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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:Vascular Malformations
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Accession:DOID:9003191 term browser browse the term
Definition:A spectrum of congenital, inherited, or acquired abnormalities in BLOOD VESSELS that can adversely affect the normal blood flow in ARTERIES or VEINS. Most are congenital defects such as abnormal communications between blood vessels (fistula), shunting of arterial blood directly into veins bypassing the CAPILLARIES (arteriovenous malformations), formation of large dilated blood blood-filled vessels (cavernous angioma), and swollen capillaries (capillary telangiectases). In rare cases, vascular malformations can result from trauma or diseases.
Synonyms:exact_synonym: Vascular Malformation
 primary_id: MESH:D054079;   RDO:0004910
For additional species annotation, visit the Alliance of Genome Resources.



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Vascular Malformations 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 DNA:missense mutation:exon 20:p.H1047R (mouse) RGD PMID:25958091 RGD:13207411 NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
JBrowse link
G YES1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr18:13,513,124...13,605,379
Ensembl chr18:15,848,765...17,245,246
JBrowse link
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 7:84,243,929...84,399,358
Ensembl chr 7:97,841,233...97,995,816
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 7:84,197,200...84,244,050
Ensembl chr 7:97,794,531...97,840,895
JBrowse link
arterial tortuosity syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr10:85,660,983...85,678,729
Ensembl chr10:89,164,344...89,182,080
JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 ISO DNA:missense mutation:CDS:p.D203A (human) RGD PMID:22943132 RGD:42722010 NCBI chr11:61,226,755...61,233,181
Ensembl chr11:64,555,877...64,561,950
JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr  X:143,799,088...143,825,282 JBrowse link
G SLC2A10 solute carrier family 2 member 10 ISO OMIM NCBI chr20:43,043,801...43,068,304
Ensembl chr20:44,128,837...44,153,148
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:8386093 PMID:22768235 RGD:12859285 RGD:12880017 NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
JBrowse link
G ACKR1 atypical chemokine receptor 1 (Duffy blood group) ISO RGD PMID:24429330 RGD:9681736 NCBI chr 1:134,554,406...134,557,386
Ensembl chr 1:138,352,086...138,354,733
JBrowse link
G ANGPT2 angiopoietin 2 ISO mRNA:increased expression:lung (rat) RGD PMID:18692629 RGD:2314184 NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915
JBrowse link
G ARRB1 arrestin beta 1 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr11:70,319,935...70,411,276
Ensembl chr11:73,630,276...73,654,155
JBrowse link
G ARRB2 arrestin beta 2 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr17:4,766,616...4,777,253
Ensembl chr17:4,757,048...4,767,517
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO in Long Evans rats;mRNA:increased expression:aorta RGD PMID:16428894 RGD:8552771 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G DES desmin ISO RGD PMID:10591032 RGD:13525010 NCBI chr2B:106,675,761...106,684,129
Ensembl chr2B:225,266,261...225,273,604
JBrowse link
G FGF2 fibroblast growth factor 2 ISO RGD PMID:10541235 RGD:8655590 NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO protein:increased expression:ileal vein RGD PMID:17398390 PMID:23924957 RGD:13204800 RGD:1642040 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:17398390 PMID:23924957 RGD:13204800 RGD:1642040 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:increased expression:vena cava RGD PMID:17344190 RGD:2292146 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO protein:decreased expression:ileal vein RGD PMID:17398390 RGD:1642040 NCBI chr 3:12,079,195...12,087,485
Ensembl chr 3:12,425,429...12,433,192
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:brain cortex, brain dura mater: RGD PMID:10541235 PMID:24626343 RGD:8551823 RGD:8655590 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
JBrowse link
arteriovenous malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVRL1 activin A receptor like type 1 ISO RGD PMID:11062473 RGD:1300250 NCBI chr12:36,839,869...36,856,351
Ensembl chr12:37,615,888...37,631,691
JBrowse link
G ENG endoglin susceptibility ISO associated with Telangiectasia, Hereditary Hemorrhagic; RGD PMID:8728706 PMID:24520391 RGD:11041184 RGD:11041564 NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
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 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022
JBrowse link
G GLMN glomulin, FKBP associated protein ISO glomuvenous malformations RGD PMID:11845407 RGD:1598992 NCBI chr 1:94,907,342...94,963,052
Ensembl chr 1:93,646,499...93,701,430
JBrowse link
G MAP2 microtubule associated protein 2 ISO protein:decreased expression:hippocampus RGD PMID:20873448 RGD:6483324 NCBI chr2B:96,681,268...96,991,650
Ensembl chr2B:215,314,857...215,391,728
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:16720380 RGD:1582655 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G RASA1 RAS p21 protein activator 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:14639529 PMID:15917201 RGD:1581296 NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321
JBrowse link
G TEK TEK receptor tyrosine kinase susceptibility ISO DNA:missense mutation: :p.R849W RGD PMID:8980225 RGD:1578533 NCBI chr 9:26,955,339...27,077,809
Ensembl chr 9:27,561,421...27,683,572
JBrowse link
arteriovenous malformations of the brain term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 5:24,208,844...24,811,284
Ensembl chr 5:24,341,808...24,945,477
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar Annotator: match by term: Arteriovenous malformations of the brain
ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 Ensembl chr16:1,195,364...1,222,917 JBrowse link
G CDH2 cadherin 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr18:21,210,001...21,435,919
Ensembl chr18:24,812,019...25,008,325
JBrowse link
G EGFR epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
JBrowse link
G ENG endoglin disease_progression ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation
DNA:polymorphism: : 207G>A(human)
RGD
ClinVar
PMID:16179574 PMID:24520391 PMID:24876084 PMID:25741868 RGD:11041171 RGD:11041564 RGD:1580962 NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr13:9,584,850...9,779,542 JBrowse link
G GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:25741868 NCBI chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442
JBrowse link
G IL17RD interleukin 17 receptor D ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25636053 PMID:25741868 NCBI chr 3:57,023,622...57,098,869
Ensembl chr 3:58,240,835...58,309,409
JBrowse link
G IL6 interleukin 6 ISO OMIM NCBI chr 7:23,415,922...23,420,767 JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO OMIM NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
JBrowse link
G LEMD3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr12:23,668,368...23,747,369
Ensembl chr12:24,172,749...24,252,314
JBrowse link
G MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 Ensembl chr2A:102,750,221...102,945,263 JBrowse link
G NOTCH4 notch receptor 4 ISO RGD PMID:19546852 RGD:6480671 NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978
JBrowse link
G PDCD10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430
JBrowse link
G PITPNM3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr17:6,492,567...6,595,645
Ensembl chr17:6,481,590...6,584,379
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 8:64,489,817...64,769,602
Ensembl chr 8:66,215,974...66,430,138
JBrowse link
G SARS1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 1:111,590,850...111,615,068
Ensembl chr 1:110,755,054...110,779,704
JBrowse link
G SCUBE2 signal peptide, CUB domain and EGF like domain containing 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr11:9,146,533...9,219,816
Ensembl chr11:8,888,668...8,959,677
JBrowse link
G SYN3 synapsin III ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr22:13,517,932...14,069,661
Ensembl chr22:31,373,604...31,866,798
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr22:13,811,297...13,872,799
Ensembl chr22:31,662,562...31,723,964
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:16388189 RGD:1580567 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
JBrowse link
G ZFYVE16 zinc finger FYVE-type containing 16 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 5:34,837,410...34,910,416
Ensembl chr 5:35,111,723...35,183,028
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 PMID:9536098 PMID:14639529 PMID:16199547 PMID:17576681 PMID:18446851 More... NCBI chr 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149
JBrowse link
G RASA1 RAS p21 protein activator 1 susceptibility ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9536098 PMID:14639529 PMID:16199547 PMID:17576681 PMID:18446851 More... RGD:734495 NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321
JBrowse link
G STAMBP STAM binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chr2A:73,900,128...73,936,571
Ensembl chr2A:75,410,434...75,451,086
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 PMID:14639529 PMID:18363760 PMID:18446851 PMID:23164092 PMID:24038909 More... NCBI chr 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149
JBrowse link
G RASA1 RAS p21 protein activator 1 ISO OMIM NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321
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 OMIM NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022
JBrowse link
G SLC12A9 solute carrier family 12 member 9 ISO ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2
ClinVar PMID:25741868 PMID:28687708 NCBI chr 7:92,877,655...92,891,957
Ensembl chr 7:106,274,404...106,288,392
JBrowse link
Cavernous Malformations of CNS and Retina term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRIT1 KRIT1 ankyrin repeat containing ISO ClinVar Annotator: match by term: Cavernous malformations of CNS and retina ClinVar PMID:11831930 NCBI chr 7:84,197,200...84,244,050
Ensembl chr 7:97,794,531...97,840,895
JBrowse link
Central Nervous System Vascular Malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCM2 CCM2 scaffold protein susceptibility ISO DNA:deletions: ; Cerebral cavernous malformations, OMIM:603284 RGD PMID:17160895 RGD:1600689 NCBI chr 7:45,714,413...45,791,016
Ensembl chr 7:45,808,145...45,858,828
JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO DNA:snp:cds:p.G562E (human) RGD PMID:16598045 RGD:1581204 NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
JBrowse link
Central Nervous System Venous Angioma 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: Cerebral venous angioma ClinVar PMID:23650393 PMID:25741868 PMID:31680349 NCBI chr 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149
JBrowse link
G RASA1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Cerebral venous angioma ClinVar PMID:23650393 PMID:25741868 PMID:31680349 NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321
JBrowse link
cerebral cavernous malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 7:83,942,590...84,108,648
Ensembl chr 7:97,540,356...97,705,608
JBrowse link
G ANKIB1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chr 7:84,243,929...84,399,358
Ensembl chr 7:97,841,233...97,995,816
JBrowse link
G CCM2 CCM2 scaffold protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD
ClinVar
PMID:18154020 PMID:25525273 PMID:25741868 PMID:28492532 NCBI chr 7:45,714,413...45,791,016
Ensembl chr 7:45,808,145...45,858,828
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 7:84,110,130...84,132,870
Ensembl chr 7:97,708,806...97,729,824
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr13:9,584,850...9,779,542 JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing susceptibility ISO ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral cavernous malformations 1
RGD
ClinVar
CTD
PMID:3393196 PMID:7898703 PMID:9065560 PMID:9536098 PMID:10508515 More... RGD:1358458 RGD:1598379 NCBI chr 7:84,197,200...84,244,050
Ensembl chr 7:97,794,531...97,840,895
JBrowse link
G LRRD1 leucine rich repeats and death domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 7:84,142,698...84,176,943
Ensembl chr 7:97,738,096...97,774,111
JBrowse link
G NOTCH3 notch receptor 3 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080
JBrowse link
G PDCD10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:15543491 PMID:18035376 PMID:18300272 PMID:23485406 PMID:23595507 More... NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430
JBrowse link
G PON1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26122242 RGD:11552573 NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:decreased expression:brain (human) RGD PMID:19061355 RGD:12859036 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
JBrowse link
G SERPINI1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 3:164,755,803...164,845,572
Ensembl chr 3:172,865,891...172,902,372
JBrowse link
cerebral cavernous malformation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRIT1 KRIT1 ankyrin repeat containing ISO OMIM NCBI chr 7:84,197,200...84,244,050
Ensembl chr 7:97,794,531...97,840,895
JBrowse link
cerebral cavernous malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCM2 CCM2 scaffold protein ISO OMIM NCBI chr 7:45,714,413...45,791,016
Ensembl chr 7:45,808,145...45,858,828
JBrowse link
G NACAD NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 2 ClinVar PMID:17160895 PMID:28492532 NCBI chr 7:45,794,340...45,802,532 JBrowse link
cerebral cavernous malformation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDCD10 programmed cell death 10 ISO OMIM NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430
JBrowse link
G SERPINI1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 3 ClinVar PMID:18060436 PMID:20623299 PMID:28492532 NCBI chr 3:164,755,803...164,845,572
Ensembl chr 3:172,865,891...172,902,372
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 OMIM NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
JBrowse link
CLOVES syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNA11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: CLOVE SYNDROME ClinVar PMID:25741868 PMID:27476652 NCBI chr19:2,120,398...2,149,161
Ensembl chr19:3,074,483...3,102,124
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO OMIM NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
JBrowse link
Familial Cerebral Cavernous Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:20488708 RGD:11039024 NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
JBrowse link
G CAND2 cullin associated and neddylation dissociated 2 (putative) ISO RGD PMID:31426861 RGD:18899564 NCBI chr 3:12,722,259...12,757,983
Ensembl chr 3:13,066,135...13,102,246
JBrowse link
familial multiple nevi flammei term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNA11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Capillary malformations, congenital ClinVar PMID:25741868 PMID:27476652 NCBI chr19:2,120,398...2,149,161
Ensembl chr19:3,074,483...3,102,124
JBrowse link
G GNAQ G protein subunit alpha q ISO OMIM NCBI chr 9:46,816,409...47,129,116
Ensembl chr 9:76,575,815...76,773,849
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Capillary malformations, congenital ClinVar PMID:22658544 PMID:24033266 PMID:25157968 PMID:25741868 PMID:26619011 More... NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
JBrowse link
hereditary hemorrhagic telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVRL1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:15024723 PMID:20135064 PMID:21158752 PMID:25637381 PMID:26176610 More... RGD:1300352 NCBI chr12:36,839,869...36,856,351
Ensembl chr12:37,615,888...37,631,691
JBrowse link
G AK1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 9:98,987,348...98,997,252
Ensembl chr 9:127,657,338...127,678,245
JBrowse link
G DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 9:99,055,271...99,058,058
Ensembl chr 9:127,725,780...127,729,589
JBrowse link
G ENG endoglin no_association ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia
ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutations:
DNA:mutations:multiple:
HHT1,OMIM:187300;DNA:point mutation:Y277X, DNA:deletion:exon
RGD
ClinVar
CTD
PMID:7894484 PMID:8162075 PMID:9245986 PMID:9366572 PMID:9536098 More... RGD:11035216 RGD:11041169 RGD:11041183 RGD:11041563 RGD:11041566 RGD:1300352 RGD:1580960 RGD:1601038 NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
JBrowse link
G GDF2 growth differentiation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26801773 NCBI chr10:46,520,808...46,526,414 JBrowse link
G PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 9:99,041,687...99,051,031
Ensembl chr 9:127,712,944...127,722,332
JBrowse link
G SMAD4 SMAD family member 4 ISO DNA:missense,frameshift, nonsense mutations:exons: RGD PMID:16613914 RGD:11035218 NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359
JBrowse link
G ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 9:99,027,846...99,037,025
Ensembl chr 9:127,699,013...127,708,515
JBrowse link
G ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 9:99,005,336...99,025,296
Ensembl chr 9:127,677,841...127,697,880
JBrowse link
G TNF tumor necrosis factor ISO protein:decreased expression:blood, lymphocyte RGD PMID:16611101 RGD:10450733 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
Hereditary Hemorrhagic Telangiectasia, Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVRL1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia type 1 ClinVar PMID:9536098 PMID:15024723 PMID:15065824 PMID:15517393 PMID:15712271 More... NCBI chr12:36,839,869...36,856,351
Ensembl chr12:37,615,888...37,631,691
JBrowse link
G ENG endoglin ISO OMIM NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
JBrowse link
G SMAD4 SMAD family member 4 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia type 1 ClinVar NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO protein:decreased expression:plasma: RGD PMID:15907823 RGD:11041166 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
JBrowse link
Hereditary Hemorrhagic Telangiectasia, Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVRL1 activin A receptor like type 1 ISO OMIM NCBI chr12:36,839,869...36,856,351
Ensembl chr12:37,615,888...37,631,691
JBrowse link
G ENG endoglin ISO ClinVar Annotator: match by term: Oral cavity telangiectasia ClinVar PMID:25741868 NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
JBrowse link
Hereditary Hemorrhagic Telangiectasia, Type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF2 growth differentiation factor 2 ISO OMIM NCBI chr10:46,520,808...46,526,414 JBrowse link
Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRIT1 KRIT1 ankyrin repeat containing ISO ClinVar Annotator: match by term: Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations ClinVar PMID:10814716 NCBI chr 7:84,197,200...84,244,050
Ensembl chr 7:97,794,531...97,840,895
JBrowse link
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMAD4 SMAD family member 4 ISO OMIM NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359
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 OMIM NCBI chr2A:73,900,128...73,936,571
Ensembl chr2A:75,410,434...75,451,086
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 NCBI chr 1:34,059,901...34,063,181 JBrowse link
G TEK TEK receptor tyrosine kinase ISO OMIM NCBI chr 9:26,955,339...27,077,809
Ensembl chr 9:27,561,421...27,683,572
JBrowse link
Patent Ductus Venosus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO RGD PMID:24924401 RGD:14700900 Ensembl chr10:134,839,025...134,852,719 JBrowse link
Primary Intraosseous Vascular Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELMO2 engulfment and cell motility 2 ISO OMIM NCBI chr20:42,702,930...42,770,211
Ensembl chr20:43,788,090...43,828,693
JBrowse link
Pulmonary Atresia with Intact Ventricular Septum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Pulmonary atresia with intact ventricular septum ClinVar PMID:28359939 NCBI chr15:41,989,239...42,018,520
Ensembl chr15:60,286,587...60,315,530
JBrowse link
Pulmonary Atresia with Ventricular Septal Defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXP1 forkhead box P1 ISO ClinVar Annotator: match by term: Pulmonary atresia with ventricular septal defect ClinVar PMID:25741868 NCBI chr 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173
JBrowse link
retinal arterial tortuosity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A1 collagen type IV alpha 1 chain ISO OMIM NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
JBrowse link
scimitar syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Total anomalous pulmonary venous return ClinVar PMID:19525294 PMID:19608031 PMID:23299917 PMID:23861362 PMID:24033266 More... NCBI chr10:87,652,254...87,661,173
Ensembl chr10:91,180,034...91,188,165
JBrowse link
G SMAD2 SMAD family member 2 ISO ClinVar Annotator: match by term: Anomalous pulmonary venous return ClinVar NCBI chr18:41,213,001...41,309,902
Ensembl chr18:44,580,905...44,668,530
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13941
    disease of anatomical entity 13608
      cardiovascular system disease 3420
        Cardiovascular Abnormalities 1083
          Vascular Malformations 82
            Arterio-Arterial Fistula + 0
            CLOVES syndrome 2
            Central Nervous System Vascular Malformations + 40
            Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature 0
            Hemophilia A with Vascular Abnormality 0
            May-Thurner Syndrome 0
            Microcephaly-Capillary Malformation Syndrome 1
            Patent Ductus Venosus 1
            Prepapillary Vascular Loops 0
            Primary Intraosseous Vascular Malformation 1
            Pulmonary Atresia + 2
            Single Umbilical Artery 0
            Splenoportal Vascular Anomalies 0
            Vascular Fistula + 15
            arterial tortuosity syndrome 4
            arteriovenous malformation + 49
            familial multiple nevi flammei 3
            hereditary hemorrhagic telangiectasia + 11
            retinal arterial tortuosity 1
            scimitar syndrome + 2
Path 2
Term Annotations click to browse term
  disease 13941
    Developmental Disease 10514
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9089
        Congenital Abnormalities 5639
          Cardiovascular Abnormalities 1083
            Vascular Malformations 82
              Arterio-Arterial Fistula + 0
              CLOVES syndrome 2
              Central Nervous System Vascular Malformations + 40
              Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature 0
              Hemophilia A with Vascular Abnormality 0
              May-Thurner Syndrome 0
              Microcephaly-Capillary Malformation Syndrome 1
              Patent Ductus Venosus 1
              Prepapillary Vascular Loops 0
              Primary Intraosseous Vascular Malformation 1
              Pulmonary Atresia + 2
              Single Umbilical Artery 0
              Splenoportal Vascular Anomalies 0
              Vascular Fistula + 15
              arterial tortuosity syndrome 4
              arteriovenous malformation + 49
              familial multiple nevi flammei 3
              hereditary hemorrhagic telangiectasia + 11
              retinal arterial tortuosity 1
              scimitar syndrome + 2
paths to the root