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Gene–disease association summaries
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
|
|