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 |
|
HOXA13
(HGNC:5102)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
HOXA11
(HGNC:5101)
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
|
|
HNRNPU
(HGNC:5048)
|
Strong
|
Strong
|
Weak
|
Moderate
|
Moderate
|
Strong
|
|
|
HMGCS2
(HGNC:5008)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
FOXA2
(HGNC:5022)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
HNRNPK
(HGNC:5044)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
MNX1
(HGNC:4979)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
HLCS
(HGNC:4976)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
RIPK4
(HGNC:496)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
HK1
(HGNC:4922)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
HINT1
(HGNC:4912)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
HIBCH
(HGNC:4908)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
HERC2
(HGNC:4868)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
HGD
(HGNC:4892)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
HCN1
(HGNC:4845)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
HCCS
(HGNC:4837)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
HARS1
(HGNC:4816)
|
Strong
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Strong
|
|
|
HBZ
(HGNC:4835)
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Moderate
|
|
|
HSD17B10
(HGNC:4800)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
HAND2
(HGNC:4808)
|
Moderate
|
Strong
|
Strong
|
Weak
|
Strong
|
Strong
|
|