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
SLC4A11
(HGNC:16438)
corneal dystrophy-perceptive deafness syndrome
(MONDO_0009015)
 Strong
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)
 Disputed
EFHC1
(HGNC:16406)
epilepsy
(MONDO_0005027)
 Limited
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)
 Moderate
TRIM32
(HGNC:16380)
Bardet-Biedl syndrome
(MONDO_0015229)
 Limited
TRIM32
(HGNC:16380)
autosomal recessive limb-girdle muscular dystrophy
(MONDO_0015152)
 Strong
TRIM32
(HGNC:16380)
Bardet-Biedl syndrome 11
(MONDO_0014439)
 Limited
TRIM22
(HGNC:16379)
inflammatory bowel disease
(MONDO_0005265)
 Limited
PARK7
(HGNC:16369)
young-onset Parkinson disease
(MONDO_0017279)
 Strong
WHRN
(HGNC:16361)
Usher syndrome type 2
(MONDO_0016484)
 Moderate
USH1G
(HGNC:16356)
Usher syndrome type 1G
(MONDO_0011748)
 Moderate
USH1G
(HGNC:16356)
Usher syndrome type 1
(MONDO_0010168)
 Moderate
Showing 3241–3260 of 6699