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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
CONNECTIVE TISSUE DISEASES COL1A1 Unknown — Disgenet
COL1A2 Unknown — Disgenet
COL2A1 Unknown — Disgenet
COL3A1 Unknown — Disgenet
COL5A1 Unknown — Disgenet
COL5A2 Unknown — Disgenet
COL9A1 Unknown — Disgenet
COL9A2 Unknown — Disgenet
COL9A3 Unknown — Disgenet
COMP Unknown — Disgenet
DCC Unknown — Disgenet
DDR2 Unknown — Disgenet
DYM Unknown — Disgenet —
EBP Unknown — Disgenet
EFEMP1 Unknown — Disgenet
EIF2AK3 Unknown — Disgenet
FBN1 Unknown — Disgenet
FBN2 Unknown — Disgenet
FGFR3 Unknown — Disgenet
FLNA Unknown — Disgenet
FLNB Unknown — Disgenet
HSPG2 Unknown — Disgenet
IFT122 Unknown — Disgenet
IFT43 Unknown — Disgenet
IFT80 Unknown — Disgenet
LBR Unknown — Disgenet
LDLRAD2 Unknown — Disgenet —
LIFR Unknown — Disgenet
LOX Unknown — Disgenet
MATN3 Unknown — Disgenet
MFAP5 Unknown — Disgenet
MYH11 Unknown — Disgenet
NDE1 Unknown — Disgenet
NEK1 Unknown — Disgenet —
NKX3-2 Unknown — Disgenet —
NOTCH1 Unknown — Disgenet
NSDHL Unknown — Disgenet
OFD1 Unknown — Disgenet
PEX7 Unknown — Disgenet
PIEZO2 Unknown — Disgenet —
PRDM5 Unknown — Disgenet —
PRKG1 Unknown — Disgenet
PTH1R Unknown — Disgenet
SHOX Unknown — Disgenet —
SLC26A2 Unknown — Disgenet
SLC35D1 Unknown — Disgenet
SLC39A13 Unknown CTD, Disgenet
SMAD3 Unknown — Disgenet
SNRPA Unknown — Disgenet
SNRPA1 Unknown — Disgenet
CONNECTIVE TISSUE DISORDER DCC Unknown — GenCC
NOTCH1 Unknown GenCC
PIEZO2 Unknown GenCC —
All117 Causal1 Unknown117