ehlers-danlos syndrome, classic type

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
Ehlers-Danlos syndrome, classic type
COL5A1 Causal
26188975 25845371 29543232 32938213 28868310 10946364 2180144
ClinGen
COL5A2 Causal
15580559 22696272
ClinGen
All2 Causal2 Unknown0
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Neuropathic spinal arthropathy 2 shared genesCOL5A1, COL5A2 Related via 2 shared genes including COL5A1, COL5A2. Rupture, spontaneous 1 shared geneCOL5A1 Related via 1 shared gene including COL5A1. Loeys-dietz syndrome 2 shared genesCOL5A1, COL5A2 Related via 2 shared genes including COL5A1, COL5A2. Congenital venous anomaly 1 shared geneCOL5A1 Related via 1 shared gene including COL5A1. Corneal disease 1 shared geneCOL5A1 Related via 1 shared gene including COL5A1.