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Stats
Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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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
Showing 5201–5220 of 6699
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