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
EEF2
(HGNC:3214)
spinocerebellar ataxia type 26
(MONDO_0012246)
 Limited
ACAN
(HGNC:319)
osteochondritis dissecans
(MONDO_0017178)
 Moderate
ACAN
(HGNC:319)
spondyloepimetaphyseal dysplasia, aggrecan type
(MONDO_0013014)
 Moderate
ACAN
(HGNC:319)
spondyloepiphyseal dysplasia, Kimberley type
(MONDO_0012019)
 Moderate
CEACAM16
(HGNC:31948)
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
 Moderate
LCA5
(HGNC:31923)
Leber congenital amaurosis
(MONDO_0018998)
 Strong
LCA5
(HGNC:31923)
severe early-childhood-onset retinal dystrophy
(MONDO_0009549)
 Strong
EED
(HGNC:3188)
Cohen-Gibson syndrome
(MONDO_0060510)
 Strong
EED
(HGNC:3188)
Weaver syndrome
(MONDO_0010193)
 Strong
EDNRB
(HGNC:3180)
ABCD syndrome
(MONDO_0010895)
 Limited
EDNRA
(HGNC:3179)
mandibulofacial dysostosis with alopecia
(MONDO_0014608)
 Strong
EDNRA
(HGNC:3179)
cystic fibrosis
(MONDO_0009061)
 Limited
EDN3
(HGNC:3178)
Waardenburg syndrome
(MONDO_0018094)
 Limited
SAMD12
(HGNC:31750)
benign adult familial myoclonic epilepsy
(MONDO_0019448)
 Strong
EDN1
(HGNC:3176)
auriculocondylar syndrome
(MONDO_0000107)
 Moderate
AFG3L2
(HGNC:315)
spastic ataxia 5
(MONDO_0013776)
 Strong
SAMD12
(HGNC:31750)
epilepsy, familial adult myoclonic, 1
(MONDO_0010985)
 Limited
AFG3L2
(HGNC:315)
spinocerebellar ataxia type 28
(MONDO_0012450)
 Strong
ECHS1
(HGNC:3151)
mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
(MONDO_0014563)
 Definitive
EDA
(HGNC:3157)
tooth agenesis
(MONDO_0005486)
 Strong
Showing 1861–1880 of 6699