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
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
Showing 3941–3960 of 6699