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
DNMT3A
(HGNC:2978)
Tatton-Brown-Rahman overgrowth syndrome
(MONDO_0014382)
 Definitive
DNM2
(HGNC:2974)
Charcot-Marie-Tooth disease
(MONDO_0015626)
 Strong
DNMT3A
(HGNC:2978)
Heyn-Sproul-Jackson syndrome
(MONDO_0032882)
 Moderate
DNM1L
(HGNC:2973)
autosomal dominant optic atrophy, classic form
(MONDO_0008134)
 Moderate
DNMT1
(HGNC:2976)
hereditary sensory neuropathy-deafness-dementia syndrome
(MONDO_0013584)
 Strong
DNM2
(HGNC:2974)
Charcot-Marie-Tooth disease dominant intermediate B
(MONDO_0011674)
 Limited
DNM2
(HGNC:2974)
fetal akinesia-cerebral and retinal hemorrhage syndrome
(MONDO_0014149)
 Limited
DNM1L
(HGNC:2973)
encephalopathy due to mitochondrial and peroxisomal fission defect
(MONDO_0054865)
 Strong
IARS2
(HGNC:29685)
cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
(MONDO_0014455)
 Moderate
DNM1
(HGNC:2972)
developmental and epileptic encephalopathy
(MONDO_0100062)
 Strong
DNM1
(HGNC:2972)
Lennox-Gastaut syndrome
(MONDO_0016532)
 Moderate
IARS2
(HGNC:29685)
Leigh syndrome
(MONDO_0009723)
 Moderate
MSTO1
(HGNC:29678)
mitochondrial disease
(MONDO_0044970)
 Strong
GNPTAB
(HGNC:29670)
mucolipidosis
(MONDO_0019248)
 Definitive
GNPTAB
(HGNC:29670)
mucolipidosis type III, alpha/beta
(MONDO_0018931)
 Definitive
IFT43
(HGNC:29669)
cranioectodermal dysplasia
(MONDO_0009032)
 Moderate
KIDINS220
(HGNC:29508)
spastic paraplegia, intellectual disability, nystagmus, and obesity
(MONDO_0015007)
 Strong
PJVK
(HGNC:29502)
autosomal recessive nonsyndromic hearing loss 59
(MONDO_0012445)
 Moderate
DYNC2H1
(HGNC:2962)
Jeune syndrome
(MONDO_0018770)
 Strong
ROGDI
(HGNC:29478)
amelocerebrohypohidrotic syndrome
(MONDO_0009185)
 Strong
Showing 2001–2020 of 6699