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
ARHGEF26
(HGNC:24490)
coronary artery disorder
(MONDO_0005010)
Limited
POC1A
(HGNC:24488)
short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
(MONDO_0013894)
Definitive
CHST14
(HGNC:24464)
Ehlers-Danlos syndrome, musculocontractural type
(MONDO_0011142)
Strong
DCANP1
(HGNC:24459)
major depressive disorder
(MONDO_0002009)
Disputed
CNDP2
(HGNC:24437)
diabetic kidney disease
(MONDO_0005016)
Limited
DNER
(HGNC:24456)
type 2 diabetes mellitus
(MONDO_0005148)
Limited
CSH1
(HGNC:2440)
Cockayne syndrome
(MONDO_0016006)
Strong
CCDC68
(HGNC:24350)
schizophrenia
(MONDO_0005090)
Limited
NCAPD2
(HGNC:24305)
Alzheimer disease
(MONDO_0004975)
Limited
NMD3
(HGNC:24250)
Parkinson disease
(MONDO_0005180)
Limited
DRC1
(HGNC:24245)
primary ciliary dyskinesia
(MONDO_0016575)
Definitive
CD200R1
(HGNC:24235)
atopic eczema
(MONDO_0004980)
Moderate
PHF21A
(HGNC:24156)
Potocki-Shaffer syndrome
(MONDO_0011022)
Strong
CEBPZ
(HGNC:24218)
acute myeloid leukemia
(MONDO_0018874)
Limited
BMPER
(HGNC:24154)
diaphanospondylodysostosis
(MONDO_0011946)
Strong
WWC2
(HGNC:24148)
restless legs syndrome
(MONDO_0005391)
Disputed
MGAT5B
(HGNC:24140)
autism spectrum disorder
(MONDO_0005258)
Limited
ATP13A3
(HGNC:24113)
pulmonary arterial hypertension
(MONDO_0015924)
Definitive
ARAP3
(HGNC:24097)
lymphatic malformation
(MONDO_0019313)
Limited
ANGPTL7
(HGNC:24078)
glaucoma
(MONDO_0005041)
Moderate
Showing 5901–5920 of 6681