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
RASGRP1
(HGNC:9878)
 Strong Strong Moderate Moderate Strong Strong
RASGRP2
(HGNC:9879)
 Strong Strong Moderate Strong Moderate Strong
RARG
(HGNC:9866)
 Weak Weak Weak Weak Moderate Weak
RAC1
(HGNC:9801)
 Moderate Moderate Weak Weak Moderate Moderate
RAB7A
(HGNC:9788)
 Strong Strong Moderate Moderate Strong Strong
QARS1
(HGNC:9751)
 Moderate Strong Moderate Strong Strong Strong
PYCR1
(HGNC:9721)
 Strong Strong Moderate Strong Strong Strong
PEX2
(HGNC:9717)
 Moderate Moderate Moderate Moderate Moderate Moderate
BBS5
(HGNC:970)
 Strong Strong Moderate Strong Strong Strong
PURA
(HGNC:9701)
 Strong Strong Moderate Strong Strong Strong
CAVIN1
(HGNC:9688)
 Strong Strong Moderate Strong Strong Strong
PTPRQ
(HGNC:9679)
 Strong Strong Moderate Strong Moderate Strong
PTPRC
(HGNC:9666)
 Moderate Moderate Moderate Moderate Weak Moderate
PTPN1
(HGNC:9642)
 Strong Strong Weak Strong Moderate Strong
PTK2
(HGNC:9611)
 Weak Moderate Weak Moderate Weak Moderate
PTHLH
(HGNC:9607)
 Strong Moderate Moderate Strong Strong Strong
PTH1R
(HGNC:9608)
 Strong Moderate Moderate Strong Moderate Strong
PTH
(HGNC:9606)
 Strong Strong Strong Moderate Strong Strong
PTGDS
(HGNC:9592)
 Moderate Strong Moderate Strong Strong Strong
PTDSS1
(HGNC:9587)
 Moderate Moderate Weak Strong Strong Moderate
Showing 681–700 of 2035