Proband Tables

Summaries focusing on proband-level evidence; browse by gene.

Back to Open Access Summaries
Need updated, customized, evidence‑backed summaries? Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
Contact us

Gene Allelic Consistency Phenotypic Consistency Penetrance Ethnic Diversity Inheritance Consistency Mechanism of disease Actions
TRPV6
(HGNC:14006)
 Moderate Moderate Moderate Strong Moderate Strong
SLC5A7
(HGNC:14025)
 Moderate Moderate Moderate Moderate Moderate Strong
MPIG6B
(HGNC:13937)
 Strong Strong Moderate Strong Strong Strong
PRDM16
(HGNC:14000)
 Moderate Moderate Weak Moderate Strong Moderate
CABP4
(HGNC:1386)
 Moderate Moderate Moderate Strong Moderate Moderate
SLC12A5
(HGNC:13818)
 Strong Moderate Moderate Weak Moderate Strong
ITCH
(HGNC:13890)
 Strong Strong Moderate Strong Strong Strong
GFM1
(HGNC:13780)
 Strong Strong Moderate Strong Strong Strong
ASPSCR1
(HGNC:13825)
 Weak Weak Weak Weak Weak Weak
CA8
(HGNC:1382)
 Strong Strong Moderate Moderate Strong Strong
NEUROG3
(HGNC:13806)
 Strong Strong Moderate Moderate Strong Strong
CYFIP1
(HGNC:13759)
 Moderate Moderate Weak Moderate Weak Moderate
ALOXE3
(HGNC:13743)
 Moderate Strong Moderate Moderate Strong Moderate
SOST
(HGNC:13771)
 Strong Strong Moderate Strong Moderate Strong
KLF13
(HGNC:13672)
 Moderate Moderate Moderate Weak Moderate Moderate
CA2
(HGNC:1373)
 Strong Strong Moderate Strong Strong Strong
CTCF
(HGNC:13723)
 Moderate Strong Weak Weak Strong Moderate
FBXL4
(HGNC:13601)
 Strong Strong Moderate Strong Strong Strong
ZBTB20
(HGNC:13503)
 Strong Strong Moderate Moderate Strong Moderate
BRD4
(HGNC:13575)
 Weak Weak Moderate Weak Moderate Moderate
Showing 1801–1820 of 2035