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
SFTPA1
(HGNC:10798)
 Moderate Strong Moderate Moderate Strong Moderate
SF3B4
(HGNC:10771)
 Strong Moderate Moderate Moderate Strong Strong
SGCD
(HGNC:10807)
 Moderate Strong Moderate Moderate Strong Strong
BMPR1B
(HGNC:1077)
 Moderate Moderate Moderate Strong Moderate Strong
SEC23B
(HGNC:10702)
 Moderate Moderate Weak Moderate Moderate Moderate
SEMA3A
(HGNC:10723)
 Moderate Moderate Weak Moderate Moderate Moderate
SEC24D
(HGNC:10706)
 Moderate Strong Moderate Strong Strong Strong
BMP15
(HGNC:1068)
 Moderate Moderate Moderate Strong Weak Strong
BMP1
(HGNC:1067)
 Moderate Strong Moderate Strong Strong Strong
CWC27
(HGNC:10664)
 Strong Strong Moderate Moderate Strong Strong
SDCCAG8
(HGNC:10671)
 Moderate Moderate Moderate Weak Strong Strong
CNNM4
(HGNC:105)
 Strong Strong Moderate Strong Strong Strong
SCO2
(HGNC:10604)
 Strong Moderate Moderate Strong Moderate Moderate
SCN11A
(HGNC:10583)
 Moderate Moderate Moderate Strong Moderate Moderate
SCNN1A
(HGNC:10599)
 Strong Strong Moderate Strong Strong Strong
RPS7
(HGNC:10440)
 Strong Strong Moderate Weak Strong Strong
RPS6KA3
(HGNC:10432)
 Strong Strong Moderate Strong Strong Strong
SBF1
(HGNC:10542)
 Moderate Strong Moderate Strong Moderate Moderate
SCN3A
(HGNC:10590)
 Moderate Moderate Weak Weak Moderate Moderate
ROBO1
(HGNC:10249)
 Moderate Moderate Moderate Moderate Weak Moderate
Showing 2001–2020 of 2035