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

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Stats

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

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Gene Disease Score Actions
SLC6A19
(HGNC:27960)
Hartnup disease
(MONDO_0009324)
 Definitive
DFFB
(HGNC:2773)
polycystic ovary syndrome
(MONDO_0008487)
 Limited
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)
 Moderate
DDX11
(HGNC:2736)
Warsaw breakage syndrome
(MONDO_0013252)
 Definitive
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)
 Disputed
IDO2
(HGNC:27269)
sarcoidosis
(MONDO_0019338)
 Limited
ZNF827
(HGNC:27193)
Sotos syndrome
(MONDO_0019349)
 Disputed
ZNF827
(HGNC:27193)
Hirschsprung disease
(MONDO_0018309)
 Disputed
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
Showing 5721–5740 of 6681