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!

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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
ARHGEF12
(HGNC:14193)
OPTN-related open angle glaucoma
(MONDO_0100553)
Strong
ARHGEF12
(HGNC:14193)
type 2 diabetes mellitus
(MONDO_0005148)
Disputed
AVIL
(HGNC:14188)
multiple sclerosis
(MONDO_0005301)
Limited
HS3ST6
(HGNC:14178)
hereditary angioedema
(MONDO_0019623)
Moderate
PIGQ
(HGNC:14135)
infantile epileptic-dyskinetic encephalopathy
(MONDO_0018226)
Strong
RTN4
(HGNC:14085)
schizophrenia
(MONDO_0005090)
Disputed
ATP1A4
(HGNC:14073)
pelvic organ prolapse
(MONDO_0000082)
Limited
CACNG3
(HGNC:1407)
childhood absence epilepsy
(MONDO_0010826)
Strong
HDAC7
(HGNC:14067)
systemic lupus erythematosus
(MONDO_0007915)
Limited
HDAC7
(HGNC:14067)
multiple sclerosis
(MONDO_0005301)
Strong
SLC5A7
(HGNC:14025)
congenital myasthenic syndrome
(MONDO_0018940)
Strong
MRPL15
(HGNC:14054)
benign essential blepharospasm
(MONDO_0011728)
Limited
PRDM15
(HGNC:13999)
chronic obstructive pulmonary disease
(MONDO_0005002)
Moderate
PRDM13
(HGNC:13998)
North Carolina macular dystrophy
(MONDO_0007630)
Definitive
PRDM12
(HGNC:13997)
channelopathy-associated congenital insensitivity to pain, autosomal recessive
(MONDO_0009459)
Strong
ABHD16A
(HGNC:13921)
hereditary spastic paraplegia
(MONDO_0019064)
Strong
SGK2
(HGNC:13900)
Shwachman-Diamond syndrome
(MONDO_0009833)
Limited
CABP4
(HGNC:1386)
congenital stationary night blindness
(MONDO_0016293)
Strong
SCAND3
(HGNC:13851)
hypertensive disorder
(MONDO_0005044)
Limited
SCAND3
(HGNC:13851)
cardiovascular disorder
(MONDO_0004995)
Limited
Showing 6441–6460 of 6681