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
BBS1
(HGNC:966)
Bardet-Biedl syndrome
(MONDO_0015229)
 Definitive
PSEN2
(HGNC:9509)
familial Alzheimer disease
(MONDO_0100087)
 Strong
PSEN2
(HGNC:9509)
Alzheimer disease
(MONDO_0004975)
 Strong
LONP1
(HGNC:9479)
diffuse large B-cell lymphoma
(MONDO_0018905)
 Disputed
HTRA1
(HGNC:9476)
CARASIL syndrome
(MONDO_0010829)
 Definitive
PRPS1
(HGNC:9462)
Charcot-Marie-Tooth disease X-linked recessive 5
(MONDO_0010699)
 Strong
PRPS1
(HGNC:9462)
Arts syndrome
(MONDO_0010533)
 Strong
PROP1
(HGNC:9455)
panhypopituitarism
(MONDO_0019591)
 Definitive
PRKCG
(HGNC:9402)
spinocerebellar ataxia type 14
(MONDO_0011540)
 Strong
ACAT1
(HGNC:93)
beta-ketothiolase deficiency
(MONDO_0008760)
 Definitive
BAG3
(HGNC:939)
myofibrillar myopathy
(MONDO_0018943)
 Definitive
BAG3
(HGNC:939)
dilated cardiomyopathy
(MONDO_0005021)
 Definitive
PRKACA
(HGNC:9380)
Cushing syndrome
(MONDO_0018912)
 Definitive
PPT1
(HGNC:9325)
infantile neuronal ceroid lipofuscinosis
(MONDO_0019261)
 Definitive
PPT1
(HGNC:9325)
neuronal ceroid lipofuscinosis
(MONDO_0016295)
 Definitive
ACADVL
(HGNC:92)
very long chain acyl-CoA dehydrogenase deficiency
(MONDO_0008723)
 Definitive
CTSA
(HGNC:9251)
galactosialidosis
(MONDO_0009737)
 Definitive
PPT1
(HGNC:9325)
neuronal ceroid lipofuscinosis 1
(MONDO_0009744)
 Definitive
POU1F1
(HGNC:9210)
panhypopituitarism
(MONDO_0019591)
 Definitive
POLH
(HGNC:9181)
xeroderma pigmentosum
(MONDO_0019600)
 Definitive
Showing 4381–4400 of 6699