| CEREBELLOPARENCHYMAL DISORDER VI |
C1834711 |
EGFR
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
PIK3CA
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
PTEN
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
1097835, 9259288, 9399897, 10353779, 10400993, 10468583, 10749983, 11476841, 14566704, 16007494, 17526800, 17942903, 21659347, 21828076, 21956414, 22252256, 22261759, 22266152, 22595938, 22628360, 23470840, 23475934, 24375884, 24778394, 25669429, 25756585, 26681312, 27477328, 28475857, 28677221 |
- |
| Autosomal recessive cerebelloparenchymal disorder type 3 |
1170 |
PMPCA
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |