Stats
Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
TBXT
(HGNC:11515)
|
chordoma
(MONDO_0008978)
|
Strong
|
|
|
SYT1
(HGNC:11509)
|
infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
(MONDO_0033864)
|
Strong
|
|
|
SYNJ1
(HGNC:11503)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Strong
|
|
|
SYNJ1
(HGNC:11503)
|
young-onset Parkinson disease
(MONDO_0017279)
|
Strong
|
|
|
BUB1B
(HGNC:1149)
|
mosaic variegated aneuploidy syndrome 1
(MONDO_0009759)
|
Strong
|
|
|
BUB1B
(HGNC:1149)
|
rhabdomyosarcoma
(MONDO_0005212)
|
Limited
|
|
|
BUB1B
(HGNC:1149)
|
mosaic variegated aneuploidy syndrome
(MONDO_0000141)
|
Strong
|
|
|
SYNGR1
(HGNC:11498)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
SYNGR1
(HGNC:11498)
|
bipolar disorder
(MONDO_0004985)
|
Limited
|
|
|
SYNGAP1
(HGNC:11497)
|
intellectual disability, autosomal dominant 5
(MONDO_0012960)
|
Strong
|
|
|
SYNGAP1
(HGNC:11497)
|
SYNGAP1-related developmental and epileptic encephalopathy
(MONDO_0034099)
|
Strong
|
|
|
SYNGAP1
(HGNC:11497)
|
myoclonic-astatic epilepsy
(MONDO_0016025)
|
Moderate
|
|
|
SUCLG1
(HGNC:11449)
|
mitochondrial DNA depletion syndrome 9
(MONDO_0009504)
|
Strong
|
|
|
BUB1
(HGNC:1148)
|
colorectal cancer
(MONDO_0005575)
|
Disputed
|
|
|
SUCLG1
(HGNC:11449)
|
Leigh syndrome
(MONDO_0009723)
|
Moderate
|
|
|
SUCLA2
(HGNC:11448)
|
Leigh syndrome
(MONDO_0009723)
|
Moderate
|
|
|
SUCLA2
(HGNC:11448)
|
mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
(MONDO_0012791)
|
Strong
|
|
|
STXBP2
(HGNC:11445)
|
familial hemophagocytic lymphohistiocytosis 5
(MONDO_0013135)
|
Definitive
|
|
|
STXBP2
(HGNC:11445)
|
microvillus inclusion disease
(MONDO_0009635)
|
Limited
|
|
|
STXBP1
(HGNC:11444)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Definitive
|
|