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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
CHRNG
(HGNC:1967)
autosomal recessive multiple pterygium syndrome
(MONDO_0009926)
 Strong
CHRND
(HGNC:1965)
lethal multiple pterygium syndrome
(MONDO_0009668)
 Moderate
CHRNE
(HGNC:1966)
congenital myasthenic syndrome 4C
(MONDO_0012157)
 Strong
CHRNG
(HGNC:1967)
lethal multiple pterygium syndrome
(MONDO_0009668)
 Strong
CHRNB2
(HGNC:1962)
sleep-related hypermotor epilepsy
(MONDO_0000030)
 Strong
SCAF4
(HGNC:19304)
Fliedner-Zweier syndrome
(MONDO_0957787)
 Moderate
CHRNA7
(HGNC:1960)
complex neurodevelopmental disorder
(MONDO_0100038)
 Limited
CHRNB4
(HGNC:1964)
lung cancer
(MONDO_0008903)
 Moderate
CHRNA7
(HGNC:1960)
epilepsy
(MONDO_0005027)
 Limited
CHRNA4
(HGNC:1958)
autosomal dominant nocturnal frontal lobe epilepsy
(MONDO_0020300)
 Strong
ADAM17
(HGNC:195)
inflammatory skin and bowel disease, neonatal, 1
(MONDO_0013693)
 Strong
HYDIN
(HGNC:19368)
primary ciliary dyskinesia
(MONDO_0016575)
 Definitive
ADAM17
(HGNC:195)
congenital heart disease
(MONDO_0005453)
 Limited
CHRNA2
(HGNC:1956)
autosomal dominant nocturnal frontal lobe epilepsy
(MONDO_0020300)
 Moderate
CHRNA4
(HGNC:1958)
sleep-related hypermotor epilepsy
(MONDO_0000030)
 Strong
CHRNA2
(HGNC:1956)
benign familial infantile epilepsy
(MONDO_0017615)
 Limited
CHRNA1
(HGNC:1955)
lethal multiple pterygium syndrome
(MONDO_0009668)
 Moderate
ADA
(HGNC:186)
Omenn syndrome
(MONDO_0011338)
 Limited
SBDS
(HGNC:19440)
Shwachman-Diamond syndrome
(MONDO_0009833)
 Definitive
CHRNA1
(HGNC:1955)
postsynaptic congenital myasthenic syndrome
(MONDO_0020344)
 Moderate
Showing 2841–2860 of 6681