Brown-vialetto-van laere syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Brown-Vialetto-Van Laere Syndrome 1 | C0796274 | SLC52A2 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| SLC52A3 | Causal Pathogenic evidence from ClinVar | 20206331, 20920669, 21110228, 22273710, 22633641, 22718020, 22824638, 25462087, 26976849, 27272163, 27702554, 28637675, 29053833 | ClinVar | ||
| BROWN-VIALETTO-VAN LAERE SYNDROME 2 | C3553538 | SLC52A2 | Causal Pathogenic evidence from ClinVar | 20463145, 22740598, 22824638, 22864630, 23243084, 24253200, 24616084, 25133958, 25798182, 25807286, 26669662, 27148561, 27702554, 29053833 | ClinVar |
| FBXL6 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |