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
ELOC
(HGNC:11617)
clear cell renal carcinoma
(MONDO_0005005)
Limited
TBX19
(HGNC:11596)
congenital isolated adrenocorticotropic hormone deficiency
(MONDO_0008720)
Definitive
TAF6
(HGNC:11540)
Cornelia de Lange syndrome
(MONDO_0016033)
Limited
TALDO1
(HGNC:11559)
transaldolase deficiency
(MONDO_0011624)
Strong
SVIL
(HGNC:11480)
hypertrophic cardiomyopathy
(MONDO_0005045)
Limited
TAF6
(HGNC:11540)
Wiedemann-Steiner syndrome
(MONDO_0011518)
Limited
VAMP7
(HGNC:11486)
Rett syndrome
(MONDO_0010726)
Disputed
STX16
(HGNC:11431)
pseudohypoparathyroidism
(MONDO_0019992)
Strong
STX3
(HGNC:11438)
microvillus inclusion disease
(MONDO_0009635)
Strong
SUCLG2
(HGNC:11450)
multiple acyl-CoA dehydrogenase deficiency
(MONDO_0009282)
Limited
SRPK3
(HGNC:11402)
X-linked intellectual disability
(MONDO_0100284)
Moderate
STK24
(HGNC:11403)
keratoconus
(MONDO_0015486)
Limited
SS18
(HGNC:11340)
synovial sarcoma
(MONDO_0010434)
Definitive
SSX1
(HGNC:11335)
synovial sarcoma
(MONDO_0010434)
Strong
SSR3
(HGNC:11325)
congenital disorder of glycosylation
(MONDO_0015286)
Limited
SSR4
(HGNC:11326)
congenital disorder of glycosylation
(MONDO_0015286)
Strong
SRP72
(HGNC:11303)
acute myeloid leukemia
(MONDO_0018874)
Limited
SRPK2
(HGNC:11306)
atrial septal defect
(MONDO_0006664)
Disputed
SRPK2
(HGNC:11306)
congenital heart disease
(MONDO_0005453)
Disputed
SPRR2B
(HGNC:11262)
atopic eczema
(MONDO_0004980)
Limited
Showing 6581–6600 of 6681