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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
NUP88
(HGNC:8067)
|
fetal akinesia deformation sequence 1
(MONDO_0100101)
|
Moderate
|
|
|
NTHL1
(HGNC:8028)
|
breast cancer
(MONDO_0007254)
|
Moderate
|
|
|
NTRK1
(HGNC:8031)
|
hereditary sensory and autonomic neuropathy type 4
(MONDO_0009746)
|
Definitive
|
|
|
NTN1
(HGNC:8029)
|
familial congenital mirror movements
(MONDO_0016558)
|
Moderate
|
|
|
NT5C2
(HGNC:8022)
|
hereditary spastic paraplegia 45
(MONDO_0013165)
|
Moderate
|
|
|
ATP1A3
(HGNC:801)
|
alternating hemiplegia of childhood
(MONDO_0016241)
|
Definitive
|
|
|
ATP1A3
(HGNC:801)
|
alternating hemiplegia of childhood 2
(MONDO_0013900)
|
Definitive
|
|
|
NT5E
(HGNC:8021)
|
hereditary arterial and articular multiple calcification syndrome
(MONDO_0008895)
|
Definitive
|
|
|
CNTNAP1
(HGNC:8011)
|
lethal congenital contracture syndrome 7
(MONDO_0014569)
|
Strong
|
|
|
ATP1A3
(HGNC:801)
|
cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
(MONDO_0011038)
|
Definitive
|
|
|
ATP1A3
(HGNC:801)
|
dystonia 12
(MONDO_0007496)
|
Definitive
|
|
|
NRXN3
(HGNC:8010)
|
autism
(MONDO_0005260)
|
Limited
|
|
|
ATP1A2
(HGNC:800)
|
alternating hemiplegia of childhood
(MONDO_0016241)
|
Moderate
|
|
|
ATP1A2
(HGNC:800)
|
migraine, familial hemiplegic, 2
(MONDO_0011232)
|
Definitive
|
|
|
NRXN2
(HGNC:8009)
|
autism
(MONDO_0005260)
|
Limited
|
|
|
ATP1A2
(HGNC:800)
|
alternating hemiplegia of childhood 1
(MONDO_0007087)
|
Moderate
|
|
|
NRXN1
(HGNC:8008)
|
Pitt-Hopkins-like syndrome 2
(MONDO_0013690)
|
Moderate
|
|
|
NRXN1
(HGNC:8008)
|
autism
(MONDO_0005260)
|
Strong
|
|
|
NRL
(HGNC:8002)
|
retinitis pigmentosa
(MONDO_0019200)
|
Definitive
|
|
|
NRL
(HGNC:8002)
|
enhanced S-cone syndrome
(MONDO_0100288)
|
Moderate
|
|