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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
DCTN1
(HGNC:2711)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
DCT
(HGNC:2709)
|
oculocutaneous albinism type 8
(MONDO_0030899)
|
Moderate
|
|
|
CARMIL2
(HGNC:27089)
|
severe combined immunodeficiency due to CARMIL2 deficiency
(MONDO_0029134)
|
Strong
|
|
|
DCN
(HGNC:2705)
|
congenital stromal corneal dystrophy
(MONDO_0012401)
|
Strong
|
|
|
DNAJC21
(HGNC:27030)
|
bone marrow failure syndrome 3
(MONDO_0014887)
|
Moderate
|
|
|
DNAJC21
(HGNC:27030)
|
Shwachman-Diamond syndrome
(MONDO_0009833)
|
Moderate
|
|
|
C5orf47
(HGNC:27026)
|
neuromyelitis optica
(MONDO_0019100)
|
Limited
|
|
|
DCC
(HGNC:2701)
|
familial congenital mirror movements
(MONDO_0016558)
|
Strong
|
|
|
DCC
(HGNC:2701)
|
Kallmann syndrome
(MONDO_0018800)
|
Limited
|
|
|
DCC
(HGNC:2701)
|
colorectal cancer
(MONDO_0005575)
|
Limited
|
|
|
METTL23
(HGNC:26988)
|
intellectual disability, autosomal recessive 44
(MONDO_0014409)
|
Moderate
|
|
|
DCC
(HGNC:2701)
|
esophageal cancer
(MONDO_0007576)
|
Limited
|
|
|
PDZD8
(HGNC:26974)
|
intellectual developmental disorder with autism and dysmorphic facies
(MONDO_0859281)
|
Moderate
|
|
|
BLTP1
(HGNC:26953)
|
Alkuraya-Kucinskas syndrome
(MONDO_0060631)
|
Moderate
|
|
|
HIKESHI
(HGNC:26938)
|
hypomyelinating leukodystrophy 13
(MONDO_0014813)
|
Limited
|
|
|
CDIN1
(HGNC:26929)
|
congenital dyserythropoietic anemia type 1
(MONDO_0020337)
|
Moderate
|
|
|
FOXRED1
(HGNC:26927)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
FOXRED1
(HGNC:26927)
|
Leigh syndrome
(MONDO_0009723)
|
Moderate
|
|
|
DBH
(HGNC:2689)
|
orthostatic hypotension 1
(MONDO_0009123)
|
Moderate
|
|
|
TMTC3
(HGNC:26899)
|
periventricular nodular heterotopia
(MONDO_0020341)
|
Moderate
|
|