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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
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DEFA6
(HGNC:2765)
Crohn disease
(MONDO_0005011)
Limited
EMC10
(HGNC:27609)
intellectual disability
(MONDO_0001071)
Moderate
DEFA5
(HGNC:2764)
Crohn disease
(MONDO_0005011)
Limited
TSEN54
(HGNC:27561)
pontocerebellar hypoplasia
(MONDO_0020135)
Strong
DHX15
(HGNC:2738)
acute myeloid leukemia
(MONDO_0018874)
Limited
DDX11
(HGNC:2736)
Warsaw breakage syndrome
(MONDO_0013252)
Strong
PDILT
(HGNC:27338)
nephrolithiasis
(MONDO_0008171)
Limited
DDT
(HGNC:2732)
velocardiofacial syndrome
(MONDO_0008644)
Limited
CRTC2
(HGNC:27301)
lung cancer
(MONDO_0008903)
Limited
CRTC2
(HGNC:27301)
non-small cell lung carcinoma
(MONDO_0005233)
Limited
MPZL3
(HGNC:27279)
lung cancer
(MONDO_0008903)
Limited
ZCCHC12
(HGNC:27273)
intellectual disability
(MONDO_0001071)
Limited
IDO2
(HGNC:27269)
sarcoidosis
(MONDO_0019338)
Limited
ZNF827
(HGNC:27193)
Sotos syndrome
(MONDO_0019349)
Disputed
ZNF827
(HGNC:27193)
Hirschsprung disease
(MONDO_0018309)
Limited
CMPK2
(HGNC:27015)
basal ganglia calcification, idiopathic, 1
(MONDO_0024538)
Limited
ZNF816
(HGNC:26995)
psoriasis
(MONDO_0005083)
Limited
SPNS2
(HGNC:26992)
hearing loss disorder
(MONDO_0005365)
Limited
C10orf71
(HGNC:26973)
dilated cardiomyopathy
(MONDO_0005021)
Moderate
GPCPD1
(HGNC:26957)
2q37 microdeletion syndrome
(MONDO_0010886)
Refuted
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