Disease: Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2676510
Disease: Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like 		0.710 Biomarker disease GENOMICS_ENGLAND The Ehlers-Danlos syndromes, rare types. 28306225 2017
CUI: C2676510
Disease: Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like 		0.710 Biomarker disease BEFREE Mutations in the ZIP13 gene, SLC39A13, previously were found to cause the spondylocheiro dysplastic form of Ehlers–Danlos syndrome (SCD-EDS), a heritable connective tissue disorder.Those previous studies suggested that ZIP13 transports excess zinc out of the early secretory pathway and that zinc overload in the endoplasmic reticulum (ER) occurs in SCD-EDS patients. 23213233 2012
CUI: C2676510
Disease: Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like 		0.710 GermlineCausalMutation disease ORPHANET Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13. 18513683 2008
CUI: C2676510
Disease: Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like 		0.710 Biomarker disease GENOMICS_ENGLAND The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways. 18985159 2008
CUI: C2676510
Disease: Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like 		0.710 Biomarker disease CTD_human
CUI: C2676510
Disease: Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C2676510
Disease: Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like 		0.710 CausalMutation disease CLINVAR