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Proband Tables
Summaries focusing on proband-level evidence; browse by gene.
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Search gene/disease/HGNC/MONDO or name
Strength column
Any
Allelic Consistency
Phenotypic Consistency
Penetrance
Ethnic Diversity
Inheritance Consistency
Mechanism of disease
Strength
Any
Strong
Moderate
Weak
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Gene
Allelic Consistency
Phenotypic Consistency
Penetrance
Ethnic Diversity
Inheritance Consistency
Mechanism of disease
Actions
MST1R
(HGNC:7381)
Moderate
Weak
Weak
Moderate
Weak
Moderate
ASAH1
(HGNC:735)
Strong
Strong
Moderate
Strong
Strong
Strong
MSH5
(HGNC:7328)
Moderate
Moderate
Weak
Moderate
Moderate
Moderate
MSH4
(HGNC:7327)
Strong
Strong
Moderate
Strong
Strong
Strong
MS4A1
(HGNC:7315)
Weak
Weak
Weak
Weak
Moderate
Moderate
MRAS
(HGNC:7227)
Moderate
Strong
Moderate
Weak
Strong
Strong
MN1
(HGNC:7180)
Strong
Strong
Moderate
Moderate
Strong
Strong
MLLT3
(HGNC:7136)
Weak
Weak
Weak
Weak
Weak
Weak
ARR3
(HGNC:710)
Strong
Moderate
Moderate
Strong
Moderate
Moderate
ARPC1B
(HGNC:704)
Strong
Strong
Moderate
Strong
Strong
Strong
MEF2A
(HGNC:6993)
Weak
Weak
Weak
Weak
Weak
Weak
MDH2
(HGNC:6971)
Moderate
Moderate
Moderate
Weak
Moderate
Moderate
ARL3
(HGNC:694)
Strong
Strong
Moderate
Weak
Strong
Strong
MCC
(HGNC:6935)
Weak
Weak
Weak
Moderate
Weak
Weak
MAPK3
(HGNC:6877)
Weak
Weak
Weak
Weak
Weak
Weak
MAP3K3
(HGNC:6855)
Weak
Weak
Weak
Weak
Weak
Weak
MAP1B
(HGNC:6836)
Strong
Strong
Moderate
Weak
Strong
Strong
ABCD3
(HGNC:67)
Moderate
Moderate
Weak
Weak
Weak
Moderate
MADD
(HGNC:6766)
Moderate
Moderate
Weak
Weak
Strong
Moderate
MAD1L1
(HGNC:6762)
Weak
Weak
Weak
Weak
Moderate
Strong
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