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
SRRM2
(HGNC:16639)
intellectual developmental disorder, autosomal dominant 72
(MONDO_0957397)
 Strong
CD36
(HGNC:1663)
platelet-type bleeding disorder 10
(MONDO_0012031)
 Strong
KIF1B
(HGNC:16636)
pheochromocytoma
(MONDO_0008233)
 Limited
KIF1B
(HGNC:16636)
Charcot-Marie-Tooth disease type 2A1
(MONDO_0007308)
 Disputed
CHEK2
(HGNC:16627)
acute myeloid leukemia
(MONDO_0018874)
 Limited
KGD4
(HGNC:16631)
Leigh syndrome
(MONDO_0009723)
 Limited
CHEK2
(HGNC:16627)
hereditary nonpolyposis colon cancer
(MONDO_0018630)
 Limited
CHEK2
(HGNC:16627)
hereditary breast carcinoma
(MONDO_0016419)
 Strong
TMC1
(HGNC:16513)
nonsyndromic genetic hearing loss
(MONDO_0019497)
 Strong
CHEK2
(HGNC:16627)
familial ovarian cancer
(MONDO_0016248)
 Limited
RAPGEF4
(HGNC:16626)
prostate cancer
(MONDO_0008315)
 Limited
TMC1
(HGNC:16513)
autosomal dominant nonsyndromic hearing loss 36
(MONDO_0011708)
 Strong
BSND
(HGNC:16512)
Bartter syndrome type 4
(MONDO_0019524)
 Strong
BSND
(HGNC:16512)
Bartter disease type 4A
(MONDO_0011242)
 Strong
ZMIZ1
(HGNC:16493)
syndromic intellectual disability
(MONDO_0000508)
 Strong
BPIFC
(HGNC:16503)
trichilemmal cyst
(MONDO_0012328)
 Limited
RAB39B
(HGNC:16499)
early-onset parkinsonism-intellectual disability syndrome
(MONDO_0010709)
 Strong
ZMIZ1
(HGNC:16493)
neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
(MONDO_0032855)
 Moderate
NME8
(HGNC:16473)
primary ciliary dyskinesia
(MONDO_0016575)
 Moderate
SLC45A2
(HGNC:16472)
oculocutaneous albinism type 4
(MONDO_0011683)
 Definitive
Showing 3201–3220 of 6681