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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
BLOC1S5
(HGNC:18561)
Hermansky-Pudlak syndrome
(MONDO_0019312)
 Moderate
FKBP14
(HGNC:18625)
Ehlers-Danlos syndrome
(MONDO_0020066)
 Strong
MSI2
(HGNC:18585)
schizophrenia
(MONDO_0005090)
 Limited
LRRK1
(HGNC:18608)
osteosclerotic metaphyseal dysplasia
(MONDO_0014080)
 Strong
NEK9
(HGNC:18591)
nevus comedonicus syndrome
(MONDO_0014873)
 Strong
LRRK1
(HGNC:18608)
Parkinson disease
(MONDO_0005180)
 Disputed
CCNO
(HGNC:18576)
primary ciliary dyskinesia
(MONDO_0016575)
 Strong
ZDHHC9
(HGNC:18475)
X-linked intellectual disability
(MONDO_0100284)
 Strong
CYS1
(HGNC:18525)
autosomal recessive polycystic kidney disease
(MONDO_0009889)
 Limited
SPART
(HGNC:18514)
hereditary spastic paraplegia
(MONDO_0019064)
 Strong
FCRL1
(HGNC:18509)
EAST syndrome
(MONDO_0013005)
 Limited
SPART
(HGNC:18514)
Troyer syndrome
(MONDO_0010156)
 Definitive
PIWIL3
(HGNC:18443)
premature menopause
(MONDO_0001119)
 Limited
TFB2M
(HGNC:18559)
autism spectrum disorder
(MONDO_0005258)
 Limited
CECR2
(HGNC:1840)
cat-eye syndrome
(MONDO_0007276)
 Limited
GRID2IP
(HGNC:18464)
autism
(MONDO_0005260)
 Limited
AGO3
(HGNC:18421)
neurodevelopmental disorder
(MONDO_0700092)
 Limited
HIP1R
(HGNC:18415)
Parkinson disease
(MONDO_0005180)
 Limited
SMARCAD1
(HGNC:18398)
absence of fingerprints-congenital milia syndrome
(MONDO_0007507)
 Strong
IFNL2
(HGNC:18364)
hepatitis C virus infection
(MONDO_0005231)
 Limited
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