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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
GOSR2
(HGNC:4431)
 Strong Moderate Strong Weak Strong Strong
GNS
(HGNC:4422)
 Weak Moderate Strong Strong Strong Strong
GNMT
(HGNC:4415)
 Weak Moderate Weak Moderate Strong Strong
GNRH1
(HGNC:4419)
 Moderate Strong Moderate Moderate Moderate Strong
GNB5
(HGNC:4401)
 Moderate Moderate Weak Weak Strong Strong
GNAT1
(HGNC:4393)
 Moderate Weak Weak Strong Weak Moderate
GNAL
(HGNC:4388)
 Weak Moderate Moderate Strong Strong Strong
GM2A
(HGNC:4367)
 Moderate Moderate Strong Strong Strong Strong
GNA13
(HGNC:4381)
 Weak Weak Weak Weak Weak Weak
GLI1
(HGNC:4317)
 Weak Weak Moderate Strong Weak Moderate
GLRB
(HGNC:4329)
 Moderate Weak Moderate Strong Weak Strong
GLE1
(HGNC:4315)
 Moderate Weak Strong Moderate Strong Strong
ALOX12B
(HGNC:430)
 Moderate Weak Weak Strong Moderate Moderate
GCLC
(HGNC:4311)
 Weak Moderate Strong Moderate Strong Strong
GK
(HGNC:4289)
 Strong Moderate Strong Strong Strong Strong
GJB4
(HGNC:4286)
 Weak Weak Moderate Strong Weak Moderate
GJA3
(HGNC:4277)
 Moderate Moderate Strong Strong Moderate Strong
GHRHR
(HGNC:4266)
 Moderate Strong Strong Strong Strong Strong
GGCX
(HGNC:4247)
 Weak Weak Moderate Strong Strong Strong
GDF6
(HGNC:4221)
 Weak Weak Moderate Moderate Strong Strong
Showing 381–400 of 1365