Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		0.800 CausalMutation CLINVAR Null mutations in SPG20 cause Troyer syndrome, a specific clinical entity with developmental and degenerative features. 20437587

2010
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 GeneticVariation CLINVAR

Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065

2015
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Recurrent null mutation in SPG20 leads to Troyer syndrome. 26003402

2015
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR The role of spartin and its novel ubiquitin binding region in DALIS occurrence. 24523286

2014
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Developmental and degenerative features in a complicated spastic paraplegia. 20437587

2010
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis. 20719964

2010
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR A role for ubiquitin ligases and Spartin/SPG20 in lipid droplet turnover. 19307600

2009
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Structural basis for midbody targeting of spastin by the ESCRT-III protein CHMP1B. 18997780

2008
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia. 15372254

2004
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. 12134148

2002
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting. 6022528

1967
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 GeneticVariation CLINVAR

Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 GeneticVariation CLINVAR

Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 GeneticVariation CLINVAR

Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 GeneticVariation CLINVAR

Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 GeneticVariation CLINVAR