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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
THOC2
(HGNC:19073)
X-linked intellectual disability-short stature-overweight syndrome
(MONDO_0010496)
 Moderate
GBA2
(HGNC:18986)
hereditary spastic paraplegia 46
(MONDO_0013737)
 Strong
DCXR
(HGNC:18985)
pentosuria
(MONDO_0009846)
 Strong
MAST1
(HGNC:19034)
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
(MONDO_0032648)
 Limited
AP1S3
(HGNC:18971)
psoriasis 14, pustular
(MONDO_0013626)
 Limited
AP1S3
(HGNC:18971)
pustulosis palmaris et plantaris
(MONDO_0015597)
 Moderate
TDP1
(HGNC:18884)
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
(MONDO_0011801)
 Strong
IFIH1
(HGNC:18873)
Aicardi-Goutieres syndrome 7
(MONDO_0014367)
 Strong
IFIH1
(HGNC:18873)
Singleton-Merten syndrome 1
(MONDO_0024535)
 Strong
IFIH1
(HGNC:18873)
Aicardi-Goutieres syndrome
(MONDO_0018866)
 Definitive
IFIH1
(HGNC:18873)
Singleton-Merten dysplasia
(MONDO_0008429)
 Strong
MMAA
(HGNC:18871)
methylmalonic aciduria, cblA type
(MONDO_0009613)
 Strong
KCNT1
(HGNC:18865)
autosomal dominant nocturnal frontal lobe epilepsy
(MONDO_0020300)
 Strong
CREB3L3
(HGNC:18855)
hypertriglyceridemia
(MONDO_0005347)
 Moderate
KCNT1
(HGNC:18865)
malignant migrating partial seizures of infancy
(MONDO_0017385)
 Strong
CFTR
(HGNC:1884)
congenital bilateral absence of vas deferens
(MONDO_0018801)
 Definitive
CFTR
(HGNC:1884)
cystic fibrosis
(MONDO_0009061)
 Definitive
LDLRAP1
(HGNC:18640)
homozygous familial hypercholesterolemia
(MONDO_0018328)
 Definitive
COG8
(HGNC:18623)
COG8-congenital disorder of glycosylation
(MONDO_0012635)
 Limited
CDK5RAP2
(HGNC:18672)
corpus callosum, agenesis of
(MONDO_0009022)
 Limited
Showing 2901–2920 of 6681