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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
SLC11A2
(HGNC:10908)
 Moderate Moderate Strong Weak Strong Strong
SIX3
(HGNC:10889)
 Weak Weak Weak Weak Moderate Moderate
DST
(HGNC:1090)
 Weak Weak Strong Strong Strong Strong
SLC10A1
(HGNC:10905)
 Strong Moderate Strong Strong Strong Strong
PMEL
(HGNC:10880)
 Weak Weak Moderate Weak Moderate Strong
ST3GAL5
(HGNC:10872)
 Moderate Moderate Strong Strong Strong Strong
STIL
(HGNC:10879)
 Moderate Moderate Strong Moderate Moderate Moderate
SH3BP2
(HGNC:10825)
 Strong Moderate Moderate Strong Strong Strong
SGPL1
(HGNC:10817)
 Weak Moderate Strong Strong Strong Strong
SGSH
(HGNC:10818)
 Strong Moderate Strong Strong Strong Strong
SFTPA1
(HGNC:10798)
 Moderate Weak Moderate Strong Weak Moderate
SF3B4
(HGNC:10771)
 Weak Moderate Strong Strong Moderate Strong
SGCD
(HGNC:10807)
 Weak Moderate Moderate Weak Strong Strong
BMPR1B
(HGNC:1077)
 Weak Weak Strong Strong Weak Strong
SEC23B
(HGNC:10702)
 Weak Moderate Weak Weak Weak Moderate
SEMA3A
(HGNC:10723)
 Weak Weak Weak Moderate Weak Moderate
SEC24D
(HGNC:10706)
 Moderate Weak Moderate Strong Strong Strong
BMP15
(HGNC:1068)
 Moderate Moderate Moderate Strong Weak Strong
BMP1
(HGNC:1067)
 Moderate Moderate Strong Strong Strong Strong
CWC27
(HGNC:10664)
 Strong Moderate Strong Moderate Strong Strong
Showing 1321–1340 of 1365