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
FZD7
(HGNC:4045)
classic familial adenomatous polyposis
(MONDO_0021055)
Refuted
FZD7
(HGNC:4045)
Lynch syndrome
(MONDO_0005835)
Disputed
FUT7
(HGNC:4018)
hereditary multiple osteochondromas
(MONDO_0005508)
Limited
MCIDAS
(HGNC:40050)
primary ciliary dyskinesia
(MONDO_0016575)
Limited
PET100
(HGNC:40038)
cytochrome-c oxidase deficiency disease
(MONDO_0009068)
Moderate
PET100
(HGNC:40038)
mitochondrial disease
(MONDO_0044970)
Limited
MUC22
(HGNC:39755)
asthma
(MONDO_0004979)
Limited
FSTL1
(HGNC:3972)
congenital heart disease
(MONDO_0005453)
Disputed
CENPI
(HGNC:3968)
nephrotic syndrome of childhood - steroid sensitive
(MONDO_0044781)
Limited
CENPI
(HGNC:3968)
nephrotic syndrome
(MONDO_0005377)
Limited
FOXD2
(HGNC:3803)
congenital anomaly of kidney and urinary tract
(MONDO_0019719)
Moderate
FLRT3
(HGNC:3762)
congenital hypogonadotropic hypogonadism
(MONDO_0015770)
Limited
KBTBD13
(HGNC:37227)
congenital myopathy
(MONDO_0019952)
Strong
KBTBD13
(HGNC:37227)
nemaline myopathy 6
(MONDO_0012237)
Strong
KBTBD13
(HGNC:37227)
nemaline myopathy
(MONDO_0018958)
Strong
FEM1B
(HGNC:3649)
polycystic ovary syndrome
(MONDO_0008487)
Limited
FDX1
(HGNC:3638)
IgA glomerulonephritis
(MONDO_0005342)
Limited
FCGRT
(HGNC:3621)
prostate cancer
(MONDO_0008315)
Disputed
FCGRT
(HGNC:3621)
uterine corpus leiomyoma
(MONDO_0007886)
Disputed
FCGRT
(HGNC:3621)
colon carcinoma
(MONDO_0002032)
Disputed
Showing 5461–5480 of 6681