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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
LATS2
(HGNC:6515)
Moderate
Weak
Moderate
Weak
Strong
Weak
LATS1
(HGNC:6514)
Weak
Weak
Moderate
Moderate
Moderate
Weak
LAMC3
(HGNC:6494)
Strong
Strong
Weak
Weak
Strong
Strong
LAMA1
(HGNC:6481)
Strong
Strong
Moderate
Strong
Strong
Strong
LAMA5
(HGNC:6485)
Moderate
Weak
Moderate
Weak
Moderate
Moderate
LAMC2
(HGNC:6493)
Strong
Strong
Moderate
Moderate
Strong
Strong
ARAF
(HGNC:646)
Moderate
Moderate
Weak
Weak
Moderate
Moderate
KRT6A
(HGNC:6443)
Strong
Strong
Moderate
Strong
Strong
Strong
KRT9
(HGNC:6447)
Strong
Strong
Moderate
Strong
Strong
Strong
KRT86
(HGNC:6463)
Strong
Strong
Moderate
Strong
Strong
Strong
KRT4
(HGNC:6441)
Strong
Strong
Moderate
Strong
Strong
Strong
KRT16
(HGNC:6423)
Strong
Strong
Moderate
Strong
Strong
Strong
KRT17
(HGNC:6427)
Strong
Strong
Moderate
Moderate
Strong
Strong
KRT2
(HGNC:6439)
Strong
Strong
Moderate
Moderate
Strong
Strong
KRT13
(HGNC:6415)
Moderate
Strong
Moderate
Strong
Strong
Strong
KRT12
(HGNC:6414)
Strong
Moderate
Strong
Strong
Strong
Strong
KRT10
(HGNC:6413)
Strong
Strong
Moderate
Strong
Moderate
Strong
MAFB
(HGNC:6408)
Strong
Moderate
Moderate
Strong
Strong
Strong
KPTN
(HGNC:6404)
Strong
Strong
Moderate
Strong
Strong
Strong
KIF5C
(HGNC:6325)
Strong
Strong
Moderate
Weak
Strong
Strong
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