Arterial tortuosity syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
ARTERIAL TORTUOSITY SYNDROME
2080503342C1859726MESH:C565942MONDO:0008818
SLC2A10 Causal
16550171 14569121 17935213 20547159
CTD, ClinGen, ClinVar, Disgenet, HPO, Orphanet
ARTERIAL TORTUOSITY-BONE FRAGILITY SYNDROME
620908C5935641MONDO:0971179
EMILIN1 Causal
36351433 40062121
ClinGen, ClinVar, Disgenet, GWAS catalog, HPO
All3 Causal2 Unknown1
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