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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
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)
|
Definitive
|
|
|
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)
|
Moderate
|
|
|
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
|
|
|
PQBP1
(HGNC:9330)
|
Renpenning syndrome
(MONDO_0010653)
|
Definitive
|
|
|
PRKAB2
(HGNC:9379)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Disputed
|
|