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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
CHST3-RELATED SKELETAL DYSPLASIA CHST3 Unknown Orphanet
SKELETAL DYSPLASIA ANKH Unknown — Disgenet, GenCC
CHST3 Unknown — Disgenet
COL1A1 Unknown — Disgenet
COL5A1 Unknown — Disgenet
CTSK Unknown — Disgenet
DYNC2H1 Unknown — Disgenet
FGFR3 Unknown — Disgenet
INPP5E Unknown — Disgenet
LOXL4 Unknown — Disgenet, GenCC
MSGN1 Unknown — Disgenet, GenCC —
PRMT7 Unknown — Disgenet
SEMA3A Unknown Disgenet, GWAS catalog
SEMA3D Unknown GWAS catalog
SLC26A2 Unknown GenCC
TMEM53 Unknown GenCC —
TP63 Unknown — Disgenet
UXS1 Unknown — Disgenet, GenCC
SKELETAL DYSPLASIA, T-CELL IMMUNODEFICIENCY, DEVELOPMENTAL DELAY SYNDROME EXTL3 Unknown — Disgenet
SKELETAL DYSPLASIA-T-CELL IMMUNODEFICIENCY-DEVELOPMENTAL DELAY SYNDROME EXTL3 Unknown Orphanet
All23 Causal6 Unknown18