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
KCNA1
(HGNC:6218)
 Strong Moderate Moderate Moderate Moderate Strong
KARS1
(HGNC:6215)
 Moderate Moderate Moderate Moderate Moderate Moderate
IVD
(HGNC:6186)
 Moderate Strong Moderate Strong Strong Strong
JARID2
(HGNC:6196)
 Moderate Moderate Weak Weak Moderate Moderate
ITK
(HGNC:6171)
 Strong Strong Moderate Moderate Strong Strong
ITM2B
(HGNC:6174)
 Strong Moderate Moderate Strong Strong Strong
ITGA6
(HGNC:6142)
 Moderate Moderate Moderate Moderate Moderate Moderate
ITGA3
(HGNC:6139)
 Strong Strong Moderate Moderate Strong Strong
IL1RAPL1
(HGNC:5996)
 Strong Moderate Moderate Moderate Strong Strong
ISL1
(HGNC:6132)
 Strong Moderate Moderate Weak Strong Strong
PDX1
(HGNC:6107)
 Moderate Moderate Moderate Moderate Moderate Strong
IL17RA
(HGNC:5985)
 Moderate Weak Strong Strong Strong Strong
IL11RA
(HGNC:5967)
 Strong Strong Moderate Strong Strong Strong
IKBKB
(HGNC:5960)
 Moderate Moderate Moderate Strong Moderate Strong
IL10RB
(HGNC:5965)
 Strong Strong Moderate Strong Strong Strong
IGSF1
(HGNC:5948)
 Strong Strong Moderate Strong Strong Strong
IHH
(HGNC:5956)
 Strong Moderate Moderate Strong Moderate Moderate
BIRC3
(HGNC:591)
 Weak Moderate Weak Weak Weak Moderate
AP4M1
(HGNC:574)
 Strong Strong Moderate Strong Strong Strong
AP3B1
(HGNC:566)
 Strong Strong Moderate Strong Strong Strong
Showing 961–980 of 2035