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
ALG11
(HGNC:32456)
 Moderate Strong Moderate Moderate Strong Strong
EIF2B1
(HGNC:3257)
 Weak Moderate Weak Weak Moderate Weak
EFNB1
(HGNC:3226)
 Strong Strong Moderate Strong Strong Strong
EFEMP2
(HGNC:3219)
 Strong Strong Moderate Strong Moderate Strong
EFEMP1
(HGNC:3218)
 Moderate Moderate Moderate Strong Moderate Moderate
CEACAM16
(HGNC:31948)
 Moderate Strong Moderate Moderate Moderate Moderate
EEF1A2
(HGNC:3192)
 Moderate Strong Moderate Weak Moderate Moderate
NBEAL2
(HGNC:31928)
 Strong Moderate Moderate Strong Strong Strong
AGA
(HGNC:318)
 Strong Strong Moderate Strong Strong Strong
EDN3
(HGNC:3178)
 Moderate Strong Moderate Moderate Moderate Moderate
EED
(HGNC:3188)
 Strong Strong Moderate Moderate Strong Strong
AFG3L2
(HGNC:315)
 Strong Moderate Moderate Strong Moderate Strong
SAMD12
(HGNC:31750)
 Moderate Weak Weak Moderate Moderate Strong
ECM1
(HGNC:3153)
 Strong Strong Moderate Strong Strong Strong
ECHS1
(HGNC:3151)
 Strong Strong Moderate Strong Strong Strong
TYMP
(HGNC:3148)
 Weak Strong Strong Strong Strong Strong
ECEL1
(HGNC:3147)
 Strong Strong Moderate Strong Strong Strong
E2F4
(HGNC:3118)
 Weak Weak Weak Weak Weak Weak
GREB1L
(HGNC:31042)
 Strong Moderate Moderate Strong Strong Strong
SECISBP2
(HGNC:30972)
 Strong Strong Moderate Strong Strong Strong
Showing 1141–1160 of 2035