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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
TRIT1
(HGNC:20286)
mitochondrial disease
(MONDO_0044970)
 Strong
NUBPL
(HGNC:20278)
mitochondrial complex I deficiency
(MONDO_0100133)
 Strong
CLCN4
(HGNC:2022)
intellectual disability, X-linked 49
(MONDO_0010250)
 Strong
CLCN2
(HGNC:2020)
epilepsy
(MONDO_0005027)
 Disputed
B3GLCT
(HGNC:20207)
Peters plus syndrome
(MONDO_0009856)
 Definitive
CLCN1
(HGNC:2019)
myotonia congenita, autosomal recessive
(MONDO_0009715)
 Definitive
SLC35C1
(HGNC:20197)
leukocyte adhesion deficiency type II
(MONDO_0009953)
 Strong
POLR1C
(HGNC:20194)
Treacher-Collins syndrome
(MONDO_0002457)
 Strong
TMEM260
(HGNC:20185)
structural heart defects and renal anomalies syndrome
(MONDO_0044321)
 Strong
HECTD1
(HGNC:20157)
neurodevelopmental disorder
(MONDO_0700092)
 Moderate
HECTD1
(HGNC:20157)
neural tube defect
(MONDO_0018075)
 Limited
CHD8
(HGNC:20153)
intellectual developmental disorder with autism and macrocephaly
(MONDO_0014017)
 Definitive
CHD8
(HGNC:20153)
congenital myasthenic syndrome
(MONDO_0018940)
 Limited
CHD8
(HGNC:20153)
autism
(MONDO_0005260)
 Strong
CHD8
(HGNC:20153)
intellectual disability
(MONDO_0001071)
 Strong
SLC17A8
(HGNC:20151)
autosomal dominant nonsyndromic hearing loss 25
(MONDO_0011568)
 Strong
GPR143
(HGNC:20145)
ocular albinism
(MONDO_0017304)
 Definitive
TEDC1
(HGNC:20127)
microcephaly
(MONDO_0001149)
 Limited
AHNAK2
(HGNC:20125)
Charcot-Marie-Tooth disease
(MONDO_0015626)
 Limited
AK7
(HGNC:20091)
primary ciliary dyskinesia
(MONDO_0016575)
 Limited
Showing 2781–2800 of 6681