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
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)
 Strong
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)
 Strong
AQP2
(HGNC:634)
nephrogenic diabetes insipidus
(MONDO_0016383)
 Definitive
KIF5A
(HGNC:6323)
hereditary spastic paraplegia 10
(MONDO_0011408)
 Strong
KIF5A
(HGNC:6323)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Strong
KCNQ3
(HGNC:6297)
benign neonatal seizures
(MONDO_0016027)
 Strong
Showing 4541–4560 of 6699