SCA4_ZFHX3

Gene
ZFHX3
Disease
SCA4
Inheritance
AD
Classification
Definitive
Total Score
13.5
Publications Reviewed
7
Publication Span
22.08 years
Last Updated
08/18/2025
Curator(s)
Macayla Weiner, Laurel Hiatt

Genetic evidence

Total: 9.5

Singular EvidenceProbandsPMID:3803588165 probands
Collective EvidenceAllelePMID:390956192
Collective EvidenceSegregationPMID:127968261.5
3 rows

Experimental evidence

Total: 4

FunctionProtein interactionPMID:386849000.5
FunctionRegulatory impactPMID:38197134 PMID:38684900 PMID:39635987 PMID:404591841.5expression x2, methylation x2
Functional AlterationPatient cellsPMID:386849001
ModelsCell culturePMID:386849001
4 rows

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.