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Over 2,000 gene–disease validation summaries are now available—no login required!

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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
BARD1
(HGNC:952)
hereditary breast carcinoma
(MONDO_0016419)
 Moderate
PRF1
(HGNC:9360)
familial hemophagocytic lymphohistiocytosis 2
(MONDO_0011337)
 Definitive
PRKAR1A
(HGNC:9388)
Carney complex
(MONDO_0015285)
 Definitive
NKX3-2
(HGNC:951)
spondylo-megaepiphyseal-metaphyseal dysplasia
(MONDO_0013228)
 Limited
PRKAG2
(HGNC:9386)
Wolff-Parkinson-White syndrome
(MONDO_0008685)
 Definitive
BARD1
(HGNC:952)
breast cancer
(MONDO_0007254)
 Moderate
PSEN2
(HGNC:9509)
dilated cardiomyopathy
(MONDO_0005021)
 Limited
LONP1
(HGNC:9479)
CODAS syndrome
(MONDO_0010879)
 Definitive
PSEN1
(HGNC:9508)
Pick disease
(MONDO_0008243)
 Limited
PSEN1
(HGNC:9508)
dilated cardiomyopathy
(MONDO_0005021)
 Limited
HTRA1
(HGNC:9476)
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
(MONDO_0014768)
 Strong
LONP1
(HGNC:9479)
Leigh syndrome
(MONDO_0009723)
 Limited
PRPH
(HGNC:9461)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Limited
LONP1
(HGNC:9479)
congenital diaphragmatic hernia
(MONDO_0005711)
 Moderate
PRSS1
(HGNC:9475)
hereditary chronic pancreatitis
(MONDO_0008185)
 Definitive
PRSS12
(HGNC:9477)
autosomal recessive non-syndromic intellectual disability
(MONDO_0019502)
 Limited
PRPS1
(HGNC:9462)
hearing loss, X-linked 1
(MONDO_0010577)
 Strong
PRKAR1B
(HGNC:9390)
Marbach-Schaaf neurodevelopmental syndrome
(MONDO_0859214)
 Strong
PRPS1
(HGNC:9462)
phosphoribosylpyrophosphate synthetase superactivity
(MONDO_0010395)
 Strong
PRKAG2
(HGNC:9386)
hypertrophic cardiomyopathy
(MONDO_0005045)
 Strong
Showing 241–260 of 6681