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
PRRT2
(HGNC:30500)
infantile convulsions and choreoathetosis
(MONDO_0011178)
 Definitive
DSG2
(HGNC:3049)
dilated cardiomyopathy
(MONDO_0005021)
 Moderate
KIF7
(HGNC:30497)
acrocallosal syndrome
(MONDO_0008708)
 Strong
PIGP
(HGNC:3046)
developmental and epileptic encephalopathy, 55
(MONDO_0033364)
 Limited
SHROOM3
(HGNC:30422)
neural tube defect
(MONDO_0018075)
 Moderate
AEBP1
(HGNC:303)
Ehlers-Danlos syndrome, classic-like, 2
(MONDO_0054813)
 Strong
DSCAM
(HGNC:3039)
autism spectrum disorder
(MONDO_0005258)
 Limited
IFT172
(HGNC:30391)
Jeune syndrome
(MONDO_0018770)
 Limited
IFT172
(HGNC:30391)
short-rib thoracic dysplasia 9 with or without polydactyly
(MONDO_0009964)
 Limited
SCAMP5
(HGNC:30386)
epilepsy
(MONDO_0005027)
 Moderate
KLHL40
(HGNC:30372)
nemaline myopathy 8
(MONDO_0014138)
 Definitive
POLR3B
(HGNC:30348)
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
(MONDO_0013722)
 Strong
ATN1
(HGNC:3033)
congenital hypotonia, epilepsy, developmental delay, and digital anomalies
(MONDO_0032781)
 Moderate
RIC3
(HGNC:30338)
Parkinson disease
(MONDO_0005180)
 Disputed
ARHGEF28
(HGNC:30322)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Limited
RGS9BP
(HGNC:30304)
bradyopsia
(MONDO_0012033)
 Limited
DRD5
(HGNC:3026)
attention deficit-hyperactivity disorder
(MONDO_0007743)
 Limited
PYCR2
(HGNC:30262)
hypomyelinating leukodystrophy 10
(MONDO_0014632)
 Strong
PNPO
(HGNC:30260)
pyridoxal phosphate-responsive seizures
(MONDO_0012407)
 Strong
TUSC3
(HGNC:30242)
autosomal recessive non-syndromic intellectual disability
(MONDO_0019502)
 Moderate
Showing 1921–1940 of 6681