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
Back to Open Access Summaries

Gene–Disease Browser

Need updated, customized, evidence‑backed summaries? Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
Contact us
Gene Disease Score Actions
DTYMK
(HGNC:3061)
mitochondrial DNA depletion syndrome
(MONDO_0018158)
 Moderate
UBA2
(HGNC:30661)
ACCES syndrome
(MONDO_0859262)
 Strong
SEPSECS
(HGNC:30605)
pontocerebellar hypoplasia type 2
(MONDO_0016759)
 Moderate
PARS2
(HGNC:30563)
mitochondrial disease
(MONDO_0044970)
 Moderate
TXNL4A
(HGNC:30551)
choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
(MONDO_0012064)
 Strong
DTNA
(HGNC:3057)
Meniere disease
(MONDO_0007972)
 Limited
DNAAF1
(HGNC:30539)
primary ciliary dyskinesia
(MONDO_0016575)
 Strong
MARCHF6
(HGNC:30550)
benign adult familial myoclonic epilepsy
(MONDO_0019448)
 Disputed
DSPP
(HGNC:3054)
dentinogenesis imperfecta type 3
(MONDO_0007442)
 Strong
DSPP
(HGNC:3054)
dentinogenesis imperfecta type 2
(MONDO_0007441)
 Strong
DSP
(HGNC:3052)
striate palmoplantar keratoderma
(MONDO_0018865)
 Moderate
DSPP
(HGNC:3054)
dentin dysplasia type II
(MONDO_0007437)
 Moderate
DSP
(HGNC:3052)
arrhythmogenic cardiomyopathy with wooly hair and keratoderma
(MONDO_0011581)
 Definitive
DSP
(HGNC:3052)
severe dermatitis-multiple allergies-metabolic wasting syndrome
(MONDO_0014218)
 Moderate
DSP
(HGNC:3052)
cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
(MONDO_0014355)
 Strong
DSP
(HGNC:3052)
lethal acantholytic epidermolysis bullosa
(MONDO_0012323)
 Moderate
YIF1B
(HGNC:30511)
Kaya-Barakat-Masson syndrome
(MONDO_0030878)
 Limited
DSP
(HGNC:3052)
hypertrophic cardiomyopathy
(MONDO_0005045)
 Limited
PRRT2
(HGNC:30500)
neurodevelopmental disorder
(MONDO_0700092)
 Limited
PRRT2
(HGNC:30500)
benign familial infantile epilepsy
(MONDO_0017615)
 Definitive
Showing 1901–1920 of 6681