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
SLC39A4
(HGNC:17129)
acrodermatitis enteropathica
(MONDO_0008713)
 Definitive
RAB3GAP1
(HGNC:17063)
Warburg micro syndrome
(MONDO_0016649)
 Definitive
MLC1
(HGNC:17082)
megalencephalic leukoencephalopathy with subcortical cysts
(MONDO_0011391)
 Definitive
CFHR3
(HGNC:16980)
atypical hemolytic-uremic syndrome
(MONDO_0016244)
 Moderate
HAX1
(HGNC:16915)
severe congenital neutropenia
(MONDO_0018542)
 Definitive
CD79B
(HGNC:1699)
diffuse large B-cell lymphoma
(MONDO_0018905)
 Strong
SRCAP
(HGNC:16974)
Floating-Harbor syndrome
(MONDO_0007621)
 Definitive
HAX1
(HGNC:16915)
Kostmann syndrome
(MONDO_0012548)
 Definitive
HCN4
(HGNC:16882)
sinoatrial node disorder
(MONDO_0000469)
 Definitive
UBR1
(HGNC:16808)
Johanson-Blizzard syndrome
(MONDO_0009479)
 Definitive
RAB39B
(HGNC:16499)
Parkinson disease
(MONDO_0005180)
 Strong
SLC45A2
(HGNC:16472)
oculocutaneous albinism
(MONDO_0018910)
 Definitive
IFITM5
(HGNC:16644)
osteogenesis imperfecta
(MONDO_0019019)
 Definitive
TMPRSS6
(HGNC:16517)
IRIDA syndrome
(MONDO_0008788)
 Definitive
SUFU
(HGNC:16466)
nevoid basal cell carcinoma syndrome
(MONDO_0007187)
 Strong
CARD9
(HGNC:16391)
predisposition to invasive fungal disease due to CARD9 deficiency
(MONDO_0008905)
 Definitive
CARD9
(HGNC:16391)
deep seated dermatophytosis
(MONDO_0021660)
 Definitive
CARD14
(HGNC:16446)
pityriasis rubra pilaris
(MONDO_0100017)
 Moderate
CARD9
(HGNC:16391)
phaeohyphomycosis
(MONDO_0001867)
 Strong
PARK7
(HGNC:16369)
Parkinson disease
(MONDO_0005180)
 Strong
Showing 4961–4980 of 6681