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
REEP4
(HGNC:26176)
benign essential blepharospasm
(MONDO_0011728)
Limited
REEP4
(HGNC:26176)
dystonic disorder
(MONDO_0003441)
Limited
EXO5
(HGNC:26115)
prostate cancer
(MONDO_0008315)
Limited
TCTN1
(HGNC:26113)
Joubert syndrome
(MONDO_0018772)
Moderate
DNAAF5
(HGNC:26013)
primary ciliary dyskinesia
(MONDO_0016575)
Strong
CFAP69
(HGNC:26107)
male infertility
(MONDO_0005372)
Strong
LAGE3
(HGNC:26058)
Galloway-Mowat syndrome
(MONDO_0009627)
Strong
KRBOX4
(HGNC:26007)
intellectual disability
(MONDO_0001071)
Disputed
SYBU
(HGNC:26011)
Parkinson disease
(MONDO_0005180)
Limited
SPDL1
(HGNC:26010)
prostate cancer
(MONDO_0008315)
Limited
LAX1
(HGNC:26005)
rheumatoid arthritis
(MONDO_0008383)
Limited
LAX1
(HGNC:26005)
systemic lupus erythematosus
(MONDO_0007915)
Limited
PIGG
(HGNC:25985)
congenital disorder of glycosylation
(MONDO_0015286)
Strong
PIGG
(HGNC:25985)
intellectual disability
(MONDO_0001071)
Strong
RNF186
(HGNC:25978)
ulcerative colitis
(MONDO_0005101)
Moderate
DEF8
(HGNC:25969)
melanoma
(MONDO_0005105)
Limited
DEF8
(HGNC:25969)
skin squamous cell carcinoma
(MONDO_0002529)
Limited
WDR73
(HGNC:25928)
Galloway-Mowat syndrome
(MONDO_0009627)
Strong
FAM136A
(HGNC:25911)
Meniere disease
(MONDO_0007972)
Limited
NAA60
(HGNC:25875)
basal ganglia calcification, idiopathic, 1
(MONDO_0024538)
Moderate
Showing 5781–5800 of 6681