Hypomyelinating leukodystrophy
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| HYPOMYELINATING LEUKODYSTROPHY 10 | PYCR2 | Causal | ClinVar | |||
| HYPOMYELINATING LEUKODYSTROPHY 11 | POLR1C | Causal | — | ClinVar, GenCC | ||
| HYPOMYELINATING LEUKODYSTROPHY 12 | VPS11 | Causal | ClinVar, GWAS catalog | |||
| HYPOMYELINATING LEUKODYSTROPHY 13 | HIKESHI | Causal | ClinGen, ClinVar, GWAS catalog | |||
| HYPOMYELINATING LEUKODYSTROPHY 2 | GJC2 | Causal | ClinGen, ClinVar, Disgenet | |||
| HYPOMYELINATING LEUKODYSTROPHY 3 | AIMP1 | Causal | ClinGen, ClinVar | |||
| HYPOMYELINATING LEUKODYSTROPHY 4 | HSPD1 | Causal | CTD, ClinVar | |||
| HYPOMYELINATING LEUKODYSTROPHY 6 | TUBB4A | Causal | ClinVar, GWAS catalog | |||
| HYPOMYELINATING LEUKODYSTROPHY 8 WITH OR WITHOUT OLIGODONTIA AND-OR HYPOGONADOTROPIC HYPOGONADISM | POLR3B | Causal | — | ClinVar, GenCC | ||
| HYPOMYELINATING LEUKODYSTROPHY 9 | RARS1 | Causal | ClinVar, GWAS catalog | |||
| LEUKODYSTROPHY, HYPOMYELINATING, 14 | UFM1 | Causal | ClinVar, Disgenet, HPO, Orphanet | — | ||
| LEUKODYSTROPHY, HYPOMYELINATING, 15 | EPRS1 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| LEUKODYSTROPHY, HYPOMYELINATING, 16 | TMEM106B | Causal | ClinGen, ClinVar, Disgenet, HPO | — | ||
| LEUKODYSTROPHY, HYPOMYELINATING, 17 | AIMP2 | Causal | ClinGen, ClinVar, Disgenet, HPO | |||
| LEUKODYSTROPHY, HYPOMYELINATING, 18 | DEGS1 | Causal | ClinGen, ClinVar, Disgenet, GWAS catalog, HPO | |||
| LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE | TMEM63A | Causal | ClinVar, Disgenet, HPO | |||
| LEUKODYSTROPHY, HYPOMYELINATING, 20 | CNP | Causal | — | ClinVar, Disgenet, GenCC, HPO | — | |
| LEUKODYSTROPHY, HYPOMYELINATING, 21 | POLR3K | Causal | ClinGen, ClinVar, GWAS catalog, HPO | |||
| LEUKODYSTROPHY, HYPOMYELINATING, 22 | CLDN11 | Causal | ClinVar, Disgenet, HPO | |||
| LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY | RNF220 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| LEUKODYSTROPHY, HYPOMYELINATING, 24 | ATP11A | Causal | — | ClinVar, GenCC, HPO | ||
| LEUKODYSTROPHY, HYPOMYELINATING, 25 | TMEM163 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | — | ||
| LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA | SLC35B2 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM | POLR3A | Causal | HPO | |||
| POLR3B | Causal | — | HPO |