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Gene–disease association summaries
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
|
|