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
SQSTM1
(HGNC:11280)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Moderate
SPTLC2
(HGNC:11278)
hereditary sensory and autonomic neuropathy type 1
(MONDO_0018213)
 Strong
SPTLC2
(HGNC:11278)
neuropathy, hereditary sensory and autonomic, type 1C
(MONDO_0013337)
 Strong
SPTAN1
(HGNC:11273)
developmental and epileptic encephalopathy
(MONDO_0100062)
 Strong
SPTAN1
(HGNC:11273)
West syndrome
(MONDO_0018097)
 Moderate
SPP1
(HGNC:11255)
systemic lupus erythematosus
(MONDO_0007915)
 Limited
SPINT2
(HGNC:11247)
syndromic congenital sodium diarrhea
(MONDO_0034204)
 Strong
SPINK1
(HGNC:11244)
hereditary chronic pancreatitis
(MONDO_0008185)
 Moderate
SPINK1
(HGNC:11244)
tropical pancreatitis
(MONDO_0011986)
 Strong
SPG7
(HGNC:11237)
hereditary spastic paraplegia 7
(MONDO_0011803)
 Definitive
SOX10
(HGNC:11190)
Waardenburg syndrome type 2
(MONDO_0019517)
 Strong
SPG7
(HGNC:11237)
lateral sclerosis
(MONDO_0018155)
 Moderate
SMPD1
(HGNC:11120)
Niemann-Pick disease type B
(MONDO_0011871)
 Definitive
SOX10
(HGNC:11190)
Kallmann syndrome
(MONDO_0018800)
 Moderate
ATL1
(HGNC:11231)
hereditary sensory and autonomic neuropathy type 1
(MONDO_0018213)
 Moderate
SPG11
(HGNC:11226)
juvenile amyotrophic lateral sclerosis
(MONDO_0017593)
 Moderate
SOX10
(HGNC:11190)
deaf blind hypopigmentation syndrome, Yemenite type
(MONDO_0011133)
 Limited
SPARC
(HGNC:11219)
osteogenesis imperfecta type 4
(MONDO_0008148)
 Limited
SMPD1
(HGNC:11120)
Niemann-Pick disease
(MONDO_0001982)
 Definitive
SPAG1
(HGNC:11212)
primary ciliary dyskinesia
(MONDO_0016575)
 Strong
Showing 4001–4020 of 6699