Fetal akinesia deformation sequence
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| FETAL AKINESIA DEFORMATION SEQUENCE | DOK7 | Unknown | Orphanet | ||
| GLDN | Unknown | Orphanet | |||
| KIF21A | Unknown | Orphanet | |||
| MAGEL2 | Unknown | Orphanet | |||
| MUSK | Unknown | Orphanet | |||
| MYOD1 | Unknown | Orphanet | |||
| NUP88 | Unknown | Orphanet | |||
| RAPSN | Unknown | Orphanet | |||
| SLC18A3 | Unknown | Orphanet | |||
| TUBA1A | Unknown | Orphanet | |||
| FETAL AKINESIA DEFORMATION SEQUENCE 1 | DOK7 | Causal | GWAS catalog | ||
| MUSK | Causal | ClinVar GWAS catalog HPO | |||
| RAPSN | Causal | HPO | |||
| MYOD1 | Unknown | GWAS catalog | |||
| NUP88 | Unknown | GWAS catalog | |||
| SLC18A3 | Unknown | CTD | |||
| FETAL AKINESIA DEFORMATION SEQUENCE 2 | RAPSN | Causal | ClinVar Disgenet GWAS catalog HPO | ||
| FETAL AKINESIA DEFORMATION SEQUENCE 3 | DOCK7 | Causal | — | Disgenet | |
| DOK7 | Causal | ClinVar Disgenet HPO | |||
| FETAL AKINESIA DEFORMATION SEQUENCE 4 | NUP88 | Causal | ClinVar Disgenet GWAS catalog HPO | ||
| FOCAL SEGMENTAL GLOMERULOSCLEROSIS | ALMS1 | Unknown | GWAS catalog |