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
S1PR3
(HGNC:3167)
neurocutaneous melanocytosis
(MONDO_0009578)
Limited
HAPLN4
(HGNC:31357)
essential tremor
(MONDO_0003233)
Disputed
OR2T35
(HGNC:31257)
xeroderma pigmentosum group C
(MONDO_0010211)
Disputed
SLC16A13
(HGNC:31037)
type 2 diabetes mellitus
(MONDO_0005148)
Limited
OR2T35
(HGNC:31257)
ovarian carcinoma
(MONDO_0005140)
Limited
YY1AP1
(HGNC:30935)
grange syndrome
(MONDO_0011243)
Strong
ZC3H7A
(HGNC:30959)
pancreatic ductal adenocarcinoma
(MONDO_0005184)
Limited
VWA1
(HGNC:30910)
neuromuscular disease
(MONDO_0019056)
Moderate
TBC1D31
(HGNC:30888)
congenital anomaly of kidney and urinary tract
(MONDO_0019719)
Limited
DVL1
(HGNC:3084)
Robinow syndrome
(MONDO_0019978)
Definitive
POC1B
(HGNC:30836)
cone dystrophy
(MONDO_0000455)
Strong
SEZ6L2
(HGNC:30844)
autism
(MONDO_0005260)
Limited
TDRD7
(HGNC:30831)
glaucoma
(MONDO_0005041)
Limited
PRSS55
(HGNC:30824)
prostate cancer
(MONDO_0008315)
Disputed
PRRG4
(HGNC:30799)
WAGR syndrome
(MONDO_0008681)
Moderate
TSPAN11
(HGNC:30795)
Kallmann syndrome
(MONDO_0018800)
Limited
TSPAN11
(HGNC:30795)
intellectual disability
(MONDO_0001071)
Limited
UBIAD1
(HGNC:30791)
Schnyder corneal dystrophy
(MONDO_0007374)
Definitive
CDCA7L
(HGNC:30777)
plasma cell myeloma
(MONDO_0009693)
Limited
TRAIP
(HGNC:30764)
Seckel syndrome 9
(MONDO_0014767)
Limited
Showing 5521–5540 of 6681