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Gene Lookup for Rare Disease Analysis
Data Updated: 2026-05-18
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Search by disease-associated gene, disease phenotype, or genomic interval:
Examples:
BRCA1
,
cardiomyopathy
,
chr1:1000000-2000000
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Sources
OMIM
ClinGen
GenCC
PanelApp UK
PanelApp AU
Decipher
ClinVar
GWAS
Fridman 2025
Minimum Number of Sources
Inheritance Mode
AD
AR
X-linked
Mitochondrial
Constraint Scores
pLI (v4) ≥
LOEUF ≤
Missense O/E ≤
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