SPART, spartin, 23111

N. diseases: 110; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7981274
rs7981274
Entrez Id: 23111;100507135
Gene Symbol: SPART;SPART-AS1
SPART;SPART-AS1
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1399213398
rs1399213398
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0393559
Disease:
Troyer syndrome 		0.700 GeneticVariation UNIPROT Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency. 27539578 2017
dbSNP: rs1399213398
rs1399213398
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0393559
Disease:
Troyer syndrome 		0.700 GeneticVariation UNIPROT Novel SPG20 mutation in an extended family with Troyer syndrome. 28875386 2017
dbSNP: rs775736341
rs775736341
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065 2015
dbSNP: rs775736341
rs775736341
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Recurrent null mutation in SPG20 leads to Troyer syndrome. 26003402 2015
dbSNP: rs775736341
rs775736341
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR The role of spartin and its novel ubiquitin binding region in DALIS occurrence. 24523286 2014
dbSNP: rs775736341
rs775736341
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis. 20719964 2010
dbSNP: rs775736341
rs775736341
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Developmental and degenerative features in a complicated spastic paraplegia. 20437587 2010
dbSNP: rs775736341
rs775736341
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0393559
Disease:
Troyer syndrome 		C 0.700 CausalMutation CLINVAR Developmental and degenerative features in a complicated spastic paraplegia. 20437587 2010
dbSNP: rs775736341
rs775736341
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR A role for ubiquitin ligases and Spartin/SPG20 in lipid droplet turnover. 19307600 2009
dbSNP: rs775736341
rs775736341
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Structural basis for midbody targeting of spastin by the ESCRT-III protein CHMP1B. 18997780 2008
dbSNP: rs775736341
rs775736341
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia. 15372254 2004
dbSNP: rs1399213398
rs1399213398
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0393559
Disease:
Troyer syndrome 		0.700 GeneticVariation UNIPROT SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. 12134148 2002
dbSNP: rs775736341
rs775736341
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. 12134148 2002
dbSNP: rs775736341
rs775736341
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting. 6022528 1967
dbSNP: rs1060499524
rs1060499524
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0393559
Disease:
Troyer syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs730882198
rs730882198
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0013362
Disease:
Dysarthria 		GT 0.700 GeneticVariation CLINVAR
dbSNP: rs730882198
rs730882198
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0038379
Disease:
Strabismus 		GT 0.700 GeneticVariation CLINVAR
dbSNP: rs730882198
rs730882198
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C2315100
Disease:
Pediatric failure to thrive 		GT 0.700 GeneticVariation CLINVAR
dbSNP: rs730882198
rs730882198
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0004134
Disease:
Ataxia 		GT 0.700 GeneticVariation CLINVAR
dbSNP: rs730882198
rs730882198
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C4551563
Disease:
Microcephaly (physical finding) 		GT 0.700 GeneticVariation CLINVAR
dbSNP: rs730882198
rs730882198
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0557874
Disease:
Global developmental delay 		GT 0.700 GeneticVariation CLINVAR
dbSNP: rs748835312
rs748835312
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0393559
Disease:
Troyer syndrome 		A 0.700 CausalMutation CLINVAR