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!

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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
SFXN4
(HGNC:16088)
macrocytic anemia
(MONDO_0002281)
 Limited
STMN4
(HGNC:16078)
autism spectrum disorder
(MONDO_0005258)
 Limited
LIMS2
(HGNC:16084)
limb-girdle muscular dystrophy
(MONDO_0016971)
 Moderate
MLLT10
(HGNC:16063)
acute myeloid leukemia
(MONDO_0018874)
 Strong
ACER3
(HGNC:16066)
leukodystrophy
(MONDO_0019046)
 Strong
PAK4
(HGNC:16059)
gastric cancer
(MONDO_0001056)
 Moderate
MED12L
(HGNC:16050)
uterine corpus leiomyoma
(MONDO_0007886)
 Limited
COLEC12
(HGNC:16016)
diabetic retinopathy
(MONDO_0005266)
 Moderate
TRIM63
(HGNC:16007)
hypertrophic cardiomyopathy
(MONDO_0005045)
 Strong
MOB1A
(HGNC:16015)
Alzheimer disease
(MONDO_0004975)
 Strong
MPLKIP
(HGNC:16002)
trichothiodystrophy
(MONDO_0018053)
 Strong
TRIM2
(HGNC:15974)
Charcot-Marie-Tooth disease
(MONDO_0015626)
 Strong
SLC2A13
(HGNC:15956)
Parkinson disease
(MONDO_0005180)
 Strong
SEZ6
(HGNC:15955)
childhood-onset schizophrenia
(MONDO_0957430)
 Limited
DAZ2
(HGNC:15964)
male infertility
(MONDO_0005372)
 Strong
TOE1
(HGNC:15954)
pontocerebellar hypoplasia type 7
(MONDO_0013993)
 Strong
L3MBTL1
(HGNC:15905)
Shwachman-Diamond syndrome
(MONDO_0009833)
 Limited
IFT52
(HGNC:15901)
Jeune syndrome
(MONDO_0018770)
 Strong
ZHX3
(HGNC:15935)
type 2 diabetes mellitus
(MONDO_0005148)
 Limited
WFDC2
(HGNC:15939)
ovarian carcinoma
(MONDO_0005140)
 Limited
Showing 6341–6360 of 6681