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
SRP72
(HGNC:11303)
myelodysplastic syndrome
(MONDO_0018881)
 Limited
SRP72
(HGNC:11303)
aplastic anemia
(MONDO_0015909)
 Moderate
SPON1
(HGNC:11252)
schizophrenia
(MONDO_0005090)
 Limited
SPRR2B
(HGNC:11262)
asthma
(MONDO_0004979)
 Limited
SPAG6
(HGNC:11215)
primary ciliary dyskinesia
(MONDO_0016575)
 Moderate
SPIB
(HGNC:11242)
primary biliary cholangitis
(MONDO_0005388)
 Limited
SPARCL1
(HGNC:11220)
corneal dystrophy
(MONDO_0018102)
 Limited
SNRPF
(HGNC:11162)
type 2 diabetes mellitus
(MONDO_0005148)
 Limited
SPAG6
(HGNC:11215)
male infertility
(MONDO_0005372)
 Limited
SOX18
(HGNC:11194)
hypotrichosis-lymphedema-telangiectasia syndrome
(MONDO_0011914)
 Strong
SNRPB
(HGNC:11153)
cerebrocostomandibular syndrome
(MONDO_0007301)
 Strong
SNRPB
(HGNC:11153)
neurodevelopmental disorder
(MONDO_0700092)
 Limited
SNRNP70
(HGNC:11150)
mixed connective tissue disease
(MONDO_0005854)
 Limited
FSCN1
(HGNC:11148)
autism
(MONDO_0005260)
 Limited
FSCN1
(HGNC:11148)
breast cancer
(MONDO_0007254)
 Limited
SNAPC4
(HGNC:11137)
ankylosing spondylitis
(MONDO_0005306)
 Limited
SMARCD3
(HGNC:11108)
plasma cell myeloma
(MONDO_0009693)
 Limited
SNCB
(HGNC:11140)
Lewy body dementia
(MONDO_0007488)
 Disputed
SNAP29
(HGNC:11133)
CEDNIK syndrome
(MONDO_0012290)
 Definitive
SLPI
(HGNC:11092)
breast cancer
(MONDO_0007254)
 Disputed
Showing 6601–6620 of 6681