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
FGFR3
(HGNC:3690)
Achondroplasia
(MONDO_0007037)
Definitive
FGFR2
(HGNC:3689)
Pfeiffer syndrome type 1
(MONDO_0019659)
Strong
FGFR2
(HGNC:3689)
LADD syndrome
(MONDO_0007872)
Strong
FGFR2
(HGNC:3689)
Pfeiffer syndrome type 2
(MONDO_0019660)
Strong
FGFR2
(HGNC:3689)
Antley-Bixler syndrome
(MONDO_0008803)
Moderate
FGFR2
(HGNC:3689)
Crouzon syndrome
(MONDO_0007405)
Definitive
FGFR2
(HGNC:3689)
Pfeiffer syndrome
(MONDO_0007043)
Definitive
FGFR2
(HGNC:3689)
Beare-Stevenson cutis gyrata syndrome
(MONDO_0007412)
Strong
FGFR2
(HGNC:3689)
Apert syndrome
(MONDO_0007041)
Definitive
FGFR2
(HGNC:3689)
Saethre-Chotzen syndrome
(MONDO_0007042)
Limited
FGFR1
(HGNC:3688)
hypogonadotropic hypogonadism
(MONDO_0018555)
Definitive
FGFR1
(HGNC:3688)
Kallmann syndrome
(MONDO_0018800)
Definitive
FGFR1
(HGNC:3688)
Hartsfield-Bixler-Demyer syndrome
(MONDO_0014196)
Strong
FGFR1
(HGNC:3688)
holoprosencephaly
(MONDO_0016296)
Moderate
FGFR1
(HGNC:3688)
septooptic dysplasia
(MONDO_0008428)
Limited
FGFR1
(HGNC:3688)
encephalocraniocutaneous lipomatosis
(MONDO_0013074)
Strong
AIRE
(HGNC:360)
autoimmune polyendocrine syndrome type 1
(MONDO_0009411)
Definitive
FCGR3B
(HGNC:3620)
systemic lupus erythematosus
(MONDO_0007915)
Limited
FGF9
(HGNC:3687)
multiple synostoses syndrome
(MONDO_0017923)
Definitive
FGFR1
(HGNC:3688)
osteoglophonic dwarfism
(MONDO_0008150)
Strong
Showing 1641–1660 of 6681