Variant Synonymizer: Platform to identify mutations defined in different ways is available now!

VarSy

Over 2,000 gene–disease validation summaries are now available—no login required!

Browse Summaries

Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries

Gene–Disease Browser

Need updated, customized, evidence‑backed summaries? Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
Gene Disease Score Actions
BCR
(HGNC:1014)
chronic myelogenous leukemia, BCR-ABL1 positive
(MONDO_0011996)
Definitive
SCNN1B
(HGNC:10600)
Liddle syndrome
(MONDO_0008323)
Definitive
SCNN1G
(HGNC:10602)
Liddle syndrome
(MONDO_0008323)
Strong
SALL1
(HGNC:10524)
Townes-Brocks syndrome
(MONDO_0007142)
Definitive
SCNN1A
(HGNC:10599)
pseudohypoaldosteronism type 1
(MONDO_0019161)
Strong
RUNX2
(HGNC:10472)
cleidocranial dysplasia 1
(MONDO_0007340)
Definitive
SCNN1A
(HGNC:10599)
Liddle syndrome
(MONDO_0008323)
Moderate
SACS
(HGNC:10519)
Charlevoix-Saguenay spastic ataxia
(MONDO_0010041)
Definitive
RPE65
(HGNC:10294)
Leber congenital amaurosis
(MONDO_0018998)
Definitive
RPGR
(HGNC:10295)
retinitis pigmentosa
(MONDO_0019200)
Definitive
RPGR
(HGNC:10295)
primary ciliary dyskinesia
(MONDO_0016575)
Moderate
RPS19
(HGNC:10402)
Diamond-Blackfan anemia
(MONDO_0015253)
Definitive
RPS6KA3
(HGNC:10432)
Coffin-Lowry syndrome
(MONDO_0010561)
Definitive
ROR2
(HGNC:10257)
Robinow syndrome
(MONDO_0019978)
Definitive
RHO
(HGNC:10012)
retinitis pigmentosa
(MONDO_0019200)
Definitive
BCR
(HGNC:1014)
acute lymphoblastic leukemia
(MONDO_0004967)
Strong
BCR
(HGNC:1014)
acute myeloid leukemia
(MONDO_0018874)
Limited
TMPRSS15
(HGNC:9490)
congenital enteropathy due to enteropeptidase deficiency
(MONDO_0009173)
Moderate
BAG5
(HGNC:941)
dilated cardiomyopathy
(MONDO_0005021)
Strong
BAIAP2
(HGNC:947)
breast cancer
(MONDO_0007254)
Limited
Showing 5181–5200 of 6681