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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:Familial Cerebral Cavernous Malformation
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Accession:DOID:9001136 term browser browse the term
Synonyms:exact_synonym: Familial cavernous hemangioma;   Familial cerebral cavernous angioma
 primary_id: MESH:C536610
 xref: GARD:13641;   MONDO:0031037


show annotations for term's descendants           Sort by:
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 chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790 		JBrowse link
G Cand2 cullin associated and neddylation dissociated 2 (putative) IEP RGD PMID:31426861 RGD:18899564 NCBI chr 6:115,751,518...115,782,516
Ensembl chr 6:115,751,499...115,782,518 		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: Cerebral cavernous malformations 1 | ClinVar Annotator: match by term: KRIT1-Related Disorders OMIM
ClinVar		 PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 More... NCBI chr 5:3,853,156...3,894,515
Ensembl chr 5:3,853,184...3,895,564 		JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 1 ClinVar PMID:25741868 NCBI chr 3:75,423,797...75,464,159
Ensembl chr 3:75,423,797...75,464,163 		JBrowse link
G Ptgis prostaglandin I2 (prostacyclin) synthase exacerbates ISO DNA:silent mutation:CDS:p.L256L (rs5628) (human) RGD PMID:26795600 RGD:401960081 NCBI chr 2:167,045,114...167,095,069
Ensembl chr 2:167,033,725...167,082,524 		JBrowse link
cerebral cavernous malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 cerebral cavernous malformation 2 ISO
IAGP		 ClinVar Annotator: match by term: Cerebral cavernous malformation 2
CTD Direct Evidence: marker/mechanism
OMIM:603284		 OMIM
ClinVar
CTD
MouseDO		 PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 More... NCBI chr11:6,496,887...6,546,761
Ensembl chr11:6,496,887...6,546,744 		JBrowse link
G Nacad NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 2 ClinVar PMID:17160895 PMID:28492532 NCBI chr11:6,547,814...6,556,059
Ensembl chr11:6,547,823...6,556,053 		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
IAGP		 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)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
MouseDO
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 3:75,423,797...75,464,159
Ensembl chr 3:75,423,797...75,464,163 		JBrowse link
G Serpini1 serine (or cysteine) peptidase inhibitor, clade I, member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 3 ClinVar NCBI chr 3:75,464,800...75,549,830
Ensembl chr 3:75,464,854...75,550,802 		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 OMIM
ClinVar		 PMID:25741868 NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16121
    disease of anatomical entity 15680
      nervous system disease 13560
        Nervous System Malformations 2399
          Central Nervous System Vascular Malformations 51
            cerebral cavernous malformation 18
              Familial Cerebral Cavernous Malformation 9
                Cerebral Cavernous Malformation 4 1
                cerebral cavernous malformation 1 3
                cerebral cavernous malformation 2 2
                cerebral cavernous malformation 3 2
Path 2
Term Annotations click to browse term
  disease 16121
    disease of anatomical entity 15680
      Hemic and Lymphatic Diseases 3781
        hematopoietic system disease 3277
          blood coagulation disease 947
            hemorrhagic disease 901
              vascular hemostatic disease 483
                cavernous hemangioma 19
                  cerebral cavernous malformation 18
                    Familial Cerebral Cavernous Malformation 9
                      Cerebral Cavernous Malformation 4 1
                      cerebral cavernous malformation 1 3
                      cerebral cavernous malformation 2 2
                      cerebral cavernous malformation 3 2
paths to the root