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Over 2,000 gene–disease validation summaries are now available—no login required!

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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
DCTN1
(HGNC:2711)
neuronopathy, distal hereditary motor, type 7B
(MONDO_0011879)
 Limited
DCTN1
(HGNC:2711)
Perry syndrome
(MONDO_0008201)
 Definitive
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)
 Definitive
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)
 Disputed
DCC
(HGNC:2701)
familial congenital mirror movements
(MONDO_0016558)
 Moderate
DCC
(HGNC:2701)
Kallmann syndrome
(MONDO_0018800)
 Moderate
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)
 Strong
FOXRED1
(HGNC:26927)
mitochondrial disease
(MONDO_0044970)
 Moderate
FOXRED1
(HGNC:26927)
Leigh syndrome
(MONDO_0009723)
 Moderate
Showing 2181–2200 of 6681