Stats
Gene–disease association summaries
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
|
|