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
SYDE2
(HGNC:25841)
intellectual disability
(MONDO_0001071)
Limited
CEP63
(HGNC:25815)
Seckel syndrome
(MONDO_0019342)
Limited
SRD5A3
(HGNC:25812)
congenital disorder of glycosylation
(MONDO_0015286)
Strong
USB1
(HGNC:25792)
dyskeratosis congenita
(MONDO_0015780)
Strong
USB1
(HGNC:25792)
poikiloderma with neutropenia
(MONDO_0011405)
Definitive
MTHFSD
(HGNC:25778)
amyotrophic lateral sclerosis
(MONDO_0004976)
Limited
TCTN2
(HGNC:25774)
Joubert syndrome
(MONDO_0018772)
Moderate
SMG9
(HGNC:25763)
heart and brain malformation syndrome
(MONDO_0014833)
Moderate
TCTN2
(HGNC:25774)
Meckel syndrome, type 1
(MONDO_0009571)
Moderate
MUL1
(HGNC:25762)
Parkinson disease
(MONDO_0005180)
Limited
LAS1L
(HGNC:25726)
X-linked intellectual disability
(MONDO_0100284)
Limited
LAS1L
(HGNC:25726)
autosomal recessive distal spinal muscular atrophy 1
(MONDO_0011436)
Limited
FN3KRP
(HGNC:25700)
type 2 diabetes mellitus
(MONDO_0005148)
Limited
KCTD17
(HGNC:25705)
myoclonic dystonia 11
(MONDO_0008044)
Moderate
GORAB
(HGNC:25676)
geroderma osteodysplastica
(MONDO_0009271)
Strong
WDR33
(HGNC:25651)
premature menopause
(MONDO_0001119)
Limited
ACOXL
(HGNC:25621)
B-cell chronic lymphocytic leukemia
(MONDO_0004948)
Limited
ATAD3A
(HGNC:25567)
Harel-Yoon syndrome
(MONDO_0014958)
Definitive
TMEM39A
(HGNC:25600)
multiple sclerosis
(MONDO_0005301)
Limited
OGFOD1
(HGNC:25585)
Parkinson disease
(MONDO_0005180)
Limited
Showing 5801–5820 of 6681