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Proband Tables

Summaries focusing on proband-level evidence; browse by gene.

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Gene Allelic Consistency Phenotypic Consistency Penetrance Ethnic Diversity Inheritance Consistency Mechanism of disease Actions
KRT4
(HGNC:6441)
 Moderate Strong Strong Strong Strong Strong
KRT16
(HGNC:6423)
 Moderate Moderate Strong Strong Strong Strong
KRT17
(HGNC:6427)
 Moderate Moderate Moderate Strong Strong Strong
KRT2
(HGNC:6439)
 Strong Moderate Moderate Weak Strong Strong
KRT13
(HGNC:6415)
 Moderate Strong Moderate Strong Strong Strong
KRT12
(HGNC:6414)
 Moderate Weak Strong Strong Strong Strong
KRT10
(HGNC:6413)
 Moderate Weak Strong Strong Moderate Strong
MAFB
(HGNC:6408)
 Moderate Strong Weak Strong Strong Strong
KPTN
(HGNC:6404)
 Strong Moderate Strong Strong Strong Strong
KIF5C
(HGNC:6325)
 Moderate Weak Weak Weak Strong Moderate
KLKB1
(HGNC:6371)
 Weak Weak Strong Moderate Strong Strong
AQP4
(HGNC:637)
 Weak Weak Moderate Weak Weak Weak
KLF2
(HGNC:6347)
 Weak Weak Moderate Weak Weak Weak
KNG1
(HGNC:6383)
 Weak Weak Strong Strong Strong Strong
KLHL3
(HGNC:6354)
 Weak Moderate Strong Strong Weak Strong
KCNMA1
(HGNC:6284)
 Weak Weak Strong Moderate Weak Strong
KEL
(HGNC:6308)
 Weak Weak Weak Weak Moderate Moderate
KCNK9
(HGNC:6283)
 Moderate Weak Moderate Weak Weak Moderate
KCNN2
(HGNC:6291)
 Weak Weak Strong Weak Strong Moderate
KCNK3
(HGNC:6278)
 Weak Moderate Moderate Weak Strong Strong
Showing 261–280 of 1365