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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
PDE3A
(HGNC:8778)
 Strong Strong Strong Moderate Strong Strong
PDE11A
(HGNC:8773)
 Moderate Weak Moderate Strong Strong Strong
AIFM1
(HGNC:8768)
 Moderate Moderate Strong Strong Strong Moderate
PDCD10
(HGNC:8761)
 Weak Moderate Moderate Strong Strong Strong
ATP6AP1
(HGNC:868)
 Weak Moderate Moderate Weak Strong Strong
ATP6V0A4
(HGNC:866)
 Moderate Weak Moderate Strong Moderate Strong
PBX1
(HGNC:8632)
 Moderate Weak Moderate Strong Strong Strong
PAX1
(HGNC:8615)
 Weak Weak Strong Strong Weak Strong
PARN
(HGNC:8609)
 Moderate Weak Moderate Strong Weak Strong
PAPSS2
(HGNC:8604)
 Moderate Weak Moderate Strong Strong Strong
PAK2
(HGNC:8591)
 Moderate Weak Strong Moderate Strong Moderate
PAK1
(HGNC:8590)
 Weak Moderate Strong Moderate Strong Moderate
ATP6V1E1
(HGNC:857)
 Weak Weak Moderate Weak Strong Moderate
PABPN1
(HGNC:8565)
 Moderate Strong Moderate Strong Moderate Strong
ATP6V1B2
(HGNC:854)
 Moderate Weak Strong Strong Strong Strong
OXCT1
(HGNC:8527)
 Weak Moderate Strong Strong Strong Strong
ATP4A
(HGNC:819)
 Weak Moderate Weak Moderate Weak Strong
ATP2B3
(HGNC:816)
 Weak Weak Weak Moderate Weak Moderate
SIGMAR1
(HGNC:8157)
 Weak Weak Moderate Strong Moderate Moderate
OPHN1
(HGNC:8148)
 Weak Moderate Strong Strong Strong Strong
Showing 101–120 of 1365