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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
SUFU
(HGNC:16466)
Joubert syndrome
(MONDO_0018772)
 Moderate
SUFU
(HGNC:16466)
medulloblastoma
(MONDO_0007959)
 Definitive
SLC4A11
(HGNC:16438)
corneal dystrophy-perceptive deafness syndrome
(MONDO_0009015)
 Definitive
SLC4A11
(HGNC:16438)
congenital hereditary endothelial dystrophy of cornea
(MONDO_0009019)
 Definitive
SLC4A11
(HGNC:16438)
Fuchs' endothelial dystrophy
(MONDO_0005321)
 Moderate
EFHC1
(HGNC:16406)
juvenile myoclonic epilepsy
(MONDO_0009696)
 Moderate
EFHC1
(HGNC:16406)
epilepsy
(MONDO_0005027)
 Moderate
NLRP3
(HGNC:16400)
familial cold autoinflammatory syndrome
(MONDO_0018768)
 Definitive
NLRP3
(HGNC:16400)
cryopyrin-associated periodic syndrome
(MONDO_0016168)
 Definitive
NLRP3
(HGNC:16400)
CINCA syndrome
(MONDO_0011776)
 Definitive
NLRP3
(HGNC:16400)
Muckle-Wells syndrome
(MONDO_0008633)
 Definitive
NLRP3
(HGNC:16400)
keratitis fugax hereditaria
(MONDO_0007849)
 Limited
CARD11
(HGNC:16393)
BENTA disease
(MONDO_0014645)
 Strong
CARD11
(HGNC:16393)
immunodeficiency 11b with atopic dermatitis
(MONDO_0054697)
 Limited
TRIM32
(HGNC:16380)
Bardet-Biedl syndrome
(MONDO_0015229)
 Limited
TRIM32
(HGNC:16380)
autosomal recessive limb-girdle muscular dystrophy
(MONDO_0015152)
 Moderate
TRIM32
(HGNC:16380)
Bardet-Biedl syndrome 11
(MONDO_0014439)
 Limited
TRIM22
(HGNC:16379)
inflammatory bowel disease
(MONDO_0005265)
 Moderate
PARK7
(HGNC:16369)
young-onset Parkinson disease
(MONDO_0017279)
 Strong
WHRN
(HGNC:16361)
Usher syndrome type 2
(MONDO_0016484)
 Limited
Showing 3221–3240 of 6681