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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:cardiovascular organ benign neoplasm
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Accession:DOID:0060091 term browser browse the term
Definition:An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system. (DO)



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angiokeratoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLA galactosidase alpha EXP CTD Direct Evidence: therapeutic CTD PMID:19925601 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012
JBrowse link
G NAGA alpha-N-acetylgalactosaminidase IAGP Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W RGD PMID:8040340 RGD:1600558 NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842
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
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
Bannayan-Riley-Ruvalcaba syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EGFR epidermal growth factor receptor IAGP ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G KLLN killin, p53 regulated DNA replication inhibitor IAGP ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21194675 More... NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533
JBrowse link
G LOC130004273 ATAC-STARR-seq lymphoblastoid silent region 2585 IAGP ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome
ClinVar PMID:2338203 PMID:9467011 PMID:12844284 PMID:12938083 PMID:16773562 More... NCBI chr10:87,863,380...87,863,689 JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PTEN phosphatase and tensin homolog IAGP
ISS
ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1
OMIM:158350
ClinVar
OMIM
MouseDO
PMID:1097835 PMID:1336932 PMID:1945792 PMID:2333580 PMID:2338203 More... NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:19802898 PMID:20923864 PMID:21979946 PMID:23072324 PMID:23512077 More... NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151
JBrowse link
capillary hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT3 AKT serine/threonine kinase 3 IAGP ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079
JBrowse link
G CCN1 cellular communication network factor 1 disease_progression IEP mRNA:increased expression:skin (human) RGD PMID:33587560 RGD:329845523 NCBI chr 1:85,580,761...85,583,950
Ensembl chr 1:85,580,761...85,584,589
JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 IAGP ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868 NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506
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: 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 hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCM2 CCM2 scaffold protein IAGP ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:25741868 NCBI chr 7:44,999,746...45,076,470
Ensembl chr 7:44,999,475...45,076,469
JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing IAGP ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:10508515 PMID:10545614 PMID:11222804 PMID:12404106 PMID:23595507 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: Cavernous hemangioma 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
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
cerebellar angioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VHL von Hippel-Lindau tumor suppressor IAGP ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More... NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676
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: Cerebral cavernous malformation
ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | 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 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 PMID:25741868 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
choroid plexus papilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP53 tumor protein p53 IAGP
EXP
ClinVar Annotator: match by term: Choroid plexus papilloma
ClinVar Annotator: match by term: Papilloma of choroid plexus
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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
colon adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AXIN2 axin 2 IEP protein:increased expression:: RGD PMID:11809809 RGD:151356508 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
JBrowse link
G CACNA1D calcium voltage-gated channel subunit alpha1 D HEP protein:increased expression:colon (human) RGD PMID:29079724 RGD:152177516 NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733
JBrowse link
G CCND1 cyclin D1 severity IEP RGD PMID:11375949 RGD:151665121 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
JBrowse link
G CCND2 cyclin D2 severity IEP RGD PMID:11375949 RGD:151665121 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
JBrowse link
G CHKA choline kinase alpha IEP protein:increased expression:colonic mucosa (human) RGD PMID:10363580 RGD:10401945 NCBI chr11:68,052,859...68,121,388
Ensembl chr11:68,052,859...68,121,444
JBrowse link
G IGF2BP1 insulin like growth factor 2 mRNA binding protein 1 ISO RGD PMID:26194191 RGD:11086893 NCBI chr17:48,996,558...49,056,145
Ensembl chr17:48,997,385...49,056,145
JBrowse link
G RAC1 Rac family small GTPase 1 IEP RGD PMID:12865273 RGD:13432048 NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967
JBrowse link
G RBP4 retinol binding protein 4 IEP protein:increased expression:blood serum (human) RGD PMID:25712946 RGD:329849123 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IEP mRNA:decreased expression:colon (human) RGD PMID:29875879 RGD:150429665 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
JBrowse link
cystic lymphangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A2 collagen type XI alpha 2 chain IAGP ClinVar Annotator: match by term: Cystic hygroma ClinVar PMID:10677296 PMID:21204229 PMID:22246659 PMID:24033266 PMID:25741868 More... NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499
JBrowse link
Epithelioid Hemangioendothelioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFNA2 interferon alpha 2 EXP CTD Direct Evidence: therapeutic CTD PMID:15982392 NCBI chr 9:21,384,255...21,385,398
Ensembl chr 9:21,384,255...21,385,398
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 glomangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLMN glomulin, FKBP associated protein IAGP ClinVar Annotator: match by term: Familial glomangioma ClinVar PMID:11175297 PMID:11845407 PMID:15689436 PMID:23801931 PMID:24033266 More... NCBI chr 1:92,246,402...92,370,844
Ensembl chr 1:92,246,402...92,298,987
JBrowse link
glomangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLMN glomulin, FKBP associated protein IAGP
EXP
ClinVar Annotator: match by term: Glomuvenous malformation
ClinVar Annotator: match by term: Glomuvenous malformation | ClinVar Annotator: match by term: Glomuvenous malformations
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11175297 PMID:11845407 PMID:15689436 PMID:23375657 PMID:23801931 More... NCBI chr 1:92,246,402...92,370,844
Ensembl chr 1:92,246,402...92,298,987
JBrowse link
hemangioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCR4 C-X-C motif chemokine receptor 4 IEP mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177
JBrowse link
G DLL4 delta like canonical Notch ligand 4 IEP mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073
JBrowse link
G HEY1 hes related family bHLH transcription factor with YRPW motif 1 IEP mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 8:79,764,010...79,767,767
Ensembl chr 8:79,762,371...79,767,857
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
JBrowse link
G NDRG1 N-myc downstream regulated 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 8:133,237,175...133,297,252
Ensembl chr 8:133,237,175...133,302,022
JBrowse link
G NOTCH4 notch receptor 4 IEP mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 6:32,194,843...32,224,067
Ensembl chr 6:32,194,843...32,224,067
JBrowse link
hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXO1 forkhead box O1 ISO RGD PMID:17254969 RGD:155630604 NCBI chr13:40,555,667...40,666,641
Ensembl chr13:40,555,667...40,666,641
JBrowse link
G FOXO3 forkhead box O3 ISO RGD PMID:17254969 RGD:155630604 NCBI chr 6:108,559,825...108,684,774
Ensembl chr 6:108,559,835...108,684,774
JBrowse link
G FOXO4 forkhead box O4 ISO RGD PMID:17254969 RGD:155630604 NCBI chr  X:71,095,851...71,103,532
Ensembl chr  X:71,095,851...71,103,535
JBrowse link
G FOXP1 forkhead box P1 IAGP ClinVar Annotator: match by term: Glabellar hemangioma ClinVar PMID:25741868 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22057234 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22057234 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
JBrowse link
G MMP2 matrix metallopeptidase 2 IEP RGD PMID:19821096 RGD:8657063 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G NOTCH1 notch receptor 1 IAGP ClinVar Annotator: match by term: Hemangioma ClinVar PMID:25741868 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G PTEN phosphatase and tensin homolog EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemangioma
CTD
ClinVar
PMID:9286463 PMID:9467011 PMID:21194675 PMID:28492532 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G SLC2A1 solute carrier family 2 member 1 IEP RGD PMID:10665907 RGD:12879499 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
JBrowse link
G SRD5A3 steroid 5 alpha-reductase 3 IAGP ClinVar Annotator: match by term: Hemangioma ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:55,346,242...55,373,100
Ensembl chr 4:55,346,213...55,373,100
JBrowse link
G SRD5A3-AS1 SRD5A3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hemangioma ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:55,366,601...55,385,580
Ensembl chr 4:55,363,971...55,396,096
JBrowse link
G TSC2 TSC complex subunit 2 ISO RGD PMID:10096549 RGD:11568655 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
G YAP1 Yes1 associated transcriptional regulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:31351048 NCBI chr11:102,110,447...102,233,424
Ensembl chr11:102,110,447...102,233,424
JBrowse link
hemangioma of liver 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: Hepatic hemangioma ClinVar PMID:33912852 NCBI chr 1:34,792,999...34,795,747
Ensembl chr 1:34,792,999...34,795,747
JBrowse link
Infantile Capillary Hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR1 ANTXR cell adhesion molecule 1 susceptibility IAGP
EXP
ClinVar Annotator: match by term: Capillary infantile hemangioma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:18931684 PMID:25741868 PMID:28492532 NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327
JBrowse link
G CCNH cyclin H IAGP ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr 5:87,311,471...87,412,930
Ensembl chr 5:87,318,416...87,413,029
JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 IAGP
EXP
ClinVar Annotator: match by term: Capillary infantile hemangioma
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11807987 PMID:25741868 PMID:28492532 NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624
JBrowse link
G KDR kinase insert domain receptor susceptibility IAGP
EXP
ClinVar Annotator: match by term: Capillary infantile hemangioma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G MYH9 myosin heavy chain 9 IAGP ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:28492532 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010
JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
JBrowse link
G SLC2A1 solute carrier family 2 member 1 IEP RGD PMID:17554865 RGD:12879502 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
JBrowse link
G VEGFA vascular endothelial growth factor A disease_progression IEP RGD PMID:26957058 RGD:155663370 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
Kaposiform Hemangioendothelioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF2 fibroblast growth factor 2 IDA RGD PMID:14517397 RGD:8655667 NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236
JBrowse link
G GNA14 G protein subunit alpha 14 IAGP ClinVar Annotator: match by term: Kaposiform hemangioendothelioma ClinVar PMID:25741868 PMID:27476652 NCBI chr 9:77,423,079...77,648,322
Ensembl chr 9:77,423,079...77,648,322
JBrowse link
lymphangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Lymphangioma 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 FLT4 fms related receptor tyrosine kinase 4 IEP protein:increased expression:;lymphatic endothelial cell: RGD PMID:17584927 RGD:8552338 NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624
JBrowse link
G KDR kinase insert domain receptor IEP protein:increased expression:;lymphatic endothelial cell: RGD PMID:17584927 RGD:8552338 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Cavernous lymphangioma ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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: Microcephaly-capillary malformation syndrome | ClinVar Annotator: match by term: STAMBP-related condition
ClinVar PMID:18414213 PMID:21815250 PMID:23542699 PMID:25741868 PMID:28492532 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
Nuchal Bleb, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFTR CF transmembrane conductance regulator IAGP ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 More... NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 More... NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Nuchal bleb, familial ClinVar PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 More... NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345
JBrowse link
pulmonary venoocclusive disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR2 bone morphogenetic protein receptor type 2 IAGP ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis ClinVar PMID:18626305 PMID:24292273 NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751
JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 IAGP ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis
ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis
OMIM
ClinVar
PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 More... NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
JBrowse link
G LOC130056813 ATAC-STARR-seq lymphoblastoid silent region 6314 IAGP ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis
ClinVar Annotator: match by term: EIF2AK4-related condition
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:39,933,988...39,934,397 JBrowse link
sigmoid neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: Sigmoid colon cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
JBrowse link
G MSH2 mutS homolog 2 IAGP ClinVar Annotator: match by term: Sigmoid colon cancer ClinVar PMID:10495924 PMID:12658575 PMID:15849733 PMID:17312306 PMID:18566915 More... NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146
JBrowse link
G MSH6 mutS homolog 6 IAGP ClinVar Annotator: match by term: Sigmoid colon cancer ClinVar PMID:9354786 PMID:12376507 PMID:18809606 PMID:19924528 PMID:20176959 More... NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063
JBrowse link
skin hemangioma 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: Skin hemangioma ClinVar PMID:33912852 NCBI chr 1:34,792,999...34,795,747
Ensembl chr 1:34,792,999...34,795,747
JBrowse link
Sturge-Weber syndrome 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: Parkes Weber syndrome ClinVar PMID:24038909 PMID:25741868 PMID:27081547 PMID:28492532 PMID:28655553 More... NCBI chr 5:87,311,471...87,412,930
Ensembl chr 5:87,318,416...87,413,029
JBrowse link
G FN1 fibronectin 1 IEP mRNA, protein:increased expression:cerebral cortex RGD PMID:12621118 RGD:1358624 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
JBrowse link
G GNAQ G protein subunit alpha q IAGP
EXP
ClinVar Annotator: match by term: Sturge-Weber syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 More... NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811
JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP ClinVar Annotator: match by term: Parkes Weber syndrome ClinVar PMID:25741868 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656
JBrowse link
G MMP2 matrix metallopeptidase 2 severity IEP protein:increased expression:urine RGD PMID:23720035 RGD:13204823 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 severity IEP protein:increased expression:urine RGD PMID:23720035 RGD:13204823 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP ClinVar Annotator: match by term: Parkes Weber syndrome ClinVar PMID:22200646 PMID:23801933 PMID:24038909 PMID:25741868 PMID:27081547 More... NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
JBrowse link
Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MACF1 microtubule actin crosslinking factor 1 IAGP ClinVar Annotator: match by term: Facial hemangioma ClinVar PMID:31474318 NCBI chr 1:39,084,167...39,487,138
Ensembl chr 1:39,081,316...39,487,177
JBrowse link
Tufted Angioma 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: Tufted angioma ClinVar PMID:25741868 NCBI chr 9:77,423,079...77,648,322
Ensembl chr 9:77,423,079...77,648,322
JBrowse link
G KDR kinase insert domain receptor IAGP ClinVar Annotator: match by term: Tufted angioma ClinVar PMID:25741868 PMID:26422291 PMID:28492532 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
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, matrix associated, actin dependent regulator of chromatin, subfamily a, member 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
verrucous keratotic hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP3K3 mitogen-activated protein kinase kinase kinase 3 IAGP ClinVar Annotator: match by term: Verrucous venous malformation ClinVar PMID:25741868 NCBI chr17:63,622,417...63,696,305
Ensembl chr17:63,622,415...63,696,305
JBrowse link
von Hippel-Lindau disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex IAGP ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 3:10,115,675...10,127,190
Ensembl chr 3:10,115,675...10,127,190
JBrowse link
G CCND1 cyclin D1 susceptibility IAGP
EXP
ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
JBrowse link
G EPAS1 endothelial PAS domain protein 1 IEP protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697
JBrowse link
G IRAK2 interleukin 1 receptor associated kinase 2 IAGP ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 3:10,164,919...10,243,745
Ensembl chr 3:10,164,919...10,243,745
JBrowse link
G LOC107303339 3p25 BRK1 Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 3:10,120,032...10,138,833 JBrowse link
G LOC107303340 3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
ClinVar PMID:982991 PMID:1056348 PMID:2844285 PMID:4843792 PMID:7553625 More... NCBI chr 3:10,142,339...10,160,352 JBrowse link
G MMP3 matrix metallopeptidase 3 onset IAGP RGD PMID:19551141 RGD:7241233 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 More... NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151
JBrowse link
G SLC18A1 solute carrier family 18 member A1 IEP mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr 8:20,144,855...20,183,136
Ensembl chr 8:20,144,855...20,183,206
JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP
ISS
EXP
ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
OMIM:193300
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:4843792 More... NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676
JBrowse link
Worster-Drought Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 IAGP ClinVar Annotator: match by term: Worster-Drought syndrome ClinVar PMID:24375697 NCBI chr13:100,603,625...100,675,075
Ensembl chr13:100,603,625...100,675,093
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97409
    disease of anatomical entity 91033
      cardiovascular system disease 16210
        cardiovascular organ benign neoplasm 150
          Cardiac Rhabdomyoma 0
          benign pericardial teratoma 0
          benign perivascular tumor + 1
          benign vascular tumor + 20
          cardiac granular cell neoplasm 0
          cerebrovascular benign neoplasm + 1
          heart lipoma + 0
          hemangioma + 135
          pericardium leiomyoma 0
Path 2
Term Annotations click to browse term
  disease 97409
    disease of cellular proliferation 22949
      benign neoplasm 3531
        organ system benign neoplasm 2058
          cardiovascular organ benign neoplasm 150
            Cardiac Rhabdomyoma 0
            benign pericardial teratoma 0
            benign perivascular tumor + 1
            benign vascular tumor + 20
            cardiac granular cell neoplasm 0
            cerebrovascular benign neoplasm + 1
            heart lipoma + 0
            hemangioma + 135
            pericardium leiomyoma 0
paths to the root