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
TCIRG1
(HGNC:11647)
autosomal recessive osteopetrosis
(MONDO_0019026)
 Definitive
TCN2
(HGNC:11653)
transcobalamin II deficiency
(MONDO_0010149)
 Strong
TCIRG1
(HGNC:11647)
osteopetrosis
(MONDO_0017198)
 Definitive
TBX3
(HGNC:11602)
ulnar-mammary syndrome
(MONDO_0008411)
 Definitive
TBK1
(HGNC:11584)
frontotemporal dementia
(MONDO_0017276)
 Strong
SPTA1
(HGNC:11272)
hereditary elliptocytosis
(MONDO_0017319)
 Strong
TBK1
(HGNC:11584)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Definitive
SUOX
(HGNC:11460)
isolated sulfite oxidase deficiency
(MONDO_0010089)
 Definitive
SPTA1
(HGNC:11272)
pyropoikilocytosis, hereditary
(MONDO_0009948)
 Strong
SPR
(HGNC:11257)
dopa-responsive dystonia due to sepiapterin reductase deficiency
(MONDO_0012994)
 Strong
TAFAZZIN
(HGNC:11577)
Barth syndrome
(MONDO_0010543)
 Definitive
TACSTD2
(HGNC:11530)
gelatinous drop-like corneal dystrophy
(MONDO_0008777)
 Definitive
SYNGAP1
(HGNC:11497)
autism spectrum disorder
(MONDO_0005258)
 Strong
STXBP2
(HGNC:11445)
hereditary hemophagocytic lymphohistiocytosis
(MONDO_0015541)
 Definitive
STX11
(HGNC:11429)
hereditary hemophagocytic lymphohistiocytosis
(MONDO_0015541)
 Definitive
SPTB
(HGNC:11274)
hereditary elliptocytosis
(MONDO_0017319)
 Strong
SPAST
(HGNC:11233)
hereditary spastic paraplegia
(MONDO_0019064)
 Definitive
CDKL5
(HGNC:11411)
Rett syndrome
(MONDO_0010726)
 Strong
CDKL5
(HGNC:11411)
developmental and epileptic encephalopathy, 2
(MONDO_0010396)
 Definitive
STIM1
(HGNC:11386)
Stormorken syndrome
(MONDO_0008497)
 Definitive
Showing 5121–5140 of 6699