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

Gene–Disease Browser

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Gene Disease Score Actions
NDUFA9
(HGNC:7693)
Leigh syndrome
(MONDO_0009723)
Moderate
NDUFA10
(HGNC:7684)
Leigh syndrome
(MONDO_0009723)
Limited
NDUFA5
(HGNC:7688)
mucocutaneous lymph node syndrome
(MONDO_0012727)
Limited
NDST3
(HGNC:7682)
schizophrenia
(MONDO_0005090)
Limited
NDST1
(HGNC:7680)
intellectual disability
(MONDO_0001071)
Strong
NDST3
(HGNC:7682)
bipolar disorder
(MONDO_0004985)
Disputed
NCKAP1
(HGNC:7666)
intellectual disability
(MONDO_0001071)
Moderate
MYO1E
(HGNC:7599)
steroid-resistant nephrotic syndrome
(MONDO_0044765)
Moderate
MYL4
(HGNC:7585)
atrial fibrillation
(MONDO_0004981)
Strong
NAB2
(HGNC:7627)
solitary fibrous tumor
(MONDO_0016238)
Definitive
NAB1
(HGNC:7626)
idiopathic inflammatory myopathy
(MONDO_0600023)
Limited
ASPH
(HGNC:757)
facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
(MONDO_0011106)
Strong
GET3
(HGNC:752)
prostate cancer
(MONDO_0008315)
Disputed
MXRA5
(HGNC:7539)
malignant pleural mesothelioma
(MONDO_0005112)
Limited
SEPTIN9
(HGNC:7323)
amyotrophic neuralgia
(MONDO_0008076)
Strong
MT1E
(HGNC:7397)
type 2 diabetes mellitus
(MONDO_0005148)
Limited
MPP3
(HGNC:7221)
X-linked intellectual disability
(MONDO_0100284)
Limited
MPI
(HGNC:7216)
congenital disorder of glycosylation
(MONDO_0015286)
Strong
MNDA
(HGNC:7183)
type 1 diabetes mellitus
(MONDO_0005147)
Limited
MPDU1
(HGNC:7207)
congenital disorder of glycosylation
(MONDO_0015286)
Moderate
Showing 5281–5300 of 6681