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
DICER1
(HGNC:17098)
DICER1-related tumor predisposition
(MONDO_0100216)
 Definitive
DICER1
(HGNC:17098)
pleuropulmonary blastoma
(MONDO_0011014)
 Definitive
LARS2
(HGNC:17095)
Perrault syndrome
(MONDO_0017312)
 Strong
SYNE1
(HGNC:17089)
autosomal recessive ataxia, Beauce type
(MONDO_0012549)
 Strong
ICOSLG
(HGNC:17087)
combined immunodeficiency
(MONDO_0015131)
 Limited
NIPA1
(HGNC:17043)
hereditary spastic paraplegia 6
(MONDO_0010878)
 Strong
MFN2
(HGNC:16877)
multiple symmetric lipomatosis
(MONDO_0007908)
 Moderate
RPH3A
(HGNC:17056)
neurodevelopmental disorder
(MONDO_0700092)
 Limited
EXOSC8
(HGNC:17035)
pontocerebellar hypoplasia type 1
(MONDO_0016396)
 Moderate
RPH3A
(HGNC:17056)
congenital myasthenic syndrome
(MONDO_0018940)
 Limited
HCN4
(HGNC:16882)
familial sick sinus syndrome
(MONDO_0012061)
 Moderate
TNIP1
(HGNC:16903)
systemic lupus erythematosus
(MONDO_0007915)
 Strong
FIG4
(HGNC:16873)
amyotrophic lateral sclerosis type 11
(MONDO_0012945)
 Limited
MFN2
(HGNC:16877)
hereditary motor and sensory neuropathy type 6
(MONDO_0019551)
 Strong
EXOSC8
(HGNC:17035)
pontocerebellar hypoplasia, type 1C
(MONDO_0014485)
 Moderate
FIG4
(HGNC:16873)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Moderate
FIG4
(HGNC:16873)
Charcot-Marie-Tooth disease type 4J
(MONDO_0012640)
 Strong
SART3
(HGNC:16860)
disseminated superficial actinic porokeratosis
(MONDO_0019212)
 Limited
MFN2
(HGNC:16877)
Charcot-Marie-Tooth disease type 2A2
(MONDO_0012231)
 Strong
ASTN2
(HGNC:17021)
autism spectrum disorder
(MONDO_0005258)
 Limited
Showing 3161–3180 of 6699