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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
ASPHYXIA NEONATORUM BMP1 Unknown GWAS catalog
BRINP1 Unknown GWAS catalog —
CARD16 Unknown GWAS catalog
CAT Unknown CTD, Disgenet
CLDN24 Unknown GWAS catalog
COL1A1 Unknown — Disgenet
GSTM1 Unknown — Disgenet
KAZN Unknown GWAS catalog
KHDRBS3 Unknown GWAS catalog
LIN28B Unknown GWAS catalog —
LUZP2 Unknown GWAS catalog —
MAP3K14 Unknown GWAS catalog
OR4E2 Unknown GWAS catalog
PSEN1 Unknown CTD, Disgenet
PSEN2 Unknown CTD, Disgenet
PTGS2 Unknown CTD, Disgenet
RASGEF1B Unknown GWAS catalog —
SEMA6D Unknown GWAS catalog
SOD1 Unknown CTD, Disgenet
SOD2 Unknown CTD, Disgenet
THADA Unknown GWAS catalog
ZCCHC7 Unknown GWAS catalog
ZFR Unknown GWAS catalog —
ZNF787 Unknown GWAS catalog —
ASPHYXIATING THORACIC DYSPLASIA JEUNE CEP120 Unknown — Disgenet —
DYNC2H1 Unknown — Disgenet
DYNC2I1 Unknown — Disgenet —
DYNC2I2 Unknown — Disgenet —
DYNC2LI1 Unknown — Disgenet
DYNLT2B Unknown — Disgenet —
IFT140 Unknown — Disgenet
IFT172 Unknown — Disgenet
IFT52 Unknown — Disgenet
INTU Unknown — Disgenet
KIAA0586 Unknown — Disgenet —
KIAA0753 Unknown — Disgenet —
NEK1 Unknown — Disgenet —
TTC21B Unknown — Disgenet
WDR19 Unknown — Disgenet
WDR35 Unknown — Disgenet
ASPHYXIATING THORACIC DYSTROPHY 2 IFT80 Causal CTD, ClinGen, ClinVar, Disgenet
ASPHYXIATING THORACIC DYSTROPHY 3 DYNC2H1 Causal ClinGen, ClinVar, Disgenet
ASPHYXIATING THORACIC DYSTROPHY 4 TTC21B Causal — ClinVar, GenCC
ASPHYXIATING THORACIC DYSTROPHY 5 WDR19 Causal ClinVar, GenCC
JEUNE SYNDROME CEP120 Unknown CTD, Orphanet —
DYNC2H1 Unknown GWAS catalog, Orphanet
DYNC2I1 Unknown GWAS catalog, Orphanet —
DYNC2I2 Unknown GWAS catalog, Orphanet —
DYNC2LI1 Unknown GWAS catalog, Orphanet
GRK2 Unknown GenCC
IFT140 Unknown Orphanet
IFT172 Unknown CTD, Orphanet
IFT80 Unknown Orphanet
KIAA0753 Unknown Orphanet —
TTC21B Unknown CTD, GWAS catalog, Orphanet
WDR19 Unknown Disgenet, Orphanet
All42 Causal4 Unknown42