SPART, spartin, 23111

N. diseases: 110; N. variants: 6
Disease: Dysmorphic features ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Recurrent null mutation in SPG20 leads to Troyer syndrome. 26003402 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR The role of spartin and its novel ubiquitin binding region in DALIS occurrence. 24523286 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Developmental and degenerative features in a complicated spastic paraplegia. 20437587 2010
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis. 20719964 2010
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR A role for ubiquitin ligases and Spartin/SPG20 in lipid droplet turnover. 19307600 2009
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Structural basis for midbody targeting of spastin by the ESCRT-III protein CHMP1B. 18997780 2008
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia. 15372254 2004
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. 12134148 2002
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting. 6022528 1967