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
MTF2
(HGNC:29535)
Parkinson disease
(MONDO_0005180)
Limited
C12orf57
(HGNC:29521)
temtamy syndrome
(MONDO_0009033)
Definitive
GPSM2
(HGNC:29501)
Chudley-McCullough syndrome
(MONDO_0011411)
Strong
LCE3B
(HGNC:29462)
psoriasis
(MONDO_0005083)
Limited
GLIS2
(HGNC:29450)
nephronophthisis
(MONDO_0019005)
Moderate
KIF2B
(HGNC:29443)
obesity disorder
(MONDO_0011122)
Limited
DNAH12
(HGNC:2943)
gastric adenocarcinoma
(MONDO_0005036)
Limited
CCBE1
(HGNC:29426)
Hennekam syndrome
(MONDO_0016256)
Definitive
RSPRY1
(HGNC:29420)
spondyloepimetaphyseal dysplasia
(MONDO_0100510)
Moderate
EARS2
(HGNC:29419)
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
(MONDO_0013971)
Strong
ZNF526
(HGNC:29415)
Dentici-Novelli neurodevelopmental syndrome
(MONDO_0859251)
Limited
ZNF518B
(HGNC:29365)
gout
(MONDO_0005393)
Limited
FHIP2A
(HGNC:29320)
intellectual disability
(MONDO_0001071)
Limited
THSD7B
(HGNC:29348)
lung cancer
(MONDO_0008903)
Limited
KLHL15
(HGNC:29347)
X-linked intellectual disability
(MONDO_0100284)
Limited
THSD7B
(HGNC:29348)
lung adenocarcinoma
(MONDO_0005061)
Limited
ZSWIM6
(HGNC:29316)
acromelic frontonasal dysostosis
(MONDO_0011359)
Strong
ZDBF2
(HGNC:29313)
nasopalpebral lipoma-coloboma syndrome
(MONDO_0008182)
Limited
FBRSL1
(HGNC:29308)
Parkinson disease
(MONDO_0005180)
Limited
ADSS2
(HGNC:292)
schizophrenia
(MONDO_0005090)
Disputed
Showing 5621–5640 of 6681