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

Gene–Disease Browser

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Gene Disease Score Actions
RTN2
(HGNC:10468)
hereditary spastic paraplegia
(MONDO_0019064)
Strong
RRAD
(HGNC:10446)
type 2 diabetes mellitus
(MONDO_0005148)
Limited
RPS28
(HGNC:10418)
Diamond-Blackfan anemia
(MONDO_0015253)
Moderate
RPS7
(HGNC:10440)
Diamond-Blackfan anemia
(MONDO_0015253)
Moderate
RPS29
(HGNC:10419)
Diamond-Blackfan anemia
(MONDO_0015253)
Strong
RPS17
(HGNC:10397)
Diamond-Blackfan anemia
(MONDO_0015253)
Strong
RPL8
(HGNC:10368)
Diamond-Blackfan anemia
(MONDO_0015253)
Limited
RPL17
(HGNC:10307)
Diamond-Blackfan anemia
(MONDO_0015253)
Disputed
RPL18
(HGNC:10310)
Diamond-Blackfan anemia
(MONDO_0015253)
Moderate
RPL15
(HGNC:10306)
Diamond-Blackfan anemia
(MONDO_0015253)
Moderate
TRIM10
(HGNC:10072)
Parkinson disease
(MONDO_0005180)
Limited
BDH1
(HGNC:1027)
chromosome 3q29 microduplication syndrome
(MONDO_0012761)
Limited
ROR1
(HGNC:10256)
B-cell chronic lymphocytic leukemia
(MONDO_0004948)
Limited
RNMT
(HGNC:10075)
colorectal cancer
(MONDO_0005575)
Limited
RNF7
(HGNC:10070)
Oguchi disease
(MONDO_0019152)
Strong
RNASE4
(HGNC:10047)
amyotrophic lateral sclerosis
(MONDO_0004976)
Limited
RNASE3
(HGNC:10046)
asthma
(MONDO_0004979)
Limited
RNF4
(HGNC:10067)
Prader-Willi syndrome
(MONDO_0008300)
Refuted
RING1
(HGNC:10018)
leukemia
(MONDO_0005059)
Limited
RNASE1
(HGNC:10044)
type 2 diabetes mellitus
(MONDO_0005148)
Limited
Showing 6661–6680 of 6681