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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
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Gene–Disease Browser

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Gene Disease Score Actions
LGI1
(HGNC:6572)
autosomal dominant epilepsy with auditory features
(MONDO_0010898)
 Definitive
LIPA
(HGNC:6617)
lysosomal acid lipase deficiency
(MONDO_0800449)
 Definitive
LAMB3
(HGNC:6490)
junctional epidermolysis bullosa
(MONDO_0017612)
 Definitive
LAMP2
(HGNC:6501)
Danon disease
(MONDO_0010281)
 Definitive
LAMA1
(HGNC:6481)
ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
(MONDO_0014419)
 Definitive
LAMB3
(HGNC:6490)
epidermolysis bullosa
(MONDO_0006541)
 Definitive
LAMB2
(HGNC:6487)
Pierson syndrome
(MONDO_0012184)
 Definitive
LAMB2
(HGNC:6487)
familial nephrotic syndrome
(MONDO_0002350)
 Strong
LAMA3
(HGNC:6483)
junctional epidermolysis bullosa
(MONDO_0017612)
 Definitive
KRT9
(HGNC:6447)
palmoplantar keratoderma, epidermolytic
(MONDO_0968949)
 Definitive
KRT6A
(HGNC:6443)
pachyonychia congenita
(MONDO_0016471)
 Definitive
KRT5
(HGNC:6442)
epidermolysis bullosa simplex
(MONDO_0017610)
 Definitive
KRT16
(HGNC:6423)
pachyonychia congenita
(MONDO_0016471)
 Definitive
KRT17
(HGNC:6427)
pachyonychia congenita
(MONDO_0016471)
 Definitive
KRT14
(HGNC:6416)
epidermolysis bullosa simplex
(MONDO_0017610)
 Definitive
KRT10
(HGNC:6413)
epidermolytic ichthyosis
(MONDO_0007239)
 Definitive
MAFB
(HGNC:6408)
multicentric carpo-tarsal osteolysis with or without nephropathy
(MONDO_0008152)
 Strong
KIF5A
(HGNC:6323)
hereditary spastic paraplegia
(MONDO_0019064)
 Definitive
AQP2
(HGNC:634)
nephrogenic diabetes insipidus
(MONDO_0016383)
 Definitive
KIF5A
(HGNC:6323)
hereditary spastic paraplegia 10
(MONDO_0011408)
 Definitive
Showing 4521–4540 of 6681