|
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
|
|