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VarSy

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

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
Showing 541–560 of 6681