Congenital heart defects ClinVar PMID:28492532 PMID:28991257 NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158
JBrowse link
G GLI2 GLI family zinc finger 2 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP OMIM:175700 HPO NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP ORPHA:1865 HPO NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP ClinVar Annotator: match by term: Abnormally shaped heart ClinVar PMID:25741868 PMID:27055666 PMID:31680349 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
JBrowse link
G HYMAI hydatidiform mole associated and imprinted IAGP ORPHA:99886 HPO NCBI chr 6:144,004,916...144,008,259
Ensembl chr 6:144,004,916...144,008,262
JBrowse link
G INS insulin IAGP ORPHA:99885 HPO NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
JBrowse link
G INTS1 integrator complex subunit 1 IAGP OMIM:618571 HPO NCBI chr 7:1,470,277...1,504,389
Ensembl chr 7:1,470,277...1,504,389
JBrowse link
G ISL1 ISL LIM homeobox 1 IAGP ClinVar Annotator: match by term: Abnormally shaped heart ClinVar NCBI chr 5:51,383,448...51,394,730
Ensembl chr 5:51,383,448...51,394,730
JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP ORPHA:99885 ORPHA:99886 HPO NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331
JBrowse link
G KIAA0753 KIAA0753 IAGP ORPHA:2754 HPO NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711
JBrowse link
G KIF7 kinesin family member 7 IAGP ORPHA:2754 HPO NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
JBrowse link
G KMT2C lysine methyltransferase 2C IAGP ORPHA:261652 HPO NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP RGD PMID:16474404 RGD:1600471 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LEMD3 LEM domain containing 3 IAGP ORPHA:166119 HPO NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355
JBrowse link
G LMBRD1 LMBR1 domain containing 1 IAGP ORPHA:79284 HPO NCBI chr 6:69,674,010...69,797,010
Ensembl chr 6:69,672,757...69,867,236
JBrowse link
G LZTR1 leucine zipper like transcription regulator 1 IAGP DNA:missense mutation:cds:c.742G>A (p.G248R), c.360C>A (p.H120Q), c.2245T>C (p.Y749H) (human) RGD PMID:31825158 RGD:151708718 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP ORPHA:1826 HPO NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,072
JBrowse link
G MAP4K3 mitogen-activated protein kinase kinase kinase kinase 3 IAGP ClinVar Annotator: match by term: Abnormally shaped heart ClinVar NCBI chr 2:39,249,266...39,437,285
Ensembl chr 2:39,249,266...39,437,301
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP ClinVar Annotator: match by term: Abnormally shaped heart ClinVar PMID:25741868 PMID:32721402 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
JBrowse link
G MED12 mediator complex subunit 12 IAGP OMIM:305450 HPO NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103
JBrowse link
G MEFV MEFV innate immuity regulator, pyrin IAGP ClinVar Annotator: match by term: congenital heart defect ClinVar PMID:9668175 PMID:10090880 PMID:10611954 PMID:10612841 PMID:10787450 More... NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G MEG3 maternally expressed 3 IAGP ORPHA:254525 HPO NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031
JBrowse link
G MID1 midline 1 IAGP OMIM:300000 HPO NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654
JBrowse link
G MYH6 myosin heavy chain 6 IAGP ClinVar Annotator: match by term: Congenital heart defects
ClinVar Annotator: match by term: Abnormally shaped heart
ClinVar PMID:25326635 PMID:25741868 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
JBrowse link
G MYRF myelin regulatory factor IAGP ClinVar Annotator: match by term: Abnormally shaped heart ClinVar PMID:25741868 PMID:30532227 NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518
JBrowse link
G NEU1 neuraminidase 1 IAGP ORPHA:93400 HPO NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905
JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP DNA:mutations:multiple
ClinVar Annotator: match by term: Abnormally shaped heart
ClinVar
RGD
PMID:24033266 PMID:15342699 RGD:1581132 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
JBrowse link
G NODAL nodal growth differentiation factor IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926
ClinVar Annotator: match by term: Abnormally shaped heart
HPO
ClinVar
PMID:19064609 PMID:25741868 PMID:31680349 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
JBrowse link
G NONO non-POU domain containing octamer binding IAGP ClinVar Annotator: match by term: Abnormally shaped heart ClinVar PMID:25741868 PMID:27550220 PMID:31680349 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522
JBrowse link
G NOTCH1 notch receptor 1 IAGP ClinVar Annotator: match by term: congenital heart defect
ClinVar Annotator: match by term: Abnormally shaped heart
ClinVar Annotator: match by term: Congenital heart defects
ClinVar PMID:17662764 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28387797 More... NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP OMIM:311200 ORPHA:2754 HPO NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G PBX1 PBX homeobox 1 IAGP OMIM:617641 HPO NCBI chr 1:164,559,184...164,886,047
Ensembl chr 1:164,555,584...164,899,296
JBrowse link
G PDE6D phosphodiesterase 6D IAGP ORPHA:2754 HPO NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272
JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 IAGP ORPHA:99885 HPO NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313
JBrowse link
G PEX2 peroxisomal biogenesis factor 2 IAGP OMIM:614866 HPO NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044
JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP OMIM:214110 HPO NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
JBrowse link
G PIGV phosphatidylinositol glycan anchor biosynthesis class V IAGP OMIM:239300 HPO NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659
JBrowse link
G PLAGL1 PLAG1 like zinc finger 1 IAGP ORPHA:99886 HPO NCBI chr 6:143,940,300...144,064,599
Ensembl chr 6:143,940,300...144,064,599
JBrowse link
G POGZ pogo transposable element derived with ZNF domain IAGP ORPHA:468678 HPO NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494
JBrowse link
G PRDM6 PR/SET domain 6 IAGP ClinVar Annotator: match by term: Abnormally shaped heart ClinVar NCBI chr 5:123,089,241...123,194,266
Ensembl chr 5:123,089,241...123,194,266
JBrowse link
G PTCH1 patched 1 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G PURA purine rich element binding protein A IAGP ORPHA:314655 HPO NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619
JBrowse link
G PUS3 pseudouridine synthase 3 IAGP ClinVar Annotator: match by term: Abnormally shaped heart ClinVar PMID:25741868 PMID:27055666 PMID:31680349 NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221
JBrowse link
G RAD51C RAD51 paralog C IAGP OMIM:613390 HPO NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611
JBrowse link
G RAI1 retinoic acid induced 1 IAGP OMIM:182290 HPO NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP ORPHA:137667 HPO NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
JBrowse link
G RASA2 RAS p21 protein activator 2 IAGP ClinVar Annotator: match by term: Abnormal heart morphology ClinVar PMID:28492532 NCBI chr 3:141,487,027...141,615,344
Ensembl chr 3:141,487,027...141,615,344
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP OMIM:218600 HPO NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G RLIM ring finger protein, LIM domain interacting IAGP OMIM:300978 HPO NCBI chr  X:74,582,976...74,614,624
Ensembl chr  X:74,582,976...74,614,624
JBrowse link
G ROBO1 roundabout guidance receptor 1 IAGP ClinVar Annotator: match by term: Abnormally shaped heart
ClinVar Annotator: match by term: Abnormal heart morphology
ClinVar PMID:25741868 PMID:26489027 PMID:27854360 PMID:28286008 PMID:28492532 More... NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998
JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP ORPHA:254525 HPO NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
JBrowse link
G RYR2 ryanodine receptor 2 IAGP ClinVar Annotator: match by term: Abnormal heart morphology ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
JBrowse link
G SAA1 serum amyloid A1 IAGP ORPHA:85445 HPO NCBI chr11:18,266,264...18,269,967
Ensembl chr11:18,266,260...18,269,977
JBrowse link
G SBDS SBDS ribosome maturation factor IAGP ORPHA:811 HPO NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,586
JBrowse link
G SETBP1 SET binding protein 1 IAGP ORPHA:798 HPO NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510
JBrowse link
G SHH sonic hedgehog signaling molecule IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SIN3A SIN3 transcription regulator family member A IAGP ORPHA:94065 HPO NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842
JBrowse link
G SIX3 SIX homeobox 3 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071
JBrowse link
G SLC7A7 solute carrier family 7 member 7 IAGP ORPHA:470 HPO NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP OMIM:614609 HPO NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426
JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP OMIM:614608 HPO NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP ORPHA:220386 HPO NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728
JBrowse link
G SMO smoothened, frizzled class receptor IAGP OMIM:241800 HPO NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Abnormally shaped heart ClinVar NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345
JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP OMIM:114290 HPO NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
JBrowse link
G SRP54 signal recognition particle 54 IAGP ORPHA:811 HPO NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686
JBrowse link
G STAG2 stromal antigen 2 IAGP ORPHA:93925 HPO NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP ORPHA:99885 HPO NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,540
JBrowse link
G STIL STIL centriolar assembly protein IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892
JBrowse link
G TAF1 TATA-box binding protein associated factor 1 IAGP ClinVar Annotator: match by term: congenital heart defect ClinVar PMID:26637982 PMID:32396742 PMID:33098347 NCBI chr  X:71,366,357...71,530,525
Ensembl chr  X:71,366,222...71,532,374
JBrowse link
G TBX5 T-box transcription factor 5 IAGP ClinVar Annotator: match by term: Abnormally shaped heart ClinVar PMID:10077612 PMID:10077762 PMID:12499378 PMID:12789647 PMID:16380715 More... NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442
JBrowse link
G TCOF1 treacle ribosome biogenesis factor 1 IAGP OMIM:154500 HPO NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308
JBrowse link
G TCTN3 tectonic family member 3 IAGP ORPHA:2754 HPO NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
JBrowse link
G TDGF1 teratocarcinoma-derived growth factor 1 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457
JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978
JBrowse link
G TMEM216 transmembrane protein 216 IAGP ORPHA:2754 HPO NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866
JBrowse link
G TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase IAGP ORPHA:2754 HPO NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586
JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP OMIM:101400 HPO NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP OMIM:235730 HPO NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
JBrowse link
G ZFP57 ZFP57 zinc finger protein IAGP ORPHA:99886 HPO NCBI chr 6:29,672,392...29,681,152
Ensembl chr 6:29,672,483...29,681,155
JBrowse link
G ZIC2 Zic family member 2 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765
JBrowse link
G ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 IAGP ClinVar Annotator: match by term: Abnormally shaped heart ClinVar PMID:25679214 PMID:25741868 PMID:31680349 NCBI chr  X:15,790,484...15,823,260
Ensembl chr  X:15,790,156...15,830,694
JBrowse link
Abnormal heart valve morphology 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 IAGP ORPHA:1517 HPO NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543
JBrowse link
G ARF1 ADP ribosylation factor 1 IAGP ORPHA:98892 HPO NCBI chr 1:228,082,708...228,099,212
Ensembl chr 1:228,082,660...228,099,212
JBrowse link
G ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 IAGP ORPHA:98892 HPO NCBI chr20:48,921,711...49,036,693
Ensembl chr20:48,921,711...49,036,693
JBrowse link
G ARSB arylsulfatase B IAGP OMIM:253200 HPO NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087
JBrowse link
G BIN1 bridging integrator 1 IAGP ORPHA:169186 HPO NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ORPHA:1340 HPO NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CASZ1 castor zinc finger 1 IAGP ORPHA:1606 HPO NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650
JBrowse link
G CHST14 carbohydrate sulfotransferase 14 IAGP ORPHA:2953 HPO NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158
JBrowse link
G CPLX1 complexin 1 IAGP ORPHA:280 HPO NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP ORPHA:280 HPO NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,249,953
JBrowse link
G DNASE1L3 deoxyribonuclease 1 like 3 IAGP ORPHA:36412 HPO NCBI chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697
JBrowse link
G DSE dermatan sulfate epimerase IAGP ORPHA:2953 HPO NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861
JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP ORPHA:289 HPO NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
JBrowse link
G ERMARD ER membrane associated RNA degradation IAGP ORPHA:98892 HPO NCBI chr 6:169,751,306...169,781,600
Ensembl chr 6:169,751,622...169,781,600
JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP ORPHA:289 HPO NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305
JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP ORPHA:289 HPO NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548
JBrowse link
G FLNA filamin A IAGP ORPHA:90652 ORPHA:98892 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP ORPHA:1606 HPO NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758
JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase IAGP OMIM:253000 HPO NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,734...88,856,970
JBrowse link
G GLB1 galactosidase beta 1 IAGP OMIM:230500 HPO NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
JBrowse link
G GLI1 GLI family zinc finger 1 IAGP ORPHA:289 HPO NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268
JBrowse link
G GUSB glucuronidase beta IAGP OMIM:253220 HPO NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP ORPHA:1606 HPO NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
JBrowse link
G IDS iduronate 2-sulfatase IAGP OMIM:309900 HPO NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096
JBrowse link
G IDUA alpha-L-iduronidase IAGP ORPHA:93473 ORPHA:93476 HPO NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564
JBrowse link
G KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 IAGP ORPHA:1606 HPO NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193
JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 IAGP ORPHA:1517 HPO NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,955...21,775,600
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ORPHA:1340 HPO NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP ORPHA:280 HPO NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
JBrowse link
G LUZP1 leucine zipper protein 1 IAGP ORPHA:1606 HPO NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,177,808
JBrowse link
G MAP1B microtubule associated protein 1B IAGP ORPHA:98892 HPO NCBI chr 5:72,107,475...72,209,565
Ensembl chr 5:72,107,234...72,209,565
JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP ORPHA:1340 HPO NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656
JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP ORPHA:1340 HPO NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122
JBrowse link
G MMP23B matrix metallopeptidase 23B IAGP ORPHA:1606 HPO NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263
JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP ORPHA:98892 HPO NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540
JBrowse link
G NELFA negative elongation factor complex member A IAGP ORPHA:280 HPO NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903
JBrowse link
G NKX2-6 NK2 homeobox 6 IAGP ORPHA:3384 HPO NCBI chr 8:23,701,740...23,706,756
Ensembl chr 8:23,701,740...23,706,756
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP ORPHA:280 HPO NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
JBrowse link
G PDPN podoplanin IAGP ORPHA:1606 HPO NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G IAGP ORPHA:280 HPO NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
JBrowse link
G PLXND1 plexin D1 IAGP ORPHA:3384 HPO NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676
JBrowse link
G PRDM16 PR/SET domain 16 IAGP ORPHA:1606 HPO NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621
JBrowse link
G PRKCZ protein kinase C zeta IAGP ORPHA:1606 HPO NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395
JBrowse link
G RERE arginine-glutamic acid dipeptide repeats IAGP ORPHA:1606 HPO NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921
JBrowse link
G RYR1 ryanodine receptor 1 IAGP ORPHA:169186 HPO NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
JBrowse link
G SKI SKI proto-oncogene IAGP ORPHA:1606 HPO NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,228,319...2,310,213
JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 IAGP ORPHA:77293 HPO NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998
JBrowse link
G SPEG striated muscle enriched protein kinase IAGP ORPHA:169186 HPO NCBI chr 2:219,434,843...219,493,629
Ensembl chr 2:219,434,843...219,493,629
JBrowse link
G SPEN spen family transcriptional repressor IAGP ORPHA:1606 HPO NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456
JBrowse link
G TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 IAGP ORPHA:98892 HPO NCBI chr12:88,142,307...88,199,887
Ensembl chr12:88,142,296...88,199,887
JBrowse link
G TTN titin IAGP ORPHA:169186 HPO NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
JBrowse link
G UBE4B ubiquitination factor E4B IAGP ORPHA:1606 HPO NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239
JBrowse link
Abnormal inferior vena cava morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC103 coiled-coil domain containing 103 IAGP ORPHA:244 HPO NCBI chr17:44,899,729...44,905,390
Ensembl chr17:44,899,142...44,905,390
JBrowse link
G CCDC39 coiled-coil domain containing 39 IAGP ORPHA:244 HPO NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942
JBrowse link
G CCDC40 coiled-coil domain containing 40 IAGP ORPHA:244 HPO NCBI chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613
JBrowse link
G CCDC65 coiled-coil domain containing 65 IAGP ORPHA:244 HPO NCBI chr12:48,904,133...48,921,576
Ensembl chr12:48,904,110...48,931,840
JBrowse link
G CCNO cyclin O IAGP ORPHA:244 HPO NCBI chr 5:55,231,152...55,233,608
Ensembl chr 5:55,231,152...55,233,608
JBrowse link
G CFAP221 cilia and flagella associated protein 221 IAGP ORPHA:244 HPO NCBI chr 2:119,544,449...119,660,323
Ensembl chr 2:119,544,432...119,662,251
JBrowse link
G CFAP298 cilia and flagella associated protein 298 IAGP ORPHA:244 HPO NCBI chr21:32,599,354...32,612,377
Ensembl chr21:32,592,079...32,612,603
JBrowse link
G CFAP300 cilia and flagella associated protein 300 IAGP ORPHA:244 HPO NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,437...102,084,554
JBrowse link
G DNAAF1 dynein axonemal assembly factor 1 IAGP ORPHA:244 HPO NCBI chr16:84,145,308...84,177,920
Ensembl chr16:84,145,287...84,178,767
JBrowse link
G DNAAF11 dynein axonemal assembly factor 11 IAGP ORPHA:244 HPO NCBI chr 8:132,570,416...132,702,913
Ensembl chr 8:132,570,416...132,675,592
JBrowse link
G DNAAF2 dynein axonemal assembly factor 2 IAGP ORPHA:244 HPO NCBI chr14:49,625,174...49,635,244
Ensembl chr14:49,625,174...49,635,244
JBrowse link
G DNAAF3 dynein axonemal assembly factor 3 IAGP ORPHA:244 HPO NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722
JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 IAGP ORPHA:244 HPO NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234
JBrowse link
G DNAAF5 dynein axonemal assembly factor 5 IAGP ORPHA:244 HPO NCBI chr 7:726,699...786,475
Ensembl chr 7:726,699...786,475
JBrowse link
G DNAAF6 dynein axonemal assembly factor 6 IAGP ORPHA:244 HPO NCBI chr  X:107,206,611...107,244,247
Ensembl chr  X:107,206,611...107,244,247
JBrowse link
G DNAH1 dynein axonemal heavy chain 1 IAGP ORPHA:244 HPO NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492
JBrowse link
G DNAH11 dynein axonemal heavy chain 11 IAGP ORPHA:244 HPO NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839
JBrowse link
G DNAH5 dynein axonemal heavy chain 5 IAGP ORPHA:244 HPO NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818
JBrowse link
G DNAH9 dynein axonemal heavy chain 9 IAGP ORPHA:244 HPO NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748
JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 IAGP ORPHA:244 HPO NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988
JBrowse link
G DNAI2 dynein axonemal intermediate chain 2 IAGP ORPHA:244 HPO NCBI chr17:74,274,234...74,314,884
Ensembl chr17:74,274,234...74,314,884
JBrowse link
G DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 IAGP ORPHA:244 HPO NCBI chr11:73,951,026...73,970,281
Ensembl chr11:73,951,026...73,970,366
JBrowse link
G DNAL1 dynein axonemal light chain 1 IAGP ORPHA:244 HPO NCBI chr14:73,644,986...73,703,732
Ensembl chr14:73,644,875...73,703,732
JBrowse link
G DRC1 dynein regulatory complex subunit 1 IAGP ORPHA:244 HPO NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711
JBrowse link
G FOXJ1 forkhead box J1 IAGP ORPHA:244 HPO NCBI chr17:76,136,333...76,141,245
Ensembl chr17:76,136,333...76,141,245
JBrowse link
G GAS2L2 growth arrest specific 2 like 2 IAGP ORPHA:244 HPO NCBI chr17:35,744,511...35,753,239
Ensembl chr17:35,744,511...35,753,239
JBrowse link
G GAS8 growth arrest specific 8 IAGP ORPHA:244 HPO NCBI chr16:90,019,633...90,044,960
Ensembl chr16:90,019,629...90,044,975
JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein IAGP ORPHA:244 HPO NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ORPHA:244 HPO NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
JBrowse link
G MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein IAGP ORPHA:244 HPO NCBI chr 5:55,219,564...55,227,315
Ensembl chr 5:55,219,564...55,227,315
JBrowse link
G NEK10 NIMA related kinase 10 IAGP ORPHA:244 HPO NCBI chr 3:27,106,484...27,369,383
Ensembl chr 3:27,106,484...27,369,460
JBrowse link
G NME8 NME/NM23 family member 8 IAGP ORPHA:244 HPO NCBI chr 7:37,848,597...37,900,397
Ensembl chr 7:37,848,597...37,900,397
JBrowse link
G ODAD1 outer dynein arm docking complex subunit 1 IAGP ORPHA:244 HPO NCBI chr19:48,296,452...48,321,971
Ensembl chr19:48,296,457...48,321,971
JBrowse link
G ODAD2 outer dynein arm docking complex subunit 2 IAGP ORPHA:244 HPO NCBI chr10:27,812,168...27,999,675
Ensembl chr10:27,775,186...27,999,079
JBrowse link
G ODAD3 outer dynein arm docking complex subunit 3 IAGP ORPHA:244 HPO NCBI chr19:11,420,605...11,435,782
Ensembl chr19:11,420,604...11,435,782
JBrowse link
G ODAD4 outer dynein arm docking complex subunit 4 IAGP ORPHA:244 HPO NCBI chr17:41,930,617...41,966,503
Ensembl chr17:41,930,617...41,966,503
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP ORPHA:244 HPO NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G RPGR retinitis pigmentosa GTPase regulator IAGP ORPHA:244 HPO NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544
JBrowse link
G RSPH1 radial spoke head component 1 IAGP ORPHA:244 HPO NCBI chr21:42,472,486...42,496,224
Ensembl chr21:42,472,486...42,496,246
JBrowse link
G RSPH3 radial spoke head 3 IAGP ORPHA:244 HPO NCBI chr 6:158,962,980...159,000,202
Ensembl chr 6:158,972,871...159,000,202
JBrowse link
G RSPH4A radial spoke head component 4A IAGP ORPHA:244 HPO NCBI chr 6:116,616,479...116,632,985
Ensembl chr 6:116,616,479...116,632,985
JBrowse link
G RSPH9 radial spoke head component 9 IAGP ORPHA:244 HPO NCBI chr 6:43,645,036...43,672,600
Ensembl chr 6:43,645,036...43,672,600
JBrowse link
G SPAG1 sperm associated antigen 1 IAGP ORPHA:244 HPO NCBI chr 8:100,158,038...100,241,904
Ensembl chr 8:100,157,906...100,259,278
JBrowse link
G SPEF2 sperm flagellar 2 IAGP ORPHA:244 HPO NCBI chr 5:35,617,863...35,814,611
Ensembl chr 5:35,617,844...35,814,611
JBrowse link
G STK36 serine/threonine kinase 36 IAGP ORPHA:244 HPO NCBI chr 2:218,672,086...218,702,717
Ensembl chr 2:218,672,069...218,702,716
JBrowse link
G TTC12 tetratricopeptide repeat domain 12 IAGP ORPHA:244 HPO NCBI chr11:113,314,583...113,373,297
Ensembl chr11:113,314,579...113,383,544
JBrowse link
G ZMYND10 zinc finger MYND-type containing 10 IAGP ORPHA:244 HPO NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732
JBrowse link
Abnormal internal carotid artery morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG5 ATP binding cassette subfamily G member 5 IAGP ORPHA:391665 HPO NCBI chr 2:43,806,211...43,839,231
Ensembl chr 2:43,812,472...43,838,865
JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 IAGP ORPHA:391665 HPO NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988
JBrowse link
G APOB apolipoprotein B IAGP ORPHA:391665 HPO NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G LDLR low density lipoprotein receptor IAGP ORPHA:391665 HPO NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,462...11,133,820
JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 IAGP ORPHA:391665 HPO NCBI chr 1:25,543,606...25,590,400
Ensembl chr 1:25,543,606...25,568,886
JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP ORPHA:2177 HPO NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691
JBrowse link
G NF1 neurofibromin 1 IAGP ORPHA:97685 HPO NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 IAGP ORPHA:391665 HPO NCBI chr 1:55,039,548...55,064,852
Ensembl chr 1:55,039,447...55,064,852
JBrowse link
Abnormal left ventricle morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRDM16 PR/SET domain 16 IAGP OMIM:615373 HPO NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621
JBrowse link
Abnormal left ventricular outflow tract morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP ORPHA:79328 HPO NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581
JBrowse link
G GATA5 GATA binding protein 5 IAGP ORPHA:402075 HPO NCBI chr20:62,463,497...62,475,995
Ensembl chr20:62,463,497...62,475,995
JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP ORPHA:402075 HPO NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
JBrowse link
G NOTCH1 notch receptor 1 IAGP ORPHA:402075 HPO NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G SMAD6 SMAD family member 6 IAGP ORPHA:402075 HPO NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849
JBrowse link
Abnormal lymphatic vessel morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD40 CD40 molecule IAGP associated with breast cancer, DNA:snps:5' utr, intron:c.-1T>C, c.51+914T>G (rs1883832, rs4810485) RGD PMID:21912605 RGD:8547780 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
JBrowse link
G CLU clusterin IAGP associated with breast cancer, DNA:snp:promoter:g.27611345C>G (rs9331888) RGD PMID:22037783 RGD:8963167 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
JBrowse link
G COMT catechol-O-methyltransferase IAGP associated with breast cancer, DNA:missense mutation:cds:p.V108/158M RGD PMID:10755383 RGD:8662330 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP associated with breast cancer, DNA:snp:intron:c.109+7033T>A (rs1219648) RGD PMID:20640597 RGD:7394846 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G MMP3 matrix metallopeptidase 3 IAGP associated with breast cancer, DNA:deletion:promoter:-1170_-1172delA RGD PMID:15161710 RGD:8662937 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP ORPHA:90307 HPO NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
JBrowse link
Abnormal mitral valve morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTC1 actin alpha cardiac muscle 1 IAGP ORPHA:99103 HPO NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,230...34,795,549
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP OMIM:613707 HPO NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP ORPHA:7 HPO NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520
JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 IAGP ORPHA:99103 HPO NCBI chr 6:139,371,807...139,374,648
Ensembl chr 6:139,371,807...139,374,648
JBrowse link
G GATA4 GATA binding protein 4 IAGP ORPHA:99103 HPO NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
JBrowse link
G GATA6 GATA binding protein 6 IAGP ORPHA:99103 HPO NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP ORPHA:576 HPO NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphism:cds:HLA-DRB1*13 RGD PMID:16426242 RGD:5147643 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G IDS iduronate 2-sulfatase IAGP ORPHA:217093 HPO NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096
JBrowse link
G MYH6 myosin heavy chain 6 IAGP ORPHA:99103 HPO NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP ORPHA:99103 HPO NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP ORPHA:192 HPO NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519
JBrowse link
G TBX20 T-box transcription factor 20 IAGP ORPHA:99103 HPO NCBI chr 7:35,202,430...35,254,100
Ensembl chr 7:35,202,430...35,254,100
JBrowse link
G TLL1 tolloid like 1 IAGP ORPHA:99103 HPO NCBI chr 4:165,873,237...166,104,457
Ensembl chr 4:165,873,237...166,104,457
JBrowse link
G WASHC5 WASH complex subunit 5 IAGP ORPHA:7 HPO NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819
JBrowse link
Abnormal morphology of right ventricular trabeculae term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JUP junction plakoglobin IAGP OMIM:601214 HPO NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931
JBrowse link
Abnormal morphology of the great vessels term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TELO2 telomere maintenance 2 IAGP ORPHA:488642 HPO NCBI chr16:1,493,360...1,510,454
Ensembl chr16:1,493,344...1,510,457
JBrowse link
Abnormal myocardium morphology term browser
Symbol Object Name Qualifiers Evidence