Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796019
Disease: SPASTIC PARAPLEGIA 23 (disorder)
SPASTIC PARAPLEGIA 23 (disorder)
0.600 Biomarker disease GENOMICS_ENGLAND Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23. 28157540 2017
CUI: C0796019
Disease: SPASTIC PARAPLEGIA 23 (disorder)
SPASTIC PARAPLEGIA 23 (disorder)
0.600 Biomarker disease GENOMICS_ENGLAND Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23. 28157540 2017
CUI: C0796019
Disease: SPASTIC PARAPLEGIA 23 (disorder)
SPASTIC PARAPLEGIA 23 (disorder)
0.600 Biomarker disease GENOMICS_ENGLAND Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23. 28157540 2017
CUI: C0796019
Disease: SPASTIC PARAPLEGIA 23 (disorder)
SPASTIC PARAPLEGIA 23 (disorder)
0.600 GermlineCausalMutation disease ORPHANET Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23. 28157540 2017
CUI: C0796019
Disease: SPASTIC PARAPLEGIA 23 (disorder)
SPASTIC PARAPLEGIA 23 (disorder)
0.600 Biomarker disease CTD_human