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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
SARS1
(HGNC:10537)
Moderate
Moderate
Moderate
Weak
Weak
Moderate
SAR1B
(HGNC:10535)
Strong
Strong
Moderate
Strong
Strong
Strong
SAA1
(HGNC:10513)
Moderate
Strong
Strong
Moderate
Moderate
Strong
S100A4
(HGNC:10494)
Weak
Weak
Weak
Weak
Weak
Weak
RXRG
(HGNC:10479)
Weak
Moderate
Weak
Moderate
Moderate
Weak
BGN
(HGNC:1044)
Strong
Strong
Moderate
Weak
Strong
Strong
BFSP2
(HGNC:1041)
Moderate
Strong
Strong
Weak
Strong
Moderate
RPS26
(HGNC:10414)
Moderate
Strong
Weak
Moderate
Moderate
Moderate
RPS20
(HGNC:10405)
Strong
Strong
Moderate
Weak
Strong
Strong
CNNM2
(HGNC:103)
Moderate
Strong
Moderate
Moderate
Moderate
Strong
RPS17
(HGNC:10397)
Strong
Strong
Moderate
Moderate
Strong
Strong
RPL4
(HGNC:10353)
Weak
Weak
Weak
Weak
Weak
Weak
RPL26
(HGNC:10327)
Weak
Moderate
Moderate
Moderate
Strong
Moderate
RPL23A
(HGNC:10317)
Weak
Weak
Weak
Weak
Weak
Weak
RPL22
(HGNC:10315)
Weak
Weak
Weak
Weak
Weak
Weak
RPL17
(HGNC:10307)
Weak
Weak
Weak
Weak
Weak
Weak
RPL11
(HGNC:10301)
Strong
Moderate
Moderate
Moderate
Strong
Strong
RPL10
(HGNC:10298)
Strong
Strong
Moderate
Moderate
Strong
Strong
RPIA
(HGNC:10297)
Moderate
Strong
Weak
Weak
Strong
Moderate
BDH1
(HGNC:1027)
Strong
Moderate
Weak
Weak
Moderate
Moderate
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