| CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 |
C4551768 |
NOTCH3
|
Causal
Pathogenic evidence from ClinVar
|
9388399, 10227618, 10371548, 10712431, 10802807, 10854111, 11058919, 11102981, 11559313, 11755616, 11784372, 11810186, 12136071, 12146805, 12589106, 12810003, 15229130, 15300988, 15350543, 15364702, 15378071, 15818833, 16009764, 16717210, 19242647, 19245392, 19252787, 19528524, 20935329, 21852154, 22367839, 22664156, 23602593, 23649698, 23847153, 24000151, 24139282, 24357685, 24929957, 25344745, 25980907, 26002683, 26308724, 27350778 |
ClinVar |
| COL4A1-related familial vascular leukoencephalopathy |
36383 |
COL4A1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
| Familial vascular leukoencephalopathy |
C2930808 |
COL4A1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
23065703 |
- |
| Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy |
C1838577 |
HTRA1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
11889251, 19387015, 21115960, 21482952, 22900900, 24357685, 24500651, 24535794, 25770224, 25772074, 25957642, 26063658, 27164673 |
- |
