SCA7_ATXN7

Gene
ATXN7
Disease
SCA7
Inheritance
AD
Classification
Definitive
Total Score
18
Publications Reviewed
4
Publication Span
11.25 years
Last Updated
8/12/25
Curator(s)
Macayla Weiner, Laurel Hiatt

Note: Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.

Genetic evidence

Total: 12

Singular EvidenceProbands6
Collective EvidenceAllele2
Collective EvidenceSegregationPMID:89085151.5
StatisticsCase-control dataPMID:30721448 PMID:28597910 PMID:25900954 PMID:110308066
4 rows

Experimental evidence

Total: 6

FunctionBiochemical functionPMID:184186750.5
FunctionProtein interactionPMID:184186750.5
FunctionRegulatory ImpactPMID:184186750.5
Functional AlterationPatient cellsPMID:184186751
Functional AlterationNon-patient cellsPMID:184186750.5
ModelsNon-human model organismPMID:184186752
ModelsCell culturePMID:184186751
7 rows