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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
 narrow_synonym: GIVM;   gastrointestinal vascular malformation
 primary_id: MESH:D054079;   RDO:0004910
 xref: EFO:0006888


show annotations for term's descendants           Sort by:
Vascular Malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGT angiotensinogen IEP protein:increased expression:intestine:
protein:increased expression:serum:		 RGD PMID:24219762 PMID:21955427 RGD:155663361, RGD:155663363 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Vascular malformation ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CCNH cyclin H IAGP ClinVar Annotator: match by term: Vascular malformation ClinVar PMID:18363760 PMID:18446851 PMID:24038909 PMID:25040287 PMID:25741868 More... NCBI chr 5:87,311,471...87,412,930
Ensembl chr 5:87,318,416...87,413,029 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 IEP protein:increased expression:intestine:
protein:increased expression:serum:		 RGD PMID:24219762 PMID:21955427 RGD:155663361, RGD:155663363 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Vascular malformation ClinVar PMID:25741868 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP ClinVar Annotator: match by term: Vascular malformation ClinVar NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Vascular malformation ClinVar PMID:7773929 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 More... NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Vascular malformation ClinVar PMID:25741868 NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP ClinVar Annotator: match by term: Vascular malformation ClinVar PMID:25741868 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656 		JBrowse link
G NOTCH1 notch receptor 1 IEP protein:increased expression:intestine:
protein:increased expression:serum:		 RGD PMID:24219762 PMID:21955427 RGD:155663361, RGD:155663363 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
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 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP ClinVar Annotator: match by term: Vascular malformation ClinVar PMID:25157968 PMID:25741868 PMID:26619011 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP ClinVar Annotator: match by term: Vascular malformation ClinVar PMID:18363760 PMID:18446851 PMID:24038909 PMID:25040287 PMID:25741868 More... NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931 		JBrowse link
G TEK TEK receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Vascular malformation ClinVar PMID:25741868 NCBI chr 9:27,109,225...27,230,174
Ensembl chr 9:27,109,141...27,230,174 		JBrowse link
G YES1 YES proto-oncogene 1, Src family tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr18:721,588...812,753
Ensembl chr18:721,588...812,546 		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 IAGP ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chr 7:92,245,974...92,401,383
Ensembl chr 7:92,245,974...92,401,383 		JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing IAGP ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166 		JBrowse link
G LOC113748416 Sharpr-MPRA regulatory region 5961 IAGP ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chr 7:92,245,795...92,246,409 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 IAGP ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339 		JBrowse link
G ACTA2-AS1 ACTA2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr10:88,932,684...88,939,974
Ensembl chr10:88,932,390...88,940,820 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP DNA:missense mutation:CDS:p.D203A (human) RGD PMID:22943132 RGD:42722010 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592 		JBrowse link
G EMILIN1 elastin microfibril interfacer 1 IAGP ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:28492532 PMID:36351433 NCBI chr 2:27,078,615...27,086,403
Ensembl chr 2:27,078,615...27,086,403 		JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G MUS81 MUS81 structure-specific endonuclease subunit ISS OMIM:208050 MouseDO NCBI chr11:65,859,674...65,867,653
Ensembl chr11:65,857,126...65,867,653 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP
EXP		 ClinVar Annotator: match by term: Arterial tortuosity syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:12801113 PMID:14569121 PMID:16199547 PMID:16550171 More... NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347 		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 chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G ACKR1 atypical chemokine receptor 1 (Duffy blood group) ISO RGD PMID:24429330 RGD:9681736 NCBI chr 1:159,204,875...159,206,500
Ensembl chr 1:159,204,875...159,206,500 		JBrowse link
G ANGPT2 angiopoietin 2 ISO mRNA:increased expression:lung (rat) RGD PMID:18692629 RGD:2314184 NCBI chr 8:6,499,632...6,563,245
Ensembl chr 8:6,499,632...6,563,409 		JBrowse link
G ARRB1 arrestin beta 1 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr11:75,260,122...75,351,661
Ensembl chr11:75,260,122...75,351,705 		JBrowse link
G ARRB2 arrestin beta 2 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr17:4,710,632...4,721,497
Ensembl chr17:4,710,596...4,721,499 		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 chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G DES desmin ISO RGD PMID:10591032 RGD:13525010 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G FGF2 fibroblast growth factor 2 IEP RGD PMID:10541235 RGD:8655590 NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236 		JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO protein:increased expression:ileal vein RGD PMID:17398390 PMID:23924957 RGD:1642040, RGD:13204800 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:17398390 PMID:23924957 RGD:1642040, RGD:13204800 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:increased expression:vena cava RGD PMID:17344190 RGD:2292146 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G RBP4 retinol binding protein 4 exacerbates IEP protein:increased expression:blood serum (human) RGD PMID:33556944 RGD:329845868 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744 		JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO protein:decreased expression:ileal vein RGD PMID:17398390 RGD:1642040 NCBI chr 3:12,153,068...12,158,912
Ensembl chr 3:12,153,068...12,158,912 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO
IEP		 protein:increased expression:brain cortex, brain dura mater: RGD PMID:24626343 PMID:10541235 RGD:8551823, RGD:8655590 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		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 chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361 		JBrowse link
G ENG endoglin susceptibility IAGP
ISO		 associated with Telangiectasia, Hereditary Hemorrhagic; RGD PMID:8728706 PMID:24520391 RGD:11041184, RGD:11041564 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773 		JBrowse link
G EPHB4 EPH receptor B4 IAGP ClinVar Annotator: match by term: Arteriovenous malformation ClinVar PMID:25741868 PMID:28687708 PMID:30578106 PMID:30760892 NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523 		JBrowse link
G GLMN glomulin, FKBP associated protein IAGP glomuvenous malformations RGD PMID:11845407 RGD:1598992 NCBI chr 1:92,246,402...92,370,844
Ensembl chr 1:92,246,402...92,298,987 		JBrowse link
G LOC126860124 CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:100403701-100404900 IAGP ClinVar Annotator: match by term: Arteriovenous malformation ClinVar PMID:25741868 PMID:28687708 PMID:30578106 PMID:30760892 NCBI chr 7:100,805,443...100,807,278 JBrowse link
G MAP2 microtubule associated protein 2 ISO protein:decreased expression:hippocampus RGD PMID:20873448 RGD:6483324 NCBI chr 2:209,424,047...209,734,112
Ensembl chr 2:209,424,047...209,734,147 		JBrowse link
G MIR10A microRNA 10a IEP miRNA:decreased expression:blood plasma (human) RGD PMID:23051042 RGD:155582214 NCBI chr17:48,579,838...48,579,947
Ensembl chr17:48,579,838...48,579,947 		JBrowse link
G MIR193A microRNA 193a IEP miRNA:decreased expression:blood plasma (human) RGD PMID:23051042 RGD:155582214 NCBI chr17:31,559,996...31,560,083
Ensembl chr17:31,559,996...31,560,083 		JBrowse link
G MIR210 microRNA 210 IEP associated with hereditary hemorrhagic telangiectasia; miRNA:increased expression:blood plasma (human) RGD PMID:23051042 RGD:155582214 NCBI chr11:568,089...568,198
Ensembl chr11:568,089...568,198 		JBrowse link
G MIR214 microRNA 214 IEP miRNA:increased expression:blood plasma (human) RGD PMID:23051042 RGD:155582214 NCBI chr 1:172,138,798...172,138,907
Ensembl chr 1:172,138,798...172,138,907 		JBrowse link
G MIR34A microRNA 34a IEP miRNA:increased expression:blood plasma (human) RGD PMID:23051042 RGD:155582214 NCBI chr 1:9,151,668...9,151,777
Ensembl chr 1:9,151,668...9,151,777 		JBrowse link
G MIR486-1 microRNA 486-1 IEP miRNA:increased expression:blood plasma (human) RGD PMID:23051042 RGD:155582214 NCBI chr 8:41,660,441...41,660,508
Ensembl chr 8:41,660,441...41,660,508 		JBrowse link
G MMP9 matrix metallopeptidase 9 IEP RGD PMID:16720380 RGD:1582655 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Arteriovenous malformation ClinVar NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:14639529 PMID:15917201 RGD:1581296 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931 		JBrowse link
G TEK TEK receptor tyrosine kinase susceptibility IAGP DNA:missense mutation: :p.R849W RGD PMID:8980225 RGD:1578533 NCBI chr 9:27,109,225...27,230,174
Ensembl chr 9:27,109,141...27,230,174 		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 like type 1 ISS OMIM:108010 MouseDO NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361 		JBrowse link
G ADGRV1 adhesion G protein-coupled receptor V1 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP 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 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:28492532 NCBI chr16:1,153,106...1,221,768
Ensembl chr16:1,153,103...1,224,169 		JBrowse link
G CDH2 cadherin 2 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr18:27,932,879...28,177,130
Ensembl chr18:27,932,879...28,177,946 		JBrowse link
G EGFR epidermal growth factor receptor IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628 		JBrowse link
G ENG endoglin disease_progression IAGP
ISS
ISO		 ClinVar Annotator: match by term: Cerebral arteriovenous malformation
OMIM:108010
DNA:polymorphism: : 207G>A(human)		 ClinVar
MouseDO
RGD		 PMID:15879500 PMID:25741868 PMID:28492532 PMID:30120215 PMID:16179574 More... RGD:1580962, RGD:11041564, RGD:11041171 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IEP protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:25741868 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G IL17RD interleukin 17 receptor D IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25636053 PMID:25741868 PMID:28492532 PMID:32389901 NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306 		JBrowse link
G IL6 interleukin 6 susceptibility EXP
IAGP		 CTD Direct Evidence: marker/mechanism CTD
OMIM		 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G KDR kinase insert domain receptor IEP protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP
ISS
EXP		 ClinVar Annotator: match by term: Arteriovenous malformations of the brain
OMIM:108010
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 More... 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 ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355 		JBrowse link
G MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 2:101,697,707...101,894,690
Ensembl chr 2:101,696,850...101,894,690 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108 		JBrowse link
G NOTCH4 notch receptor 4 ISO
ISS
IAGP		 OMIM:108010
ClinVar Annotator: match by term: Cerebral arteriovenous malformation		 MouseDO
ClinVar
RGD		 PMID:25741868 PMID:27231971 PMID:19546852 RGD:6480671 NCBI chr 6:32,194,843...32,224,067
Ensembl chr 6:32,194,843...32,224,067 		JBrowse link
G NRIP3-DT NRIP3 divergent transcript IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr11:9,004,088...9,067,791
Ensembl chr11:9,004,093...9,067,776 		JBrowse link
G PDCD10 programmed cell death 10 IAGP ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:9536098 PMID:16329096 PMID:17576681 PMID:24466005 PMID:25122144 More... NCBI chr 3:167,683,298...167,734,892
Ensembl chr 3:167,683,298...167,734,939 		JBrowse link
G PITPNM3 PITPNM family member 3 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr17:6,451,263...6,556,555
Ensembl chr17:6,451,263...6,556,555 		JBrowse link
G PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 8:67,952,046...68,237,032
Ensembl chr 8:67,952,046...68,237,032 		JBrowse link
G SARS1 seryl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 1:109,213,893...109,238,182
Ensembl chr 1:109,213,918...109,238,182 		JBrowse link
G SCUBE2 signal peptide, CUB domain and EGF like domain containing 2 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr11:9,019,476...9,091,599
Ensembl chr11:9,019,476...9,138,114 		JBrowse link
G SYN3 synapsin III IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr22:32,507,820...33,058,381
Ensembl chr22:32,507,820...33,058,381 		JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041 		JBrowse link
G VEGFA vascular endothelial growth factor A IEP RGD PMID:16388189 RGD:1580567 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
G ZFYVE16 zinc finger FYVE-type containing 16 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 5:80,407,610...80,483,379
Ensembl chr 5:80,408,013...80,483,379 		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 IAGP ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome
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 chr 5:87,311,471...87,412,930
Ensembl chr 5:87,318,416...87,413,029 		JBrowse link
G EPHB4 EPH receptor B4 IAGP ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome ClinVar PMID:25741868 NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523 		JBrowse link
G LOC126860124 CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:100403701-100404900 IAGP ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome ClinVar PMID:25741868 NCBI chr 7:100,805,443...100,807,278 JBrowse link
G LOC644285 uncharacterized LOC644285 IAGP ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome ClinVar PMID:28492532 NCBI chr 5:87,318,415...87,323,628 JBrowse link
G RASA1 RAS p21 protein activator 1 susceptibility IAGP
EXP		 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 chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931 		JBrowse link
G STAMBP STAM binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chr 2:73,828,961...73,873,656
Ensembl chr 2:73,828,916...73,873,659 		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 IAGP ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1
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 chr 5:87,311,471...87,412,930
Ensembl chr 5:87,318,416...87,413,029 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 More... NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LOC644285 uncharacterized LOC644285 IAGP ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar PMID:28492532 NCBI chr 5:87,318,415...87,323,628 JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1
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 chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931 		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 IAGP ClinVar Annotator: match by term: EPHB4-related disorders
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 | ClinVar Annotator: match by term: EPHB4-related disorders
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 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523 		JBrowse link
G LOC126860124 CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:100403701-100404900 IAGP ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 | ClinVar Annotator: match by term: EPHB4-related disorders		 ClinVar PMID:16199547 PMID:21348050 PMID:25741868 PMID:27400125 PMID:28492532 More... NCBI chr 7:100,805,443...100,807,278 JBrowse link
G SLC12A9 solute carrier family 12 member 9 IAGP ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 ClinVar PMID:25741868 PMID:28492532 PMID:28687708 NCBI chr 7:100,826,869...100,867,012
Ensembl chr 7:100,826,820...100,867,010 		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 IAGP ClinVar Annotator: match by term: Cavernous malformations of CNS and retina ClinVar PMID:11831930 NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166 		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 IAGP DNA:deletions: ; Cerebral cavernous malformations, OMIM:603284 RGD PMID:17160895 RGD:1600689 NCBI chr 7:44,999,746...45,076,470
Ensembl chr 7:44,999,475...45,076,469 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP DNA:snp:cds:p.G562E (human) RGD PMID:16598045 RGD:1581204 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		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 IAGP ClinVar Annotator: match by term: Cerebral venous angioma ClinVar PMID:23650393 PMID:25741868 PMID:31680349 NCBI chr 5:87,311,471...87,412,930
Ensembl chr 5:87,318,416...87,413,029 		JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP ClinVar Annotator: match by term: Cerebral venous angioma ClinVar PMID:23650393 PMID:25741868 PMID:31680349 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931 		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 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 More... NCBI chr 7:91,940,862...92,110,673
Ensembl chr 7:91,940,840...92,110,673 		JBrowse link
G ANKIB1 ankyrin repeat and IBR domain containing 1 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chr 7:92,245,974...92,401,383
Ensembl chr 7:92,245,974...92,401,383 		JBrowse link
G CCM2 CCM2 scaffold protein EXP
IAGP		 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 7:44,999,746...45,076,470
Ensembl chr 7:44,999,475...45,076,469 		JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 More... NCBI chr 7:92,112,153...92,134,803
Ensembl chr 7:92,084,987...92,134,803 		JBrowse link
G CYP51A1-AS1 CYP51A1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 More... NCBI chr 7:92,134,563...92,180,725
Ensembl chr 7:92,134,563...92,180,725 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IEP protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145 		JBrowse link
G KDR kinase insert domain receptor IEP protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595 		JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing susceptibility IAGP
ISS
EXP		 ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation | ClinVar Annotator: match by term: Cerebral cavernous malformations
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:3393196 PMID:7898703 PMID:9065560 PMID:9536098 PMID:10508515 More... RGD:1598379, RGD:1358458 NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166 		JBrowse link
G LOC113748416 Sharpr-MPRA regulatory region 5961 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chr 7:92,245,795...92,246,409 JBrowse link
G LOC129937857 ATAC-STARR-seq lymphoblastoid active region 20771 IAGP ClinVar Annotator: match by term: Cavernous Hemangioma of Brain ClinVar NCBI chr 3:167,734,704...167,735,143 JBrowse link
G LRRD1 leucine rich repeats and death domain containing 1 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 More... NCBI chr 7:92,141,643...92,179,142
Ensembl chr 7:92,141,643...92,179,531 		JBrowse link
G MTERF1 mitochondrial transcription termination factor 1 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 More... NCBI chr 7:91,870,929...91,880,702
Ensembl chr 7:91,692,008...91,880,702 		JBrowse link
G NOTCH3 notch receptor 3 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 PMID:28492532 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G PDCD10 programmed cell death 10 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation		 ClinVar PMID:15543491 PMID:18035376 PMID:18300272 PMID:23485406 PMID:23595507 More... NCBI chr 3:167,683,298...167,734,892
Ensembl chr 3:167,683,298...167,734,939 		JBrowse link
G PON1 paraoxonase 1 susceptibility IAGP DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26122242 RGD:11552573 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		JBrowse link
G PTEN phosphatase and tensin homolog IEP protein:decreased expression:brain (human) RGD PMID:19061355 RGD:12859036 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G SERPINI1 serpin family I member 1 IAGP ClinVar Annotator: match by term: Cavernous Hemangioma of Brain
ClinVar Annotator: match by term: Cerebral cavernous malformation		 ClinVar PMID:25741868 NCBI chr 3:167,735,721...167,825,569
Ensembl chr 3:167,735,243...167,825,569 		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 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation 1
ClinVar Annotator: match by term: KRIT1-Related Disorders
ClinVar Annotator: match by term: Cerebral cavernous malformation 1 | ClinVar Annotator: match by term: KRIT1-Related Disorders		 ClinVar
OMIM		 PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 More... NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166 		JBrowse link
G PDCD10 programmed cell death 10 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation 1 ClinVar PMID:25741868 NCBI chr 3:167,683,298...167,734,892
Ensembl chr 3:167,683,298...167,734,939 		JBrowse link
G PTGIS prostaglandin I2 synthase exacerbates IAGP DNA:silent mutation:CDS:p.L256L (rs5628) (human) RGD PMID:26795600 RGD:401960081 NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Cerebral cavernous malformation 2
OMIM:603284
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 More... NCBI chr 7:44,999,746...45,076,470
Ensembl chr 7:44,999,475...45,076,469 		JBrowse link
G LOC129998395 ATAC-STARR-seq lymphoblastoid silent region 18162 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation 2 ClinVar PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 More... NCBI chr 7:45,000,148...45,000,677 JBrowse link
G LOC129998398 ATAC-STARR-seq lymphoblastoid active region 25968 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation 2 ClinVar PMID:17160895 PMID:28492532 NCBI chr 7:45,028,209...45,028,278 JBrowse link
G LOC132090779 Neanderthal introgressed variant-containing enhancer experimental_99227 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation 2 ClinVar PMID:17160895 PMID:25741868 PMID:28492532 NCBI chr 7:45,074,405...45,074,574 JBrowse link
G NACAD NAC alpha domain containing IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation 2 ClinVar PMID:17160895 PMID:28492532 NCBI chr 7:45,080,437...45,088,969
Ensembl chr 7:45,080,437...45,088,969 		JBrowse link
cerebral cavernous malformation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129937855 ATAC-STARR-seq lymphoblastoid silent region 14866 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation 3 ClinVar PMID:28492532 NCBI chr 3:167,691,537...167,691,676 JBrowse link
G LOC129937857 ATAC-STARR-seq lymphoblastoid active region 20771 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation 3 ClinVar NCBI chr 3:167,734,704...167,735,143 JBrowse link
G PDCD10 programmed cell death 10 onset
exacerbates		 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Cerebral cavernous malformation 3 | ClinVar Annotator: match by term: Cerebral cavernous malformations 3
DNA:deletion:CDS:c.506delA (human)
DNA:mutations:multiple (human)
DNA:SNPs:promoter: (rs9853967, rs11714980) (human)
DNA:nonsense mutation, frameshift mutations:CDS:multiple (human)
DNA:mutations:SNPs, duplications, deletions:multiple (human)
DNA:deletions, nonsense mutations:multiple (human)
OMIM:603285
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:16380626 More... RGD:401827173, RGD:401827115, RGD:401827114, RGD:401827108, RGD:401827103, RGD:401827102, RGD:329961304 NCBI chr 3:167,683,298...167,734,892
Ensembl chr 3:167,683,298...167,734,939 		JBrowse link
G SERPINI1 serpin family I member 1 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation 3 ClinVar PMID:15543491 PMID:18300272 PMID:23801932 PMID:25741868 PMID:28492532 NCBI chr 3:167,735,721...167,825,569
Ensembl chr 3:167,735,243...167,825,569 		JBrowse link
Cerebral Cavernous Malformation 4 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 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation 4 OMIM
ClinVar		 PMID:25741868 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
CEREBROFACIAL ARTERIOVENOUS METAMERIC SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNA14 G protein subunit alpha 14 IAGP ClinVar Annotator: match by term: Cerebrofacial arteriovenous metameric syndrome ClinVar NCBI chr 9:77,423,079...77,648,322
Ensembl chr 9:77,423,079...77,648,322 		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 IAGP 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
ClinVar Annotator: match by term: CLAPO syndrome		 OMIM
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
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 IAGP ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi ClinVar PMID:25741868 PMID:27476652 NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP
ISS
EXP		 DNA: missense mutations: exon :p.H1047R, p.H1047L
ClinVar Annotator: match by term: CLOVE SYNDROME
ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
ClinVar Annotator: match by term: CLOVES syndrome | ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
OMIM:612918
ClinVar Annotator: match by term: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... RGD:13207409 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP ClinVar Annotator: match by term: CLOVES syndrome ClinVar PMID:25741868 PMID:34040190 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		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 IAGP DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:20488708 RGD:11039024 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G CAND2 cullin associated and neddylation dissociated 2 (putative) ISO RGD PMID:31426861 RGD:18899564 NCBI chr 3:12,796,680...12,834,803
Ensembl chr 3:12,796,472...12,834,804 		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 IAGP ClinVar Annotator: match by term: Capillary malformations, congenital ClinVar PMID:25741868 PMID:27476652 NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999 		JBrowse link
G GNAQ G protein subunit alpha q IAGP ClinVar Annotator: match by term: Port-wine stain familial multiple
ClinVar Annotator: match by term: Familial multiple nevi flammei		 ClinVar
OMIM		 PMID:23656586 PMID:25188413 PMID:25741868 NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Capillary malformations, congenital ClinVar PMID:15930273 PMID:17376864 PMID:18074223 PMID:22120714 PMID:22658544 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia
ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome
OMIM:187300 | OMIM:600376 | OMIM:601101 | OMIM:615506
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:9245985 PMID:9536098 PMID:10767348 PMID:10946360 PMID:12114496 More... RGD:1300352 NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361 		JBrowse link
G AK1 adenylate kinase 1 IAGP ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 9:127,866,480...127,879,621
Ensembl chr 9:127,866,486...127,877,675 		JBrowse link
G AL162586.1 novel transcript IAGP ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia
ClinVar Annotator: match by term: Osler-Rendu-Weber disease		 ClinVar PMID:7894484 PMID:8595426 PMID:9536098 PMID:9554745 PMID:10625079 More... NCBI chr 9:127,816,066...127,822,520
Ensembl chr 9:127,816,066...127,822,520 		JBrowse link
G CCNH cyclin H IAGP ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome ClinVar PMID:18446851 PMID:24038909 PMID:25741868 PMID:28295764 PMID:28492532 More... NCBI chr 5:87,311,471...87,412,930
Ensembl chr 5:87,318,416...87,413,029 		JBrowse link
G CIAO3 cytosolic iron-sulfur assembly component 3 IAGP ClinVar Annotator: match by term: Pulmonary arteriovenous malformation ClinVar NCBI chr16:729,765...740,997
Ensembl chr16:729,760...741,329 		JBrowse link
G DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory IAGP ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 9:127,935,099...127,937,854
Ensembl chr 9:127,935,099...127,937,854 		JBrowse link
G ENG endoglin no_association IAGP
ISS
EXP
ISO
IDA		 HHT1,OMIM:187300;DNA:point mutation:Y277X, DNA:deletion:exon
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia
ClinVar Annotator: match by term: Osler-Rendu-Weber disease
OMIM:187300 | OMIM:600376 | OMIM:601101 | OMIM:615506
CTD Direct Evidence: marker/mechanism
DNA:mutations:
DNA:mutations:multiple:		 ClinVar
MouseDO
CTD
RGD		 PMID:7894484 PMID:8162075 PMID:8595426 PMID:9157574 PMID:9245986 More... RGD:1601038, RGD:11035216, RGD:11041566, RGD:11041563, RGD:11041183, RGD:11041169, RGD:1300352, RGD:1580960 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773 		JBrowse link
G GDF2 growth differentiation factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26801773 NCBI chr10:47,322,454...47,327,588
Ensembl chr10:47,322,454...47,327,588 		JBrowse link
G PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 IAGP ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 9:127,920,881...127,930,777
Ensembl chr 9:127,920,881...127,930,785 		JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome ClinVar PMID:18446851 PMID:24038909 PMID:25741868 PMID:28295764 PMID:28492532 More... NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931 		JBrowse link
G SMAD4 SMAD family member 4 IAGP DNA:missense,frameshift, nonsense mutations:exons:
ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:16613914 RGD:11035218 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 IAGP ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 9:127,907,886...127,917,041
Ensembl chr 9:127,907,886...127,917,041 		JBrowse link
G ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 IAGP ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 9:127,885,321...127,906,616
Ensembl chr 9:127,885,321...127,905,408 		JBrowse link
G TNF tumor necrosis factor IEP protein:decreased expression:blood, lymphocyte RGD PMID:16611101 RGD:10450733 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		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 IAGP ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 ClinVar PMID:9536098 PMID:15024723 PMID:15065824 PMID:15517393 PMID:15712271 More... NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361 		JBrowse link
G AL162586.1 novel transcript IAGP ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1
ClinVar Annotator: match by term: ENG-related condition
ClinVar Annotator: match by term: ENG-related condition | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1
ClinVar Annotator: match by term: Haemorrhagic telangiectasia 1		 ClinVar PMID:7894484 PMID:9536098 PMID:9554745 PMID:10625079 PMID:10982033 More... NCBI chr 9:127,816,066...127,822,520
Ensembl chr 9:127,816,066...127,822,520 		JBrowse link
G ENG endoglin IDA
IAGP		 ClinVar Annotator: match by term: ENG-related condition | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1
ClinVar Annotator: match by term: Haemorrhagic telangiectasia 1		 ClinVar
OMIM
RGD		 PMID:2601709 PMID:7894484 PMID:8162075 PMID:8595426 PMID:9245986 More... RGD:11041166 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773 		JBrowse link
G PSEN1 presenilin 1 IAGP ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 ClinVar PMID:25741868 PMID:29142009 PMID:30822634 PMID:32235595 NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691 		JBrowse link
G SMAD4 SMAD family member 4 IAGP ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 ClinVar PMID:25741868 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G TGFB1 transforming growth factor beta 1 IEP protein:decreased expression:plasma: RGD PMID:15907823 RGD:11041166 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		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 IAGP
EXP
ISO		 DNA:nonsense mutation:cds:145del(human)
ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 2
ClinVar Annotator: match by term: Lip telangiectasia | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 2
CTD Direct Evidence: marker/mechanism
DNA:deletion, insertion and missense mutations:exons:
DNA:mutations:		 ClinVar
CTD
OMIM
RGD		 PMID:6470589 PMID:8640225 PMID:9245985 PMID:9536098 PMID:10187774 More... RGD:10769364, RGD:11035213, RGD:11035214, RGD:11035216 NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361 		JBrowse link
G AL162586.1 novel transcript IAGP ClinVar Annotator: match by term: Oral cavity telangiectasia ClinVar PMID:25741868 NCBI chr 9:127,816,066...127,822,520
Ensembl chr 9:127,816,066...127,822,520 		JBrowse link
G ENG endoglin IAGP ClinVar Annotator: match by term: Oral cavity telangiectasia ClinVar PMID:25741868 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773 		JBrowse link
G LOC130007932 ATAC-STARR-seq lymphoblastoid active region 6385 IAGP ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 2 ClinVar PMID:28492532 NCBI chr12:51,923,016...51,923,065 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 IAGP ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 5 ClinVar
OMIM		 PMID:23972370 PMID:25741868 PMID:26801773 PMID:27081547 PMID:28492532 More... NCBI chr10:47,322,454...47,327,588
Ensembl chr10:47,322,454...47,327,588 		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 IAGP ClinVar Annotator: match by term: Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations ClinVar PMID:10814716 NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166 		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 IAGP
EXP		 DNA:frameshift mutations, missense mutations, nonsense mutation: :multiple
ClinVar Annotator: match by term: JP/HHT SYNDROME | ClinVar Annotator: match by term: JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA | ClinVar Annotator: match by term: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI
CTD Direct Evidence: marker/mechanism
DNA:mutations:exon:multiple		 ClinVar
CTD
OMIM
RGD		 PMID:6604412 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9536098 More... RGD:11070199, RGD:11062720 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
Microcephaly-Capillary Malformation Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126806253 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:74057585-74058784 IAGP ClinVar Annotator: match by term: Microcephaly-capillary malformation syndrome
ClinVar Annotator: match by term: STAMBP-related condition
ClinVar Annotator: match by term: Microcephaly-capillary malformation syndrome | ClinVar Annotator: match by term: STAMBP-related condition		 ClinVar PMID:18414213 PMID:21815250 PMID:23542699 PMID:25741868 PMID:28492532 More... NCBI chr 2:73,830,458...73,831,657 JBrowse link
G STAMBP STAM binding protein IAGP ClinVar Annotator: match by term: Microcephaly-capillary malformation syndrome
ClinVar Annotator: match by term: Microcephaly-capillary malformation syndrome | ClinVar Annotator: match by term: STAMBP-related condition		 ClinVar
OMIM		 PMID:18414213 PMID:21271646 PMID:21815250 PMID:23542699 PMID:25326635 More... NCBI chr 2:73,828,961...73,873,656
Ensembl chr 2:73,828,916...73,873,659 		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 IAGP ClinVar Annotator: match by term: Cutaneous venous malformation ClinVar PMID:33912852 NCBI chr 1:34,792,999...34,795,747
Ensembl chr 1:34,792,999...34,795,747 		JBrowse link
G TEK TEK receptor tyrosine kinase IAGP
EXP		 ClinVar Annotator: match by term: Multiple cutaneous and mucosal venous malformations
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 9:27,109,225...27,230,174
Ensembl chr 9:27,109,141...27,230,174 		JBrowse link
Patent Ductus Venosus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHR aryl hydrocarbon receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:36029422 NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152 		JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO RGD PMID:24924401 RGD:14700900 NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220 		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 IAGP
EXP		 ClinVar Annotator: match by term: Vascular malformation, primary intraosseous
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:11932989 PMID:25741868 PMID:27476657 PMID:28492532 NCBI chr20:46,366,050...46,406,615
Ensembl chr20:46,366,050...46,432,985 		JBrowse link
Pulmonary Atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP5 Rho GTPase activating protein 5 IAGP ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr14:32,077,304...32,159,728
Ensembl chr14:32,076,114...32,159,728 		JBrowse link
G BCLAF1 BCL2 associated transcription factor 1 IAGP ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr 6:136,256,627...136,289,846
Ensembl chr 6:136,256,627...136,289,851 		JBrowse link
G CDC27 cell division cycle 27 IAGP ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr17:47,117,703...47,189,295
Ensembl chr17:47,117,703...47,189,422 		JBrowse link
G CNN2 calponin 2 IAGP ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr19:1,026,608...1,039,065
Ensembl chr19:1,026,586...1,039,068 		JBrowse link
G CTBP2 C-terminal binding protein 2 IAGP ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar PMID:25741868 NCBI chr10:124,984,317...125,162,463
Ensembl chr10:124,984,317...125,161,170 		JBrowse link
G FRG1 FSHD region gene 1 IAGP ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr 4:189,940,872...189,963,192
Ensembl chr 4:189,940,855...189,963,202 		JBrowse link
G GATA4 GATA binding protein 4 IAGP ClinVar Annotator: match by term: Pulmonary valve atresia ClinVar PMID:18055909 PMID:20981092 PMID:25741868 PMID:27535533 PMID:28492532 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G NODAL nodal growth differentiation factor susceptibility IAGP DNA:mutations RGD PMID:19064609 RGD:11568370 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951 		JBrowse link
G NUP153 nucleoporin 153 IAGP ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr 6:17,615,037...17,706,925
Ensembl chr 6:17,615,035...17,706,925 		JBrowse link
G PABPC1 poly(A) binding protein cytoplasmic 1 IAGP ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr 8:100,702,916...100,722,088
Ensembl chr 8:100,685,816...100,722,809 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar PMID:25741868 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		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 IAGP ClinVar Annotator: match by term: Pulmonary atresia with intact ventricular septum ClinVar PMID:28359939 NCBI chr15:63,042,747...63,071,915
Ensembl chr15:63,042,620...63,071,915 		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 IAGP ClinVar Annotator: match by term: Pulmonary atresia with ventricular septal defect ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978 		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 IAGP ClinVar Annotator: match by term: Retinal arterial tortuosity
ClinVar Annotator: match by term: Retinal arteries, tortuosity of
ClinVar Annotator: match by term: Retinal arterial tortuosity | ClinVar Annotator: match by term: Retinal arteries, tortuosity of		 ClinVar
OMIM		 PMID:3691802 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 More... NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP ClinVar Annotator: match by term: Retinal arterial tortuosity ClinVar PMID:25741868 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G LOC126861856 BRD4-independent group 4 enhancer GRCh37_chr13:110846747-110847946 IAGP ClinVar Annotator: match by term: Retinal arteries, tortuosity of ClinVar PMID:25741868 PMID:28492532 NCBI chr13:110,194,400...110,195,599 JBrowse link
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACBD5 acyl-CoA binding domain containing 5 IAGP ClinVar Annotator: match by term: Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities ClinVar PMID:25741868 NCBI chr10:27,182,838...27,242,111
Ensembl chr10:27,168,135...27,243,046 		JBrowse link
G MASTL microtubule associated serine/threonine kinase like IAGP ClinVar Annotator: match by term: Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities ClinVar PMID:25741868 NCBI chr10:27,154,479...27,187,953
Ensembl chr10:27,154,824...27,187,953 		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 IAGP ClinVar Annotator: match by term: Total anomalous pulmonary venous return
ClinVar Annotator: match by term: TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1 | ClinVar Annotator: match by term: Total anomalous pulmonary venous return		 ClinVar PMID:19525294 PMID:19608031 PMID:23299917 PMID:23861362 PMID:24033266 More... NCBI chr10:90,912,096...90,921,087
Ensembl chr10:90,912,096...90,921,087 		JBrowse link
G BMP7 bone morphogenetic protein 7 IAGP ClinVar Annotator: match by term: Total anomalous pulmonary venous return ClinVar PMID:25741868 PMID:28492532 NCBI chr20:57,168,753...57,266,641
Ensembl chr20:57,168,753...57,266,641 		JBrowse link
G IFT88 intraflagellar transport 88 ISS OMIM:106700 MouseDO NCBI chr13:20,567,157...20,691,444
Ensembl chr13:20,567,138...20,691,444 		JBrowse link
G MYRF myelin regulatory factor IAGP ClinVar Annotator: match by term: Scimitar syndrome ClinVar PMID:25741868 NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISS OMIM:106700 MouseDO NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245 		JBrowse link
G SMAD2 SMAD family member 2 IAGP ClinVar Annotator: match by term: Anomalous pulmonary venous return ClinVar NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		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 IAGP ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:23991001 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30578106 NCBI chr21:36,460,621...36,576,569
Ensembl chr21:36,460,621...36,576,569 		JBrowse link
G CLDN14-AS1 CLDN14 antisense RNA 1 IAGP ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:23991001 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30578106 NCBI chr21:36,430,325...36,498,526 JBrowse link
G EPHB4 EPH receptor B4 IAGP ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523 		JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994 		JBrowse link
G KEL Kell metallo-endopeptidase (Kell blood group) IAGP ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 7:142,941,114...142,962,363
Ensembl chr 7:142,941,114...142,962,363 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:28492532 PMID:30578106 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G SMARCA2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 IAGP ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97387
    disease of anatomical entity 91016
      cardiovascular system disease 16231
        Cardiovascular Abnormalities 2241
          Vascular Malformations 146
            Arterio-Arterial Fistula + 0
            CLOVES syndrome 3
            Central Nervous System Vascular Malformations + 61
            Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature 0
            Hemophilia A with Vascular Abnormality 0
            May-Thurner Syndrome 0
            Meningioangiomatosis 0
            Microcephaly-Capillary Malformation Syndrome 2
            Patent Ductus Venosus 2
            Prepapillary Vascular Loops 0
            Primary Intraosseous Vascular Malformation 1
            Pulmonary Atresia + 14
            Single Umbilical Artery 0
            Splenoportal Vascular Anomalies 0
            Vascular Fistula + 17
            arterial tortuosity syndrome 7
            arteriovenous malformation + 69
            familial multiple nevi flammei 3
            hereditary hemorrhagic telangiectasia + 17
            retinal arterial tortuosity 3
            scimitar syndrome + 8
Path 2
Term Annotations click to browse term
  disease 97387
    Developmental Disease 35248
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 28731
        Congenital Abnormalities 15093
          Cardiovascular Abnormalities 2241
            Vascular Malformations 146
              Arterio-Arterial Fistula + 0
              CLOVES syndrome 3
              Central Nervous System Vascular Malformations + 61
              Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature 0
              Hemophilia A with Vascular Abnormality 0
              May-Thurner Syndrome 0
              Meningioangiomatosis 0
              Microcephaly-Capillary Malformation Syndrome 2
              Patent Ductus Venosus 2
              Prepapillary Vascular Loops 0
              Primary Intraosseous Vascular Malformation 1
              Pulmonary Atresia + 14
              Single Umbilical Artery 0
              Splenoportal Vascular Anomalies 0
              Vascular Fistula + 17
              arterial tortuosity syndrome 7
              arteriovenous malformation + 69
              familial multiple nevi flammei 3
              hereditary hemorrhagic telangiectasia + 17
              retinal arterial tortuosity 3
              scimitar syndrome + 8
paths to the root