Variant Synonymizer: Platform to identify mutations defined in different ways is available now!

VarSy

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

Browse Summaries

Stats

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

Gene–Disease Browser

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Gene Disease Score Actions
STK38L
(HGNC:17848)
intellectual disability
(MONDO_0001071)
Limited
ACBD7
(HGNC:17715)
anorexia nervosa
(MONDO_0005351)
Limited
RANGRF
(HGNC:17679)
Brugada syndrome
(MONDO_0015263)
Limited
TBRG4
(HGNC:17443)
plasma cell myeloma
(MONDO_0009693)
Limited
GMNN
(HGNC:17493)
Meier-Gorlin syndrome
(MONDO_0016817)
Limited
CHIA
(HGNC:17432)
asthma
(MONDO_0004979)
Limited
FHL5
(HGNC:17371)
migraine disorder
(MONDO_0005277)
Limited
APIP
(HGNC:17581)
cystic fibrosis
(MONDO_0009061)
Moderate
NAGPA
(HGNC:17378)
stutter disorder
(MONDO_0000723)
Moderate
AASS
(HGNC:17366)
hyperlysinemia
(MONDO_0009388)
Strong
RXFP2
(HGNC:17318)
cryptorchidism
(MONDO_0009047)
Strong
RRAS2
(HGNC:17271)
Noonan syndrome
(MONDO_0018997)
Strong
IL27RA
(HGNC:17290)
asthma
(MONDO_0004979)
Limited
IP6K2
(HGNC:17313)
Parkinson disease
(MONDO_0005180)
Limited
PASK
(HGNC:17270)
2q37 microdeletion syndrome
(MONDO_0010886)
Limited
STK36
(HGNC:17209)
Zimmermann-Laband syndrome
(MONDO_0000200)
Disputed
DHX38
(HGNC:17211)
retinitis pigmentosa
(MONDO_0019200)
Moderate
ABI3BP
(HGNC:17265)
colorectal cancer
(MONDO_0005575)
Disputed
ELMO2
(HGNC:17233)
Ramon syndrome
(MONDO_0009954)
Limited
STK36
(HGNC:17209)
Temple-Baraitser syndrome
(MONDO_0012735)
Disputed
Showing 6241–6260 of 6681