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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
PDX1
(HGNC:6107)
 Moderate Weak Moderate Moderate Weak Strong
IL17RA
(HGNC:5985)
 Moderate Weak Strong Strong Strong Strong
IL11RA
(HGNC:5967)
 Moderate Moderate Strong Moderate Strong Strong
IKBKB
(HGNC:5960)
 Weak Weak Strong Strong Weak Strong
IL10RB
(HGNC:5965)
 Moderate Moderate Strong Moderate Strong Strong
IGSF1
(HGNC:5948)
 Weak Moderate Moderate Strong Strong Strong
IHH
(HGNC:5956)
 Moderate Weak Strong Strong Moderate Moderate
BIRC3
(HGNC:591)
 Weak Moderate Weak Weak Weak Moderate
AP4M1
(HGNC:574)
 Strong Weak Strong Moderate Strong Strong
AP3B1
(HGNC:566)
 Weak Moderate Strong Strong Strong Strong
AP1S2
(HGNC:560)
 Moderate Moderate Strong Strong Strong Strong
IGHMBP2
(HGNC:5542)
 Moderate Weak Strong Strong Strong Strong
AP2S1
(HGNC:565)
 Strong Moderate Strong Strong Strong Strong
NOTCH2NLC
(HGNC:53924)
 Moderate Weak Moderate Moderate Strong Strong
IGFBP7
(HGNC:5476)
 Strong Moderate Strong Strong Strong Strong
IGFALS
(HGNC:5468)
 Weak Strong Moderate Strong Strong Strong
ANXA11
(HGNC:535)
 Moderate Weak Moderate Moderate Moderate Moderate
IARS1
(HGNC:5330)
 Weak Weak Strong Moderate Strong Strong
HSD17B4
(HGNC:5213)
 Moderate Weak Moderate Strong Strong Strong
HSPA9
(HGNC:5244)
 Weak Weak Strong Weak Strong Strong
Showing 301–320 of 1365