Cerebral Cavernous Malformation(Famililal cerebral cavernous malformations) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Neuronal disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Neuronal disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | PDCD10/11235 | programmed cell death 10 | 3q26.1 | Chr3, NC_000003.12 (167683298..167734892, complement) |
51595 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | CCM2/83605 | CCM2 scaffold protein | 7p13 | Chr7, NC_000007.14 (44999746..45076470) |
76725 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | KRIT1/889 | KRIT1 ankyrin repeat containing | 7q21.2 | Chr7, NC_000007.14 (92198969..92246100, complement) |
47132 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | NOTCH3/4854 | notch receptor 3 | 19p13.12 | Chr19, NC_000019.10 (15159038..15200995, complement) |
41958 nt | 33 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||
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