Moyamoya Disease Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive, X-linked dominant mode(s) within the Neuronal disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive, X-linked 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 | ACTA2/59 | actin alpha 2, smooth muscle | 10q23.31 | Chr10, NC_000010.11 (88935074..88991337, complement) |
56264 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | RNF213/57674 | ring finger protein 213 | 17q25.3 | Chr17, NC_000017.11 (80260852..80398794) |
137943 nt | 74 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | GUCY1A1/2982 | guanylate cyclase 1 soluble subunit alpha 1 | 4q32.1 | Chr4, NC_000004.12 (155666848..155737059) |
70212 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | ANO1/55107 | anoctamin 1 | 11q13.3 | Chr11, NC_000011.10 (69965997..70189530) |
223534 nt | 31 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GARD GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |