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
|
|