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cerebral cavernous malformation - Ontology Report - Rat Genome Database

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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:cerebral cavernous malformation
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Accession:DOID:0060669 term browser browse the term
Definition:A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support. (DO)
Synonyms:exact_synonym: CAM;   CCM;   Cavernous Angioma, Central Nervous System;   Cavernous Angiomatous Malformation;   Cavernous Hemangioma of Brain;   Cerebral Capillary Malformation;   Cerebral Cavernous Hemangioma;   brain cavernous hemangioma;   brain cavernous hemangiomas;   cavernous angiomatous malformations;   cavernous hemangioma, central nervous system;   cerebral capillary malformations;   cerebral cavernous hemangiomas;   cerebral cavernous malformations;   extracerebral cavernous hemangioma;   extracerebral cavernous hemangiomas;   familial cavernous angioma;   familial cavernous angiomas;   familial cavernous malformation;   familial cavernous malformations;   intracerebral cavernous hemangioma;   intracerebral cavernous hemangiomas
 narrow_synonym: CAVERNOUS MALFORMATIONS OF CNS AND RETINA;   HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS
 primary_id: MESH:D020786
 xref: EFO:1001343;   MIM:PS116860;   NCI:C84626

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cerebral cavernous malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 More... NCBI chrNW_004624809:1,101,941...1,258,402
Ensembl chrNW_004624809:1,103,538...1,257,809 		JBrowse link
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chrNW_004624809:787,932...978,315
Ensembl chrNW_004624809:790,496...927,430 		JBrowse link
G Ccm2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25525273 PMID:25741868 PMID:28492532 NCBI chrNW_004624740:7,308,178...7,348,681
Ensembl chrNW_004624740:7,308,177...7,348,689 		JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chrNW_004624776:10,043,113...10,218,598
Ensembl chrNW_004624776:10,043,258...10,219,104 		JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chrNW_004624761:14,330,224...14,380,680
Ensembl chrNW_004624761:14,330,489...14,379,051 		JBrowse link
G Krit1 KRIT1 ankyrin repeat containing susceptibility ISO 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 ClinVar
RGD		 PMID:3393196 PMID:7898703 PMID:9065560 PMID:9536098 PMID:10508515 More... RGD:1598379 NCBI chrNW_004624809:978,391...1,036,313
Ensembl chrNW_004624809:978,789...1,039,091 		JBrowse link
G LOC101724157 lanosterol 14-alpha demethylase ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 More... NCBI chrNW_004624809:1,080,427...1,110,802
Ensembl chrNW_004624809:1,080,656...1,100,254 		JBrowse link
G Lrrd1 leucine rich repeats and death domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 More... NCBI chrNW_004624809:1,052,787...1,067,770
Ensembl chrNW_004624809:1,052,811...1,067,622 		JBrowse link
G Mterf1 mitochondrial transcription termination factor 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 More... NCBI chrNW_004624809:1,322,155...1,333,495 JBrowse link
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624901:2,292,257...2,328,433
Ensembl chrNW_004624901:2,292,640...2,328,433 		JBrowse link
G Pdcd10 programmed cell death 10 ISO 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 chrNW_004624730:45,653,470...45,698,461
Ensembl chrNW_004624730:45,654,022...45,678,745 		JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26122242 RGD:11552573 NCBI chrNW_004624813:1,953,796...1,979,846
Ensembl chrNW_004624813:1,949,614...1,979,882 		JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:brain (human) RGD PMID:19061355 RGD:12859036 NCBI chrNW_004624791:13,975,235...14,056,900 JBrowse link
G Serpini1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chrNW_004624730:45,698,714...45,791,744
Ensembl chrNW_004624730:45,739,911...45,795,570 		JBrowse link
cerebral cavernous malformation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krit1 KRIT1 ankyrin repeat containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 1 | ClinVar Annotator: match by term: KRIT1-Related Disorders | ClinVar Annotator: match by term: KRIT1-related condition OMIM
ClinVar		 PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 More... NCBI chrNW_004624809:978,391...1,036,313
Ensembl chrNW_004624809:978,789...1,039,091 		JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 1 ClinVar PMID:25741868 NCBI chrNW_004624730:45,653,470...45,698,461
Ensembl chrNW_004624730:45,654,022...45,678,745 		JBrowse link
G Ptgis prostaglandin I2 synthase exacerbates ISO DNA:silent mutation:CDS:p.L256L (rs5628) (human) RGD PMID:26795600 RGD:401960081 NCBI chrNW_004624790:5,850,647...5,885,754
Ensembl chrNW_004624790:5,850,810...5,886,014 		JBrowse link
cerebral cavernous malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: CCM2-related condition | ClinVar Annotator: match by term: Cerebral cavernous malformation 2 OMIM
ClinVar		 PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 More... NCBI chrNW_004624740:7,308,178...7,348,681
Ensembl chrNW_004624740:7,308,177...7,348,689 		JBrowse link
G Nacad NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 2 ClinVar PMID:17160895 PMID:28492532 NCBI chrNW_004624740:7,299,294...7,307,056 JBrowse link
cerebral cavernous malformation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdcd10 programmed cell death 10 onset
exacerbates 		ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 3 | ClinVar Annotator: match by term: Cerebral cavernous malformations 3
DNA:mutations:multiple (human) 		OMIM
ClinVar
RGD		 PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:16380626 More... RGD:401827114 RGD:401827115 NCBI chrNW_004624730:45,653,470...45,698,461
Ensembl chrNW_004624730:45,654,022...45,678,745 		JBrowse link
G Serpini1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 3 ClinVar PMID:15543491 PMID:18300272 PMID:23801932 PMID:25741868 PMID:28492532 NCBI chrNW_004624730:45,698,714...45,791,744
Ensembl chrNW_004624730:45,739,911...45,795,570 		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 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 4 | ClinVar Annotator: match by term: Cerebral cavernous malformations 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137 		JBrowse link
Cerebral Cavernous Malformation 5 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 ISO ClinVar Annotator: match by term: CEREBRAL CAVERNOUS MALFORMATIONS 5, SOMATIC | ClinVar Annotator: match by term: Cerebral cavernous malformations 5 OMIM
ClinVar		 PMID:25741868 PMID:33729480 PMID:33891857 NCBI chrNW_004624849:1,118,275...1,186,244
Ensembl chrNW_004624849:1,118,492...1,185,777 		JBrowse link
Familial Cerebral Cavernous Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:20488708 RGD:11039024 NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521 		JBrowse link
G Cand2 cullin associated and neddylation dissociated 2 (putative) ISO RGD PMID:31426861 RGD:18899564 NCBI chrNW_004624872:404,263...429,866
Ensembl chrNW_004624872:404,495...429,322 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14234
    disease of anatomical entity 13936
      nervous system disease 12272
        Nervous System Malformations 2318
          Central Nervous System Vascular Malformations 52
            cerebral cavernous malformation 20
              Familial Cerebral Cavernous Malformation + 10
Path 2
Term Annotations click to browse term
  disease 14234
    disease of anatomical entity 13936
      Hemic and Lymphatic Diseases 3785
        hematopoietic system disease 3351
          blood coagulation disease 1271
            hemorrhagic disease 1228
              vascular hemostatic disease 444
                cavernous hemangioma 21
                  cerebral cavernous malformation 20
                    Familial Cerebral Cavernous Malformation + 10
paths to the root