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MAMMALIAN PHENOTYPE - ANNOTATIONS

The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term:arteriovenous malformation
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Accession:MP:0006093 term browser browse the term
Definition:fusion of an artery and vein without an intervening capillary bed
Synonyms:exact_synonym: AVM;   arteriovenous fistula


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arteriovenous malformation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700067K01Rik RIKEN cDNA 1700067K01 gene IEA MGI NCBI chr 8:84,727,145...84,731,399
Ensembl chr 8:84,728,131...84,731,399 		JBrowse link
G 4933434E20Rik RIKEN cDNA 4933434E20 gene IEA MGI NCBI chr 3:89,958,941...89,969,754
Ensembl chr 3:89,958,943...89,970,648
Ensembl chr 3:89,958,943...89,970,648 		JBrowse link
G Actn4 actinin alpha 4 IEA MGI NCBI chr 7:28,592,673...28,661,799
Ensembl chr 7:28,592,673...28,661,765 		JBrowse link
G Acvrl1 activin A receptor, type II-like 1 IAGP MGI PMID:10716993 PMID:11062473 PMID:17911384 PMID:19805914 PMID:25082229 NCBI chr15:101,026,403...101,043,217
Ensembl chr15:101,026,403...101,043,217 		JBrowse link
G Bmp10 bone morphogenetic protein 10 IAGP MGI PMID:23812757 NCBI chr 6:87,405,976...87,411,494
Ensembl chr 6:87,405,976...87,414,659 		JBrowse link
G Chtop chromatin target of PRMT1 IEA MGI NCBI chr 3:90,405,846...90,417,400
Ensembl chr 3:90,406,263...90,416,805 		JBrowse link
G Col4a2 collagen, type IV, alpha 2 IEA MGI NCBI chr 8:11,362,878...11,499,287
Ensembl chr 8:11,362,805...11,499,287 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 IAGP MGI PMID:15466160 NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443 		JBrowse link
G Eng endoglin IAGP MGI PMID:24520391 PMID:25082229 NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681 		JBrowse link
G Fut8 fucosyltransferase 8 IEA MGI NCBI chr12:77,284,878...77,522,770
Ensembl chr12:77,284,899...77,523,112 		JBrowse link
G Gdf2 growth differentiation factor 2 IAGP MGI PMID:22566602 NCBI chr14:33,662,996...33,669,155
Ensembl chr14:33,662,996...33,669,155 		JBrowse link
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano IAGP MGI PMID:19805914 PMID:24520391 PMID:25082229 NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294 		JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog IAGP MGI PMID:32552404 NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
G Mgp matrix Gla protein IAGP MGI PMID:21765215 NCBI chr 6:136,849,433...136,852,821
Ensembl chr 6:136,849,433...136,852,821 		JBrowse link
G Myo9a myosin IXa IEA MGI NCBI chr 9:59,658,128...59,836,149
Ensembl chr 9:59,658,179...59,836,149 		JBrowse link
G Notch1 notch 1 IAGP MGI PMID:26563570 NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675 		JBrowse link
G Notch3 notch 3 IAGP MGI PMID:26563570 NCBI chr17:32,339,794...32,385,869
Ensembl chr17:32,339,794...32,385,826 		JBrowse link
G Prrc2b proline-rich coiled-coil 2B IEA MGI NCBI chr 2:32,041,002...32,124,549
Ensembl chr 2:32,041,094...32,124,549 		JBrowse link
G Rbpj recombination signal binding protein for immunoglobulin kappa J region IAGP MGI PMID:15466160 NCBI chr 5:53,713,121...53,814,787
Ensembl chr 5:53,623,494...53,814,704 		JBrowse link
G Slc20a2 solute carrier family 20, member 2 IEA MGI NCBI chr 8:22,966,771...23,059,632
Ensembl chr 8:22,966,804...23,059,628 		JBrowse link
G Tmem100 transmembrane protein 100 IAGP MGI PMID:22783020 NCBI chr11:89,921,174...89,927,334
Ensembl chr11:89,921,174...89,927,334 		JBrowse link
cerebral arteriovenous malformation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor, type II-like 1 IAGP MGI PMID:22571958 NCBI chr15:101,026,403...101,043,217
Ensembl chr15:101,026,403...101,043,217 		JBrowse link
G Chst11 carbohydrate sulfotransferase 11 IEA MGI NCBI chr10:82,820,274...83,031,738
Ensembl chr10:82,821,332...83,031,734 		JBrowse link
G Eng endoglin IAGP MGI PMID:22571958 NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681 		JBrowse link
G Sh3pxd2a SH3 and PX domains 2A IEA MGI NCBI chr19:47,248,613...47,453,053
Ensembl chr19:47,248,613...47,452,840 		JBrowse link
G Slc25a20 solute carrier family 25 (mitochondrial carnitine/acylcarnitine translocase), member 20 IEA MGI NCBI chr 9:108,539,335...108,561,841
Ensembl chr 9:108,539,287...108,561,840 		JBrowse link
gastrointestinal arteriovenous malformation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor, type II-like 1 IAGP MGI PMID:19805914 PMID:25082229 NCBI chr15:101,026,403...101,043,217
Ensembl chr15:101,026,403...101,043,217 		JBrowse link
G Eng endoglin IAGP MGI PMID:24520391 NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681 		JBrowse link
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano IAGP MGI PMID:19805914 NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294 		JBrowse link
pulmonary arteriovenous malformation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor, type II-like 1 IAGP MGI PMID:19805914 NCBI chr15:101,026,403...101,043,217
Ensembl chr15:101,026,403...101,043,217 		JBrowse link
G Mgp matrix Gla protein IAGP MGI PMID:21765215 NCBI chr 6:136,849,433...136,852,821
Ensembl chr 6:136,849,433...136,852,821 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 16965
    cardiovascular system phenotype 4207
      abnormal cardiovascular system morphology 3313
        abnormal blood vessel morphology 1742
          arteriovenous malformation 24
            cerebral arteriovenous malformation 5
            gastrointestinal arteriovenous malformation 3
            hepatic arteriovenous malformation 0
            pulmonary arteriovenous malformation 2
paths to the root