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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
SNAI2
(HGNC:11094)
Weak
Moderate
Moderate
Weak
Moderate
Moderate
SLIT1
(HGNC:11085)
Weak
Weak
Weak
Weak
Weak
Weak
BRD3
(HGNC:1104)
Weak
Weak
Weak
Weak
Weak
Weak
SLC5A6
(HGNC:11041)
Strong
Strong
Moderate
Moderate
Strong
Strong
SLC4A3
(HGNC:11029)
Moderate
Weak
Moderate
Weak
Weak
Moderate
SLC31A1
(HGNC:11016)
Strong
Strong
Moderate
Moderate
Strong
Strong
SLC29A1
(HGNC:11003)
Moderate
Moderate
Weak
Moderate
Strong
Moderate
SLC25A15
(HGNC:10985)
Strong
Strong
Moderate
Strong
Strong
Strong
SLC1A1
(HGNC:10939)
Moderate
Weak
Moderate
Weak
Moderate
Moderate
SLC14A1
(HGNC:10918)
Moderate
Strong
Weak
Strong
Moderate
Strong
SLC10A2
(HGNC:10906)
Weak
Weak
Weak
Weak
Weak
Moderate
ACHE Gene
(HGNC:108)
Weak
Weak
Weak
Weak
Weak
Weak
SIX6
(HGNC:10892)
Moderate
Moderate
Moderate
Moderate
Weak
Moderate
SIX2
(HGNC:10888)
Moderate
Moderate
Moderate
Weak
Strong
Moderate
ST3GAL3
(HGNC:10866)
Moderate
Strong
Moderate
Moderate
Moderate
Moderate
SIAH1
(HGNC:10857)
Moderate
Strong
Moderate
Moderate
Strong
Moderate
SEM1
(HGNC:10845)
Moderate
Strong
Weak
Weak
Moderate
Moderate
SFTPA2
(HGNC:10799)
Moderate
Strong
Moderate
Weak
Strong
Moderate
SFRP4
(HGNC:10778)
Strong
Moderate
Moderate
Moderate
Strong
Moderate
SF3B2
(HGNC:10769)
Moderate
Strong
Moderate
Weak
Strong
Strong
Showing 601–620 of 2035
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