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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:arteriovenous malformation
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Accession:DOID:11294 term browser browse the term
Definition:A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system. (DO)
Synonyms:exact_synonym: arteriovenous hemangioma;   arteriovenous malformations;   cirsoid aneurysm;   racemose aneurysm;   racemose angioma;   racemose hemangioma
 primary_id: MESH:D001165
 xref: ICD10CM:I77.0;   ICDO:9123/0;   NCI:C2882
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
arteriovenous malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor, type II-like 1 IMP RGD PMID:11062473 RGD:1300250 NCBI chr15:101,026,403...101,043,217
Ensembl chr15:101,026,403...101,043,217
JBrowse link
G Eng endoglin susceptibility ISO
IMP
associated with Telangiectasia, Hereditary Hemorrhagic; RGD PMID:8728706 PMID:24520391 RGD:11041184, RGD:11041564 NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681
JBrowse link
G Ephb4 Eph receptor B4 ISO ClinVar Annotator: match by term: Arteriovenous malformation ClinVar PMID:25741868 PMID:28687708 PMID:30578106 PMID:30760892 NCBI chr 5:137,348,371...137,372,784
Ensembl chr 5:137,348,371...137,376,931
JBrowse link
G Glmn glomulin, FKBP associated protein ISO glomuvenous malformations RGD PMID:11845407 RGD:1598992 NCBI chr 5:107,696,828...107,745,754
Ensembl chr 5:107,696,833...107,745,754
JBrowse link
G Map2 microtubule-associated protein 2 ISO protein:decreased expression:hippocampus RGD PMID:20873448 RGD:6483324 NCBI chr 1:66,214,337...66,481,742
Ensembl chr 1:66,214,432...66,481,742
JBrowse link
G Mir10a microRNA 10a ISO miRNA:decreased expression:blood plasma (human) RGD PMID:23051042 RGD:155582214 NCBI chr11:96,207,991...96,208,100
Ensembl chr11:96,207,991...96,208,100
JBrowse link
G Mir193a microRNA 193a ISO miRNA:decreased expression:blood plasma (human) RGD PMID:23051042 RGD:155582214 NCBI chr11:79,602,795...79,602,860
Ensembl chr11:79,602,795...79,602,860
JBrowse link
G Mir210 microRNA 210 ISO associated with hereditary hemorrhagic telangiectasia; miRNA:increased expression:blood plasma (human) RGD PMID:23051042 RGD:155582214 NCBI chr 7:140,801,297...140,801,406
Ensembl chr 7:140,801,297...140,801,406
JBrowse link
G Mir214 microRNA 214 ISO miRNA:increased expression:blood plasma (human) RGD PMID:23051042 RGD:155582214 NCBI chr 1:162,050,937...162,051,046
Ensembl chr 1:162,050,937...162,051,046
JBrowse link
G Mir34a microRNA 34a ISO miRNA:increased expression:blood plasma (human) RGD PMID:23051042 RGD:155582214 NCBI chr 4:150,152,911...150,153,012
Ensembl chr 4:150,152,911...150,153,012
JBrowse link
G Mir486 microRNA 486 ISO miRNA:increased expression:blood plasma (human) RGD PMID:23051042 RGD:155582214 NCBI chr 8:23,632,571...23,632,698
Ensembl chr 8:23,632,571...23,632,698
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16720380 RGD:1582655 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Arteriovenous malformation ClinVar NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635
JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:14639529 PMID:15917201 RGD:1581296 NCBI chr13:85,362,893...85,437,487
Ensembl chr13:85,362,899...85,437,249
JBrowse link
G Tek TEK receptor tyrosine kinase susceptibility ISO DNA:missense mutation: :p.R849W RGD PMID:8980225 RGD:1578533 NCBI chr 4:94,627,322...94,763,213
Ensembl chr 4:94,627,526...94,763,213
JBrowse link
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chr 5:3,739,999...3,853,124
Ensembl chr 5:3,740,000...3,852,925
JBrowse link
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:3,853,156...3,894,515
Ensembl chr 5:3,853,184...3,895,564
JBrowse link
Arteriovenous Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme treatment ISO protein:increased activity:heart left ventricle (rat) RGD PMID:22768235 PMID:8386093 RGD:12859285, RGD:12880017 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
JBrowse link
G Ackr1 atypical chemokine receptor 1 (Duffy blood group) ISO RGD PMID:24429330 RGD:9681736 NCBI chr 1:173,159,457...173,161,079
Ensembl chr 1:173,159,453...173,161,317
JBrowse link
G Angpt2 angiopoietin 2 ISO mRNA:increased expression:lung (rat) RGD PMID:18692629 RGD:2314184 NCBI chr 8:18,740,279...18,791,578
Ensembl chr 8:18,740,279...18,791,578
JBrowse link
G Arrb1 arrestin, beta 1 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr 7:99,184,356...99,255,979
Ensembl chr 7:99,184,673...99,255,978
JBrowse link
G Arrb2 arrestin, beta 2 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr11:70,323,051...70,331,654
Ensembl chr11:70,323,461...70,331,654
JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO in Long Evans rats;mRNA:increased expression:aorta RGD PMID:16428894 RGD:8552771 NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868
JBrowse link
G Des desmin ISO RGD PMID:10591032 RGD:13525010 NCBI chr 1:75,336,936...75,345,223
Ensembl chr 1:75,336,973...75,345,223
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:10541235 RGD:8655590 NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO
IDA
protein:increased expression:ileal vein RGD PMID:17398390 PMID:23924957 RGD:1642040, RGD:13204800 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO
IDA
RGD PMID:17398390 PMID:23924957 RGD:1642040, RGD:13204800 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO protein:increased expression:vena cava RGD PMID:17344190 RGD:2292146 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
JBrowse link
G Rbp4 retinol binding protein 4, plasma exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:33556944 RGD:329845868 NCBI chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729
JBrowse link
G Timp4 tissue inhibitor of metalloproteinase 4 ISO protein:decreased expression:ileal vein RGD PMID:17398390 RGD:1642040 NCBI chr 6:115,221,405...115,229,166
Ensembl chr 6:115,218,853...115,229,166
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:brain cortex, brain dura mater: RGD PMID:24626343 PMID:10541235 RGD:8551823, RGD:8655590 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
JBrowse link
arteriovenous malformations of the brain term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor, type II-like 1 IAGP OMIM:108010 MouseDO NCBI chr15:101,026,403...101,043,217
Ensembl chr15:101,026,403...101,043,217
JBrowse link
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273
JBrowse link
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397
JBrowse link
G Cacna1h calcium channel, voltage-dependent, T type, alpha 1H subunit ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:28492532 NCBI chr17:25,593,259...25,655,308
Ensembl chr17:25,593,259...25,652,759
JBrowse link
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr18:16,721,934...16,942,303
Ensembl chr18:16,721,934...16,942,303
JBrowse link
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158
JBrowse link
G Eng endoglin disease_progression ISO
IAGP
IMP
DNA:polymorphism: : 207G>A(human)
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
OMIM:108010
ClinVar
MouseDO
RGD
PMID:15879500 PMID:25741868 PMID:28492532 PMID:30120215 PMID:24876084 More... RGD:11041171, RGD:11041564 NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681
JBrowse link
G Flt1 FMS-like tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821
JBrowse link
G Gli2 GLI-Kruppel family member GLI2 ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:25741868 NCBI chr 1:118,761,791...118,987,578
Ensembl chr 1:118,761,862...118,981,349
JBrowse link
G Il17rd interleukin 17 receptor D ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25636053 PMID:25741868 PMID:28492532 PMID:32389901 NCBI chr14:26,760,990...26,829,243
Ensembl chr14:26,760,898...26,829,243
JBrowse link
G Il6 interleukin 6 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
OMIM
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
JBrowse link
G Kdr kinase insert domain protein receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118
JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO
IAGP
ClinVar Annotator: match by term: Arteriovenous malformations of the brain
ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation
CTD Direct Evidence: marker/mechanism
OMIM:108010
OMIM
ClinVar
CTD
MouseDO
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 More... NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
JBrowse link
G Lemd3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr10:120,759,316...120,815,491
Ensembl chr10:120,759,318...120,815,237
JBrowse link
G Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 1:39,939,806...40,065,470
Ensembl chr 1:39,940,073...40,065,470
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar NCBI chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782
JBrowse link
G Notch4 notch 4 IMP
IAGP
ISO
OMIM:108010
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
MouseDO
ClinVar
RGD
PMID:25741868 PMID:27231971 PMID:19546852 RGD:6480671 NCBI chr17:34,783,257...34,807,517
Ensembl chr17:34,783,242...34,807,477
JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:9536098 PMID:16329096 PMID:17576681 PMID:24466005 PMID:25122144 More... NCBI chr 3:75,423,797...75,464,159
Ensembl chr 3:75,423,797...75,464,163
JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr11:71,938,354...72,026,715
Ensembl chr11:71,938,354...72,026,604
JBrowse link
G Prex2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 1:11,063,496...11,373,907
Ensembl chr 1:11,063,689...11,373,905
JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 3:108,332,180...108,352,575
Ensembl chr 3:108,332,181...108,352,525
JBrowse link
G Scube2 signal peptide, CUB domain, EGF-like 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 7:109,397,897...109,464,886
Ensembl chr 7:109,397,883...109,464,886
JBrowse link
G Syn3 synapsin III ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr10:85,884,610...86,336,730
Ensembl chr10:85,890,989...86,334,760
JBrowse link
G Timp3 tissue inhibitor of metalloproteinase 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr10:86,136,276...86,185,369
Ensembl chr10:86,136,236...86,185,370
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:16388189 RGD:1580567 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
JBrowse link
G Zfyve16 zinc finger, FYVE domain containing 16 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr13:92,624,257...92,667,318
Ensembl chr13:92,623,616...92,667,376
JBrowse link
Capillary Malformation-Arteriovenous Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome ClinVar PMID:9219684 PMID:9536098 PMID:14639529 PMID:15574420 PMID:16199547 More... NCBI chr13:85,337,504...85,361,850
Ensembl chr13:85,337,527...85,371,588
JBrowse link
G Ephb4 Eph receptor B4 ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome ClinVar PMID:25741868 NCBI chr 5:137,348,371...137,372,784
Ensembl chr 5:137,348,371...137,376,931
JBrowse link
G Rasa1 RAS p21 protein activator 1 susceptibility ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9219684 PMID:9536098 PMID:14639529 PMID:15574420 PMID:16199547 More... RGD:734495 NCBI chr13:85,362,893...85,437,487
Ensembl chr13:85,362,899...85,437,249
JBrowse link
G Stambp STAM binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chr 6:83,520,188...83,552,781
Ensembl chr 6:83,520,193...83,549,711
JBrowse link
Capillary Malformation-Arteriovenous Malformation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar PMID:9219684 PMID:14639529 PMID:15574420 PMID:16199547 PMID:18363760 More... NCBI chr13:85,337,504...85,361,850
Ensembl chr13:85,337,527...85,371,588
JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 More... NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635
JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 OMIM
ClinVar
PMID:9219684 PMID:14639529 PMID:15574420 PMID:16199547 PMID:18363760 More... NCBI chr13:85,362,893...85,437,487
Ensembl chr13:85,362,899...85,437,249
JBrowse link
Capillary Malformation-Arteriovenous Malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 Eph receptor B4 ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 | ClinVar Annotator: match by term: EPHB4-related condition | ClinVar Annotator: match by term: EPHB4-related disorders OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21348050 PMID:25741868 More... NCBI chr 5:137,348,371...137,372,784
Ensembl chr 5:137,348,371...137,376,931
JBrowse link
G Slc12a9 solute carrier family 12 (potassium/chloride transporters), member 9 ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 ClinVar PMID:25741868 PMID:28492532 PMID:28687708 NCBI chr 5:137,312,820...137,338,331
Ensembl chr 5:137,312,820...137,331,859
JBrowse link
CEREBROFACIAL ARTERIOVENOUS METAMERIC SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gna14 guanine nucleotide binding protein, alpha 14 ISO ClinVar Annotator: match by term: Cerebrofacial arteriovenous metameric syndrome ClinVar NCBI chr19:16,413,031...16,590,706
Ensembl chr19:16,413,126...16,588,184
JBrowse link
CLAPO Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: CLAPO syndrome | ClinVar Annotator: match by term: Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth OMIM
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635
JBrowse link
Microcephaly-Capillary Malformation Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stambp STAM binding protein ISO ClinVar Annotator: match by term: Microcephaly-capillary malformation syndrome | ClinVar Annotator: match by term: STAMBP-related condition OMIM
ClinVar
PMID:18414213 PMID:21271646 PMID:21815250 PMID:23542699 PMID:25326635 More... NCBI chr 6:83,520,188...83,552,781
Ensembl chr 6:83,520,193...83,549,711
JBrowse link
multiple cutaneous and mucosal venous malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja4 gap junction protein, alpha 4 ISO ClinVar Annotator: match by term: Cutaneous venous malformation ClinVar PMID:33912852 NCBI chr 4:127,205,213...127,207,832
Ensembl chr 4:127,205,214...127,207,832
JBrowse link
G Tek TEK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Multiple cutaneous and mucosal venous malformations | ClinVar Annotator: match by term: Segmental undergrowth associated with venous malformation without capillary component
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7783168 PMID:7833915 PMID:8415706 PMID:8980225 PMID:9926914 More... NCBI chr 4:94,627,322...94,763,213
Ensembl chr 4:94,627,526...94,763,213
JBrowse link
Vein of Galen Aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:23991001 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30578106 NCBI chr16:93,715,919...93,809,733
Ensembl chr16:93,715,919...93,809,696
JBrowse link
G Ephb4 Eph receptor B4 ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 5:137,348,371...137,372,784
Ensembl chr 5:137,348,371...137,376,931
JBrowse link
G Kat6a K(lysine) acetyltransferase 6A ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 8:23,349,458...23,433,275
Ensembl chr 8:23,349,551...23,433,275
JBrowse link
G Kel Kell blood group ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 6:41,663,263...41,681,268
Ensembl chr 6:41,663,264...41,681,273
JBrowse link
G Kmt2d lysine (K)-specific methyltransferase 2D ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:28492532 PMID:30578106 NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085
JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr19:26,582,578...26,755,721
Ensembl chr19:26,582,450...26,755,722
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16223
    disease of cellular proliferation 7739
      benign neoplasm 2216
        cell type benign neoplasm 1954
          hemangioma 118
            arteriovenous malformation 63
              Arteriovenous Fistula + 16
              CLAPO Syndrome 1
              Capillary Malformation-Arteriovenous Malformation + 7
              Microcephaly-Capillary Malformation Syndrome 1
              Spinal Arterial Venous Malformations with Cutaneous Hemangiomas 0
              arteriovenous malformations of the brain + 33
              multiple cutaneous and mucosal venous malformations 2
Path 2
Term Annotations click to browse term
  disease 16223
    disease of cellular proliferation 7739
      Neoplasms by Site 7198
        organ system benign neoplasm 1277
          cardiovascular organ benign neoplasm 133
            hemangioma 118
              arteriovenous malformation 63
                Arteriovenous Fistula + 16
                CLAPO Syndrome 1
                Capillary Malformation-Arteriovenous Malformation + 7
                Microcephaly-Capillary Malformation Syndrome 1
                Spinal Arterial Venous Malformations with Cutaneous Hemangiomas 0
                arteriovenous malformations of the brain + 33
                multiple cutaneous and mucosal venous malformations 2
paths to the root