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
UROS
(HGNC:12592)
 Strong Strong Moderate Strong Strong Strong
UROD
(HGNC:12591)
 Moderate Strong Moderate Strong Moderate Strong
UGDH
(HGNC:12525)
 Strong Strong Moderate Strong Strong Strong
UBTF
(HGNC:12511)
 Strong Strong Weak Weak Strong Moderate
UBQLN2
(HGNC:12509)
 Strong Moderate Moderate Strong Strong Moderate
ACP5
(HGNC:124)
 Strong Strong Moderate Strong Strong Strong
TNNT3
(HGNC:11950)
 Moderate Moderate Moderate Strong Moderate Moderate
C1QA
(HGNC:1241)
 Moderate Strong Moderate Strong Strong Strong
TUBB2A
(HGNC:12412)
 Moderate Strong Weak Moderate Moderate Moderate
TUFM
(HGNC:12420)
 Moderate Moderate Weak Moderate Strong Strong
TUB
(HGNC:12406)
 Moderate Moderate Moderate Moderate Moderate Moderate
ACO2
(HGNC:118)
 Strong Moderate Moderate Strong Moderate Strong
TRDN
(HGNC:12261)
 Strong Strong Moderate Weak Strong Strong
TNNI2
(HGNC:11946)
 Strong Strong Moderate Moderate Strong Strong
TRIP11
(HGNC:12305)
 Strong Strong Moderate Moderate Strong Strong
TIMM8A
(HGNC:11817)
 Strong Strong Moderate Strong Strong Strong
ACOX2
(HGNC:120)
 Moderate Strong Moderate Moderate Strong Strong
TRAF3
(HGNC:12033)
 Moderate Weak Weak Weak Moderate Moderate
TPM2
(HGNC:12011)
 Moderate Moderate Moderate Strong Moderate Strong
TIA1
(HGNC:11802)
 Moderate Moderate Moderate Moderate Strong Moderate
Showing 1881–1900 of 2035