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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
FETAL AKINESIA DEFORMATION SEQUENCE
994
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
All12 Causal5 Unknown11