|
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
|
|