Disease: Parastremmatic dwarfism ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1868616
Disease: Parastremmatic dwarfism
Parastremmatic dwarfism 		0.730 GermlineCausalMutation disease ORPHANET We conclude that SED Maroteaux type and parastremmatic dysplasia are part of the TRPV4 dysplasia family and that TRPV4 mutations show considerable variability in phenotypic expression resulting in distinct clinical-radiographic phenotypes. 20503319 2010
CUI: C1868616
Disease: Parastremmatic dwarfism
Parastremmatic dwarfism 		0.730 GeneticVariation disease UNIPROT We conclude that SED Maroteaux type and parastremmatic dysplasia are part of the TRPV4 dysplasia family and that TRPV4 mutations show considerable variability in phenotypic expression resulting in distinct clinical-radiographic phenotypes. 20503319 2010
CUI: C1868616
Disease: Parastremmatic dwarfism
Parastremmatic dwarfism 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C1868616
Disease: Parastremmatic dwarfism
Parastremmatic dwarfism 		0.730 Biomarker disease CTD_human
CUI: C1868616
Disease: Parastremmatic dwarfism
Parastremmatic dwarfism 		0.730 Biomarker disease GENOMICS_ENGLAND